#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
ABHD17A	81926	genome.wustl.edu	37	19	1881453	1881453	+	Missense_Mutation	SNP	A	A	C	rs201595201	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:1881453A>C	ENST00000292577.7	-	2	546	c.113T>G	c.(112-114)gTg>gGg	p.V38G	ABHD17A_ENST00000590661.1_Missense_Mutation_p.V38G|ABHD17A_ENST00000250974.9_Missense_Mutation_p.V38G	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	38						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCTCAGGCACCAGGGAGTA	0.746																																																0			19											12.0	17.0	15.0					19																	1881453		2042	4122	6164	1832453	SO:0001583	missense	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.113T>G	19.37:g.1881453A>C	ENSP00000292577:p.Val38Gly		1832453	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2	p.V38G	ENST00000292577.7	37	c.113	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	a	15.36	2.809992	0.50421	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.33216	1.42;1.44	3.69	3.69	0.42338	.	0.475045	0.22565	N	0.058416	T	0.34571	0.0902	L	0.57536	1.79	0.80722	D	1	B;P;B;B	0.36412	0.286;0.552;0.07;0.214	B;B;B;B	0.40782	0.091;0.34;0.078;0.162	T	0.32719	-0.9896	10	0.72032	D	0.01	-26.1987	11.9855	0.53145	1.0:0.0:0.0:0.0	.	38;38;38;38	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	G	38	ENSP00000250974:V38G;ENSP00000292577:V38G	ENSP00000250974:V38G	V	-	2	0	FAM108A1	1832453	0.998000	0.40836	0.999000	0.59377	0.586000	0.36452	8.265000	0.89869	1.684000	0.51022	0.459000	0.35465	GTG	-	PatternScan_TONB_DEPENDENT_REC_1,superfamily_alpha/beta-Hydrolases		0.746	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM108A1	protein_coding	OTTHUMT00000415556.2	A	NM_031213		1832453	-1	no_errors	NM_031213	genbank	human	validated	54_36p	missense	SNP	0.998	C
SRRM2	23524	genome.wustl.edu	37	16	2815985	2815985	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:2815985G>A	ENST00000301740.8	+	11	6005	c.5456G>A	c.(5455-5457)gGt>gAt	p.G1819D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1819	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGAGGCTCTGGTTATCACTCA	0.632																																																0			16											38.0	45.0	43.0					16																	2815985		2198	4300	6498	2755986	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5456G>A	16.37:g.2815985G>A	ENSP00000301740:p.Gly1819Asp		2755986	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	HMMPfam_cwf21	p.G1819D	ENST00000301740.8	37	c.5456	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615886	0.28801	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.34472	1.36	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	T	0.40670	0.1126	N	0.08118	0	0.38972	D	0.958778	D	0.89917	1.0	D	0.87578	0.998	T	0.53322	-0.8455	10	0.72032	D	0.01	-13.1113	14.803	0.69929	0.0:0.0:1.0:0.0	.	1819	Q9UQ35	SRRM2_HUMAN	D	1819;1819;1071	ENSP00000301740:G1819D	ENSP00000301740:G1819D	G	+	2	0	SRRM2	2755986	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.387000	0.66243	2.562000	0.86427	0.650000	0.86243	GGT	-	NULL		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G			2755986	+1	no_errors	NM_016333	genbank	human	validated	54_36p	missense	SNP	1.000	A
FUT3	2525	genome.wustl.edu	37	19	5843995	5843995	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:5843995G>A	ENST00000303225.6	-	3	1490	c.856C>T	c.(856-858)Cca>Tca	p.P286S	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.P286S|FUT3_ENST00000458379.2_Missense_Mutation_p.P286S|FUT3_ENST00000589620.1_Missense_Mutation_p.P286S	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	286					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCGTCGGGTGGCAGGAACCTC	0.657																																					Esophageal Squamous(82;745 1728 24593 44831)											0			19											13.0	15.0	14.0					19																	5843995		2187	4245	6432	5794995	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.856C>T	19.37:g.5843995G>A	ENSP00000305603:p.Pro286Ser		5794995	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	HMMPfam_Glyco_transf_10	p.P286S	ENST00000303225.6	37	c.856	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804778	0.31961	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.64260	-0.09;-0.09	2.29	2.29	0.28610	.	0.000000	0.64402	D	0.000019	D	0.84633	0.5515	H	0.98238	4.18	0.34317	D	0.686106	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.90436	0.4428	10	0.87932	D	0	.	10.7145	0.46005	0.0:0.0:1.0:0.0	.	286;286;286;286	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	S	286	ENSP00000305603:P286S;ENSP00000416443:P286S	ENSP00000305603:P286S	P	-	1	0	FUT3	5794995	1.000000	0.71417	0.344000	0.25628	0.126000	0.20510	5.801000	0.69115	1.221000	0.43506	0.194000	0.17425	CCA	-	HMMPfam_Glyco_transf_10		0.657	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	protein_coding	OTTHUMT00000452204.1	G	NM_000149		5794995	-1	no_errors	NM_000149	genbank	human	reviewed	54_36p	missense	SNP	0.668	A
C12orf57	113246	genome.wustl.edu	37	12	7054969	7054969	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:7054969G>A	ENST00000229281.5	+	3	364	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	C12orf57_ENST00000542222.1_3'UTR|U47924.31_ENST00000607421.1_RNA|PTPN6_ENST00000447931.2_5'Flank|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank|C12orf57_ENST00000540506.2_Missense_Mutation_p.E54K|C12orf57_ENST00000537087.1_Missense_Mutation_p.E60K	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	89						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						CAAGTCCTACGAAGCCCAGGA	0.602																																																0			12											91.0	71.0	78.0					12																	7054969		2203	4300	6503	6925230	SO:0001583	missense	113246			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.265G>A	12.37:g.7054969G>A	ENSP00000229281:p.Glu89Lys		6925230	B2R4Q6	Missense_Mutation	SNP	NULL	p.E89K	ENST00000229281.5	37	c.265	CCDS8571.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.020117	0.97211	.	.	ENSG00000111678	ENST00000545581;ENST00000537087;ENST00000229281	T;D;T	0.81739	-1.29;-1.53;-1.29	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.61132	0.884	D	0.88589	0.3142	10	0.72032	D	0.01	-7.3248	17.1818	0.86857	0.0:0.0:1.0:0.0	.	89	Q99622	C10_HUMAN	K	89;60;89	ENSP00000440602:E89K;ENSP00000440937:E60K;ENSP00000229281:E89K	ENSP00000229281:E89K	E	+	1	0	C12orf57	6925230	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.605000	0.98321	2.567000	0.86603	0.462000	0.41574	GAA	-	NULL		0.602	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf57	protein_coding	OTTHUMT00000401959.1	G	NM_138425		6925230	+1	no_errors	NM_138425	genbank	human	provisional	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7579313	7579313	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:7579313G>A	ENST00000269305.4	-	4	563	c.374C>T	c.(373-375)aCg>aTg	p.T125M	TP53_ENST00000445888.2_Splice_Site_p.T125M|TP53_ENST00000455263.2_Splice_Site_p.T125M|TP53_ENST00000359597.4_Splice_Site_p.T125M|TP53_ENST00000413465.2_Splice_Site_p.T125M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125M	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	GCAACTGACCGTGCAAGTCAC	0.542		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"""	42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(1)	large_intestine(8)|upper_aerodigestive_tract(7)|lung(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|urinary_tract(3)|breast(2)|stomach(1)|liver(1)|pancreas(1)|prostate(1)	17											66.0	62.0	63.0					17																	7579313		2203	4300	6503	7520038	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1C>T	17.37:g.7579313G>A			7520038	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.T125M	ENST00000269305.4	37	c.374	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430623	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.997;1.0	D;D;D;P;D;D;D	0.97110	1.0;0.956;0.986;0.868;0.985;0.981;1.0	D	0.96893	0.9654	10	0.87932	D	0	-16.188	15.6419	0.77012	0.0:0.0:1.0:0.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125M;ENSP00000352610:T125M;ENSP00000269305:T125M;ENSP00000398846:T125M;ENSP00000391127:T125M;ENSP00000391478:T125M;ENSP00000424104:T125M;ENSP00000426252:T125M	ENSP00000269305:T125M	T	-	2	0	TP53	7520038	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.798000	0.85924	2.630000	0.89119	0.655000	0.94253	ACG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	Missense_Mutation	7520038	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MYH8	4626	genome.wustl.edu	37	17	10304450	10304450	+	Missense_Mutation	SNP	C	C	T	rs140112749		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:10304450C>T	ENST00000403437.2	-	25	3261	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1056					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1056Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCAGTTTCCGCTTTGCTCT	0.368									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							1	Substitution - Missense(1)	skin(1)	17						C	GLN/ARG	0,4406		0,0,2203	131.0	117.0	122.0		3167	5.5	1.0	17	dbSNP_134	122	1,8597	1.2+/-3.3	0,1,4298	no	missense	MYH8	NM_002472.2	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1056/1938	10304450	1,13003	2203	4299	6502	10245175	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3167G>A	17.37:g.10304450C>T	ENSP00000384330:p.Arg1056Gln		10245175	Q14910	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.R1056Q	ENST00000403437.2	37	c.3167	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977251	0.92982	0.0	1.16E-4	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.95205	-3.64	5.48	5.48	0.80851	.	0.000000	0.46442	U	0.000290	D	0.97885	0.9305	H	0.96080	3.765	0.54753	D	0.999982	D	0.69078	0.997	P	0.56788	0.806	D	0.98693	1.0697	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1056	P13535	MYH8_HUMAN	Q	1056	ENSP00000384330:R1056Q	ENSP00000252173:R1056Q	R	-	2	0	MYH8	10245175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.447000	0.80620	2.861000	0.98227	0.650000	0.86243	CGG	-	NULL		0.368	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10245175	-1	no_errors	NM_002472	genbank	human	validated	54_36p	missense	SNP	1.000	T
ELOVL2	54898	genome.wustl.edu	37	6	11010983	11010983	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:11010983C>T	ENST00000354666.3	-	2	146	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	21					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ACTGACCTCGCGGTCCAAACA	0.333																																																0			6											91.0	86.0	88.0					6																	11010983		2203	4300	6503	11118969	SO:0001819	synonymous_variant	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.63G>A	6.37:g.11010983C>T			11118969	Q6P9E1|Q86W94	Silent	SNP	HMMPfam_ELO,PatternScan_ELO	p.P21	ENST00000354666.3	37	c.63	CCDS4518.1	6																																																																																			-	NULL		0.333	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	protein_coding	OTTHUMT00000039849.1	C			11118969	-1	no_errors	NM_017770	genbank	human	validated	54_36p	silent	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12666922	12666922	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:12666922T>A	ENST00000343344.4	+	13	2778	c.2778T>A	c.(2776-2778)aaT>aaA	p.N926K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.N974K			Q8IZQ8	MYCD_HUMAN	myocardin	926					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGATCTCAATTTGAATTCTT	0.517																																																0			17											51.0	47.0	49.0					17																	12666922		2203	4300	6503	12607647	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2778T>A	17.37:g.12666922T>A	ENSP00000341835:p.Asn926Lys		12607647	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513	p.N926K	ENST00000343344.4	37	c.2778	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339010	0.60963	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.45668	0.89;0.89	6.08	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.987	T	0.50625	-0.8806	10	0.52906	T	0.07	-33.6918	8.8228	0.35036	0.0:0.2889:0.0:0.7111	.	650;974;926	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	650;974;926;636	ENSP00000341835:N926K;ENSP00000400148:N636K	ENSP00000341835:N926K	N	+	3	2	MYOCD	12607647	0.998000	0.40836	0.983000	0.44433	0.956000	0.61745	0.489000	0.22387	0.195000	0.20347	0.533000	0.62120	AAT	-	NULL		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	T	NM_153604		12607647	+1	no_errors	NM_153604	genbank	human	provisional	54_36p	missense	SNP	0.993	A
RFX1	5989	genome.wustl.edu	37	19	14077444	14077444	+	Splice_Site	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:14077444C>A	ENST00000254325.4	-	13	2086		c.e13+1			NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)						immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGCCACCCTACCTCACAGTGT	0.672																																																0			19											76.0	66.0	69.0					19																	14077444		2203	4300	6503	13938444	SO:0001630	splice_region_variant	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1851+1G>T	19.37:g.14077444C>A			13938444		Splice_Site	SNP	-	e12+1	ENST00000254325.4	37	c.1851+1	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120138	0.56613	.	.	ENSG00000132005	ENST00000254325	.	.	.	4.66	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1728	0.42920	0.0:0.9024:0.0:0.0976	.	.	.	.	.	-1	.	.	.	-	.	.	RFX1	13938444	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.232000	0.78116	1.187000	0.43000	0.561000	0.74099	.	-	-		0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	protein_coding	OTTHUMT00000458510.1	C	NM_002918	Intron	13938444	-1	no_errors	NM_002918	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15647732	15647732	+	Missense_Mutation	SNP	G	G	A	rs150148399	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr10:15647732G>A	ENST00000378076.3	-	19	2314	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	654					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTCTAGCCGACAGCTTCAA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		21803	0.001		0.0	False		,,,				2504	0.001															0			10						G	LEU/SER	0,4406		0,0,2203	103.0	91.0	95.0		1961	3.6	0.9	10	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	654/1064	15647732	1,13005	2203	4300	6503	15687738	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1961C>T	10.37:g.15647732G>A	ENSP00000367316:p.Ser654Leu		15687738	B0YJ31|Q5VX94	Missense_Mutation	SNP	superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.S654L	ENST00000378076.3	37	c.1961	CCDS31155.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.1	4.102635	0.76983	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.52754	0.65	5.51	3.63	0.41609	Integrin alpha-2 (1);	0.109041	0.64402	D	0.000004	T	0.56202	0.1969	M	0.80746	2.51	0.50313	D	0.999867	P;P	0.47034	0.865;0.889	B;P	0.47786	0.422;0.557	T	0.59915	-0.7364	10	0.59425	D	0.04	.	11.0103	0.47659	0.0697:0.1299:0.8004:0.0	.	639;654	F5H818;P53708	.;ITA8_HUMAN	L	654;639	ENSP00000367316:S654L	ENSP00000367316:S654L	S	-	2	0	ITGA8	15687738	1.000000	0.71417	0.893000	0.35052	0.923000	0.55619	6.672000	0.74477	0.682000	0.31407	-0.136000	0.14681	TCG	-	HMMPfam_Integrin_alpha2,superfamily_SSF69179		0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	protein_coding	OTTHUMT00000046987.1	G	NM_003638		15687738	-1	no_errors	NM_003638	genbank	human	provisional	54_36p	missense	SNP	0.993	A
CYP4F24P	388514	genome.wustl.edu	37	19	15882966	15882966	+	lincRNA	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:15882966T>A	ENST00000595525.1	+	0	1122																											CTGCCACTTGTCCTGGCCAGA	0.582																																																0			19																																								15743966			388514																															19.37:g.15882966T>A			15743966		RNA	SNP	-	NULL	ENST00000595525.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	2.780	-0.253809	0.05829	.	.	ENSG00000225607	ENST00000412610	.	.	.	1.99	0.908	0.19326	.	.	.	.	.	T	0.31263	0.0791	.	.	.	.	.	.	B	0.09022	0.002	B	0.14023	0.01	T	0.26395	-1.0104	6	0.39692	T	0.17	.	5.5392	0.17028	0.0:0.0:0.6611:0.3389	.	64	B4DNA9	.	V	64	.	ENSP00000389636:D64V	D	-	2	0	AC011537.1	15743966	0.997000	0.39634	0.996000	0.52242	0.266000	0.26442	1.190000	0.32126	0.365000	0.24400	-0.505000	0.04504	GAC	-	-		0.582	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	LOC388514	lincRNA	OTTHUMT00000472008.1	T			15743966	-1	no_errors	XR_017598	genbank	human	model	54_36p	rna	SNP	1.000	A
ABCC6	368	genome.wustl.edu	37	16	16267249	16267249	+	Silent	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:16267249T>G	ENST00000205557.7	-	21	2708	c.2679A>C	c.(2677-2679)tcA>tcC	p.S893S		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	893					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCTCAGGGACTGACTTGATGG	0.532																																																0			16											129.0	114.0	119.0					16																	16267249		2197	4300	6497	16174750	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2679A>C	16.37:g.16267249T>G			16174750	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.S893	ENST00000205557.7	37	c.2679	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012540	0.19277	.	.	ENSG00000091262	ENST00000456970	D	0.90563	-2.69	4.54	0.812	0.18744	.	.	.	.	.	D	0.88130	0.6354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.79936	-0.1593	6	0.87932	D	0	.	5.4139	0.16363	0.0:0.1125:0.4651:0.4224	.	.	.	.	P	835	ENSP00000405002:Q835P	ENSP00000405002:Q835P	Q	-	2	0	ABCC6	16174750	0.000000	0.05858	0.010000	0.14722	0.038000	0.13279	-0.289000	0.08365	0.135000	0.18707	-0.504000	0.04507	CAG	-	NULL		0.532	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	T			16174750	-1	no_errors	NM_001171	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
MST1L	11223	genome.wustl.edu	37	1	17087279	17087279	+	RNA	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:17087279C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GAGGTCACAGCGCCCAGAATG	0.597																																																0			1																																								16959866			11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17087279C>T			16959866	B7WPB1|Q13209	Missense_Mutation	SNP	HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,HMMSmart_SM00130,HMMPfam_Kringle,superfamily_Kringle-like,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin	p.R102H	ENST00000455405.2	37	c.305		1	.	.	.	.	.	.	.	.	.	.	.	2.524	-0.310065	0.05458	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	1.645670	0.03668	N	0.243517	T	0.22166	0.0534	.	.	.	.	.	.	B	0.16166	0.016	B	0.08055	0.003	T	0.17531	-1.0366	6	0.42905	T	0.14	.	1.4156	0.02301	0.3419:0.3271:0.0:0.331	.	102	Q2TV78-2	.	H	72;102;102	.	ENSP00000439273:R102H	R	-	2	0	MST1P9	16959866	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.296000	0.19083	-0.000000	0.14550	0.000000	0.15137	CGC	-	HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,HMMSmart_SM00473,HMMSmart_SM00130		0.597	MST1L-002	KNOWN	basic	processed_transcript	MSTP9	pseudogene	OTTHUMT00000400328.1	C	NM_001271733		16959866	-1	no_errors	ENST00000334998	ensembl	human	known	54_36p	missense	SNP	1.000	T
CILP2	148113	genome.wustl.edu	37	19	19651023	19651023	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:19651023G>C	ENST00000291495.5	+	3	259	c.174G>C	c.(172-174)gaG>gaC	p.E58D	CILP2_ENST00000586018.1_Missense_Mutation_p.E64D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	58						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGCCAGCGAGTGGACGTCCT	0.697																																																0			19											20.0	22.0	21.0					19																	19651023		2189	4295	6484	19512023	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.174G>C	19.37:g.19651023G>C	ENSP00000291495:p.Glu58Asp		19512023	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_CarboxypepD_reg,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2	p.E58D	ENST00000291495.5	37	c.174	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864106	0.71949	.	.	ENSG00000160161	ENST00000291495	T	0.17854	2.25	3.74	1.57	0.23409	.	0.053822	0.64402	D	0.000001	T	0.31040	0.0784	M	0.62154	1.92	0.37080	D	0.898922	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	T	0.12344	-1.0551	10	0.42905	T	0.14	-10.8479	5.6828	0.17786	0.3552:0.0:0.6448:0.0	.	58;58	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	58	ENSP00000291495:E58D	ENSP00000291495:E58D	E	+	3	2	CILP2	19512023	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.423000	0.44705	0.374000	0.24650	0.306000	0.20318	GAG	-	NULL		0.697	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	G	NM_153221		19512023	+1	no_errors	NM_153221	genbank	human	validated	54_36p	missense	SNP	1.000	C
PPM1F	9647	genome.wustl.edu	37	22	22277487	22277487	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr22:22277487G>T	ENST00000263212.5	-	8	1448	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	PPM1F_ENST00000538191.1_Missense_Mutation_p.T344N|PPM1F_ENST00000407142.1_Missense_Mutation_p.T280N	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	448					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGGAGCCTGGGTCTCAGGTTC	0.637																																																0			22											67.0	76.0	73.0					22																	22277487		2203	4300	6503	20607487	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1343C>A	22.37:g.22277487G>T	ENSP00000263212:p.Thr448Asn		20607487	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C	p.T448N	ENST00000263212.5	37	c.1343	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	G	9.397	1.077035	0.20227	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.17054	2.55;2.3;2.54	4.71	-0.853	0.10709	.	1.986030	0.02054	N	0.050243	T	0.10937	0.0267	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26643	-1.0097	10	0.35671	T	0.21	-18.1755	2.1795	0.03871	0.1294:0.135:0.4245:0.3111	.	344;448	B7Z2C3;P49593	.;PPM1F_HUMAN	N	448;280;280;344	ENSP00000263212:T448N;ENSP00000384930:T280N;ENSP00000439915:T344N	ENSP00000263212:T448N	T	-	2	0	PPM1F	20607487	0.782000	0.28689	0.018000	0.16275	0.030000	0.12068	0.575000	0.23729	0.303000	0.22785	0.655000	0.94253	ACC	-	NULL		0.637	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	protein_coding	OTTHUMT00000320267.2	G	NM_014634		20607487	-1	no_errors	NM_014634	genbank	human	reviewed	54_36p	missense	SNP	0.039	T
BCR	613	genome.wustl.edu	37	22	23596071	23596071	+	Nonsense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr22:23596071C>G	ENST00000305877.8	+	2	2116	c.1365C>G	c.(1363-1365)taC>taG	p.Y455*	BCR_ENST00000359540.3_Nonsense_Mutation_p.Y455*	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	455					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGCTGCCCTACATTGATGACT	0.642			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0			22											55.0	45.0	48.0					22																	23596071		2203	4299	6502	21926071	SO:0001587	stop_gained	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1365C>G	22.37:g.23596071C>G	ENSP00000303507:p.Tyr455*		21926071	P78501|Q12842|Q4LE80|Q6NZI3	Nonsense_Mutation	SNP	superfamily_Bcr-Abl oncoprotein oligomerization domain,HMMPfam_Bcr-Abl_Oligo,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.Y455*	ENST00000305877.8	37	c.1365	CCDS13806.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.274275|11.274275	0.99539|0.99539	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000334149|ENST00000305877;ENST00000359540	.|.	.|.	.|.	5.37|5.37	4.36|4.36	0.52297|0.52297	.|.	.|0.069145	.|0.64402	.|D	.|0.000012	T|.	0.30823|.	0.0777|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15178|.	-1.0446|.	5|.	0.30078|0.02654	T|T	0.28|1	.|.	9.3368|9.3368	0.38056|0.38056	0.0:0.8352:0.0:0.1648|0.0:0.8352:0.0:0.1648	.|.	.|.	.|.	.|.	R|X	120|455	.|.	ENSP00000335450:T120R|ENSP00000303507:Y455X	T|Y	+|+	2|3	0|2	BCR|BCR	21926071|21926071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.655000|1.655000	0.37345|0.37345	1.414000|1.414000	0.47017|0.47017	0.591000|0.591000	0.81541|0.81541	ACA|TAC	-	NULL		0.642	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	protein_coding	OTTHUMT00000075819.1	C	NM_004327		21926071	+1	no_errors	NM_004327	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	G
RBBP6	5930	genome.wustl.edu	37	16	24581309	24581309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:24581309C>T	ENST00000319715.4	+	17	3730	c.3298C>T	c.(3298-3300)Caa>Taa	p.Q1100*	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.Q1066*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1100	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGAACACCAAGAAACAAA	0.388																																																0			16											45.0	42.0	43.0					16																	24581309		2197	4298	6495	24488810	SO:0001587	stop_gained	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3298C>T	16.37:g.24581309C>T	ENSP00000317872:p.Gln1100*		24488810	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184	p.Q1100*	ENST00000319715.4	37	c.3298	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	43	10.379446	0.99394	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	.	.	.	5.66	5.66	0.87406	.	0.105878	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-14.3855	19.7362	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	1100;1066	.	ENSP00000317872:Q1100X	Q	+	1	0	RBBP6	24488810	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	4.673000	0.61604	2.661000	0.90470	0.655000	0.94253	CAA	-	NULL		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	C	NM_006910		24488810	+1	no_errors	NM_006910	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
SSH2	85464	genome.wustl.edu	37	17	27963139	27963139	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:27963139C>A	ENST00000269033.3	-	14	2179	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M703I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	676					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTCCTCCATCCTTGAAT	0.483																																																0			17											136.0	134.0	135.0					17																	27963139		2203	4300	6503	24987265	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2028G>T	17.37:g.27963139C>A	ENSP00000269033:p.Met676Ile		24987265	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1	p.M676I	ENST00000269033.3	37	c.2028	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778171	0.31502	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35048	1.33;1.33	6.17	1.78	0.24846	.	0.891618	0.10161	N	0.708375	T	0.20981	0.0505	L	0.31294	0.92	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16217	-1.0410	10	0.14656	T	0.56	-5.5851	3.5176	0.07730	0.1085:0.5309:0.106:0.2546	.	703;676	F5H527;Q76I76	.;SSH2_HUMAN	I	676;703	ENSP00000269033:M676I;ENSP00000444743:M703I	ENSP00000269033:M676I	M	-	3	0	SSH2	24987265	0.772000	0.28567	1.000000	0.80357	0.982000	0.71751	0.015000	0.13355	0.922000	0.37019	0.655000	0.94253	ATG	-	NULL		0.483	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	protein_coding	OTTHUMT00000256116.1	C	NM_033389		24987265	-1	no_errors	NM_033389	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
IL21R	50615	genome.wustl.edu	37	16	27457369	27457369	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:27457369T>G	ENST00000337929.3	+	8	1300	c.827T>G	c.(826-828)tTc>tGc	p.F276C	IL21R_ENST00000395754.4_Missense_Mutation_p.F276C|IL21R_ENST00000395755.1_Missense_Mutation_p.F276C|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.F276C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	276					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTGAGCGGTTCTTCATGCCC	0.637			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											62.0	56.0	58.0					16																	27457369		2197	4300	6497	27364870	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.827T>G	16.37:g.27457369T>G	ENSP00000338010:p.Phe276Cys		27364870	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1	p.F276C	ENST00000337929.3	37	c.827	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032377	0.35893	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.45668	0.89;0.89;0.89	4.38	4.38	0.52667	.	0.061042	0.64402	D	0.000002	T	0.60830	0.2299	M	0.76328	2.33	0.43421	D	0.995577	D	0.89917	1.0	D	0.91635	0.999	T	0.61647	-0.7020	10	0.44086	T	0.13	-24.5038	10.0061	0.41957	0.0:0.0:0.0:1.0	.	276	Q9HBE5	IL21R_HUMAN	C	276	ENSP00000338010:F276C;ENSP00000379104:F276C;ENSP00000379103:F276C	ENSP00000338010:F276C	F	+	2	0	IL21R	27364870	1.000000	0.71417	0.851000	0.33527	0.015000	0.08874	4.301000	0.59086	1.618000	0.50286	0.459000	0.35465	TTC	-	NULL		0.637	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	protein_coding	OTTHUMT00000254578.2	T	NM_181078		27364870	+1	no_errors	NM_021798	genbank	human	reviewed	54_36p	missense	SNP	0.965	G
GOLGA8UP	100507067	genome.wustl.edu	37	15	31086742	31086742	+	IGR	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr15:31086742G>A								ARHGAP11B (21546 upstream) : RN7SL82P (5609 downstream)																							CTCTCTGCATGCGCCTCAGAG	0.562																																																0			15																																								28874034	SO:0001628	intergenic_variant	390561																															15.37:g.31086742G>A			28874034		Missense_Mutation	SNP	NULL	p.C443Y		37	c.1328		15																																																																																			-	NULL	0	0.562					LOC390561			G			28874034	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	XM_001726958	genbank	human	model	54_36p	missense	SNP	1.000	A
HLA-E	3133	genome.wustl.edu	37	6	30457652	30457652	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:30457652T>A	ENST00000376630.4	+	2	279	c.214T>A	c.(214-216)Tgg>Agg	p.W72R		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	72	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGGGCGCCGTGGATGGAGCA	0.662																																																0			6											66.0	76.0	72.0					6																	30457652		1510	2708	4218	30565631	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.214T>A	6.37:g.30457652T>A	ENSP00000365817:p.Trp72Arg		30565631	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_C1-set,superfamily_SSF48726,HMMSmart_IGc1,PatternScan_IG_MHC	p.W72R	ENST00000376630.4	37	c.214	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926486	0.52759	.	.	ENSG00000204592	ENST00000376630	T	0.02446	4.29	1.67	1.67	0.24075	.	0.000000	0.30347	U	0.009840	T	0.14013	0.0339	H	0.99545	4.62	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.11717	-1.0576	10	0.87932	D	0	.	5.384	0.16208	0.0:0.0:0.0:1.0	.	113;72	E7ENN9;Q6DU44	.;.	R	72	ENSP00000365817:W72R	ENSP00000365817:W72R	W	+	1	0	HLA-E	30565631	0.994000	0.37717	0.190000	0.23270	0.120000	0.20174	3.532000	0.53553	1.016000	0.39470	0.379000	0.24179	TGG	-	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog		0.662	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	protein_coding	OTTHUMT00000076282.2	T	NM_005516		30565631	+1	no_errors	NM_005516	genbank	human	reviewed	54_36p	missense	SNP	0.253	A
ORAI3	93129	genome.wustl.edu	37	16	30965038	30965038	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:30965038C>A	ENST00000318663.4	+	2	985	c.761C>A	c.(760-762)cCc>cAc	p.P254H	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	254					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						ATCATGGTACCCGTGGGGCTC	0.622											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			16											54.0	61.0	58.0					16																	30965038		2197	4300	6497	30872539	SO:0001583	missense	93129			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.761C>A	16.37:g.30965038C>A	ENSP00000322249:p.Pro254His	821	30872539	Q96BI8	Missense_Mutation	SNP	HMMPfam_DUF1650	p.P254H	ENST00000318663.4	37	c.761	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744694	0.89663	.	.	ENSG00000175938	ENST00000318663	T	0.47528	0.84	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000030	T	0.69663	0.3136	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71849	-0.4468	10	0.87932	D	0	-9.0843	18.5037	0.90890	0.0:1.0:0.0:0.0	.	254	Q9BRQ5	ORAI3_HUMAN	H	254	ENSP00000322249:P254H	ENSP00000322249:P254H	P	+	2	0	ORAI3	30872539	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.576000	0.67437	2.673000	0.90976	0.645000	0.84053	CCC	-	HMMPfam_DUF1650		0.622	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	protein_coding	OTTHUMT00000255545.20	C	NM_152288		30872539	+1	no_errors	NM_152288	genbank	human	validated	54_36p	missense	SNP	1.000	A
PHF1	5252	genome.wustl.edu	37	6	33382137	33382137	+	Silent	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:33382137G>A	ENST00000374516.3	+	9	1141	c.870G>A	c.(868-870)ctG>ctA	p.L290L	PHF1_ENST00000374512.3_Silent_p.L290L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	290					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTTTGCTCCTGGGGGAGGTAA	0.493											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			6											90.0	93.0	92.0					6																	33382137		2203	4300	6503	33490115	SO:0001819	synonymous_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.870G>A	6.37:g.33382137G>A		839	33490115	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.L290	ENST00000374516.3	37	c.870	CCDS4777.1	6																																																																																			-	NULL		0.493	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	protein_coding	OTTHUMT00000076175.3	G			33490115	+1	no_errors	NM_024165	genbank	human	reviewed	54_36p	silent	SNP	0.963	A
PDHX	8050	genome.wustl.edu	37	11	34978943	34978943	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:34978943A>G	ENST00000227868.4	+	4	439	c.355A>G	c.(355-357)Agt>Ggt	p.S119G	PDHX_ENST00000448838.3_Missense_Mutation_p.S104G|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	119	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGAAGAAGGAAGTAAAAATAT	0.368																																																0			11											52.0	56.0	54.0					11																	34978943		2202	4298	6500	34935519	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.355A>G	11.37:g.34978943A>G	ENSP00000227868:p.Ser119Gly		34935519	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_LIPOYL,superfamily_E3_bd,HMMPfam_E3_binding,HMMPfam_2-oxoacid_dh,superfamily_SSF52777	p.S119G	ENST00000227868.4	37	c.355	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046174	0.75846	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.83	-1.83	0.07833	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.456897	0.26166	N	0.025942	T	0.58047	0.2095	L	0.48218	1.51	0.80722	D	1	P;P	0.46706	0.783;0.883	P;P	0.59643	0.582;0.861	T	0.56703	-0.7935	10	0.72032	D	0.01	-5.2322	5.1162	0.14834	0.4747:0.0:0.3407:0.1846	.	104;119	E9PB14;O00330	.;ODPX_HUMAN	G	59;104;119;92	ENSP00000431281:S59G;ENSP00000389404:S104G;ENSP00000227868:S119G;ENSP00000432277:S92G	ENSP00000227868:S119G	S	+	1	0	PDHX	34935519	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	1.949000	0.40313	-0.197000	0.10350	0.533000	0.62120	AGT	-	superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl		0.368	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	protein_coding	OTTHUMT00000390017.1	A	NM_003477		34935519	+1	no_errors	NM_003477	genbank	human	validated	54_36p	missense	SNP	0.965	G
SRC	6714	genome.wustl.edu	37	20	36022358	36022358	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:36022358C>T	ENST00000373578.2	+	6	760	c.411C>T	c.(409-411)agC>agT	p.S137S	SRC_ENST00000358208.4_Silent_p.S137S|SRC_ENST00000373567.2_Silent_p.S137S|SRC_ENST00000373558.2_Silent_p.S143S|SRC_ENST00000445403.1_Silent_p.S137S|SRC_ENST00000360723.4_Silent_p.S143S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	137	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	ACATCCCCAGCAACTACGTGG	0.632																																																0			20											64.0	52.0	56.0					20																	36022358		2203	4300	6503	35455772	SO:0001819	synonymous_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.411C>T	20.37:g.36022358C>T			35455772	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.S137	ENST00000373578.2	37	c.411	CCDS13294.1	20																																																																																			-	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326		0.632	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	protein_coding	OTTHUMT00000268142.1	C	NM_005417		35455772	+1	no_errors	NM_005417	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
MLH1	4292	genome.wustl.edu	37	3	37061951	37061951	+	Silent	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:37061951C>G	ENST00000231790.2	+	11	1251	c.1035C>G	c.(1033-1035)acC>acG	p.T345T	MLH1_ENST00000435176.1_Silent_p.T247T|MLH1_ENST00000458205.2_Silent_p.T104T|MLH1_ENST00000455445.2_Silent_p.T104T|MLH1_ENST00000539477.1_Silent_p.T104T|MLH1_ENST00000536378.1_Silent_p.T104T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	345					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGTACTTCACCCAGGTCAGGG	0.542		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	3											55.0	53.0	54.0					3																	37061951		2203	4300	6503	37036955	SO:0001819	synonymous_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1035C>G	3.37:g.37061951C>G			37036955	B4DI13|B4DQ11|E9PCU2	Silent	SNP	superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair	p.T345	ENST00000231790.2	37	c.1035	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287150	0.23478	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.23	2.38	0.29361	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18935	-1.0321	6	.	.	.	-22.3766	0.9761	0.01426	0.2561:0.3319:0.2368:0.1753	.	12	E9PE33	.	R	337	.	.	P	+	2	0	MLH1	37036955	0.933000	0.31639	1.000000	0.80357	0.992000	0.81027	-0.044000	0.12023	1.438000	0.47492	0.655000	0.94253	CCC	-	NULL		0.542	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	protein_coding	OTTHUMT00000253337.2	C	NM_000249		37036955	+1	no_errors	NM_000249	genbank	human	reviewed	54_36p	silent	SNP	0.997	G
THBS1	7057	genome.wustl.edu	37	15	39885816	39885816	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr15:39885816C>A	ENST00000260356.5	+	19	3379	c.3214C>A	c.(3214-3216)Cct>Act	p.P1072T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1072	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CACCACAGGGCCTGGCGAGCA	0.582																																																0			15											106.0	106.0	106.0					15																	39885816		2200	4297	6497	37673108	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3214C>A	15.37:g.39885816C>A	ENSP00000260356:p.Pro1072Thr		37673108	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,HMMPfam_TSP_C	p.P1072T	ENST00000260356.5	37	c.3214	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302432	0.60195	.	.	ENSG00000137801	ENST00000260356	D	0.97772	-4.53	5.77	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35772	N	0.002990	D	0.97829	0.9287	L	0.42744	1.35	0.58432	D	0.999999	B;D	0.89917	0.006;1.0	B;D	0.91635	0.045;0.999	D	0.97495	1.0056	10	0.31617	T	0.26	-10.3622	16.6959	0.85335	0.0:0.8703:0.1297:0.0	.	987;1072	B4E3J7;P07996	.;TSP1_HUMAN	T	1072	ENSP00000260356:P1072T	ENSP00000260356:P1072T	P	+	1	0	THBS1	37673108	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.814000	0.86154	1.382000	0.46385	0.655000	0.94253	CCT	-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C		0.582	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	protein_coding	OTTHUMT00000257831.2	C	NM_003246		37673108	+1	no_errors	NM_003246	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
PNN	5411	genome.wustl.edu	37	14	39650026	39650026	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr14:39650026G>C	ENST00000216832.4	+	9	1180	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	371	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aggaaactgaggtaagggaaa	0.433																																																0			14											114.0	93.0	100.0					14																	39650026		2203	4300	6503	38719777	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1113G>C	14.37:g.39650026G>C	ENSP00000216832:p.Glu371Asp		38719777	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	HMMPfam_Pinin_SDK_N,HMMPfam_Pinin_SDK_memA	p.E371D	ENST00000216832.4	37	c.1113	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584449	0.46110	.	.	ENSG00000100941	ENST00000216832	T	0.37584	1.19	5.9	5.0	0.66597	.	0.204839	0.50627	D	0.000108	T	0.39036	0.1063	M	0.75615	2.305	0.80722	D	1	B	0.20780	0.048	B	0.24541	0.054	T	0.20974	-1.0259	10	0.30078	T	0.28	-1.6063	11.4077	0.49908	0.14:0.0:0.86:0.0	.	371	Q9H307	PININ_HUMAN	D	371	ENSP00000216832:E371D	ENSP00000216832:E371D	E	+	3	2	PNN	38719777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.369000	0.52365	1.470000	0.48102	0.650000	0.86243	GAG	-	NULL		0.433	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	protein_coding	OTTHUMT00000276776.2	G	NM_002687		38719777	+1	no_errors	NM_002687	genbank	human	validated	54_36p	missense	SNP	0.987	C
LRRK2	120892	genome.wustl.edu	37	12	40645170	40645170	+	Missense_Mutation	SNP	C	C	G	rs144975499	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:40645170C>G	ENST00000298910.7	+	9	1153	c.1095C>G	c.(1093-1095)caC>caG	p.H365Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.H365Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	365					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAACAAGCACGTGCAGGTAG	0.363											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			12											72.0	77.0	75.0					12																	40645170		2203	4300	6503	38931437	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1095C>G	12.37:g.40645170C>G	ENSP00000298910:p.His365Gln	895	38931437	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2	p.H365Q	ENST00000298910.7	37	c.1095	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	2.384	-0.341472	0.05243	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.32988	1.43;1.43	5.51	-3.3	0.05003	Armadillo-like helical (1);Armadillo-type fold (1);	0.335440	0.31949	N	0.006818	T	0.18923	0.0454	L	0.36672	1.1	0.25144	N	0.990472	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.25106	T	0.35	.	10.9703	0.47436	0.0:0.4811:0.0:0.5189	.	365	Q5S007	LRRK2_HUMAN	Q	365	ENSP00000341930:H365Q;ENSP00000298910:H365Q	ENSP00000298910:H365Q	H	+	3	2	LRRK2	38931437	0.121000	0.22262	0.965000	0.40720	0.253000	0.25986	-0.981000	0.03766	-0.803000	0.04415	-1.105000	0.02106	CAC	-	superfamily_ARM-type_fold		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	C	XM_058513		38931437	+1	no_errors	NM_198578	genbank	human	reviewed	54_36p	missense	SNP	0.974	G
XIRP1	165904	genome.wustl.edu	37	3	39225777	39225777	+	Silent	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:39225777C>T	ENST00000340369.3	-	2	5388	c.5160G>A	c.(5158-5160)ggG>ggA	p.G1720G	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.G403G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1720	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCCTTCTTCCCAGTTTTGT	0.557																																																0			3											94.0	78.0	83.0					3																	39225777		2203	4300	6503	39200781	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5160G>A	3.37:g.39225777C>T			39200781	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	HMMPfam_Xin	p.G1720	ENST00000340369.3	37	c.5160	CCDS2683.1	3																																																																																			-	NULL		0.557	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39200781	-1	no_errors	NM_194293	genbank	human	provisional	54_36p	silent	SNP	0.000	T
ZNF33B	7582	genome.wustl.edu	37	10	43088068	43088068	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr10:43088068T>C	ENST00000359467.3	-	5	2444	c.2330A>G	c.(2329-2331)tAt>tGt	p.Y777C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AATTCATTCATAAGGTTTTTC	0.413																																					Melanoma(137;1247 1767 16772 25727 43810)											0			10											103.0	99.0	100.0					10																	43088068		2203	4300	6503	42408074	SO:0001583	missense	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2330A>G	10.37:g.43088068T>C	ENSP00000352444:p.Tyr777Cys		42408074	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Y777C	ENST00000359467.3	37	c.2330	CCDS7198.1	10	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160258	0.38119	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.19938	2.11	2.5	-3.01	0.05463	.	.	.	.	.	T	0.22437	0.0541	M	0.83012	2.62	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41034	-0.9531	9	0.87932	D	0	.	3.2401	0.06778	0.3565:0.3741:0.0:0.2693	.	777	Q06732	ZN33B_HUMAN	C	777;743	ENSP00000352444:Y777C	ENSP00000352444:Y777C	Y	-	2	0	ZNF33B	42408074	0.001000	0.12720	0.000000	0.03702	0.574000	0.36063	-0.273000	0.08548	-0.750000	0.04740	-0.970000	0.02610	TAT	-	superfamily_SSF57667		0.413	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF33B	protein_coding		T	NM_006955		42408074	-1	no_errors	NM_006955	genbank	human	provisional	54_36p	missense	SNP	0.010	C
ENOX1	55068	genome.wustl.edu	37	13	43872524	43872524	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr13:43872524C>A	ENST00000261488.6	-	12	1981	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H	ENOX1_ENST00000412891.1_Missense_Mutation_p.Q468H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	468					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ACTGCAGTTGCTGGTCCTTGG	0.448																																																0			13											171.0	143.0	152.0					13																	43872524		2203	4300	6503	42770524	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1404G>T	13.37:g.43872524C>A	ENSP00000261488:p.Gln468His		42770524	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.Q468H	ENST00000261488.6	37	c.1404	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189710	0.57909	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.48836	0.8;0.8	4.93	4.07	0.47477	.	0.278230	0.36234	N	0.002702	T	0.44891	0.1315	L	0.61218	1.895	0.80722	D	1	P	0.52316	0.952	B	0.41510	0.359	T	0.49969	-0.8882	10	0.62326	D	0.03	-25.2707	11.1826	0.48638	0.0:0.8479:0.0:0.1521	.	468	Q8TC92	ENOX1_HUMAN	H	468	ENSP00000261488:Q468H;ENSP00000415054:Q468H	ENSP00000261488:Q468H	Q	-	3	2	ENOX1	42770524	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.766000	0.38491	1.168000	0.42723	0.655000	0.94253	CAG	-	NULL		0.448	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	protein_coding	OTTHUMT00000044717.2	C	NM_017993		42770524	-1	no_errors	NM_017993	genbank	human	validated	54_36p	missense	SNP	1.000	A
PTK7	5754	genome.wustl.edu	37	6	43100368	43100368	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:43100368T>A	ENST00000230419.4	+	7	1392	c.1171T>A	c.(1171-1173)Tgc>Agc	p.C391S	PTK7_ENST00000471863.1_Missense_Mutation_p.C391S|PTK7_ENST00000349241.2_Missense_Mutation_p.C391S|PTK7_ENST00000352931.2_Missense_Mutation_p.C391S|PTK7_ENST00000481273.1_Missense_Mutation_p.C399S|PTK7_ENST00000345201.2_Missense_Mutation_p.C391S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	391	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGTCTACACCTGCCACGCGGC	0.607																																																0			6											30.0	22.0	25.0					6																	43100368		2203	4300	6503	43208346	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1171T>A	6.37:g.43100368T>A	ENSP00000230419:p.Cys391Ser		43208346	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR	p.C391S	ENST00000230419.4	37	c.1171	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595670	0.86953	.	.	ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946	D;D;D;D;D;D;D	0.89939	-2.53;-2.59;-1.98;-2.29;-2.29;-2.53;-2.59	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96288	0.8789	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;0.997;1.0	D	0.97631	1.0142	10	0.87932	D	0	.	13.3205	0.60430	0.0:0.0:0.0:1.0	.	399;67;391;391;391;391;391	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;.;PTK7_HUMAN;.	S	391;67;391;391;391;391;399;144	ENSP00000230419:C391S;ENSP00000419037:C391S;ENSP00000325462:C391S;ENSP00000326029:C391S;ENSP00000325992:C391S;ENSP00000418754:C399S;ENSP00000420165:C144S	ENSP00000230418:C391S	C	+	1	0	PTK7	43208346	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.251000	0.78297	1.896000	0.54893	0.379000	0.24179	TGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00408		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	protein_coding	OTTHUMT00000040580.2	T			43208346	+1	no_errors	NM_002821	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NETO2	81831	genome.wustl.edu	37	16	47117252	47117252	+	Silent	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:47117252T>C	ENST00000562435.1	-	9	1842	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	NETO2_ENST00000303155.5_Silent_p.K479K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	486					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CATGTCCCTGTTTGAAAGTGT	0.453										HNSCC(25;0.065)																																						0			16											180.0	172.0	175.0					16																	47117252		2203	4300	6503	45674753	SO:0001819	synonymous_variant	81831			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1458A>G	16.37:g.47117252T>C			45674753	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Silent	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1	p.K486	ENST00000562435.1	37	c.1458	CCDS10727.1	16																																																																																			-	NULL		0.453	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	protein_coding	OTTHUMT00000256766.2	T	NM_018092		45674753	-1	no_errors	NM_018092	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
IGFBP1	3484	genome.wustl.edu	37	7	45931586	45931586	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr7:45931586A>G	ENST00000275525.3	+	3	871	c.575A>G	c.(574-576)gAg>gGg	p.E192G	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Missense_Mutation_p.E192G	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	192	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						AAGGCACAGGAGACATCAGGA	0.443											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			7											78.0	77.0	77.0					7																	45931586		2203	4300	6503	45898111	SO:0001583	missense	3484				CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.575A>G	7.37:g.45931586A>G	ENSP00000275525:p.Glu192Gly	935	45898111	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	HMMSmart_SM00121,HMMPfam_IGFBP,PatternScan_IGFBP_N_1,superfamily_Growth factor receptor domain,superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211	p.E192G	ENST00000275525.3	37	c.575	CCDS5504.1	7	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655213	0.67472	.	.	ENSG00000146678	ENST00000275525;ENST00000457280	T;T	0.64618	-0.11;-0.11	4.81	3.63	0.41609	Thyroglobulin type-1 (4);	0.175955	0.51477	D	0.000084	T	0.63462	0.2513	L	0.38175	1.15	0.80722	D	1	P;P	0.37688	0.605;0.605	P;P	0.51297	0.464;0.665	T	0.63363	-0.6654	10	0.59425	D	0.04	-5.5468	10.0599	0.42268	0.8302:0.1698:0.0:0.0	.	192;192	P08833;C9JXF9	IBP1_HUMAN;.	G	192	ENSP00000275525:E192G;ENSP00000413511:E192G	ENSP00000275525:E192G	E	+	2	0	IGFBP1	45898111	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	6.092000	0.71414	0.753000	0.32945	0.533000	0.62120	GAG	-	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1		0.443	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFBP1	protein_coding	OTTHUMT00000251355.2	A	NM_000596		45898111	+1	no_errors	NM_000596	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RSAD1	55316	genome.wustl.edu	37	17	48562147	48562147	+	Silent	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:48562147T>A	ENST00000258955.2	+	9	1339	c.1254T>A	c.(1252-1254)tcT>tcA	p.S418S		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	418					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCTGGACTCTCTCTTGCTGA	0.552																																																0			17											78.0	71.0	74.0					17																	48562147		2203	4300	6503	45917146	SO:0001819	synonymous_variant	55316			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1254T>A	17.37:g.48562147T>A			45917146	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	superfamily_SSF102114,HMMSmart_Elp3,HMMPfam_Radical_SAM,HMMPfam_HemN_C	p.S418	ENST00000258955.2	37	c.1254	CCDS11569.1	17																																																																																			-	superfamily_SSF102114		0.552	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	T	NM_018346		45917146	+1	no_errors	NM_018346	genbank	human	provisional	54_36p	silent	SNP	0.939	A
PREX1	57580	genome.wustl.edu	37	20	47244476	47244476	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:47244476G>T	ENST00000371941.3	-	38	4814	c.4792C>A	c.(4792-4794)Cag>Aag	p.Q1598K	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1598					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGGCCGCCTGCTCCAGGGAC	0.687																																																0			20											41.0	31.0	35.0					20																	47244476		2203	4300	6503	46677883	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4792C>A	20.37:g.47244476G>T	ENSP00000361009:p.Gln1598Lys		46677883	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	"superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228"	p.Q1598K	ENST00000371941.3	37	c.4792	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	g	26.8	4.768968	0.90020	.	.	ENSG00000124126	ENST00000371941	T	0.73789	-0.78	4.31	4.31	0.51392	.	0.000000	0.52532	U	0.000077	D	0.85767	0.5773	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.996	D	0.88263	0.2924	10	0.87932	D	0	.	16.7877	0.85578	0.0:0.0:1.0:0.0	.	1598;895	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	K	1598	ENSP00000361009:Q1598K	ENSP00000361009:Q1598K	Q	-	1	0	PREX1	46677883	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.411000	0.97342	1.949000	0.56562	0.457000	0.33378	CAG	-	NULL		0.687	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	G	NM_020820		46677883	-1	no_errors	NM_020820	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GABRB1	2560	genome.wustl.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr4:47428009G>A	ENST00000295454.3	+	9	1691	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTAATGTCGTCTATTGGCT	0.418																																																0			4											96.0	92.0	93.0					4																	47428009		2202	4299	6501	47122766	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1399G>A	4.37:g.47428009G>A	ENSP00000295454:p.Val467Ile		47122766	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.V467I	ENST00000295454.3	37	c.1399	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261782	0.10239	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.83837	-1.77;-1.77	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.164709	0.39985	N	0.001201	T	0.70631	0.3246	N	0.11724	0.165	0.51012	D	0.999908	B;B	0.25719	0.005;0.132	B;B	0.18871	0.019;0.023	T	0.65356	-0.6188	10	0.21540	T	0.41	-19.0431	19.2334	0.93849	0.0:0.0:1.0:0.0	.	397;467	F5GXV5;P18505	.;GBRB1_HUMAN	I	467;397	ENSP00000295454:V467I;ENSP00000440330:V397I	ENSP00000295454:V467I	V	+	1	0	GABRB1	47122766	1.000000	0.71417	0.998000	0.56505	0.154000	0.21943	7.637000	0.83313	2.781000	0.95711	0.650000	0.86243	GTC	-	superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	protein_coding	OTTHUMT00000216896.1	G			47122766	+1	no_errors	NM_000812	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FBXW12	285231	genome.wustl.edu	37	3	48420930	48420930	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:48420930C>A	ENST00000296438.5	+	7	842	c.656C>A	c.(655-657)cCt>cAt	p.P219H	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000445170.1_Missense_Mutation_p.P200H|FBXW12_ENST00000436231.1_Missense_Mutation_p.P62H|FBXW12_ENST00000415155.1_Missense_Mutation_p.P149H	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	219										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTACACTGCCTGGGTTAAGA	0.413																																																0			3											313.0	281.0	292.0					3																	48420930		2203	4300	6503	48395934	SO:0001583	missense	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.656C>A	3.37:g.48420930C>A	ENSP00000296438:p.Pro219His		48395934	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_WD40_like	p.P219H	ENST00000296438.5	37	c.656	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705783	0.48412	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.63580	1.56;-0.05;1.56;3.41	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.211582	0.40908	N	0.001000	T	0.74535	0.3729	M	0.67397	2.05	0.18873	N	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.64210	-0.6461	10	0.72032	D	0.01	-8.418	11.1474	0.48438	0.0:1.0:0.0:0.0	.	118;200;149;219	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	H	118;219;62;200;149	ENSP00000296438:P219H;ENSP00000413866:P62H;ENSP00000406139:P200H;ENSP00000414683:P149H	ENSP00000296438:P219H	P	+	2	0	FBXW12	48395934	0.191000	0.23288	0.118000	0.21660	0.009000	0.06853	2.734000	0.47368	2.320000	0.78422	0.655000	0.94253	CCT	-	superfamily_WD40_like		0.413	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	protein_coding	OTTHUMT00000257505.1	C	NM_207102		48395934	+1	no_errors	NM_207102	genbank	human	provisional	54_36p	missense	SNP	0.023	A
MAPK6	5597	genome.wustl.edu	37	15	52356635	52356635	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr15:52356635T>A	ENST00000261845.5	+	6	2411	c.1604T>A	c.(1603-1605)aTt>aAt	p.I535N	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	535					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCAGGAACTATTCAGCTTAGT	0.388																																																0			15											25.0	27.0	27.0					15																	52356635		2188	4285	6473	50143927	SO:0001583	missense	5597			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1604T>A	15.37:g.52356635T>A	ENSP00000261845:p.Ile535Asn		50143927	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I535N	ENST00000261845.5	37	c.1604	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026406	0.54683	.	.	ENSG00000069956	ENST00000261845	T	0.52526	0.66	5.27	5.27	0.74061	.	0.044406	0.85682	D	0.000000	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	P	0.35844	0.524	B	0.38194	0.267	T	0.44345	-0.9334	10	0.87932	D	0	-11.6698	15.3381	0.74273	0.0:0.0:0.0:1.0	.	535	Q16659	MK06_HUMAN	N	535	ENSP00000261845:I535N	ENSP00000261845:I535N	I	+	2	0	MAPK6	50143927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.829000	0.86735	2.052000	0.61016	0.444000	0.29173	ATT	-	NULL		0.388	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	protein_coding	OTTHUMT00000254841.2	T	NM_002748		50143927	+1	no_errors	NM_002748	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM124A	220108	genome.wustl.edu	37	13	51825732	51825732	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr13:51825732C>G	ENST00000322475.8	+	3	364	c.229C>G	c.(229-231)Ccg>Gcg	p.P77A	FAM124A_ENST00000280057.6_Missense_Mutation_p.P113A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	77										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCCCGACCTCCCGCTGTTCCG	0.692																																																0			13											17.0	17.0	17.0					13																	51825732		2201	4292	6493	50723733	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.229C>G	13.37:g.51825732C>G	ENSP00000324625:p.Pro77Ala		50723733	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.P113A	ENST00000322475.8	37	c.337	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210361	0.39003	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.39997	1.05;1.05	5.79	4.95	0.65309	.	0.120297	0.56097	D	0.000023	T	0.28001	0.0690	N	0.22421	0.69	0.30757	N	0.744452	P;B;B	0.46142	0.873;0.205;0.167	B;B;B	0.36464	0.225;0.053;0.079	T	0.21177	-1.0253	10	0.42905	T	0.14	-27.601	13.8997	0.63794	0.0:0.9273:0.0:0.0727	.	77;113;77	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	A	77;113	ENSP00000324625:P77A;ENSP00000280057:P113A	ENSP00000280057:P113A	P	+	1	0	FAM124A	50723733	1.000000	0.71417	0.275000	0.24674	0.705000	0.40729	5.324000	0.65863	1.458000	0.47871	0.655000	0.94253	CCG	-	NULL		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	protein_coding	OTTHUMT00000045019.3	C	NM_145019		50723733	+1	no_errors	NM_145019	genbank	human	predicted	54_36p	missense	SNP	0.992	G
KRT85	3891	genome.wustl.edu	37	12	52754812	52754812	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:52754812C>G	ENST00000257901.3	-	9	1424	c.1349G>C	c.(1348-1350)gGt>gCt	p.G450A	KRT85_ENST00000544265.1_Missense_Mutation_p.G238A	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	450	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGACTCCACCACGGGAGCT	0.652																																																0			12											22.0	22.0	22.0					12																	52754812		2201	4300	6501	51041079	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1349G>C	12.37:g.52754812C>G	ENSP00000257901:p.Gly450Ala		51041079	Q9NSB1	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.G450A	ENST00000257901.3	37	c.1349	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605553	0.28623	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.83163	-1.69;-1.62	5.01	4.1	0.47936	.	0.094050	0.47093	D	0.000243	D	0.86310	0.5902	M	0.78456	2.415	0.09310	N	1	D	0.61080	0.989	P	0.51999	0.687	T	0.79610	-0.1732	10	0.54805	T	0.06	.	11.1875	0.48666	0.0:0.8149:0.1851:0.0	.	450	P78386	KRT85_HUMAN	A	450;238	ENSP00000257901:G450A;ENSP00000440240:G238A	ENSP00000257901:G450A	G	-	2	0	KRT85	51041079	0.757000	0.28394	0.018000	0.16275	0.161000	0.22273	3.857000	0.55972	1.300000	0.44818	0.655000	0.94253	GGT	-	NULL		0.652	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	protein_coding	OTTHUMT00000405184.1	C	NM_002283		51041079	-1	no_errors	NM_002283	genbank	human	reviewed	54_36p	missense	SNP	0.533	G
KRT76	51350	genome.wustl.edu	37	12	53170780	53170780	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:53170780C>A	ENST00000332411.2	-	1	349	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	99	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						atagctgcccccaaagccacc	0.627																																																0			12											215.0	243.0	234.0					12																	53170780		2203	4300	6503	51457047	SO:0001583	missense	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.296G>T	12.37:g.53170780C>A	ENSP00000330101:p.Gly99Val		51457047	B4DRR3|Q7Z795	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.G99V	ENST00000332411.2	37	c.296	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	c	12.56	1.975673	0.34848	.	.	ENSG00000185069	ENST00000332411	D	0.91295	-2.82	4.61	4.61	0.57282	.	0.000000	0.32175	N	0.006474	D	0.96219	0.8767	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.96309	0.9227	10	0.56958	D	0.05	.	18.7492	0.91807	0.0:1.0:0.0:0.0	.	99	Q01546	K22O_HUMAN	V	99	ENSP00000330101:G99V	ENSP00000330101:G99V	G	-	2	0	KRT76	51457047	0.297000	0.24408	0.992000	0.48379	0.269000	0.26545	2.872000	0.48467	2.844000	0.97970	0.650000	0.86243	GGG	-	NULL		0.627	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	protein_coding	OTTHUMT00000405928.1	C	NM_015848		51457047	-1	no_errors	NM_015848	genbank	human	validated	54_36p	missense	SNP	0.181	A
ST18	9705	genome.wustl.edu	37	8	53049163	53049163	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:53049163A>T	ENST00000276480.7	-	19	2970	c.2287T>A	c.(2287-2289)Tct>Act	p.S763T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	763					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCTCCTGAGAGTTGGCAGCC	0.488																																																0			8											65.0	55.0	59.0					8																	53049163		2203	4300	6503	53211716	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2287T>A	8.37:g.53049163A>T	ENSP00000276480:p.Ser763Thr		53211716	Q17RY1	Missense_Mutation	SNP	superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1	p.S763T	ENST00000276480.7	37	c.2287	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918311	0.73098	.	.	ENSG00000147488	ENST00000276480	T	0.53206	0.63	5.91	5.91	0.95273	.	0.049837	0.85682	D	0.000000	T	0.62913	0.2467	L	0.58354	1.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.61397	0.888	T	0.62969	-0.6741	10	0.48119	T	0.1	-15.0119	16.3483	0.83171	1.0:0.0:0.0:0.0	.	763	O60284	ST18_HUMAN	T	763	ENSP00000276480:S763T	ENSP00000276480:S763T	S	-	1	0	ST18	53211716	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.928000	0.56506	2.254000	0.74563	0.533000	0.62120	TCT	-	superfamily_SSF103637		0.488	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	A			53211716	-1	no_errors	NM_014682	genbank	human	validated	54_36p	missense	SNP	1.000	T
HRC	3270	genome.wustl.edu	37	19	49658196	49658196	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:49658196C>A	ENST00000252825.4	-	1	485	c.299G>T	c.(298-300)gGg>gTg	p.G100V	HRC_ENST00000595625.1_Missense_Mutation_p.G100V|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	100					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGTAGGTGCCCATATTCCTT	0.547																																					Melanoma(37;75 1097 24567 25669 30645)											0			19											165.0	137.0	147.0					19																	49658196		2203	4300	6503	54350008	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.299G>T	19.37:g.49658196C>A	ENSP00000252825:p.Gly100Val		54350008	Q504Y6	Missense_Mutation	SNP	HMMPfam_Hist_rich_Ca-bd	p.G100V	ENST00000252825.4	37	c.299	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	7.025	0.559379	0.13436	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06768	3.26	2.58	1.52	0.23074	.	.	.	.	.	T	0.09069	0.0224	L	0.48642	1.525	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.26395	-1.0104	9	0.44086	T	0.13	0.0028	10.5928	0.45318	0.0:0.8795:0.0:0.1205	.	100	P23327	SRCH_HUMAN	V	100;70	ENSP00000252825:G100V	ENSP00000252825:G100V	G	-	2	0	HRC	54350008	0.000000	0.05858	0.017000	0.16124	0.008000	0.06430	0.260000	0.18424	0.172000	0.19760	-1.598000	0.00824	GGG	-	NULL		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		54350008	-1	no_errors	NM_002152	genbank	human	reviewed	54_36p	missense	SNP	0.006	A
EMC10	284361	genome.wustl.edu	37	19	50982299	50982299	+	Missense_Mutation	SNP	C	C	A	rs554226030		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr19:50982299C>A	ENST00000334976.6	+	3	319	c.273C>A	c.(271-273)agC>agA	p.S91R	EMC10_ENST00000376918.3_Missense_Mutation_p.S91R|FAM71E1_ENST00000595790.1_5'Flank|FAM71E1_ENST00000600100.1_5'Flank|EMC10_ENST00000598585.1_Missense_Mutation_p.S91R|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	91						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											GGCAGCTCAGCGAGGAGGAGC	0.647																																																0			19											33.0	27.0	29.0					19																	50982299		2203	4300	6503	55674111	SO:0001583	missense	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.273C>A	19.37:g.50982299C>A	ENSP00000334037:p.Ser91Arg		55674111	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.S91R	ENST00000334976.6	37	c.273	CCDS12796.1	19	.	.	.	.	.	.	.	.	.	.	C	9.952	1.220540	0.22457	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	3.93	-7.87	0.01183	.	0.370128	0.26582	N	0.023580	T	0.51041	0.1651	L	0.43923	1.385	0.26740	N	0.970412	D;P;D	0.69078	0.997;0.761;0.997	D;B;D	0.66979	0.948;0.343;0.948	T	0.66878	-0.5812	9	0.66056	D	0.02	-34.0894	13.9768	0.64277	0.0982:0.6542:0.0:0.2477	.	91;91;91	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	R	91	.	ENSP00000334037:S91R	S	+	3	2	C19orf63	55674111	0.000000	0.05858	0.023000	0.16930	0.265000	0.26407	-2.735000	0.00802	-2.642000	0.00428	-0.424000	0.05967	AGC	-	NULL		0.647	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf63	protein_coding	OTTHUMT00000464760.2	C	NM_175063		55674111	+1	no_errors	NM_206538	genbank	human	validated	54_36p	missense	SNP	0.634	A
OR5B2	390190	genome.wustl.edu	37	11	58190471	58190471	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:58190471C>G	ENST00000302581.2	-	1	315	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGATGACCTTGTCTCCTC	0.493																																																0			11											142.0	121.0	128.0					11																	58190471		2201	4295	6496	57947047	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.264G>C	11.37:g.58190471C>G	ENSP00000303076:p.Lys88Asn		57947047	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.K88N	ENST00000302581.2	37	c.264	CCDS31550.1	11	.	.	.	.	.	.	.	.	.	.	C	2.172	-0.389629	0.04932	.	.	ENSG00000172365	ENST00000302581	T	0.38240	1.15	3.8	-0.388	0.12459	GPCR, rhodopsin-like superfamily (1);	0.424851	0.17055	U	0.188786	T	0.20292	0.0488	L	0.28556	0.865	0.09310	N	1	B	0.17852	0.024	B	0.21151	0.033	T	0.12604	-1.0541	10	0.33940	T	0.23	-2.8255	3.4616	0.07535	0.3006:0.414:0.0:0.2855	.	88	Q96R09	OR5B2_HUMAN	N	88	ENSP00000303076:K88N	ENSP00000303076:K88N	K	-	3	2	OR5B2	57947047	0.000000	0.05858	0.034000	0.17996	0.068000	0.16541	-7.742000	0.00030	0.059000	0.16252	0.645000	0.84053	AAG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.493	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	protein_coding	OTTHUMT00000394887.2	C	NM_001005566		57947047	-1	no_errors	NM_001005566	genbank	human	provisional	54_36p	missense	SNP	0.000	G
ZNF512B	57473	genome.wustl.edu	37	20	62630983	62630983	+	Intron	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr20:62630983C>A	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Silent_p.L298L|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GACTGCTCCTCAAGTCTGTTC	0.582																																																0			20											120.0	107.0	112.0					20																	62630983		2203	4300	6503	62101427	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31675G>T	20.37:g.62630983C>A			62101427	Q08AK9|Q9ULM4	Silent	SNP	HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1	p.L298	ENST00000450537.1	37	c.894	CCDS13548.1	20																																																																																			-	HMMSmart_HAT,superfamily_SSF48452		0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	C	NM_020713		62101427	+1	no_errors	NM_012469	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
AR	367	genome.wustl.edu	37	X	66765620	66765620	+	Missense_Mutation	SNP	C	C	T	rs370893700		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:66765620C>T	ENST00000374690.3	+	1	1156	c.632C>T	c.(631-633)gCg>gTg	p.A211V	AR_ENST00000504326.1_Missense_Mutation_p.A211V|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A211V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	209	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGCGGGAGAGCGAGGGAGGCC	0.577									Androgen Insensitivity Syndrome																																							0			X											31.0	31.0	31.0					X																	66765620		2203	4300	6503	66682345	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.632C>T	X.37:g.66765620C>T	ENSP00000363822:p.Ala211Val		66682345	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	HMMPfam_Androgen_recep,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep	p.A211V	ENST00000374690.3	37	c.632	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	7.591	0.670824	0.14776	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95588	-3.75;-3.75;-3.75	4.98	0.846	0.18955	.	0.734274	0.13032	N	0.419205	D	0.89746	0.6804	L	0.31664	0.95	0.09310	N	1	B;P;P	0.40909	0.238;0.647;0.732	B;B;B	0.37508	0.09;0.252;0.142	T	0.81627	-0.0847	10	0.54805	T	0.06	.	6.7427	0.23445	0.0:0.4978:0.0:0.5022	.	211;211;209	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	V	21;211;211;211;203	ENSP00000363822:A211V;ENSP00000421155:A211V;ENSP00000379359:A211V	ENSP00000363822:A211V	A	+	2	0	AR	66682345	0.002000	0.14202	0.044000	0.18714	0.516000	0.34256	-0.361000	0.07612	-0.175000	0.10725	-0.280000	0.10049	GCG	-	HMMPfam_Androgen_recep		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66682345	+1	no_errors	NM_000044	genbank	human	reviewed	54_36p	missense	SNP	0.661	T
TBC1D10C	374403	genome.wustl.edu	37	11	67174357	67174357	+	Missense_Mutation	SNP	C	C	G	rs142410416	byFrequency	TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:67174357C>G	ENST00000542590.1	+	7	722	c.708C>G	c.(706-708)caC>caG	p.H236Q	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.H236Q			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	236	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCTTCCGCACGTGCACAAGC	0.697																																																0			11											63.0	70.0	68.0					11																	67174357		2200	4294	6494	66930933	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.708C>G	11.37:g.67174357C>G	ENSP00000443654:p.His236Gln		66930933	G3V1D6	Missense_Mutation	SNP	superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC	p.H236Q	ENST00000542590.1	37	c.708	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333331	0.11013	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.03772	3.81;3.81	3.87	-7.75	0.01236	Rab-GAP/TBC domain (5);	0.174739	0.27735	N	0.018066	T	0.01287	0.0042	N	0.03983	-0.305	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.32613	-0.9900	10	0.19590	T	0.45	.	1.5337	0.02541	0.1764:0.1421:0.2463:0.4351	.	236	Q8IV04	TB10C_HUMAN	Q	236	ENSP00000310193:H236Q;ENSP00000443654:H236Q	ENSP00000310193:H236Q	H	+	3	2	TBC1D10C	66930933	0.000000	0.05858	0.037000	0.18230	0.731000	0.41821	-1.890000	0.01613	-2.113000	0.00833	0.455000	0.32223	CAC	-	HMMSmart_TBC,HMMPfam_TBC,superfamily_RabGAP_TBC		0.697	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	protein_coding	OTTHUMT00000395492.2	C	NM_198517		66930933	+1	no_errors	NM_198517	genbank	human	provisional	54_36p	missense	SNP	0.123	G
WDR78	79819	genome.wustl.edu	37	1	67337151	67337151	+	Nonsense_Mutation	SNP	A	A	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:67337151A>C	ENST00000371026.3	-	6	897	c.842T>G	c.(841-843)tTa>tGa	p.L281*	WDR78_ENST00000371022.3_Nonsense_Mutation_p.L281*|WDR78_ENST00000431318.1_Nonsense_Mutation_p.L27*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.L281*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	281					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTCATTGCCTAATCTGTTTCT	0.318																																																0			1											155.0	154.0	154.0					1																	67337151		2201	4297	6498	67109739	SO:0001587	stop_gained	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.842T>G	1.37:g.67337151A>C	ENSP00000360065:p.Leu281*		67109739	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.L281*	ENST00000371026.3	37	c.842	CCDS635.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.669828|2.669828	0.47677|0.47677	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000469450|ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022	.|.	.|.	.|.	5.86|5.86	2.39|2.39	0.29439|0.29439	.|.	.|1.752990	.|0.02689	.|N	.|0.110392	T|.	0.06050|.	0.0157|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15636|.	-1.0430|.	3|.	.|0.11485	.|T	.|0.65	-0.1881|-0.1881	7.116|7.116	0.25416|0.25416	0.5783:0.0:0.4217:0.0|0.5783:0.0:0.4217:0.0	.|.	.|.	.|.	.|.	M|X	14|281;27;47;281;281	.|.	.|ENSP00000360061:L281X	I|L	-|-	3|2	3|0	WDR78|WDR78	67109739|67109739	0.124000|0.124000	0.22315|0.22315	0.712000|0.712000	0.30502|0.30502	0.001000|0.001000	0.01503|0.01503	0.619000|0.619000	0.24388|0.24388	0.470000|0.470000	0.27294|0.27294	-0.263000|-0.263000	0.10527|0.10527	ATT|TTA	-	NULL		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	protein_coding	OTTHUMT00000025404.1	A	NM_024763		67109739	-1	no_errors	NM_024763	genbank	human	validated	54_36p	nonsense	SNP	0.472	C
HYDIN	54768	genome.wustl.edu	37	16	71196573	71196573	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:71196573C>T	ENST00000393567.2	-	6	727	c.577G>A	c.(577-579)Gct>Act	p.A193T	HYDIN_ENST00000448691.1_Missense_Mutation_p.A193T|HYDIN_ENST00000538248.1_Missense_Mutation_p.A220T|HYDIN_ENST00000541601.1_Missense_Mutation_p.A210T|HYDIN_ENST00000448089.2_Missense_Mutation_p.A193T|HYDIN_ENST00000321489.5_Missense_Mutation_p.A193T|HYDIN_ENST00000393550.2_Missense_Mutation_p.A193T|HYDIN_ENST00000288168.10_Missense_Mutation_p.A210T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	193					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCCCTCTAGCTTTGATGGGT	0.423																																																0			16											8.0	7.0	7.0					16																	71196573		2029	4112	6141	69754074	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.577G>A	16.37:g.71196573C>T	ENSP00000377197:p.Ala193Thr		69754074	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A193T	ENST00000393567.2	37	c.577	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686528	0.88639	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.29142	4.57;2.58;2.56;2.56;2.58;2.56;2.24;1.58	5.01	5.01	0.66863	.	0.000000	0.31031	U	0.008390	T	0.54791	0.1880	M	0.64170	1.965	0.50313	D	0.999867	P;P;P;P;D	0.76494	0.796;0.658;0.845;0.488;0.999	P;B;P;B;D	0.83275	0.469;0.322;0.58;0.265;0.996	T	0.56715	-0.7933	10	0.62326	D	0.03	.	18.2755	0.90081	0.0:1.0:0.0:0.0	.	220;210;210;193;193	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	193;193;193;193;193;220;210;210;193	ENSP00000377197:A193T;ENSP00000398544:A193T;ENSP00000394826:A193T;ENSP00000314736:A193T;ENSP00000444970:A220T;ENSP00000437341:A210T;ENSP00000288168:A210T;ENSP00000377181:A193T	ENSP00000288168:A210T	A	-	1	0	HYDIN	69754074	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.682000	0.74528	2.494000	0.84150	0.655000	0.94253	GCT	-	superfamily_PapD-like		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C			69754074	-1	no_errors	NM_032821	genbank	human	validated	54_36p	missense	SNP	1.000	T
ITGB4	3691	genome.wustl.edu	37	17	73733410	73733410	+	Silent	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:73733410G>A	ENST00000200181.3	+	17	2185	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.E666E|ITGB4_ENST00000450894.3_Silent_p.E666E|ITGB4_ENST00000579662.1_Silent_p.E666E|ITGB4_ENST00000339591.3_Silent_p.E666E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	666				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCGAGGAGGTGGTGGTGC	0.672																																																0			17											48.0	50.0	49.0					17																	73733410		2198	4293	6491	71245005	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1998G>A	17.37:g.73733410G>A			71245005	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,HMMPfam_EGF_2,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.E666	ENST00000200181.3	37	c.1998	CCDS11727.1	17																																																																																			-	superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail		0.672	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	G			71245005	+1	no_errors	NM_000213	genbank	human	reviewed	54_36p	silent	SNP	0.981	A
GLG1	2734	genome.wustl.edu	37	16	74640904	74640904	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr16:74640904A>C	ENST00000422840.2	-	1	88	c.89T>G	c.(88-90)cTc>cGc	p.L30R	GLG1_ENST00000447066.2_Missense_Mutation_p.L30R|GLG1_ENST00000205061.5_Missense_Mutation_p.L30R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	30					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGGCCGGGGAGTTTCTCGGC	0.706																																																0			16											5.0	7.0	6.0					16																	74640904		1817	3665	5482	73198405	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.89T>G	16.37:g.74640904A>C	ENSP00000405984:p.Leu30Arg		73198405	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	HMMPfam_Cys_rich_FGFR	p.L30R	ENST00000422840.2	37	c.89	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	A	9.895	1.205274	0.22205	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	4.77	-2.19	0.07015	.	1.295500	0.05931	N	0.635179	T	0.16428	0.0395	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16867	-1.0388	9	0.15952	T	0.53	.	1.4796	0.02433	0.3203:0.1509:0.0889:0.4399	.	30;30;30	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	30	.	ENSP00000205061:L30R	L	-	2	0	GLG1	73198405	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	0.306000	0.19279	-0.667000	0.05303	0.379000	0.24179	CTC	-	NULL		0.706	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	protein_coding	OTTHUMT00000435750.1	A	NM_012201		73198405	-1	no_errors	NM_012201	genbank	human	validated	54_36p	missense	SNP	0.022	C
SPDYE18	100505767	genome.wustl.edu	37	7	76682489	76682489	+	RNA	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr7:76682489C>T	ENST00000459742.1	+	0	58																											TTGGGGTCCTCGTCGTCCTCC	0.562																																																0			7																																								76520425			729545																															7.37:g.76682489C>T			76520425		Missense_Mutation	SNP	NULL	p.E36K	ENST00000459742.1	37	c.106		7																																																																																			-	NULL		0.562	RP11-467H10.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC729545	processed_transcript	OTTHUMT00000473089.1	C			76520425	-1	no_errors	XM_001722895	genbank	human	model	54_36p	missense	SNP	0.009	T
FASN	2194	genome.wustl.edu	37	17	80053327	80053327	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr17:80053327C>T	ENST00000306749.2	-	3	367	c.149G>A	c.(148-150)cGg>cAg	p.R50Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	50	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTGCCGGACCGCCGGGGCAG	0.652																																					Colon(59;314 1043 11189 28578 32273)											0			17											51.0	53.0	52.0					17																	80053327		2200	4300	6500	77646616	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.149G>A	17.37:g.80053327C>T	ENSP00000304592:p.Arg50Gln		77646616	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C,superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12,superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N,HMMPfam_adh_short,superfamily_ACP-like,HMMPfam_PP-binding,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases,HMMPfam_Thioesterase	p.R50Q	ENST00000306749.2	37	c.149	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079019	0.94050	.	.	ENSG00000169710	ENST00000306749	T	0.29655	1.56	3.86	3.86	0.44501	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	U	0.000001	T	0.56572	0.1994	M	0.78223	2.4	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.65340	-0.6192	10	0.87932	D	0	-37.6349	15.7949	0.78401	0.0:1.0:0.0:0.0	.	50	P49327	FAS_HUMAN	Q	50	ENSP00000304592:R50Q	ENSP00000304592:R50Q	R	-	2	0	FASN	77646616	1.000000	0.71417	0.632000	0.29296	0.799000	0.45148	7.443000	0.80521	1.708000	0.51301	0.491000	0.48974	CGG	-	superfamily_Thiolase-like,HMMPfam_ketoacyl-synt		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	C	NM_004104		77646616	-1	no_errors	NM_004104	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SLC26A7	115111	genome.wustl.edu	37	8	92355635	92355635	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:92355635C>A	ENST00000276609.3	+	9	1320	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P361T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P361T|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTCTGCATACCAAGTGCTGC	0.453																																																0			8											94.0	91.0	92.0					8																	92355635		2203	4300	6503	92424811	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1081C>A	8.37:g.92355635C>A	ENSP00000276609:p.Pro361Thr		92424811		Missense_Mutation	SNP	HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS	p.P361T	ENST00000276609.3	37	c.1081	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331711	0.81690	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93712	-3.27;-3.27;-3.27	5.89	5.89	0.94794	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	L	0.55990	1.75	0.48185	D	0.999609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93238	0.6623	10	0.21540	T	0.41	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	361;361	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	T	361	ENSP00000428849:P361T;ENSP00000276609:P361T;ENSP00000309504:P361T	ENSP00000276609:P361T	P	+	1	0	SLC26A7	92424811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.114000	0.64648	2.788000	0.95919	0.557000	0.71058	CCA	-	HMMPfam_Sulfate_transp		0.453	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	C			92424811	+1	no_errors	NM_134266	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIAA1429	25962	genome.wustl.edu	37	8	95505026	95505026	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:95505026T>G	ENST00000297591.5	-	21	4737	c.4662A>C	c.(4660-4662)gaA>gaC	p.E1554D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1554					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTCAGAGAGTTCAATTAAGT	0.328																																																0			8											79.0	73.0	75.0					8																	95505026		2203	4300	6503	95574202	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4662A>C	8.37:g.95505026T>G	ENSP00000297591:p.Glu1554Asp		95574202	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	NULL	p.E1554D	ENST00000297591.5	37	c.4662	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040475	0.55003	.	.	ENSG00000164944	ENST00000297591	T	0.48201	0.82	5.51	0.398	0.16319	.	0.174988	0.49916	D	0.000130	T	0.30039	0.0752	N	0.16743	0.435	0.80722	D	1	P	0.40834	0.73	B	0.41917	0.37	T	0.02885	-1.1098	10	0.30854	T	0.27	-13.9432	10.0237	0.42059	0.0:0.4197:0.0:0.5803	.	1554	Q69YN4	VIR_HUMAN	D	1554	ENSP00000297591:E1554D	ENSP00000297591:E1554D	E	-	3	2	KIAA1429	95574202	0.162000	0.22906	0.998000	0.56505	0.958000	0.62258	-0.517000	0.06275	0.041000	0.15688	-1.054000	0.02325	GAA	-	NULL		0.328	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	T	NM_015496		95574202	-1	no_errors	NM_015496	genbank	human	validated	54_36p	missense	SNP	0.995	G
TMEM45A	55076	genome.wustl.edu	37	3	100274162	100274162	+	Missense_Mutation	SNP	G	G	A	rs146094123		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:100274162G>A	ENST00000323523.4	+	2	420	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	TMEM45A_ENST00000403410.1_Missense_Mutation_p.R52Q|TMEM45A_ENST00000462884.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	36						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AAGCAAAAGCGAACCTGCTAT	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0															0			3						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	183.0	187.0	185.0		107	5.0	0.9	3	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM45A	NM_018004.1	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	36/276	100274162	2,13004	2203	4300	6503	101756852	SO:0001583	missense	55076			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.107G>A	3.37:g.100274162G>A	ENSP00000319009:p.Arg36Gln		101756852	Q53YW5	Missense_Mutation	SNP	HMMPfam_DUF716	p.R36Q	ENST00000323523.4	37	c.107	CCDS2937.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768105	0.49680	2.27E-4	1.16E-4	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.49432	1.38;1.38;0.78	5.84	4.97	0.65823	.	0.307696	0.35466	N	0.003200	T	0.35624	0.0938	L	0.58302	1.8	0.27880	N	0.939706	P;P	0.37997	0.614;0.528	B;B	0.26864	0.074;0.019	T	0.33523	-0.9865	10	0.28530	T	0.3	-11.7505	7.9582	0.30055	0.2372:0.0:0.7628:0.0	.	52;36	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	Q	36;52;52	ENSP00000319009:R36Q;ENSP00000385089:R52Q;ENSP00000405597:R52Q	ENSP00000319009:R36Q	R	+	2	0	TMEM45A	101756852	0.798000	0.28890	0.882000	0.34594	0.832000	0.47134	2.565000	0.45939	1.470000	0.48102	0.655000	0.94253	CGA	-	NULL		0.388	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	protein_coding	OTTHUMT00000317571.1	G	NM_018004		101756852	+1	no_errors	NM_018004	genbank	human	provisional	54_36p	missense	SNP	0.200	A
GRHL2	79977	genome.wustl.edu	37	8	102582623	102582623	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:102582623G>A	ENST00000251808.3	+	5	1072		c.e5+1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGACATCAAGGTGAGTTACCA	0.358																																																0			8											163.0	162.0	162.0					8																	102582623		2203	4300	6503	102651799	SO:0001630	splice_region_variant	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.734+1G>A	8.37:g.102582623G>A			102651799	A1L303|Q6NT03|Q9H8B8	Splice_Site	SNP	-	e5+1	ENST00000251808.3	37	c.734+1	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358675	0.61403	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7783	0.29049	0.1443:0.0:0.8557:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL2	102651799	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	6.208000	0.72165	2.374000	0.81015	0.650000	0.86243	.	-	-		0.358	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	protein_coding	OTTHUMT00000313882.1	G	NM_024915	Intron	102651799	+1	no_errors	NM_024915	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
NXT2	55916	genome.wustl.edu	37	X	108779198	108779198	+	5'Flank	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:108779198C>A	ENST00000372106.1	+	0	0				NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Missense_Mutation_p.S29R|NXT2_ENST00000372107.1_5'Flank	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						CACACACCAGCCACTCAAGGT	0.418																																																0			X											43.0	40.0	41.0					X																	108779198		2203	4300	6503	108665854	SO:0001631	upstream_gene_variant	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185		X.37:g.108779198C>A	Exception_encountered		108665854	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	superfamily_SSF54427,HMMPfam_NTF2	p.S29R	ENST00000372106.1	37	c.87	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454135	0.26161	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.23	1.1	0.20463	.	1.385230	0.05057	N	0.479224	T	0.52964	0.1767	.	.	.	0.09310	N	1	P	0.51351	0.944	P	0.56042	0.79	T	0.33266	-0.9875	8	0.87932	D	0	.	5.5501	0.17086	0.0:0.5359:0.0:0.4641	.	29	Q9NPJ8-3	.	R	29	.	ENSP00000218004:S29R	S	+	3	2	NXT2	108665854	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.983000	0.03759	0.070000	0.16634	0.529000	0.55759	AGC	-	NULL		0.418	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	protein_coding	OTTHUMT00000057886.1	C	NM_018698		108665854	+1	no_errors	NM_018698	genbank	human	provisional	54_36p	missense	SNP	0.000	A
PLS3	5358	genome.wustl.edu	37	X	114864146	114864146	+	Splice_Site	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:114864146G>A	ENST00000420625.2	+	5	501		c.e5-1		PLS3_ENST00000537301.1_Splice_Site|PLS3_ENST00000355899.3_Splice_Site|PLS3_ENST00000539310.1_Splice_Site|PLS3_ENST00000289290.3_Splice_Site	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3						bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CATAATTTTAGAGGAAGAAAA	0.308																																					Colon(160;1047 1864 8490 12969 29601)											0			X											108.0	110.0	109.0					X																	114864146		2203	4300	6503	114770402	SO:0001630	splice_region_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.368-1G>A	X.37:g.114864146G>A			114770402	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Splice_Site	SNP	-	e4-1	ENST00000420625.2	37	c.368-1	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412087	0.83340	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8052	0.85625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLS3	114770402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.279000	0.76181	0.600000	0.82982	.	-	-		0.308	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	protein_coding	OTTHUMT00000057976.2	G		Intron	114770402	+1	no_errors	NM_005032	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
DSE	29940	genome.wustl.edu	37	6	116747991	116747991	+	Splice_Site	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr6:116747991G>T	ENST00000331677.3	+	4	1114		c.e4+1		DSE_ENST00000537543.1_Splice_Site|DSE_ENST00000452085.3_Splice_Site|DSE_ENST00000359564.2_Splice_Site			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATGAATCAAGGTGGGTGTGGA	0.463																																																0			6											78.0	67.0	70.0					6																	116747991		2203	4300	6503	116854684	SO:0001630	splice_region_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.670+1G>T	6.37:g.116747991G>T			116854684	Q5R3K6	Splice_Site	SNP	-	e2+1	ENST00000331677.3	37	c.670+1	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063085	0.55432	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSE	116854684	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.758000	0.85224	2.765000	0.95021	0.655000	0.94253	.	-	-		0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	protein_coding	OTTHUMT00000041940.2	G	NM_013352	Intron	116854684	+1	no_errors	NM_001080976	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
WARS2	10352	genome.wustl.edu	37	1	119575848	119575848	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:119575848C>G	ENST00000235521.4	-	6	795	c.769G>C	c.(769-771)Gac>Cac	p.D257H	WARS2_ENST00000537870.1_Missense_Mutation_p.D163H|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	257					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAGGTGAAGTCTGTCACAGCC	0.582																																																0			1											113.0	103.0	106.0					1																	119575848		2203	4300	6503	119377371	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.769G>C	1.37:g.119575848C>G	ENSP00000235521:p.Asp257His		119377371	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I	p.D257H	ENST00000235521.4	37	c.769	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.059759	0.93846	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.35973	1.28;1.28	5.87	5.87	0.94306	.	0.092500	0.85682	D	0.000000	T	0.77096	0.4080	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86870	0.2035	10	0.87932	D	0	-27.3781	20.206	0.98277	0.0:1.0:0.0:0.0	.	200;257	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	H	257;163	ENSP00000235521:D257H;ENSP00000438807:D163H	ENSP00000235521:D257H	D	-	1	0	WARS2	119377371	1.000000	0.71417	0.966000	0.40874	0.914000	0.54420	7.252000	0.78309	2.785000	0.95823	0.655000	0.94253	GAC	-	HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase		0.582	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	protein_coding	OTTHUMT00000034362.1	C	NM_015836		119377371	-1	no_errors	NM_015836	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
HCAR2	338442	genome.wustl.edu	37	12	123186799	123186799	+	Silent	SNP	C	C	G	rs201282262		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr12:123186799C>G	ENST00000328880.5	-	1	1091	c.1032G>C	c.(1030-1032)gcG>gcC	p.A344A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	344					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGGCCATTAACGCCTCTGGAG	0.562																																																0			12											162.0	157.0	159.0					12																	123186799		2203	4300	6503	121752752	SO:0001819	synonymous_variant	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.1032G>C	12.37:g.123186799C>G			121752752	A0PJL5|A7LGG3	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A344	ENST00000328880.5	37	c.1032	CCDS9235.1	12																																																																																			-	NULL		0.562	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIACR1	protein_coding	OTTHUMT00000370202.1	C	NM_177551		121752752	-1	no_errors	NM_177551	genbank	human	validated	54_36p	silent	SNP	0.000	G
GRIA3	2892	genome.wustl.edu	37	X	122532605	122532605	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chrX:122532605C>T	ENST00000371251.1	+	7	1083	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	GRIA3_ENST00000264357.5_Missense_Mutation_p.P344L|GRIA3_ENST00000371256.5_Missense_Mutation_p.P344L|GRIA3_ENST00000542149.1_Missense_Mutation_p.P344L|GRIA3_ENST00000541091.1_Missense_Mutation_p.P328L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	344					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTAGCAAATCCTGCTGTGCCC	0.473																																																0			X											105.0	81.0	89.0					X																	122532605		2203	4300	6503	122360286	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1031C>T	X.37:g.122532605C>T	ENSP00000360297:p.Pro344Leu		122360286	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.P344L	ENST00000371251.1	37	c.1031	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139293	0.56936	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.14766	2.64;2.48;2.64;2.64;4.11	5.93	5.06	0.68205	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.99;0.994;0.989	T	0.17992	-1.0351	10	0.72032	D	0.01	.	15.1024	0.72292	0.0:0.862:0.138:0.0	.	328;344;344	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	344;344;344;344;328	ENSP00000264357:P344L;ENSP00000446146:P344L;ENSP00000360302:P344L;ENSP00000360297:P344L;ENSP00000446440:P328L	ENSP00000264357:P344L	P	+	2	0	GRIA3	122360286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.232000	0.43678	0.600000	0.82982	CCT	-	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor		0.473	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122360286	+1	no_errors	NM_000828	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CLMP	79827	genome.wustl.edu	37	11	122944324	122944324	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr11:122944324C>A	ENST00000448775.2	-	7	1320	c.980G>T	c.(979-981)gGg>gTg	p.G327V	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	327					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGTGGCCAGCCCTGGCTGGGG	0.582																																																0			11											121.0	116.0	118.0					11																	122944324		2202	4299	6501	122449534	SO:0001583	missense	79827			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.980G>T	11.37:g.122944324C>A	ENSP00000405577:p.Gly327Val		122449534		Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMSmart_IGc2,HMMPfam_ig	p.G327V	ENST00000448775.2	37	c.980	CCDS8441.1	11	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042217	0.55003	.	.	ENSG00000166250	ENST00000448775	T	0.74421	-0.84	5.44	5.44	0.79542	.	0.284501	0.31554	N	0.007448	T	0.69602	0.3129	N	0.03608	-0.345	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.73360	-0.4007	10	0.32370	T	0.25	.	14.7531	0.69543	0.0:1.0:0.0:0.0	.	327	Q9H6B4	CLMP_HUMAN	V	327	ENSP00000405577:G327V	ENSP00000405577:G327V	G	-	2	0	CLMP	122449534	1.000000	0.71417	0.993000	0.49108	0.764000	0.43329	2.096000	0.41738	2.559000	0.86315	0.655000	0.94253	GGG	-	NULL		0.582	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAM	protein_coding	OTTHUMT00000387542.1	C	NM_024769		122449534	-1	no_errors	NM_024769	genbank	human	validated	54_36p	missense	SNP	0.514	A
HNRNPKP1	389322	genome.wustl.edu	37	5	126848464	126848464	+	IGR	SNP	A	A	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr5:126848464A>T								CTD-2195M15.3 (34035 upstream) : PRRC1 (4836 downstream)																							TATCTTCTGCAGGGCATTTAC	0.423																																																0			5																																								126876363	SO:0001628	intergenic_variant	389322																															5.37:g.126848464A>T			126876363		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.423					LOC389322			A			126876363	-1	pseudogene	XR_016670	genbank	human	model	54_36p	rna	SNP	1.000	T
SLC27A4	10999	genome.wustl.edu	37	9	131117388	131117388	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr9:131117388G>A	ENST00000300456.4	+	10	1498	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	461					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D461Y(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGCCGCTTCGATGGCTACCT	0.622																																					Pancreas(107;1554 2241 10946 12953)											1	Substitution - Missense(1)	lung(1)	9											41.0	36.0	38.0					9																	131117388		2203	4300	6503	130157209	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1381G>A	9.37:g.131117388G>A	ENSP00000300456:p.Asp461Asn		130157209	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_LIPOCALIN,PatternScan_AMP_BINDING	p.D461N	ENST00000300456.4	37	c.1381	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.068160	0.93950	.	.	ENSG00000167114	ENST00000300456	T	0.40225	1.04	5.77	5.77	0.91146	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67169	-0.5738	10	0.18276	T	0.48	-24.9549	18.9865	0.92773	0.0:0.0:1.0:0.0	.	461	Q6P1M0	S27A4_HUMAN	N	461	ENSP00000300456:D461N	ENSP00000300456:D461N	D	+	1	0	SLC27A4	130157209	1.000000	0.71417	0.625000	0.29200	0.998000	0.95712	7.644000	0.83416	2.724000	0.93272	0.561000	0.74099	GAT	-	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding		0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	protein_coding	OTTHUMT00000054432.2	G			130157209	+1	no_errors	NM_005094	genbank	human	provisional	54_36p	missense	SNP	0.996	A
ADCY8	114	genome.wustl.edu	37	8	131921955	131921955	+	Splice_Site	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:131921955C>T	ENST00000286355.5	-	6	3731	c.1639G>A	c.(1639-1641)Ggg>Agg	p.G547R	ADCY8_ENST00000377928.3_Splice_Site_p.G547R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTATCTTACCCAGGGATTCCT	0.453										HNSCC(32;0.087)																																						0			8											219.0	198.0	205.0					8																	131921955		2203	4300	6503	131991137	SO:0001630	splice_region_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1640+1G>A	8.37:g.131921955C>T			131991137		Missense_Mutation	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.G547R	ENST00000286355.5	37	c.1639	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705384	0.89018	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.86627	-2.15;-2.15;-2.15	5.92	5.92	0.95590	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	H	0.95004	3.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.96239	0.9174	10	0.87932	D	0	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	547;547	E7EVL1;P40145	.;ADCY8_HUMAN	R	547;547;162	ENSP00000286355:G547R;ENSP00000367161:G547R;ENSP00000428010:G162R	ENSP00000286355:G547R	G	-	1	0	ADCY8	131991137	1.000000	0.71417	0.985000	0.45067	0.372000	0.29890	7.818000	0.86416	2.822000	0.97130	0.650000	0.86243	GGG	-	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc		0.453	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	protein_coding	OTTHUMT00000380080.1	C		Missense_Mutation	131991137	-1	no_errors	NM_001115	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
FAM135B	51059	genome.wustl.edu	37	8	139164354	139164354	+	Silent	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:139164354G>T	ENST00000395297.1	-	13	2534	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	788								p.T788T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTGCTGCTTGGTGTCCGCAT	0.522										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	lung(2)	8											49.0	49.0	49.0					8																	139164354		2203	4300	6503	139233536	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2364C>A	8.37:g.139164354G>T			139233536	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676	p.T788	ENST00000395297.1	37	c.2364	CCDS6375.2	8																																																																																			-	NULL		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139233536	-1	no_errors	NM_015912	genbank	human	validated	54_36p	silent	SNP	0.000	T
ZC3H3	23144	genome.wustl.edu	37	8	144620674	144620674	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr8:144620674C>A	ENST00000262577.5	-	2	894	c.863G>T	c.(862-864)gGa>gTa	p.G288V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	288					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTGCCTGGGTCCTGAGGCCGG	0.617																																																0			8											58.0	67.0	64.0					8																	144620674		2203	4298	6501	144691817	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.863G>T	8.37:g.144620674C>A	ENSP00000262577:p.Gly288Val		144691817	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356	p.G288V	ENST00000262577.5	37	c.863	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766034	0.49574	.	.	ENSG00000014164	ENST00000262577	T	0.03181	4.02	4.68	3.72	0.42706	.	0.313548	0.26609	N	0.023424	T	0.08980	0.0222	L	0.57536	1.79	0.09310	N	0.999992	D	0.64830	0.994	P	0.56865	0.808	T	0.06734	-1.0810	10	0.72032	D	0.01	-11.1153	6.4739	0.22024	0.0:0.6248:0.2753:0.0999	.	288	Q8IXZ2	ZC3H3_HUMAN	V	288	ENSP00000262577:G288V	ENSP00000262577:G288V	G	-	2	0	ZC3H3	144691817	0.000000	0.05858	0.587000	0.28692	0.916000	0.54674	0.387000	0.20718	2.528000	0.85240	0.655000	0.94253	GGA	-	NULL		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	protein_coding	OTTHUMT00000382011.2	C	NM_015117		144691817	-1	no_errors	NM_015117	genbank	human	validated	54_36p	missense	SNP	0.024	A
LARS	51520	genome.wustl.edu	37	5	145529206	145529206	+	Silent	SNP	A	A	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr5:145529206A>T	ENST00000394434.2	-	15	1648	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	LARS_ENST00000510191.1_Silent_p.I440I|LARS_ENST00000274562.9_Silent_p.I467I|LARS_ENST00000545646.1_Silent_p.I448I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	494	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCTTTTTCTGAATAGTCTTCT	0.373																																																0			5											264.0	256.0	259.0					5																	145529206		2203	4300	6503	145509399	SO:0001819	synonymous_variant	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1482T>A	5.37:g.145529206A>T			145509399	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,HMMPfam_tRNA-synt_1g,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1	p.I494	ENST00000394434.2	37	c.1482	CCDS34265.1	5																																																																																			-	superfamily_Nucleotidylyl transferase,superfamily_ValRS/IleRS/LeuRS editing domain		0.373	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	protein_coding	OTTHUMT00000373367.1	A	NM_020117		145509399	-1	no_errors	NM_020117	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
HIST2H2BF	440689	genome.wustl.edu	37	1	149783748	149783748	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:149783748T>C	ENST00000369167.1	-	1	166	c.131A>G	c.(130-132)aAg>aGg	p.K44R	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.K44R|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.K44R	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	44					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTCAGCACCTTGTACACGTA	0.572																																																0			1											204.0	183.0	190.0					1																	149783748		2203	4297	6500	148050372	SO:0001583	missense	440689			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.131A>G	1.37:g.149783748T>C	ENSP00000358164:p.Lys44Arg		148050372	A8K0U9|B4DLA9	Missense_Mutation	SNP	superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.K44R	ENST00000369167.1	37	c.131	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436137	0.83885	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.37915	1.17;1.17;1.17	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.50627	D	0.000108	T	0.24198	0.0586	L	0.49513	1.565	0.40996	D	0.984894	P;P;B	0.50272	0.933;0.616;0.119	P;B;B	0.45195	0.473;0.217;0.137	T	0.07065	-1.0792	10	0.56958	D	0.05	.	11.9124	0.52747	0.0:0.0:0.0:1.0	.	44;44;44	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	R	44	ENSP00000445831:K44R;ENSP00000407461:K44R;ENSP00000358164:K44R	ENSP00000358164:K44R	K	-	2	0	HIST2H2BF	148050372	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.170000	0.77587	1.851000	0.53745	0.155000	0.16302	AAG	-	superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone		0.572	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	protein_coding	OTTHUMT00000033453.2	T	NM_001024599		148050372	-1	no_errors	NM_001024599	genbank	human	provisional	54_36p	missense	SNP	1.000	C
DPP4	1803	genome.wustl.edu	37	2	162865112	162865112	+	Silent	SNP	A	A	G	rs201024370		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:162865112A>G	ENST00000360534.3	-	22	2507	c.1947T>C	c.(1945-1947)tgT>tgC	p.C649C	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	649					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CGGCTATTCCACACTTGAACA	0.463																																																0			2											102.0	90.0	94.0					2																	162865112		2203	4300	6503	162573358	SO:0001819	synonymous_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1947T>C	2.37:g.162865112A>G			162573358	Q53TN1	Silent	SNP	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER	p.C649	ENST00000360534.3	37	c.1947	CCDS2216.1	2																																																																																			-	superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9		0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	protein_coding	OTTHUMT00000255079.2	A			162573358	-1	no_errors	NM_001935	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179613334	179613334	+	Intron	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:179613334G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P4598Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AGCTTCTTCTGGTTGACCACT	0.348																																																0			2											127.0	136.0	133.0					2																	179613334		2203	4299	6502	179321579	SO:0001627	intron_variant	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.10360+4516C>A	2.37:g.179613334G>T			179321579	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_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.P4598Q	ENST00000591111.1	37	c.13793		2	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050685	0.19827	.	.	ENSG00000155657	ENST00000360870	T	0.56941	0.43	6.01	3.93	0.45458	.	.	.	.	.	T	0.31327	0.0793	N	0.17082	0.46	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.05750	-1.0866	9	0.11485	T	0.65	.	9.0657	0.36462	0.0679:0.0:0.5545:0.3776	.	4598	Q8WZ42-6	.	Q	4598	ENSP00000354117:P4598Q	ENSP00000354117:P4598Q	P	-	2	0	TTN	179321579	0.009000	0.17119	0.428000	0.26697	0.284000	0.27059	0.389000	0.20751	0.559000	0.29153	0.650000	0.86243	CCA	-	NULL		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179321579	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	missense	SNP	0.465	T
EIF2B5	8893	genome.wustl.edu	37	3	183858257	183858257	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:183858257C>T	ENST00000273783.3	+	7	1017	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R299C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	299			R -> H (in VWM). {ECO:0000269|PubMed:11704758}.		astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATATGGTGCCCGTGTCTCCAA	0.522																																																0			3											272.0	256.0	261.0					3																	183858257		2203	4300	6503	185340951	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.895C>T	3.37:g.183858257C>T	ENSP00000273783:p.Arg299Cys		185340951	Q541Z1|Q96D04	Missense_Mutation	SNP	superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2	p.R299C	ENST00000273783.3	37	c.895	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	c	32	5.121721	0.94385	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.99511	-6.05;-6.05	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.053967	0.64402	D	0.000001	D	0.99387	0.9784	M	0.86864	2.845	0.80722	D	1	P;D	0.76494	0.881;0.999	B;P	0.57720	0.277;0.826	D	0.99091	1.0840	10	0.36615	T	0.2	.	14.8478	0.70272	0.1437:0.8563:0.0:0.0	.	299;299	E9PC74;Q13144	.;EI2BE_HUMAN	C	299;299;55	ENSP00000273783:R299C;ENSP00000409142:R299C	ENSP00000273783:R299C	R	+	1	0	EIF2B5	185340951	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.885000	0.69736	2.746000	0.94184	0.563000	0.77884	CGT	-	superfamily_SSF53448		0.522	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	protein_coding	OTTHUMT00000346168.1	C			185340951	+1	no_errors	NM_003907	genbank	human	validated	54_36p	missense	SNP	1.000	T
ST6GAL1	6480	genome.wustl.edu	37	3	186761001	186761001	+	Silent	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:186761001C>G	ENST00000169298.3	+	4	1184	c.510C>G	c.(508-510)ccC>ccG	p.P170P	ST6GAL1_ENST00000448044.1_Silent_p.P170P|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	170					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTTATCTGCCCAAGGAGAGCA	0.552																																																0			3											106.0	103.0	104.0					3																	186761001		2203	4300	6503	188243695	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.510C>G	3.37:g.186761001C>G			188243695	A8KA14|B2R513|D3DNV3	Silent	SNP	HMMPfam_Glyco_transf_29	p.P170	ENST00000169298.3	37	c.510	CCDS3285.1	3																																																																																			-	HMMPfam_Glyco_transf_29		0.552	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	protein_coding	OTTHUMT00000344399.1	C	NM_173216		188243695	+1	no_errors	NM_003032	genbank	human	reviewed	54_36p	silent	SNP	0.171	G
SLC51A	200931	genome.wustl.edu	37	3	195955131	195955131	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr3:195955131C>G	ENST00000296327.5	+	5	717	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	170					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ctgtccacggctgctgctCAC	0.672																																																0			3											54.0	54.0	54.0					3																	195955131		2203	4300	6503	197439528	SO:0001583	missense	200931				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.508C>G	3.37:g.195955131C>G	ENSP00000296327:p.Leu170Val		197439528	Q6ZMC7	Missense_Mutation	SNP	NULL	p.L170V	ENST00000296327.5	37	c.508	CCDS3314.1	3	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298580	0.05532	.	.	ENSG00000163959	ENST00000296327	T	0.41400	1.0	5.5	-2.14	0.07123	.	0.673556	0.12961	N	0.425028	T	0.21267	0.0512	L	0.29908	0.895	0.26957	N	0.965906	B	0.26672	0.156	B	0.25614	0.062	T	0.35500	-0.9786	10	0.02654	T	1	-19.162	7.0312	0.24969	0.6079:0.184:0.0:0.2081	.	170	Q86UW1	OSTA_HUMAN	V	170	ENSP00000296327:L170V	ENSP00000296327:L170V	L	+	1	2	AC069257.9	197439528	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.215000	0.09279	-0.663000	0.05331	-0.182000	0.12963	CTG	-	NULL		0.672	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTalpha	protein_coding	OTTHUMT00000341253.1	C	NM_152672		197439528	+1	no_errors	NM_152672	genbank	human	validated	54_36p	missense	SNP	0.000	G
MARCH4	57574	genome.wustl.edu	37	2	217234805	217234805	+	Missense_Mutation	SNP	G	G	A	rs199661444		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:217234805G>A	ENST00000273067.4	-	1	1945	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	60	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGCAGGGGCGCTTGAGGAGG	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14024	0.0		0.0	False		,,,				2504	0.0															0			2						G	VAL/ALA	12,4336		0,12,2162	8.0	9.0	8.0		179	4.4	1.0	2		8	0,8484		0,0,4242	yes	missense	MARCH4	NM_020814.2	64	0,12,6404	AA,AG,GG		0.0,0.276,0.0935	benign	60/411	217234805	12,12820	2174	4242	6416	216943050	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.179C>T	2.37:g.217234805G>A	ENSP00000273067:p.Ala60Val		216943050	Q4KMN7|Q86WR8	Missense_Mutation	SNP	HMMSmart_RINGv,HMMPfam_zf-C3HC4	p.A60V	ENST00000273067.4	37	c.179	CCDS33376.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.69	3.193764	0.58017	0.00276	0.0	ENSG00000144583	ENST00000273067	T	0.14516	2.5	5.24	4.36	0.52297	.	0.599767	0.15826	N	0.242775	T	0.08044	0.0201	N	0.24115	0.695	0.29288	N	0.869584	B	0.33073	0.396	B	0.16289	0.015	T	0.12041	-1.0563	10	0.62326	D	0.03	0.155	8.2651	0.31808	0.0837:0.1712:0.7451:0.0	.	60	Q9P2E8	MARH4_HUMAN	V	60	ENSP00000273067:A60V	ENSP00000273067:A60V	A	-	2	0	MARCH4	216943050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.423000	0.59861	1.423000	0.47198	0.591000	0.81541	GCG	-	NULL		0.697	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	protein_coding	OTTHUMT00000337272.2	G	NM_020814		216943050	-1	no_errors	NM_020814	genbank	human	validated	54_36p	missense	SNP	0.997	A
ABCB10	23456	genome.wustl.edu	37	1	229685102	229685102	+	Silent	SNP	G	G	T			TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr1:229685102G>T	ENST00000344517.4	-	2	639	c.597C>A	c.(595-597)atC>atA	p.I199I	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	199	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTTGGTATAGATGACATCAA	0.532																																																0			1											98.0	89.0	92.0					1																	229685102		2203	4300	6503	227751725	SO:0001819	synonymous_variant	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.597C>A	1.37:g.229685102G>T			227751725	Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.I199	ENST00000344517.4	37	c.597	CCDS1580.1	1																																																																																			-	superfamily_ABC_TM_1,HMMPfam_ABC_membrane		0.532	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	protein_coding	OTTHUMT00000095240.1	G	NM_012089		227751725	-1	no_errors	NM_012089	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ESPNL	339768	genome.wustl.edu	37	2	239037432	239037432	+	Missense_Mutation	SNP	G	G	A	rs374688238		TCGA-36-2533-01A-01D-1526-09	TCGA-36-2533-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1156f297-c04a-465f-8929-e800a9a1c99e	04f53806-7926-43b9-baef-f1a8132bb662	g.chr2:239037432G>A	ENST00000343063.3	+	8	1563	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	ESPNL_ENST00000409169.1_Missense_Mutation_p.G390R|ESPNL_ENST00000409506.1_Missense_Mutation_p.G66R	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	434										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGACATCGACGGGCTGGTGCC	0.701																																																0			2											11.0	13.0	12.0					2																	239037432		2161	4261	6422	238702171	SO:0001583	missense	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1300G>A	2.37:g.239037432G>A	ENSP00000339115:p.Gly434Arg		238702171	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank	p.G434R	ENST00000343063.3	37	c.1300	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	g	12.41	1.929442	0.34096	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506;ENST00000423032	T;T;T	0.06294	3.32;3.32;3.32	4.51	3.61	0.41365	.	0.577500	0.16058	N	0.231607	T	0.05364	0.0142	L	0.44542	1.39	0.09310	N	0.99999	P;P	0.43519	0.809;0.71	B;B	0.35114	0.196;0.096	T	0.36138	-0.9760	10	0.49607	T	0.09	-16.9495	6.0898	0.19989	0.1022:0.0:0.7119:0.1859	.	390;434	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	R	434;390;66;66	ENSP00000339115:G434R;ENSP00000386577:G390R;ENSP00000386579:G66R	ENSP00000339115:G434R	G	+	1	0	ESPNL	238702171	0.050000	0.20438	0.992000	0.48379	0.315000	0.28087	1.368000	0.34216	0.871000	0.35750	0.306000	0.20318	GGG	-	NULL		0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	protein_coding	OTTHUMT00000257164.2	G	NM_194312		238702171	+1	no_errors	NM_194312	genbank	human	validated	54_36p	missense	SNP	0.059	A
