#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AP3D1	8943	genome.wustl.edu	37	19	2109147	2109147	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr19:2109147T>G	ENST00000345016.5	-	28	3455	c.3224A>C	c.(3223-3225)gAt>gCt	p.D1075A	AP3D1_ENST00000350812.6_Missense_Mutation_p.D906A|AP3D1_ENST00000355272.6_Missense_Mutation_p.D1137A|AP3D1_ENST00000356926.4_Missense_Mutation_p.D1034A	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1075					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAATGCCATCGACTTTGAT	0.557																																																0			19											89.0	94.0	92.0					19																	2109147		2078	4230	6308	2060147	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3224A>C	19.37:g.2109147T>G	ENSP00000344055:p.Asp1075Ala		2060147	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMPfam_BLVR	p.D1075A	ENST00000345016.5	37	c.3224	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	T	3.411	-0.120178	0.06838	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.4	4.4	0.53042	.	0.116625	0.64402	D	0.000020	T	0.39886	0.1095	L	0.47716	1.5	0.40120	D	0.976589	B;D;B;B	0.55385	0.245;0.971;0.245;0.206	B;P;B;B	0.50440	0.138;0.641;0.098;0.085	T	0.28650	-1.0037	10	0.07325	T	0.83	-22.4696	11.2859	0.49222	0.0:0.0:0.0:1.0	.	906;1137;1075;1034	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	A	1034;1075;1137;943;906	ENSP00000349398:D1034A;ENSP00000344055:D1075A;ENSP00000347416:D1137A;ENSP00000342321:D906A	ENSP00000341579:D943A	D	-	2	0	AP3D1	2060147	1.000000	0.71417	0.116000	0.21606	0.122000	0.20287	4.826000	0.62715	1.762000	0.52044	0.459000	0.35465	GAT	-	HMMPfam_BLVR		0.557	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	protein_coding	OTTHUMT00000450912.1	T			2060147	-1	no_errors	NM_003938	genbank	human	validated	54_36p	missense	SNP	1.000	G
OR51B6	390058	genome.wustl.edu	37	11	5373461	5373461	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr11:5373461C>A	ENST00000380219.1	+	1	724	c.724C>A	c.(724-726)Cat>Aat	p.H242N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	242					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGTCTCTCATATCTGCTG	0.428																																																0			11											253.0	221.0	232.0					11																	5373461		2201	4297	6498	5330037	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.724C>A	11.37:g.5373461C>A	ENSP00000369568:p.His242Asn		5330037		Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.H242N	ENST00000380219.1	37	c.724	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172930	0.78452	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00314	8.14	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.01254	0.0041	H	0.97077	3.935	0.42048	D	0.991101	D	0.89917	1.0	D	0.81914	0.995	T	0.42275	-0.9461	10	0.87932	D	0	.	17.0945	0.86631	0.0:1.0:0.0:0.0	.	242	Q9H340	O51B6_HUMAN	N	241;242	ENSP00000369568:H242N	ENSP00000369568:H242N	H	+	1	0	OR51B6	5330037	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.381000	0.79718	2.601000	0.87937	0.557000	0.71058	CAT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.428	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	C	NM_001004750		5330037	+1	no_errors	NM_001004750	genbank	human	provisional	54_36p	missense	SNP	1.000	A
FUT6	2528	genome.wustl.edu	37	19	5831396	5831396	+	3'UTR	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr19:5831396G>C	ENST00000318336.4	-	0	2377				FUT6_ENST00000527106.1_3'UTR|FUT6_ENST00000286955.5_3'UTR|FUT6_ENST00000592563.1_Missense_Mutation_p.P363R|FUT6_ENST00000524754.1_3'UTR	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)						fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TCCTCAGGCAGGTGAAGCTTC	0.617																																																0			19											234.0	224.0	227.0					19																	5831396		876	1991	2867	5782396	SO:0001624	3_prime_UTR_variant	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.*103C>G	19.37:g.5831396G>C			5782396	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	HMMPfam_Glyco_transf_10	p.P364R	ENST00000318336.4	37	c.1091	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	G	2.147	-0.395427	0.04899	.	.	ENSG00000156413	ENST00000341530	.	.	.	1.1	-0.071	0.13745	.	1.730580	0.04561	U	0.391621	T	0.24812	0.0602	.	.	.	0.19575	N	0.999962	D	0.58620	0.983	B	0.40825	0.341	T	0.29822	-0.9999	8	0.87932	D	0	.	5.4206	0.16398	0.2235:0.0:0.7765:0.0	.	364	C9J8A2	.	R	364	.	ENSP00000344210:P364R	P	-	2	0	FUT6	5782396	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	-0.027000	0.12371	0.013000	0.14918	0.436000	0.28706	CCT	-	NULL		0.617	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	protein_coding	OTTHUMT00000394218.2	G	NM_000150		5782396	-1	no_errors	ENST00000341530	ensembl	human	known	54_36p	missense	SNP	0.062	C
BMP2	650	genome.wustl.edu	37	20	6759301	6759301	+	Silent	SNP	A	A	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr20:6759301A>G	ENST00000378827.4	+	3	1975	c.756A>G	c.(754-756)caA>caG	p.Q252Q		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	252					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CTTTGCACCAAGATGAACACA	0.483																																																0			20											71.0	58.0	62.0					20																	6759301		2203	4300	6503	6707301	SO:0001819	synonymous_variant	650				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.756A>G	20.37:g.6759301A>G			6707301		Silent	SNP	HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1	p.Q252	ENST00000378827.4	37	c.756	CCDS13099.1	20																																																																																			-	HMMPfam_TGFb_propeptide		0.483	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	protein_coding	OTTHUMT00000077918.3	A			6707301	+1	no_errors	NM_001200	genbank	human	reviewed	54_36p	silent	SNP	0.999	G
TP53	7157	genome.wustl.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGGCGGGGGTGTGGAATCA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	17	GRCh37	CM012662|CM941326	TP53	M	rs28934874						55.0	55.0	55.0					17																	7578479		2203	4300	6503	7519204	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser		7519204	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.P151S	ENST00000269305.4	37	c.451	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519204	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
Unknown	0	genome.wustl.edu	37	18	13919663	13919663	+	IGR	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr18:13919663C>T								MC2R (4124 upstream) : ZNF519 (156322 downstream)																							ATGCTTGCATCTTTTAATAGC	0.403																																																0			18																																								13909663	SO:0001628	intergenic_variant	284230																															18.37:g.13919663C>T			13909663		Missense_Mutation	SNP	superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44	p.R87K		37	c.260		18																																																																																			-	superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L44	0	0.403					LOC284230			C			13909663	-1	pseudogene	XM_208185	genbank	human	model	54_36p	missense	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22157545	22157545	+	Silent	SNP	G	G	A	rs112494360	byFrequency	TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:22157545G>A	ENST00000374695.3	-	85	11680	c.11601C>T	c.(11599-11601)taC>taT	p.Y3867Y	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3867	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGACGCACACGTAGCTGCTGC	0.632													g|||	145	0.0289537	0.0015	0.0231	5008	,	,		14817	0.0		0.0398	False		,,,				2504	0.089															0			1								34,4364		0,34,2165	24.0	26.0	25.0		11601	2.3	0.8	1	dbSNP_132	25	409,8179		10,389,3895	no	coding-synonymous	HSPG2	NM_005529.5		10,423,6060	AA,AG,GG		4.7625,0.7731,3.4114		3867/4392	22157545	443,12543	2199	4294	6493	22030132	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11601C>T	1.37:g.22157545G>A			22030132	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMSmart_SM00281,HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_EGF,HMMPfam_Laminin_G_1	p.Y3867	ENST00000374695.3	37	c.11601	CCDS30625.1	1																																																																																			-	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22030132	-1	no_errors	NM_005529	genbank	human	validated	54_36p	silent	SNP	1.000	A
DDX11	1663	genome.wustl.edu	37	12	31256818	31256818	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:31256818C>G	ENST00000407793.2	+	27	3015	c.2764C>G	c.(2764-2766)Ccg>Gcg	p.P922A	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922A|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGTCCTGCCCGCTGGAGAC	0.612										Multiple Myeloma(12;0.14)																																						0			12											71.0	73.0	72.0					12																	31256818		2203	4300	6503	31148085	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2764C>G	12.37:g.31256818C>G	ENSP00000384703:p.Pro922Ala		31148085	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00491	p.P922A	ENST00000407793.2	37	c.2764	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159472	0.09236	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72394	-0.65;-0.65	1.32	1.32	0.21799	.	.	.	.	.	T	0.43033	0.1229	N	0.08118	0	0.20638	N	0.999876	B	0.13145	0.007	B	0.08055	0.003	T	0.26189	-1.0110	9	0.10636	T	0.68	.	6.103	0.20057	0.0:1.0:0.0:0.0	.	922	Q96FC9	DDX11_HUMAN	A	922	ENSP00000384703:P922A;ENSP00000440402:P922A	ENSP00000384703:P922A	P	+	1	0	DDX11	31148085	0.000000	0.05858	0.017000	0.16124	0.011000	0.07611	-0.158000	0.10070	1.039000	0.40074	0.173000	0.16961	CCG	-	NULL		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31148085	+1	no_errors	NM_152438	genbank	human	reviewed	54_36p	missense	SNP	0.060	G
XDH	7498	genome.wustl.edu	37	2	31588862	31588862	+	Silent	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:31588862T>A	ENST00000379416.3	-	22	2484	c.2436A>T	c.(2434-2436)gcA>gcT	p.A812A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	812					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCAGGGCCACTGCCGTGGACA	0.537																																					Colon(66;682 1445 30109 40147)											0			2											85.0	83.0	84.0					2																	31588862		2203	4300	6503	31442366	SO:0001819	synonymous_variant	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2436A>T	2.37:g.31588862T>A			31442366	Q16681|Q16712|Q4PJ16	Silent	SNP	superfamily_Ferredoxin,HMMPfam_Fer2,PatternScan_2FE2S_FER_1,HMMPfam_Fer2_2,superfamily_2Fe-2S_bind,superfamily_FAD-binding_2,HMMPfam_FAD_binding_5,superfamily_CO_deh_flav_C,HMMPfam_CO_deh_flav_C,superfamily_Aldxan_dh_hamm,HMMPfam_Ald_Xan_dh_C,superfamily_Ald_xan_DH_mo_bd,HMMPfam_Ald_Xan_dh_C2,PatternScan_MOLYBDOPTERIN_EUK	p.A812	ENST00000379416.3	37	c.2436	CCDS1775.1	2																																																																																			-	superfamily_Ald_xan_DH_mo_bd,HMMPfam_Ald_Xan_dh_C2,PatternScan_MOLYBDOPTERIN_EUK		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	protein_coding	OTTHUMT00000216840.1	T	NM_000379		31442366	-1	no_errors	NM_000379	genbank	human	reviewed	54_36p	silent	SNP	0.041	A
SYNRG	11276	genome.wustl.edu	37	17	35902381	35902381	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:35902381G>A	ENST00000339208.6	-	15	3035	c.2895C>T	c.(2893-2895)gcC>gcT	p.A965A	SYNRG_ENST00000394378.2_Silent_p.A887A|SYNRG_ENST00000585472.1_Silent_p.A886A|SYNRG_ENST00000502449.2_Silent_p.A842A|SYNRG_ENST00000346661.4_Silent_p.A965A|SYNRG_ENST00000345615.4_Silent_p.A887A|SYNRG_ENST00000591288.1_Silent_p.A759A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	965					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTTAAAACTGGCAAGAGCTG	0.438																																																0			17											116.0	115.0	115.0					17																	35902381		2203	4300	6503	32976494	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2895C>T	17.37:g.35902381G>A			32976494	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	HMMSmart_SM00027,superfamily_EF-hand	p.A965	ENST00000339208.6	37	c.2895	CCDS11321.1	17																																																																																			-	NULL		0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP1GBP1	protein_coding	OTTHUMT00000256811.2	G	NM_007247		32976494	-1	no_errors	NM_007247	genbank	human	reviewed	54_36p	silent	SNP	0.997	A
RNF122	79845	genome.wustl.edu	37	8	33408878	33408878	+	Missense_Mutation	SNP	C	C	T	rs267601903		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:33408878C>T	ENST00000256257.1	-	3	613	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	71						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		ATATCCGTATCGCTCACTCTG	0.498																																																0			8											162.0	132.0	142.0					8																	33408878		2203	4300	6503	33528420	SO:0001583	missense	79845			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.212G>A	8.37:g.33408878C>T	ENSP00000256257:p.Arg71Gln		33528420	Q52LK3	Missense_Mutation	SNP	PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4	p.R71Q	ENST00000256257.1	37	c.212	CCDS6091.1	8	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438805	0.62955	.	.	ENSG00000133874	ENST00000256257	T	0.34275	1.37	5.88	5.88	0.94601	.	0.060916	0.64402	D	0.000002	T	0.24470	0.0593	L	0.27053	0.805	0.58432	D	0.999999	P	0.36412	0.552	B	0.22753	0.041	T	0.03739	-1.1008	10	0.26408	T	0.33	-9.7067	18.0153	0.89238	0.0:1.0:0.0:0.0	.	71	Q9H9V4	RN122_HUMAN	Q	71	ENSP00000256257:R71Q	ENSP00000256257:R71Q	R	-	2	0	RNF122	33528420	0.913000	0.31002	1.000000	0.80357	0.987000	0.75469	4.178000	0.58284	2.782000	0.95742	0.655000	0.94253	CGA	-	NULL		0.498	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF122	protein_coding	OTTHUMT00000376562.1	C	NM_024787		33528420	-1	no_errors	NM_024787	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LETM2	137994	genome.wustl.edu	37	8	38250299	38250299	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:38250299C>G	ENST00000379957.4	+	3	414	c.287C>G	c.(286-288)gCc>gGc	p.A96G	LETM2_ENST00000524874.1_Missense_Mutation_p.A96G|LETM2_ENST00000519476.2_Missense_Mutation_p.A96G|LETM2_ENST00000297720.5_Missense_Mutation_p.A49G|LETM2_ENST00000523983.2_Missense_Mutation_p.A49G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	96						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTGGAGCAAGCCACAAAACAT	0.443																																																0			8											52.0	50.0	50.0					8																	38250299		2203	4300	6503	38369456	SO:0001583	missense	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.287C>G	8.37:g.38250299C>G	ENSP00000369291:p.Ala96Gly		38369456	A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	HMMPfam_LETM1	p.A49G	ENST00000379957.4	37	c.146		8	.	.	.	.	.	.	.	.	.	.	C	7.584	0.669301	0.14776	.	.	ENSG00000165046	ENST00000527334;ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000526356	.	.	.	5.66	1.72	0.24424	.	1.288740	0.04968	N	0.463328	T	0.22003	0.0530	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.24258	0.026;0.0;0.1	B;B;B	0.20384	0.006;0.0;0.029	T	0.19289	-1.0310	9	0.23891	T	0.37	.	1.6991	0.02868	0.2435:0.421:0.178:0.1575	.	96;96;96	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	G	96;96;49;96;96;49;96	.	ENSP00000297720:A49G	A	+	2	0	LETM2	38369456	0.000000	0.05858	0.005000	0.12908	0.153000	0.21895	-0.078000	0.11375	0.029000	0.15352	0.655000	0.94253	GCC	-	NULL		0.443	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	protein_coding	OTTHUMT00000381816.1	C	NM_144652		38369456	+1	no_errors	NM_144652	genbank	human	provisional	54_36p	missense	SNP	0.000	G
EGFLAM	133584	genome.wustl.edu	37	5	38407095	38407095	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr5:38407095G>A	ENST00000354891.3	+	8	1340	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	EGFLAM_ENST00000322350.5_Missense_Mutation_p.G332R|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G98R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	332					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGAGAAAGGGGAAGAATGG	0.512																																					Colon(62;485 1295 3347 17454)											0			5											143.0	135.0	138.0					5																	38407095		2203	4300	6503	38442852	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.994G>A	5.37:g.38407095G>A	ENSP00000346964:p.Gly332Arg		38442852	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2	p.G332R	ENST00000354891.3	37	c.994	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427395	0.11987	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79033	0.88;0.71;-1.23	5.91	3.9	0.45041	.	0.321093	0.38217	N	0.001772	T	0.58075	0.2097	L	0.34521	1.04	0.24752	N	0.992976	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.11329	0.002;0.003;0.006	T	0.28554	-1.0040	10	0.14252	T	0.57	-20.7271	0.4675	0.00526	0.2606:0.1956:0.3428:0.201	.	98;332;332	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	332;332;98;98	ENSP00000346964:G332R;ENSP00000313084:G332R;ENSP00000337607:G98R	ENSP00000313084:G332R	G	+	1	0	EGFLAM	38442852	0.997000	0.39634	0.098000	0.21074	0.005000	0.04900	2.119000	0.41958	1.501000	0.48654	0.655000	0.94253	GGG	-	NULL		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38442852	+1	no_errors	NM_152403	genbank	human	validated	54_36p	missense	SNP	0.017	A
INO80	54617	genome.wustl.edu	37	15	41348846	41348846	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:41348846T>C	ENST00000361937.3	-	17	2468	c.2044A>G	c.(2044-2046)Acc>Gcc	p.T682A	INO80_ENST00000401393.3_Missense_Mutation_p.T682A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	682	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGAATTGGGGTCCCGGTTAGC	0.403																																																0			15											225.0	220.0	221.0					15																	41348846		2203	4300	6503	39136138	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2044A>G	15.37:g.41348846T>C	ENSP00000355205:p.Thr682Ala		39136138	A6H8X4|Q9NTG6	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C	p.T682A	ENST00000361937.3	37	c.2044	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774674	0.90108	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.99557	-6.16;-6.16	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.94264	3.515	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.97256	0.9901	10	0.87932	D	0	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	682	Q9ULG1	INO80_HUMAN	A	682	ENSP00000355205:T682A;ENSP00000384686:T682A	ENSP00000355205:T682A	T	-	1	0	INO80	39136138	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.815000	0.86186	2.157000	0.67596	0.482000	0.46254	ACC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N		0.403	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	protein_coding	OTTHUMT00000252527.2	T	NM_017553		39136138	-1	no_errors	NM_017553	genbank	human	validated	54_36p	missense	SNP	1.000	C
ADAM2	2515	genome.wustl.edu	37	8	39624712	39624712	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:39624712C>A	ENST00000265708.4	-	13	1374	c.1271G>T	c.(1270-1272)gGt>gTt	p.G424V	ADAM2_ENST00000521880.1_Missense_Mutation_p.G424V|ADAM2_ENST00000347580.4_Missense_Mutation_p.G405V|ADAM2_ENST00000379853.2_Missense_Mutation_p.G298V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	424	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACAGTTTGAACCGGCTTTAAA	0.358																																																0			8											176.0	168.0	171.0					8																	39624712		2203	4300	6503	39743869	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1271G>T	8.37:g.39624712C>A	ENSP00000265708:p.Gly424Val		39743869	P78326|Q9UQQ8	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2"	p.G424V	ENST00000265708.4	37	c.1271	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563607	0.45694	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.82	-3.36	0.04913	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.41190	0.1148	H	0.97564	4.03	0.18873	N	0.999984	P;D;D;D	0.58620	0.915;0.983;0.961;0.969	P;P;P;P	0.61201	0.703;0.885;0.706;0.806	T	0.21484	-1.0244	8	.	.	.	.	5.155	0.15031	0.0:0.3178:0.2642:0.418	.	424;298;405;424	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	V	405;298;424;424	ENSP00000343854:G405V;ENSP00000369182:G298V;ENSP00000265708:G424V;ENSP00000429352:G424V	.	G	-	2	0	ADAM2	39743869	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.079000	0.11357	-1.068000	0.03156	0.655000	0.94253	GGT	-	HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin)		0.358	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	protein_coding	OTTHUMT00000376926.1	C	NM_001464		39743869	-1	no_errors	NM_001464	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
TMEM87A	25963	genome.wustl.edu	37	15	42528530	42528530	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:42528530T>C	ENST00000389834.4	-	10	1220	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	TMEM87A_ENST00000448392.1_Missense_Mutation_p.Y258C	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	319						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GACGATGCCATATCCCAGACT	0.408																																																0			15											186.0	185.0	185.0					15																	42528530		2203	4299	6502	40315822	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.956A>G	15.37:g.42528530T>C	ENSP00000374484:p.Tyr319Cys		40315822	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	HMMPfam_Lung_7-TM_R	p.Y319C	ENST00000389834.4	37	c.956	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	T	24.6	4.543947	0.86022	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.87080	0.2165	9	0.87932	D	0	-11.7445	15.2449	0.73499	0.0:0.0:0.0:1.0	.	319;258	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	C	319;258;295	.	ENSP00000374484:Y319C	Y	-	2	0	TMEM87A	40315822	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.013000	0.88655	1.999000	0.58509	0.383000	0.25322	TAT	-	HMMPfam_Lung_7-TM_R		0.408	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	protein_coding	OTTHUMT00000420482.2	T	NM_015497		40315822	-1	no_errors	NM_015497	genbank	human	validated	54_36p	missense	SNP	1.000	C
SLC8A1	6546	genome.wustl.edu	37	2	40656955	40656955	+	Missense_Mutation	SNP	C	C	T	rs34034084		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:40656955C>T	ENST00000403092.1	-	2	499	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V156M|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V156M|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V156M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V156M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	156					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCCACACACTTCAATTACT	0.458																																																0			2											130.0	116.0	120.0					2																	40656955		2203	4300	6503	40510459	SO:0001583	missense	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.466G>A	2.37:g.40656955C>T	ENSP00000384763:p.Val156Met		40510459	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex,HMMPfam_Calx-beta,HMMSmart_SM00237	p.V156M	ENST00000403092.1	37	c.466	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673817	0.47781	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.59	4.71	0.59529	Sodium/calcium exchanger membrane region (1);	0.118949	0.56097	D	0.000031	D	0.83723	0.5316	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.76494	0.98;0.997;0.991;0.999;0.984	D;D;D;D;D	0.87578	0.97;0.998;0.978;0.977;0.987	D	0.86811	0.1998	10	0.87932	D	0	.	13.5828	0.61913	0.1566:0.8434:0.0:0.0	.	156;156;156;156;156	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	M	156	ENSP00000383886:V156M;ENSP00000440727:V156M;ENSP00000384763:V156M;ENSP00000385678:V156M;ENSP00000385188:V156M;ENSP00000385535:V156M;ENSP00000332931:V156M;ENSP00000384908:V156M;ENSP00000385811:V156M;ENSP00000443515:V156M	ENSP00000332931:V156M	V	-	1	0	SLC8A1	40510459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.713000	0.54882	1.351000	0.45789	0.563000	0.77884	GTG	-	HMMPfam_Na_Ca_ex		0.458	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	protein_coding	OTTHUMT00000326065.1	C	NM_021097		40510459	-1	no_errors	NM_021097	genbank	human	validated	54_36p	missense	SNP	1.000	T
CCNDBP1	23582	genome.wustl.edu	37	15	43478386	43478386	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:43478386G>A	ENST00000300213.4	+	3	446	c.204G>A	c.(202-204)acG>acA	p.T68T	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR|RP11-473C18.3_ENST00000565685.1_RNA	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	68	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GGGAAGCCACGACTCTGACCA	0.562																																																0			15											112.0	97.0	102.0					15																	43478386		2203	4299	6502	41265678	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.204G>A	15.37:g.43478386G>A			41265678	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	NULL	p.T68	ENST00000300213.4	37	c.204	CCDS10092.1	15																																																																																			-	NULL		0.562	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNDBP1	protein_coding	OTTHUMT00000253203.1	G	NM_012142		41265678	+1	no_errors	NM_012142	genbank	human	reviewed	54_36p	silent	SNP	0.883	A
GPR34	2857	genome.wustl.edu	37	X	41554987	41554987	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chrX:41554987C>T	ENST00000378142.4	+	3	385	c.101C>T	c.(100-102)cCa>cTa	p.P34L	CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.P34L|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	34					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GACCAACCGCCACAAAACTTC	0.428																																																0			X											100.0	78.0	86.0					X																	41554987		2203	4300	6503	41439931	SO:0001583	missense	2857			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.101C>T	X.37:g.41554987C>T	ENSP00000367384:p.Pro34Leu		41439931	O95853	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P34L	ENST00000378142.4	37	c.101	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	C	1.098	-0.661936	0.03454	.	.	ENSG00000171659	ENST00000378142;ENST00000378138	T;T	0.73047	-0.71;-0.71	5.86	3.96	0.45880	.	0.759512	0.12430	N	0.469679	T	0.56321	0.1977	L	0.53249	1.67	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48019	-0.9071	10	0.07813	T	0.8	-3.6845	2.7258	0.05213	0.1692:0.5248:0.142:0.164	.	34	Q9UPC5	GPR34_HUMAN	L	34	ENSP00000367384:P34L;ENSP00000367378:P34L	ENSP00000367378:P34L	P	+	2	0	GPR34	41439931	0.000000	0.05858	0.005000	0.12908	0.047000	0.14425	-0.052000	0.11865	2.472000	0.83506	0.594000	0.82650	CCA	-	superfamily_Family A G protein-coupled receptor-like		0.428	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	protein_coding	OTTHUMT00000056264.1	C	NM_005300		41439931	+1	no_errors	NM_001097579	genbank	human	validated	54_36p	missense	SNP	0.000	T
LRCH1	23143	genome.wustl.edu	37	13	47262009	47262009	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr13:47262009A>C	ENST00000389798.3	+	6	1042	c.845A>C	c.(844-846)cAc>cCc	p.H282P	LRCH1_ENST00000311191.6_Missense_Mutation_p.H282P|LRCH1_ENST00000389797.3_Missense_Mutation_p.H282P	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	282										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGCAAAGTTCACATATTTAAG	0.363																																																0			13											77.0	80.0	79.0					13																	47262009		2203	4300	6503	46160010	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.845A>C	13.37:g.47262009A>C	ENSP00000374448:p.His282Pro		46160010	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033	p.H282P	ENST00000389798.3	37	c.845	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187223	0.78789	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T;T	0.19105	2.46;2.46;2.46;2.17	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.91663	3.23	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.259	D;D;D;B	0.97110	0.997;1.0;0.999;0.216	T	0.66015	-0.6028	10	0.72032	D	0.01	-4.5544	14.8613	0.70384	1.0:0.0:0.0:0.0	.	282;282;282;282	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	P	282;282;282;28;28	ENSP00000308493:H282P;ENSP00000374448:H282P;ENSP00000374447:H282P;ENSP00000419256:H28P	ENSP00000308493:H282P	H	+	2	0	LRCH1	46160010	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.586000	0.90806	2.179000	0.69175	0.477000	0.44152	CAC	-	superfamily_L domain-like		0.363	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	protein_coding	OTTHUMT00000044824.2	A	NM_015116		46160010	+1	no_errors	NM_015116	genbank	human	provisional	54_36p	missense	SNP	1.000	C
ATP8B4	79895	genome.wustl.edu	37	15	50271866	50271866	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:50271866A>G	ENST00000284509.6	-	12	1123	c.982T>C	c.(982-984)Tgg>Cgg	p.W328R	ATP8B4_ENST00000558959.1_5'UTR|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Missense_Mutation_p.W328R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	328						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATATATGACCAGAATGTTAAG	0.338																																																0			15											107.0	121.0	116.0					15																	50271866		2196	4295	6491	48059158	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.982T>C	15.37:g.50271866A>G	ENSP00000284509:p.Trp328Arg		48059158	Q9H727	Missense_Mutation	SNP	superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3	p.W328R	ENST00000284509.6	37	c.982	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388770	0.82902	.	.	ENSG00000104043	ENST00000284509	D	0.90324	-2.65	5.68	5.68	0.88126	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97845	1.0271	10	0.87932	D	0	.	13.927	0.63968	1.0:0.0:0.0:0.0	.	328	Q8TF62	AT8B4_HUMAN	R	328	ENSP00000284509:W328R	ENSP00000284509:W328R	W	-	1	0	ATP8B4	48059158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.180000	0.69256	0.529000	0.55759	TGG	-	superfamily_SSF81665,HMMPfam_E1-E2_ATPase		0.338	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	protein_coding	OTTHUMT00000418100.1	A	NM_024837		48059158	-1	no_errors	NM_024837	genbank	human	validated	54_36p	missense	SNP	1.000	G
ASIC1	41	genome.wustl.edu	37	12	50473717	50473717	+	Missense_Mutation	SNP	G	G	T	rs199923697		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:50473717G>T	ENST00000447966.2	+	8	1313	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	ASIC1_ENST00000228468.4_Missense_Mutation_p.V362L|ASIC1_ENST00000552438.1_Missense_Mutation_p.V396L	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	362					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGAGTACTGCGTGTGTGAAAT	0.552																																																0			12											182.0	149.0	160.0					12																	50473717		2203	4300	6503	48759984	SO:0001583	missense	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1084G>T	12.37:g.50473717G>T	ENSP00000400228:p.Val362Leu		48759984	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	HMMPfam_ASC,PatternScan_ASC	p.V362L	ENST00000447966.2	37	c.1084	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857933	0.51376	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.64991	-0.13;-0.13;-0.13	4.74	4.74	0.60224	.	0.146699	0.44285	D	0.000469	T	0.52693	0.1750	L	0.41710	1.295	0.51767	D	0.999935	B;B	0.20887	0.0;0.049	B;B	0.28305	0.003;0.088	T	0.43988	-0.9357	10	0.15499	T	0.54	-31.4046	13.665	0.62389	0.077:0.0:0.923:0.0	.	362;362	P78348;P78348-1	ACCN2_HUMAN;.	L	362;362;396	ENSP00000228468:V362L;ENSP00000400228:V362L;ENSP00000450247:V396L	ENSP00000228468:V362L	V	+	1	0	ACCN2	48759984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.215000	0.51169	2.653000	0.90120	0.561000	0.74099	GTG	-	HMMPfam_ASC		0.552	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCN2	protein_coding	OTTHUMT00000406004.2	G	NM_020039		48759984	+1	no_errors	NM_020039	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZFYVE9	9372	genome.wustl.edu	37	1	52747334	52747334	+	Splice_Site	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:52747334T>A	ENST00000371591.1	+	9	3002	c.2871T>A	c.(2869-2871)taT>taA	p.Y957*	ZFYVE9_ENST00000287727.3_Splice_Site_p.Y957*|ZFYVE9_ENST00000357206.2_Splice_Site_p.Y898*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	957					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CATCTGTAGATGTGAACAGGA	0.368																																																0			1											130.0	113.0	118.0					1																	52747334		2203	4300	6503	52519922	SO:0001630	splice_region_variant	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2870-1T>A	1.37:g.52747334T>A			52519922	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger	p.Y957*	ENST00000371591.1	37	c.2871	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	T	41	8.583145	0.98872	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	4.93	4.93	0.64822	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7338	0.69402	0.0:0.0:0.0:1.0	.	.	.	.	X	898;957;957	.	ENSP00000287727:Y957X	Y	+	3	2	ZFYVE9	52519922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.006000	0.49529	2.062000	0.61559	0.482000	0.46254	TAT	-	NULL		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	T	NM_007324	Nonsense_Mutation	52519922	+1	no_errors	NM_004799	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
SLC6A2	6530	genome.wustl.edu	37	16	55729189	55729189	+	Splice_Site	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr16:55729189G>T	ENST00000379906.2	+	7	1277		c.e7-1		SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000561820.1_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCCCCCAGGGATGCCCTG	0.557																																																0			16											164.0	112.0	130.0					16																	55729189		2198	4300	6498	54286690	SO:0001630	splice_region_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1023-1G>T	16.37:g.55729189G>T			54286690	B2R707|B4DX48|Q96KH8	Splice_Site	SNP	-	e7-1	ENST00000379906.2	37	c.1023-1	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419244	0.83559	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8908	0.88871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A2	54286690	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.107000	0.94261	2.407000	0.81776	0.650000	0.86243	.	-	-		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	protein_coding	OTTHUMT00000256922.2	G		Intron	54286690	+1	no_errors	NM_001043	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55721637	55721637	+	Missense_Mutation	SNP	G	G	A	rs201816080	byFrequency	TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:55721637G>A	ENST00000320301.6	-	22	3278	c.2884C>T	c.(2884-2886)Cgt>Tgt	p.R962C	PCDH15_ENST00000409834.1_Missense_Mutation_p.R573C|PCDH15_ENST00000373965.2_Missense_Mutation_p.R969C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R967C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R891C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R962C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R962C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R925C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R969C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R940C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R962C|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	962	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTCACACGACTTGCAGGT	0.313										HNSCC(58;0.16)			G|||	7	0.00139776	0.0	0.0	5008	,	,		12730	0.006		0.0	False		,,,				2504	0.001															0			10											84.0	83.0	84.0					10																	55721637		2203	4299	6502	55391643	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2884C>T	10.37:g.55721637G>A	ENSP00000322604:p.Arg962Cys		55391643	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin	p.R962C	ENST00000320301.6	37	c.2884	CCDS7248.1	10	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	15.18	2.756703	0.49362	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.04	4.13	0.48395	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68522	0.3010	M	0.89601	3.045	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.995;1.0;0.999;1.0;0.984;0.995;0.995;0.999;0.997;0.999	D;P;P;P;D;P;D;P;P;P;P;D;D	0.72625	0.969;0.892;0.892;0.86;0.978;0.892;0.969;0.849;0.86;0.86;0.892;0.93;0.93	T	0.76683	-0.2869	9	0.62326	D	0.03	.	11.4617	0.50215	0.0:0.0:0.556:0.444	.	940;962;962;967;891;925;962;962;969;969;962;967;962	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	969;967;962;962;573;969;925;962;940;962;962;967;891	ENSP00000363076:R969C;ENSP00000410304:R967C;ENSP00000378826:R962C;ENSP00000386693:R573C;ENSP00000378832:R969C;ENSP00000378820:R925C;ENSP00000354950:R962C;ENSP00000378821:R940C;ENSP00000322604:R962C;ENSP00000378818:R962C;ENSP00000412628:R891C	ENSP00000322604:R962C	R	-	1	0	PCDH15	55391643	0.988000	0.35896	1.000000	0.80357	0.851000	0.48451	1.459000	0.35234	1.102000	0.41551	0.467000	0.42956	CGT	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55391643	-1	no_errors	NM_033056	genbank	human	reviewed	54_36p	missense	SNP	0.933	A
EFEMP1	2202	genome.wustl.edu	37	2	56145019	56145019	+	Missense_Mutation	SNP	C	C	A	rs150201810		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:56145019C>A	ENST00000394555.2	-	4	733	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	EFEMP1_ENST00000394554.1_Missense_Mutation_p.G100W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.G42W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.G100W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	100					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)			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)			GCTACAACCCCGGTGGTTGCC	0.562																																					GBM(92;934 1319 7714 28760 40110)											0			2											83.0	84.0	83.0					2																	56145019		2203	4300	6503	55998523	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.298G>T	2.37:g.56145019C>A	ENSP00000378058:p.Gly100Trp		55998523	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.G100W	ENST00000394555.2	37	c.298	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088393	0.55968	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672;ENST00000439193;ENST00000440439	D;D;T;D;T;T;T	0.84516	-1.86;-1.86;-1.37;-1.86;-1.28;-1.25;-1.17	4.48	4.48	0.54585	.	0.000000	0.45867	D	0.000325	D	0.83492	0.5266	N	0.08118	0	0.24575	N	0.99391	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76443	-0.2957	10	0.72032	D	0.01	.	12.9721	0.58517	0.0:1.0:0.0:0.0	.	42;100	B4DW75;Q12805	.;FBLN3_HUMAN	W	100;100;42;100;100;100;100	ENSP00000378058:G100W;ENSP00000378057:G100W;ENSP00000399145:G42W;ENSP00000347596:G100W;ENSP00000392055:G100W;ENSP00000408195:G100W;ENSP00000398345:G100W	ENSP00000347596:G100W	G	-	1	0	EFEMP1	55998523	0.248000	0.23930	0.428000	0.26697	0.741000	0.42261	0.441000	0.21611	2.785000	0.95823	0.650000	0.86243	GGG	-	NULL		0.562	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	protein_coding	OTTHUMT00000251491.2	C			55998523	-1	no_errors	NM_001039348	genbank	human	reviewed	54_36p	missense	SNP	0.008	A
Unknown	0	genome.wustl.edu	37	11	56458182	56458182	+	IGR	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr11:56458182C>A								OR5AR1 (26019 upstream) : OR9G1 (9681 downstream)																							GATGACATTCCAGACTTTGAT	0.463																																																0			11																																								56214758	SO:0001628	intergenic_variant	642975																															11.37:g.56458182C>A			56214758		RNA	SNP	-	NULL		37	NULL		11																																																																																			-	-	0	0.463					LOC642975			C			56214758	+1	pseudogene	XR_016156	genbank	human	model	54_36p	rna	SNP	1.000	A
FLNB	2317	genome.wustl.edu	37	3	58062868	58062868	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:58062868G>C	ENST00000295956.4	+	2	553	c.388G>C	c.(388-390)Gat>Cat	p.D130H	FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000358537.3_Missense_Mutation_p.D130H|FLNB_ENST00000348383.5_Missense_Mutation_p.D130H|FLNB_ENST00000357272.4_Missense_Mutation_p.D130H|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000429972.2_Missense_Mutation_p.D130H|FLNB_ENST00000490882.1_Missense_Mutation_p.D130H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	130	Actin-binding.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTGTGGGAGGATGAAGGGGA	0.537																																																0			3											111.0	103.0	106.0					3																	58062868		2203	4300	6503	58037908	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.388G>C	3.37:g.58062868G>C	ENSP00000295956:p.Asp130His		58037908	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN	p.D130H	ENST00000295956.4	37	c.388	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625825	0.87560	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.04	5.04	0.67666	Calponin homology domain (2);	0.046036	0.85682	D	0.000000	D	0.96027	0.8706	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.60160	0.987;0.958;0.977;0.977	P;P;B;B	0.50537	0.643;0.602;0.44;0.44	D	0.96480	0.9355	10	0.72032	D	0.01	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	130;130;130;130	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	H	130	ENSP00000295956:D130H;ENSP00000420213:D130H;ENSP00000351339:D130H;ENSP00000415599:D130H;ENSP00000232447:D130H;ENSP00000349819:D130H	ENSP00000295956:D130H	D	+	1	0	FLNB	58037908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.496000	0.84212	0.455000	0.32223	GAT	-	superfamily_Calponin-homology		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58037908	+1	no_errors	NM_001457	genbank	human	validated	54_36p	missense	SNP	1.000	C
PRICKLE2	166336	genome.wustl.edu	37	3	64085383	64085383	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:64085383G>C	ENST00000295902.6	-	8	2464	c.1879C>G	c.(1879-1881)Ccc>Gcc	p.P627A	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P683A|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	627					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TAGCCAATGGGGTTGCTGAGC	0.592																																																0			3											114.0	104.0	107.0					3																	64085383		2203	4300	6503	64060423	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1879C>G	3.37:g.64085383G>C	ENSP00000295902:p.Pro627Ala		64060423	Q0VF44	Missense_Mutation	SNP	HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716	p.P627A	ENST00000295902.6	37	c.1879	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560907	0.27827	.	.	ENSG00000163637	ENST00000295902	D	0.84298	-1.83	5.62	4.74	0.60224	.	0.158265	0.45126	D	0.000390	T	0.76364	0.3977	L	0.36672	1.1	0.41148	D	0.986009	B	0.30406	0.278	B	0.24974	0.057	T	0.73811	-0.3865	10	0.44086	T	0.13	-33.2305	9.2988	0.37833	0.0719:0.0:0.7822:0.1459	.	627	Q7Z3G6	PRIC2_HUMAN	A	627	ENSP00000295902:P627A	ENSP00000295902:P627A	P	-	1	0	PRICKLE2	64060423	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.534000	0.60622	1.356000	0.45884	0.591000	0.81541	CCC	-	NULL		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859		64060423	-1	no_errors	NM_198859	genbank	human	validated	54_36p	missense	SNP	0.998	C
ABCA10	10349	genome.wustl.edu	37	17	67160240	67160240	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr17:67160240T>G	ENST00000269081.4	-	28	4247	c.3338A>C	c.(3337-3339)aAa>aCa	p.K1113T	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1113					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGAATGGTTTTATTGACTTC	0.313																																																0			17											65.0	68.0	67.0					17																	67160240		2202	4296	6498	64671835	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3338A>C	17.37:g.67160240T>G	ENSP00000269081:p.Lys1113Thr		64671835	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.K1113T	ENST00000269081.4	37	c.3338	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	2.645	-0.283327	0.05642	.	.	ENSG00000154263	ENST00000269081	D	0.87179	-2.22	2.92	2.92	0.33932	.	1.211790	0.06654	U	0.763267	T	0.81069	0.4746	L	0.38175	1.15	0.20074	N	0.999934	B;B	0.19331	0.035;0.03	B;B	0.25987	0.065;0.007	T	0.64748	-0.6334	10	0.17369	T	0.5	.	7.3244	0.26547	0.0:0.0:0.0:1.0	.	105;1113	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	T	1113	ENSP00000269081:K1113T	ENSP00000269081:K1113T	K	-	2	0	ABCA10	64671835	0.006000	0.16342	0.001000	0.08648	0.039000	0.13416	1.835000	0.39181	1.211000	0.43351	0.460000	0.39030	AAA	-	NULL		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	protein_coding	OTTHUMT00000379881.4	T	NM_080282		64671835	-1	no_errors	NM_080282	genbank	human	reviewed	54_36p	missense	SNP	0.003	G
CATSPER1	117144	genome.wustl.edu	37	11	65793839	65793839	+	Silent	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr11:65793839G>A	ENST00000312106.5	-	1	149	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	4					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGCACTGAGTTTTGATCCA	0.547																																																0			11											116.0	99.0	105.0					11																	65793839		2201	4296	6497	65550415	SO:0001819	synonymous_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.12C>T	11.37:g.65793839G>A			65550415	Q96P76	Silent	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.N4	ENST00000312106.5	37	c.12	CCDS8127.1	11																																																																																			-	NULL		0.547	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	G	NM_053054		65550415	-1	no_errors	NM_053054	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
PCDH9	5101	genome.wustl.edu	37	13	67800287	67800287	+	Silent	SNP	C	C	T	rs140996034		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr13:67800287C>T	ENST00000377865.2	-	1	2420	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	PCDH9_ENST00000328454.5_Silent_p.K762K|PCDH9_ENST00000377861.3_Silent_p.K762K|PCDH9_ENST00000456367.1_Silent_p.K762K|PCDH9_ENST00000544246.1_Silent_p.K762K			Q9HC56	PCDH9_HUMAN	protocadherin 9	762	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGCAAAGACTTAGGGTACC	0.458																																																0			13											134.0	124.0	128.0					13																	67800287		2203	4300	6503	66698288	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2286G>A	13.37:g.67800287C>T			66698288	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMPfam_Protocadherin	p.K762	ENST00000377865.2	37	c.2286	CCDS9444.1	13																																																																																			-	superfamily_Cadherin-like,HMMSmart_SM00112		0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	C	NM_203487		66698288	-1	no_errors	NM_203487	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
COL13A1	1305	genome.wustl.edu	37	10	71654430	71654430	+	Splice_Site	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:71654430G>C	ENST00000398978.3	+	11	1095		c.e11-1		COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398969.3_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398972.3_Splice_Site|COL13A1_ENST00000398973.3_Splice_Site|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000356340.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000398968.3_Splice_Site	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						TCTCTTTGTAGGGACCCCAGG	0.498																																																0			10											109.0	116.0	114.0					10																	71654430		1872	4108	5980	71324436	SO:0001630	splice_region_variant	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.604-1G>C	10.37:g.71654430G>C			71324436		Splice_Site	SNP	-	e10-1	ENST00000398978.3	37	c.604-1	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927615	0.73327	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1583	0.81680	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL13A1	71324436	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.415000	0.66411	2.627000	0.88993	0.650000	0.86243	.	-	-		0.498	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	protein_coding	OTTHUMT00000048468.1	G	NM_005203	Intron	71324436	+1	no_errors	NM_005203	genbank	human	reviewed	54_36p	splice_site	SNP	0.986	C
VCL	7414	genome.wustl.edu	37	10	75874629	75874629	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:75874629C>A	ENST00000211998.4	+	21	3324	c.3230C>A	c.(3229-3231)aCc>aAc	p.T1077N	VCL_ENST00000372755.3_Missense_Mutation_p.T1009N|VCL_ENST00000417648.2_Missense_Mutation_p.T270N	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1077	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTGGGCCGGACCAACATCAGT	0.478																																																0			10											90.0	80.0	83.0					10																	75874629		2203	4299	6502	75544635	SO:0001583	missense	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3230C>A	10.37:g.75874629C>A	ENSP00000211998:p.Thr1077Asn		75544635	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2	p.T1077N	ENST00000211998.4	37	c.3230	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823528	0.71143	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.87	5.87	0.94306	.	0.172417	0.53938	D	0.000047	T	0.53158	0.1779	L	0.32530	0.975	0.80722	D	1	B;D;B;P	0.63046	0.009;0.992;0.125;0.923	B;D;B;D	0.74023	0.006;0.982;0.063;0.942	T	0.30504	-0.9976	10	0.11182	T	0.66	.	20.2032	0.98269	0.0:1.0:0.0:0.0	.	270;936;1009;1077	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	N	1009;1077;270;936;749	ENSP00000361841:T1009N;ENSP00000211998:T1077N;ENSP00000411887:T270N;ENSP00000415489:T749N	ENSP00000211998:T1077N	T	+	2	0	VCL	75544635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.785000	0.95823	0.650000	0.86243	ACC	-	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin		0.478	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	protein_coding		C	NM_003373, NM_014000		75544635	+1	no_errors	NM_014000	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LRIT1	26103	genome.wustl.edu	37	10	85992396	85992396	+	Missense_Mutation	SNP	G	G	C	rs558942918		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:85992396G>C	ENST00000372105.3	-	4	1180	c.1159C>G	c.(1159-1161)Ccc>Gcc	p.P387A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	387						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCGGGTTTGGGAATCTGGGGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.001															0			10											60.0	48.0	52.0					10																	85992396		2203	4300	6503	85982376	SO:0001583	missense	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1159C>G	10.37:g.85992396G>C	ENSP00000361177:p.Pro387Ala		85982376	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like	p.P387A	ENST00000372105.3	37	c.1159	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	2.115	-0.402713	0.04865	.	.	ENSG00000148602	ENST00000372105	T	0.35236	1.32	5.66	3.44	0.39384	.	0.467665	0.24635	N	0.036860	T	0.20088	0.0483	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.08452	-1.0721	10	0.29301	T	0.29	.	3.1986	0.06641	0.1287:0.1822:0.5295:0.1595	.	387	Q9P2V4	LRIT1_HUMAN	A	387	ENSP00000361177:P387A	ENSP00000361177:P387A	P	-	1	0	LRIT1	85982376	0.993000	0.37304	0.005000	0.12908	0.028000	0.11728	2.182000	0.42556	1.355000	0.45865	0.655000	0.94253	CCC	-	NULL		0.607	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85982376	-1	no_errors	NM_015613	genbank	human	validated	54_36p	missense	SNP	0.001	C
RLBP1	6017	genome.wustl.edu	37	15	89758444	89758444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr15:89758444G>T	ENST00000268125.5	-	6	811	c.372C>A	c.(370-372)taC>taA	p.Y124*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	124					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AGAGCTCAGGGTACTGCAGCC	0.597																																																0			15											84.0	77.0	79.0					15																	89758444		2200	4299	6499	87559448	SO:0001587	stop_gained	6017			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.372C>A	15.37:g.89758444G>T	ENSP00000268125:p.Tyr124*		87559448	B2R667	Nonsense_Mutation	SNP	superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516	p.Y124*	ENST00000268125.5	37	c.372	CCDS32324.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.770190	0.98480	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.65	3.72	0.42706	.	0.059550	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9644	9.689	0.40116	0.163:0.0:0.837:0.0	.	.	.	.	X	124	.	ENSP00000268125:Y124X	Y	-	3	2	RLBP1	87559448	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.315000	0.33608	1.070000	0.40811	0.561000	0.74099	TAC	-	superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N		0.597	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLBP1	protein_coding	OTTHUMT00000421135.1	G	NM_000326		87559448	-1	no_errors	NM_000326	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
ZC3H14	79882	genome.wustl.edu	37	14	89068427	89068427	+	Splice_Site	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr14:89068427G>A	ENST00000251038.5	+	11	1739	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	ZC3H14_ENST00000393514.5_Splice_Site_p.R480Q|ZC3H14_ENST00000555755.1_Splice_Site_p.R505Q|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Splice_Site_p.R207Q|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	505						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATGCAGACACGGTAGATGGTT	0.473																																																0			14											166.0	154.0	158.0					14																	89068427		2203	4300	6503	88138180	SO:0001630	splice_region_variant	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1514+1G>A	14.37:g.89068427G>A			88138180	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_SM00356	p.R505Q	ENST00000251038.5	37	c.1514	CCDS32133.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.253853|5.253853	0.95336|0.95336	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900;ENST00000557737	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.393700	.|0.25083	.|N	.|0.033276	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;P	.|0.77557	.|0.99;0.895;0.895	T|T	0.77086|0.77086	-0.2718|-0.2718	5|9	.|0.51188	.|T	.|0.08	-11.3077|-11.3077	18.7402|18.7402	0.91770|0.91770	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|505;505;505	.|G3V5R4;Q6PJT7-2;Q6PJT7	.|.;.;ZC3HE_HUMAN	K|Q	421|505;480;505;505;480;207;182	.|.	.|ENSP00000251038:R505Q	E|R	+|+	1|2	0|0	ZC3H14|ZC3H14	88138180|88138180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.003000|6.003000	0.70701|0.70701	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAG|CGA	-	NULL		0.473	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	protein_coding	OTTHUMT00000410387.1	G	NM_024824	Missense_Mutation	88138180	+1	no_errors	NM_024824	genbank	human	validated	54_36p	missense	SNP	1.000	A
ECM2	1842	genome.wustl.edu	37	9	95264809	95264809	+	Silent	SNP	G	G	C			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr9:95264809G>C	ENST00000344604.5	-	8	1739	c.1590C>G	c.(1588-1590)gcC>gcG	p.A530A	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.A508A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	530					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATTTATCCAGGCTAAAGGAG	0.303																																																0			9											132.0	131.0	131.0					9																	95264809		2201	4300	6501	94304630	SO:0001819	synonymous_variant	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1590C>G	9.37:g.95264809G>C			94304630	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_SSF52058,HMMPfam_LRR_1	p.A530	ENST00000344604.5	37	c.1590	CCDS6698.1	9																																																																																			-	superfamily_SSF52058		0.303	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	protein_coding	OTTHUMT00000053091.1	G	NM_001393		94304630	-1	no_errors	NM_001393	genbank	human	reviewed	54_36p	silent	SNP	0.983	C
PDP1	54704	genome.wustl.edu	37	8	94935575	94935575	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:94935575G>T	ENST00000297598.4	+	2	1557	c.1288G>T	c.(1288-1290)Gtt>Ttt	p.V430F	PDP1_ENST00000396200.3_Missense_Mutation_p.V455F|PDP1_ENST00000520728.1_Missense_Mutation_p.V430F|PDP1_ENST00000517764.1_Missense_Mutation_p.V430F	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	430					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGGATGTGGTTAGGATTGT	0.498																																																0			8											91.0	88.0	89.0					8																	94935575		2203	4300	6503	95004751	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1288G>T	8.37:g.94935575G>T	ENSP00000297598:p.Val430Phe		95004751	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,PatternScan_PP2C,HMMPfam_PP2C	p.V430F	ENST00000297598.4	37	c.1288	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801124	0.70567	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.057071	0.64402	D	0.000002	T	0.66858	0.2832	H	0.95884	3.735	0.80722	D	1	D;D	0.63046	0.992;0.965	D;D	0.68483	0.958;0.909	T	0.76666	-0.2875	10	0.87932	D	0	-20.4708	20.5568	0.99304	0.0:0.0:1.0:0.0	.	481;430	B4DYX8;Q9P0J1	.;PDP1_HUMAN	F	430;430;455;430	ENSP00000297598:V430F;ENSP00000428317:V430F;ENSP00000379503:V455F;ENSP00000430380:V430F	ENSP00000297598:V430F	V	+	1	0	PDP1	95004751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.699000	0.74613	2.861000	0.98227	0.655000	0.94253	GTT	-	superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPM2C	protein_coding	OTTHUMT00000378415.2	G	NM_018444		95004751	+1	no_errors	NM_018444	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KANSL3	55683	genome.wustl.edu	37	2	97271056	97271056	+	Splice_Site	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:97271056C>A	ENST00000431828.1	-	15	2010		c.e15+1		KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000599854.1_Splice_Site|KANSL3_ENST00000487070.1_Splice_Site			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGAAACTCACCTTCTGGAGC	0.502																																																0			2											67.0	68.0	68.0					2																	97271056		1966	4150	6116	96634783	SO:0001630	splice_region_variant	55683			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1933+1G>T	2.37:g.97271056C>A			96634783	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	-	e13+1	ENST00000431828.1	37	c.1672+1	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433810	0.83776	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8208	0.78644	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1310	96634783	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.610000	0.67668	2.813000	0.96785	0.561000	0.74099	.	-	-		0.502	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1310	protein_coding	OTTHUMT00000339040.2	C	NM_017991	Intron	96634783	-1	no_errors	NM_017991	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	103984798	103984798	+	Nonsense_Mutation	SNP	C	C	T	rs202064459		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr12:103984798C>T	ENST00000388887.2	+	2	409	c.205C>T	c.(205-207)Cga>Tga	p.R69*	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTAGGGGTTCGAGATTGCAG	0.458																																																0			12											123.0	119.0	120.0					12																	103984798		2203	4300	6503	102508928	SO:0001587	stop_gained	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.205C>T	12.37:g.103984798C>T	ENSP00000373539:p.Arg69*		102508928		Nonsense_Mutation	SNP	HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_alliinase,superfamily_SSF57196,HMMPfam_EGF,superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1,HMMPfam_Laminin_EGF,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMPfam_EGF_2,HMMSmart_LINK,HMMPfam_Xlink,superfamily_C-type_lectin_fold,PatternScan_LINK_1	p.R69*	ENST00000388887.2	37	c.205	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042159	0.93685	.	.	ENSG00000136011	ENST00000388887	.	.	.	6.02	4.18	0.49190	.	0.210963	0.30109	N	0.010386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	12.5369	0.56145	0.4382:0.5617:0.0:0.0	.	.	.	.	X	69	.	ENSP00000373539:R69X	R	+	1	2	STAB2	102508928	0.651000	0.27340	0.267000	0.24556	0.012000	0.07955	1.054000	0.30455	0.858000	0.35431	-0.182000	0.12963	CGA	-	NULL		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	C			102508928	+1	no_errors	NM_017564	genbank	human	reviewed	54_36p	nonsense	SNP	0.193	T
ZC3H6	376940	genome.wustl.edu	37	2	113069414	113069414	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:113069414G>T	ENST00000409871.1	+	5	1048	c.647G>T	c.(646-648)gGt>gTt	p.G216V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G216V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	216							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTTAATGTTGGTCGTGGACGT	0.338																																																0			2											67.0	65.0	66.0					2																	113069414		1821	4070	5891	112785885	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.647G>T	2.37:g.113069414G>T	ENSP00000386764:p.Gly216Val		112785885	A9JR71|Q6ZW96	Missense_Mutation	SNP	superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes	p.G216V	ENST00000409871.1	37	c.647	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462182	0.43736	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.20200	2.09;2.09	5.11	4.23	0.50019	.	0.292400	0.36444	N	0.002596	T	0.20333	0.0489	L	0.39245	1.2	0.80722	D	1	B	0.24368	0.102	B	0.23419	0.046	T	0.03651	-1.1016	10	0.66056	D	0.02	-4.7242	14.6596	0.68861	0.0:0.1562:0.8438:0.0	.	216	P61129	ZC3H6_HUMAN	V	216;216;193	ENSP00000386764:G216V;ENSP00000340298:G216V	ENSP00000340298:G216V	G	+	2	0	ZC3H6	112785885	1.000000	0.71417	0.888000	0.34837	0.816000	0.46133	2.638000	0.46562	1.260000	0.44134	0.561000	0.74099	GGT	-	NULL		0.338	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	protein_coding	OTTHUMT00000330551.1	G	NM_198581		112785885	+1	no_errors	NM_198581	genbank	human	validated	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	8	120492553	120492553	+	IGR	SNP	A	A	T	rs192493235		TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr8:120492553A>T								RP11-775B15.2 (17963 upstream) : ENPP2 (76772 downstream)																							GATTTGATGAAGGCCATGCCG	0.443													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18768	0.0		0.0	False		,,,				2504	0.0															0			8																																								120561734	SO:0001628	intergenic_variant	392264																															8.37:g.120492553A>T			120561734		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.443					LOC392264			A			120561734	-1	pseudogene	XR_016686	genbank	human	model	54_36p	rna	SNP	1.000	T
C10orf120	399814	genome.wustl.edu	37	10	124457545	124457545	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr10:124457545T>A	ENST00000329446.4	-	3	743	c.712A>T	c.(712-714)Aga>Tga	p.R238*		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	238										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ATTTCTCGTCTTTTTGTGTTT	0.358																																																0			10											100.0	91.0	94.0					10																	124457545		2203	4300	6503	124447535	SO:0001587	stop_gained	399814				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.712A>T	10.37:g.124457545T>A	ENSP00000331012:p.Arg238*		124447535	B2RU17	Nonsense_Mutation	SNP	NULL	p.R238*	ENST00000329446.4	37	c.712	CCDS31302.1	10	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129516	0.77549	.	.	ENSG00000183559	ENST00000329446	.	.	.	4.39	3.25	0.37280	.	0.757532	0.12129	N	0.496944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4676	6.7136	0.23290	0.0:0.1075:0.0:0.8925	.	.	.	.	X	238	.	ENSP00000331012:R238X	R	-	1	2	C10orf120	124447535	0.002000	0.14202	0.001000	0.08648	0.404000	0.30871	1.096000	0.30976	0.822000	0.34565	-0.323000	0.08544	AGA	-	NULL		0.358	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	protein_coding	OTTHUMT00000050803.1	T	NM_001010912		124447535	-1	no_errors	NM_001010912	genbank	human	predicted	54_36p	nonsense	SNP	0.001	A
MARCH3	115123	genome.wustl.edu	37	5	126213925	126213925	+	Silent	SNP	C	C	G			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr5:126213925C>G	ENST00000308660.5	-	4	1069	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	185					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TGAGTGCAATCAGTCCGACGG	0.572																																																0			5											78.0	70.0	73.0					5																	126213925		2203	4300	6503	126241824	SO:0001819	synonymous_variant	115123			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.555G>C	5.37:g.126213925C>G			126241824	A8K264|B9EJE7	Silent	SNP	HMMSmart_RINGv,HMMPfam_zf-C3HC4	p.L185	ENST00000308660.5	37	c.555	CCDS4141.1	5																																																																																			-	NULL		0.572	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH3	protein_coding	OTTHUMT00000250955.2	C	NM_178450		126241824	-1	no_errors	NM_178450	genbank	human	validated	54_36p	silent	SNP	1.000	G
TNPO3	23534	genome.wustl.edu	37	7	128640522	128640522	+	Silent	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr7:128640522C>T	ENST00000265388.5	-	7	1115	c.972G>A	c.(970-972)ctG>ctA	p.L324L	TNPO3_ENST00000471234.1_Silent_p.L324L|TNPO3_ENST00000393245.1_Silent_p.L324L|TNPO3_ENST00000471166.1_Silent_p.L324L|TNPO3_ENST00000482320.1_Silent_p.L258L			Q9Y5L0	TNPO3_HUMAN	transportin 3	324					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCAGCAGCTCCAGAGTTCGAA	0.408																																					Pancreas(147;583 2585 39696 52331)											0			7											83.0	89.0	87.0					7																	128640522		2203	4300	6503	128427758	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.972G>A	7.37:g.128640522C>T			128427758	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	superfamily_ARM repeat,HMMPfam_Xpo1	p.L324	ENST00000265388.5	37	c.972	CCDS5809.1	7																																																																																			-	superfamily_ARM repeat		0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	C	NM_012470		128427758	-1	no_errors	NM_012470	genbank	human	validated	54_36p	silent	SNP	1.000	T
EPHB1	2047	genome.wustl.edu	37	3	134670330	134670330	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:134670330G>A	ENST00000398015.3	+	3	611	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	81	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACCGGCGGGGGGCCCATCG	0.537																																																0			3											29.0	32.0	31.0					3																	134670330		2050	4211	6261	136153020	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.241G>A	3.37:g.134670330G>A	ENSP00000381097:p.Gly81Arg		136153020	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.G81R	ENST00000398015.3	37	c.241	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567573	0.86439	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.55	5.55	0.83447	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.062033	0.64402	D	0.000005	T	0.34774	0.0909	M	0.70842	2.15	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.939	T	0.01432	-1.1356	10	0.48119	T	0.1	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	81;81	B5A969;P54762	.;EPHB1_HUMAN	R	59;81;59;59	ENSP00000417435:G59R;ENSP00000381097:G81R;ENSP00000417216:G59R;ENSP00000418352:G59R	ENSP00000381097:G81R	G	+	1	0	EPHB1	136153020	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.713000	0.68415	2.603000	0.88011	0.650000	0.86243	GGG	-	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	G	NM_004441		136153020	+1	no_errors	NM_004441	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GATAD2B	57459	genome.wustl.edu	37	1	153775025	153775025	+	IGR	SNP	G	G	C	rs144250855	byFrequency	TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:153775025G>C	ENST00000368655.4	-	0	7478					NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B						ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGTGCCTCGGACTGCCTCG	0.627													G|||	23	0.00459265	0.0008	0.0058	5008	,	,		20721	0.0		0.0089	False		,,,				2504	0.0092															0			1																																								152041649	SO:0001628	intergenic_variant	343052			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162		1.37:g.153775025G>C			152041649	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	RNA	SNP	-	NULL	ENST00000368655.4	37	NULL	CCDS1054.1	1																																																																																			-	-		0.627	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC343052	protein_coding	OTTHUMT00000090305.1	G	NM_020699		152041649	+1	no_errors	XR_017021	genbank	human	model	54_36p	rna	SNP	0.003	C
P2RY1	5028	genome.wustl.edu	37	3	152553925	152553925	+	Silent	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:152553925C>A	ENST00000305097.3	+	1	1190	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	118					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAGACTGGATCTTCGGGGATG	0.488																																																0			3											79.0	77.0	78.0					3																	152553925		2203	4300	6503	154036615	SO:0001819	synonymous_variant	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.354C>A	3.37:g.152553925C>A			154036615		Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I118	ENST00000305097.3	37	c.354	CCDS3169.1	3																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.488	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	protein_coding	OTTHUMT00000356943.1	C	NM_002563		154036615	+1	no_errors	NM_002563	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
GPD2	2820	genome.wustl.edu	37	2	157407246	157407246	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:157407246C>A	ENST00000310454.6	+	8	1331	c.959C>A	c.(958-960)cCt>cAt	p.P320H	GPD2_ENST00000438166.2_Missense_Mutation_p.P320H|GPD2_ENST00000409674.1_Missense_Mutation_p.P320H|GPD2_ENST00000540309.1_Missense_Mutation_p.P320H|GPD2_ENST00000409125.4_Missense_Mutation_p.P93H	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	320					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ATTGTGATGCCTGGTTATTAC	0.453																																																0			2											81.0	75.0	77.0					2																	157407246		2203	4300	6503	157115492	SO:0001583	missense	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.959C>A	2.37:g.157407246C>A	ENSP00000308610:p.Pro320His		157115492	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,PatternScan_FAD_G3PDH_1,superfamily_FAD-linked reductases C-terminal domain,PatternScan_FAD_G3PDH_2,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.P320H	ENST00000310454.6	37	c.959	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963071	0.92791	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.78	5.78	0.91487	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95315	0.8415	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	320	P43304	GPDM_HUMAN	H	320;93;320;320;320	ENSP00000308610:P320H;ENSP00000386484:P93H;ENSP00000409708:P320H;ENSP00000440892:P320H;ENSP00000386425:P320H	ENSP00000308610:P320H	P	+	2	0	GPD2	157115492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CCT	-	superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain		0.453	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	C			157115492	+1	no_errors	NM_000408	genbank	human	validated	54_36p	missense	SNP	1.000	A
CCNL1	57018	genome.wustl.edu	37	3	156866153	156866153	+	Silent	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:156866153C>T	ENST00000295926.3	-	11	1576	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	486					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCCTGTGTTTCTTGGCTGCAT	0.473																																																0			3											255.0	226.0	236.0					3																	156866153		2203	4300	6503	158348847	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1458G>A	3.37:g.156866153C>T			158348847	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	HMMPfam_Cyclin_N,superfamily_Cyclin-like,HMMSmart_SM00385	p.K486	ENST00000295926.3	37	c.1458	CCDS3178.1	3																																																																																			-	NULL		0.473	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	protein_coding	OTTHUMT00000351859.1	C	NM_020307		158348847	-1	no_errors	NM_020307	genbank	human	validated	54_36p	silent	SNP	1.000	T
ATP1A4	480	genome.wustl.edu	37	1	160143370	160143370	+	Splice_Site	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:160143370G>A	ENST00000368081.4	+	13	2325		c.e13-1		ATP1A4_ENST00000418334.1_Splice_Site	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCAACCCAGGTGATCATGG	0.507																																																0			1											149.0	130.0	137.0					1																	160143370		2203	4300	6503	158409994	SO:0001630	splice_region_variant	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1855-1G>A	1.37:g.160143370G>A			158409994	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Splice_Site	SNP	-	e13-1	ENST00000368081.4	37	c.1855-1	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912536	0.72983	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5236	0.67870	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A4	158409994	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.623000	0.98386	2.355000	0.79922	0.655000	0.94253	.	-	-		0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	protein_coding	OTTHUMT00000077415.1	G	NM_144699	Intron	158409994	+1	no_errors	NM_144699	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
H3F3AP4	440926	genome.wustl.edu	37	2	175584783	175584783	+	RNA	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:175584783C>T	ENST00000442996.1	+	0	217																											TGTGGCGCTCCGTGAAATTAG	0.507											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			2																																								175293029			0																															2.37:g.175584783C>T		1924	175293029		Missense_Mutation	SNP	superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2	p.R50C	ENST00000442996.1	37	c.148		2																																																																																			-	superfamily_Histone-fold,HMMSmart_SM00428		0.507	AC018890.6-002	KNOWN	basic	antisense	ENSG00000196285	antisense	OTTHUMT00000334128.1	C			175293029	+1	no_errors	ENST00000375183	ensembl	human	known	54_36p	missense	SNP	0.954	T
TTN	7273	genome.wustl.edu	37	2	179598572	179598572	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:179598572C>T	ENST00000591111.1	-	51	14817	c.14593G>A	c.(14593-14595)Gga>Aga	p.G4865R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G5182R|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G3938R			Q8WZ42	TITIN_HUMAN	titin	12247	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGGTTTGTCCTCCTAGTGCA	0.413																																																0			2											102.0	97.0	99.0					2																	179598572		1930	4137	6067	179306817	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.14593G>A	2.37:g.179598572C>T	ENSP00000465570:p.Gly4865Arg		179306817	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	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.G3938R	ENST00000591111.1	37	c.11812		2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726877	0.48833	.	.	ENSG00000155657	ENST00000342992	T	0.81330	-1.48	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	D	0.93674	0.7979	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94708	0.7889	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	4865	Q8WZ42	TITIN_HUMAN	R	3938	ENSP00000343764:G3938R	ENSP00000343764:G3938R	G	-	1	0	TTN	179306817	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GGA	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179306817	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	T
ATP13A5	344905	genome.wustl.edu	37	3	193052838	193052838	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr3:193052838T>A	ENST00000342358.4	-	10	1111	c.994A>T	c.(994-996)Atg>Ttg	p.M332L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	332						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCAAGGCATAGTGTTCTCC	0.448																																																0			3											193.0	181.0	185.0					3																	193052838		2203	4300	6503	194535532	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.994A>T	3.37:g.193052838T>A	ENSP00000341942:p.Met332Leu		194535532	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	superfamily_SSF81665,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,superfamily_SSF56784	p.M332L	ENST00000342358.4	37	c.994	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	T	0.879	-0.729225	0.03135	.	.	ENSG00000187527	ENST00000342358	D	0.82526	-1.62	6.11	1.11	0.20524	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.099970	0.06664	N	0.765079	T	0.68988	0.3061	N	0.13098	0.295	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49409	-0.8943	10	0.16896	T	0.51	-0.011	9.8472	0.41034	0.0:0.3459:0.0:0.6541	.	332	Q4VNC0	AT135_HUMAN	L	332	ENSP00000341942:M332L	ENSP00000341942:M332L	M	-	1	0	ATP13A5	194535532	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	-0.326000	0.07965	-0.032000	0.13758	-0.274000	0.10170	ATG	-	superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	T	NM_198505		194535532	-1	no_errors	NM_198505	genbank	human	provisional	54_36p	missense	SNP	0.011	A
BZW1	9689	genome.wustl.edu	37	2	201680198	201680198	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:201680198G>A	ENST00000409600.1	+	3	654	c.199G>A	c.(199-201)Gca>Aca	p.A67T	BZW1_ENST00000452790.2_Missense_Mutation_p.A99T|BZW1_ENST00000409226.1_Missense_Mutation_p.A71T	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CCGTCGATATGCAGAAACACT	0.393																																																0			2											74.0	72.0	73.0					2																	201680198		1932	4146	6078	201388443	SO:0001583	missense	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.199G>A	2.37:g.201680198G>A	ENSP00000386474:p.Ala67Thr		201388443	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_W2	p.A67T	ENST00000409600.1	37	c.199	CCDS56156.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.707200|4.707200	0.89018|0.89018	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000450637;ENST00000452206;ENST00000410110;ENST00000409600;ENST00000409226;ENST00000452790;ENST00000447069;ENST00000419090|ENST00000431249	T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82600|0.82600	0.5072|0.5072	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	P;D;P|.	0.54964|.	0.859;0.969;0.859|.	B;P;B|.	0.49752|.	0.424;0.621;0.424|.	T|T	0.83156|0.83156	-0.0101|-0.0101	10|6	0.72032|0.59425	D|D	0.01|0.04	-12.889|-12.889	20.2406|20.2406	0.98372|0.98372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71;99;67|.	B4DWF7;B4DLZ8;Q7L1Q6|.	.;.;BZW1_HUMAN|.	T|I	67;67;67;67;71;99;71;67|12	ENSP00000412072:A67T;ENSP00000390766:A67T;ENSP00000387086:A67T;ENSP00000386474:A67T;ENSP00000386837:A71T;ENSP00000394316:A99T;ENSP00000393587:A71T;ENSP00000407268:A67T|.	ENSP00000386837:A71T|ENSP00000391867:M12I	A|M	+|+	1|3	0|0	BZW1|BZW1	201388443|201388443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.715000|9.715000	0.98748|0.98748	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|ATG	-	NULL		0.393	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	protein_coding	OTTHUMT00000335975.1	G	NM_014670		201388443	+1	no_errors	NM_014670	genbank	human	validated	54_36p	missense	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210557915	210557915	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr2:210557915G>T	ENST00000360351.4	+	7	1527	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	MAP2_ENST00000447185.1_Missense_Mutation_p.A337S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	341					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCGCCCTTTGCCCCTGCCTT	0.443																																					Pancreas(27;423 979 28787 29963)											0			2											61.0	66.0	64.0					2																	210557915		2203	4300	6503	210266160	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1021G>T	2.37:g.210557915G>T	ENSP00000353508:p.Ala341Ser		210266160	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.A341S	ENST00000360351.4	37	c.1021	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648790	0.03506	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.28895	3.14;1.59;3.14	5.53	1.63	0.23807	.	0.558743	0.17414	N	0.175083	T	0.26557	0.0649	M	0.62723	1.935	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.28004	-1.0057	10	0.62326	D	0.03	-1.1834	4.3449	0.11127	0.1347:0.1024:0.5379:0.225	.	337;341	P11137-3;P11137	.;MAP2_HUMAN	S	341;423;337	ENSP00000353508:A341S;ENSP00000409969:A423S;ENSP00000392164:A337S	ENSP00000353508:A341S	A	+	1	0	MAP2	210266160	0.000000	0.05858	0.813000	0.32504	0.036000	0.12997	-0.351000	0.07711	0.087000	0.17167	-0.961000	0.02630	GCC	-	NULL		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210266160	+1	no_errors	NM_002374	genbank	human	reviewed	54_36p	missense	SNP	0.078	T
ESRRG	2104	genome.wustl.edu	37	1	216850555	216850555	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:216850555G>A	ENST00000408911.3	-	2	488	c.335C>T	c.(334-336)cCc>cTc	p.P112L	ESRRG_ENST00000359162.2_Missense_Mutation_p.P89L|ESRRG_ENST00000366940.2_Missense_Mutation_p.P89L|ESRRG_ENST00000487276.1_Missense_Mutation_p.P89L|ESRRG_ENST00000366938.2_Missense_Mutation_p.P89L|ESRRG_ENST00000493748.1_Missense_Mutation_p.P89L|ESRRG_ENST00000463665.1_Missense_Mutation_p.P89L|ESRRG_ENST00000361525.3_Missense_Mutation_p.P89L|ESRRG_ENST00000391890.3_Missense_Mutation_p.P89L|ESRRG_ENST00000493603.1_Missense_Mutation_p.P89L|ESRRG_ENST00000360012.3_Missense_Mutation_p.P89L|ESRRG_ENST00000366937.1_Missense_Mutation_p.P117L|ESRRG_ENST00000361395.2_Missense_Mutation_p.P89L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	112					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTGGTCTGGGGATCTTCAAC	0.512																																																0			1											230.0	206.0	214.0					1																	216850555		2203	4300	6503	214917178	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.335C>T	1.37:g.216850555G>A	ENSP00000386171:p.Pro112Leu		214917178	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep	p.P112L	ENST00000408911.3	37	c.335	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819709	0.71028	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95069	-3.21;-3.21;-3.21;-3.24;-3.21;-3.21;-3.21;-3.21;-3.21;-3.24;-3.6;-3.21;-3.21;-3.02;0.92	6.16	6.16	0.99307	.	0.161589	0.64402	D	0.000019	D	0.90896	0.7139	N	0.14661	0.345	0.58432	D	0.999999	B;B;B	0.23185	0.002;0.081;0.048	B;B;B	0.30316	0.007;0.114;0.036	D	0.85609	0.1257	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	89;117;112	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	L	89;89;117;112;89;89;89;89;89;89;89;89;89;89;89;89	ENSP00000355225:P89L;ENSP00000355907:P89L;ENSP00000355904:P117L;ENSP00000386171:P112L;ENSP00000352077:P89L;ENSP00000354584:P89L;ENSP00000355905:P89L;ENSP00000353108:P89L;ENSP00000419594:P89L;ENSP00000375761:P89L;ENSP00000418629:P89L;ENSP00000419155:P89L;ENSP00000417374:P89L;ENSP00000419514:P89L;ENSP00000417900:P89L	ENSP00000346386:P89L	P	-	2	0	ESRRG	214917178	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.750000	0.98875	2.937000	0.99478	0.650000	0.86243	CCC	-	NULL		0.512	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	protein_coding	OTTHUMT00000089882.2	G	NM_206595		214917178	-1	no_errors	NM_001438	genbank	human	validated	54_36p	missense	SNP	1.000	A
LIN9	286826	genome.wustl.edu	37	1	226474093	226474093	+	Silent	SNP	T	T	A			TCGA-61-1906-01A-01W-0639-09	TCGA-61-1906-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e3d5139f-2e19-4fdc-841b-3f17026612d3	47f0b411-30a1-4a8b-a1d4-946e5e68728c	g.chr1:226474093T>A	ENST00000328205.5	-	6	1058	c.513A>T	c.(511-513)acA>acT	p.T171T	LIN9_ENST00000366801.1_Silent_p.T120T|LIN9_ENST00000481685.1_Silent_p.T136T	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	155	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTAACTTTCTTGTTTTCAAAT	0.303																																					Ovarian(197;1696 2974 11248 14117)											0			1											63.0	71.0	68.0					1																	226474093		2201	4299	6500	224540716	SO:0001819	synonymous_variant	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.513A>T	1.37:g.226474093T>A			224540716	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Silent	SNP	HMMPfam_DIRP	p.T171	ENST00000328205.5	37	c.513	CCDS1553.1	1																																																																																			-	HMMPfam_DIRP		0.303	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	protein_coding	OTTHUMT00000091523.2	T	NM_173083		224540716	-1	no_errors	NM_173083	genbank	human	provisional	54_36p	silent	SNP	0.989	A
