#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
ZNF876P	642280	genome.wustl.edu	37	4	248350	248350	+	RNA	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:248350A>T	ENST00000356347.3	+	0	1174					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCACACCTTACTAAACATAA	0.373																																																0			4																																								238350			0			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248350A>T			238350		Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.T149S	ENST00000356347.3	37	c.445		4																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.373	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF732	pseudogene	OTTHUMT00000357870.2	A	NR_027481		238350	+1	no_start_codon	ENST00000356347	ensembl	human	known	54_36p	missense	SNP	0.042	T
ARHGEF10	9639	genome.wustl.edu	37	8	1882101	1882101	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:1882101C>A	ENST00000398564.1	+	26	3290	c.3290C>A	c.(3289-3291)gCt>gAt	p.A1097D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1034D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1068D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A1096D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1072D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1097					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGACTCATGCTGTAGAGGTA	0.493																																																0			8											131.0	119.0	123.0					8																	1882101		2203	4300	6503	1869508	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3290C>A	8.37:g.1882101C>A	ENSP00000381571:p.Ala1097Asp		1869508	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS	p.A1072D	ENST00000398564.1	37	c.3215		8	.	.	.	.	.	.	.	.	.	.	C	2.633	-0.285844	0.05605	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;1.58;1.58	5.11	1.12	0.20585	.	0.584303	0.19684	N	0.108456	T	0.32224	0.0822	N	0.08118	0	0.09310	N	1	B;B	0.32071	0.355;0.001	B;B	0.31191	0.125;0.026	T	0.23119	-1.0197	10	0.12430	T	0.62	-0.1988	5.7246	0.18006	0.3347:0.4862:0.0:0.1791	.	1034;1072	O15013-7;O15013-5	.;.	D	1072;1034;1096;1097;1068;716	ENSP00000340297:A1072D;ENSP00000427909:A1034D;ENSP00000431012:A1096D;ENSP00000381571:A1097D;ENSP00000262112:A1068D;ENSP00000427768:A716D	ENSP00000262112:A1068D	A	+	2	0	ARHGEF10	1869508	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.934000	0.28910	-0.017000	0.14103	-0.953000	0.02652	GCT	-	superfamily_WD40_like		0.493	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	protein_coding		C			1869508	+1	no_errors	NM_014629	genbank	human	reviewed	54_36p	missense	SNP	0.003	A
ABCA3	21	genome.wustl.edu	37	16	2373600	2373600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:2373600C>T	ENST00000301732.5	-	7	1237	c.537G>A	c.(535-537)tgG>tgA	p.W179*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.W179*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.W179*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	179					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAGTAGTGTGCCAGCCTTCTG	0.502																																																0			16											281.0	307.0	298.0					16																	2373600		2198	4300	6498	2313601	SO:0001587	stop_gained	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.537G>A	16.37:g.2373600C>T	ENSP00000301732:p.Trp179*		2313601	B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.W179*	ENST00000301732.5	37	c.537	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.717737	0.99247	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9832	0.89147	0.0:1.0:0.0:0.0	.	.	.	.	X	179;241	.	ENSP00000301732:W179X	W	-	3	0	ABCA3	2313601	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.024000	0.76443	2.824000	0.97209	0.655000	0.94253	TGG	-	NULL		0.502	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2313601	-1	no_errors	NM_001089	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
OR1A1	8383	genome.wustl.edu	37	17	3119164	3119164	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:3119164A>C	ENST00000304094.1	+	1	250	c.250A>C	c.(250-252)Aac>Cac	p.N84H		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GATGCTGGCCAACCATCTCTT	0.473																																																0			17											173.0	145.0	155.0					17																	3119164		2203	4300	6503	3065914	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.250A>C	17.37:g.3119164A>C	ENSP00000305207:p.Asn84His		3065914	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.N84H	ENST00000304094.1	37	c.250	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337042	0.41398	.	.	ENSG00000172146	ENST00000304094	T	0.00472	7.19	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.01061	0.0035	M	0.72353	2.195	0.09310	N	1	P	0.49961	0.93	P	0.57204	0.815	T	0.40515	-0.9559	10	0.87932	D	0	.	13.5918	0.61964	1.0:0.0:0.0:0.0	.	84	Q9P1Q5	OR1A1_HUMAN	H	84	ENSP00000305207:N84H	ENSP00000305207:N84H	N	+	1	0	OR1A1	3065914	0.000000	0.05858	0.868000	0.34077	0.368000	0.29767	1.015000	0.29963	2.089000	0.63090	0.358000	0.22013	AAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	protein_coding	OTTHUMT00000207292.1	A	NM_014565		3065914	+1	no_errors	NM_014565	genbank	human	provisional	54_36p	missense	SNP	0.004	C
JAK2	3717	genome.wustl.edu	37	9	5126737	5126737	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:5126737C>T	ENST00000381652.3	+	25	3839	c.3345C>T	c.(3343-3345)tcC>tcT	p.S1115S	JAK2_ENST00000539801.1_Silent_p.S1115S|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000544510.1_Silent_p.S966S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1115	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AACGCCCCTCCTTTAGGGATC	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											87.0	81.0	83.0					9																	5126737		2203	4300	6503	5116737	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3345C>T	9.37:g.5126737C>T			5116737	O14636|O75297	Silent	SNP	PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.S1115	ENST00000381652.3	37	c.3345	CCDS6457.1	9																																																																																			-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	protein_coding	OTTHUMT00000051609.1	C			5116737	+1	no_errors	NM_004972	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
OR52E8	390079	genome.wustl.edu	37	11	5878216	5878216	+	Silent	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:5878216T>A	ENST00000537935.1	-	1	748	c.717A>T	c.(715-717)cgA>cgT	p.R239R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTTGAGTCGAGCTTCCC	0.413																																																0			11											83.0	92.0	89.0					11																	5878216		2141	4296	6437	5834792	SO:0001819	synonymous_variant	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.717A>T	11.37:g.5878216T>A			5834792	B9EH38	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R239	ENST00000537935.1	37	c.717	CCDS31400.1	11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.413	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	protein_coding	OTTHUMT00000401145.1	T	NM_001005168		5834792	-1	no_errors	NM_001005168	genbank	human	provisional	54_36p	silent	SNP	0.000	A
HPX	3263	genome.wustl.edu	37	11	6461906	6461906	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:6461906C>G	ENST00000265983.3	-	2	238	c.138G>C	c.(136-138)gtG>gtC	p.V46V	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	46					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCTCACCAGTCACGTCTGGGT	0.433																																																0			11											136.0	134.0	135.0					11																	6461906		2201	4296	6497	6418482	SO:0001819	synonymous_variant	3263			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.138G>C	11.37:g.6461906C>G			6418482	B2R957	Silent	SNP	superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN	p.V46	ENST00000265983.3	37	c.138	CCDS7763.1	11																																																																																			-	NULL		0.433	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	protein_coding	OTTHUMT00000257256.1	C	NM_000613		6418482	-1	no_errors	NM_000613	genbank	human	provisional	54_36p	silent	SNP	0.002	G
TP53	7157	genome.wustl.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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"""	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	17											49.0	44.0	46.0					17																	7577142		2203	4300	6503	7517867	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg		7517867	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.G266R	ENST00000269305.4	37	c.796	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517867	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ADCY2	108	genome.wustl.edu	37	5	7695887	7695887	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:7695887G>T	ENST00000338316.4	+	6	981	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	ADCY2_ENST00000537121.1_Missense_Mutation_p.G118C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	298					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGACATCGTTGGCTTTACCCG	0.408																																																0			5											97.0	88.0	91.0					5																	7695887		2203	4300	6503	7748887	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.892G>T	5.37:g.7695887G>T	ENSP00000342952:p.Gly298Cys		7748887	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.G298C	ENST00000338316.4	37	c.892	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069270	0.76301	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.88741	-2.42;-2.42;-2.42	5.51	4.63	0.57726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	H	0.97829	4.085	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98340	1.0538	10	0.87932	D	0	.	15.9614	0.79933	0.0:0.0:0.8639:0.1361	.	118;298	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	298;149;87;118	ENSP00000342952:G298C;ENSP00000425069:G87C;ENSP00000444803:G118C	ENSP00000342952:G298C	G	+	1	0	ADCY2	7748887	1.000000	0.71417	0.261000	0.24466	0.668000	0.39293	9.382000	0.97209	1.427000	0.47276	0.655000	0.94253	GGC	-	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	G	NM_020546		7748887	+1	no_errors	NM_020546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MTRR	4552	genome.wustl.edu	37	5	7895940	7895940	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:7895940C>G	ENST00000264668.2	+	12	1762	c.1732C>G	c.(1732-1734)Ccg>Gcg	p.P578A	MTRR_ENST00000440940.2_Missense_Mutation_p.P551A	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	578					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGCATAGCCCCGTTTATTGG	0.408																																																0			5											112.0	111.0	111.0					5																	7895940		2203	4300	6503	7948940	SO:0001583	missense	4552			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1732C>G	5.37:g.7895940C>G	ENSP00000264668:p.Pro578Ala		7948940	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1	p.P578A	ENST00000264668.2	37	c.1732	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417779	0.62622	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	D;D	0.95377	-3.69;-3.69	5.51	5.51	0.81932	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99410	1.0930	10	0.87932	D	0	-32.4484	19.4315	0.94772	0.0:1.0:0.0:0.0	.	578	Q9UBK8	MTRR_HUMAN	A	578;551	ENSP00000264668:P578A;ENSP00000402510:P551A	ENSP00000264668:P578A	P	+	1	0	MTRR	7948940	1.000000	0.71417	0.955000	0.39395	0.196000	0.23810	6.582000	0.74049	2.600000	0.87896	0.655000	0.94253	CCG	-	superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1		0.408	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	protein_coding	OTTHUMT00000206931.1	C			7948940	+1	no_errors	NM_024010	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
PDE4A	5141	genome.wustl.edu	37	19	10568608	10568608	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:10568608C>G	ENST00000352831.6	+	8	1041	c.931C>G	c.(931-933)Cag>Gag	p.Q311E	PDE4A_ENST00000440014.2_Missense_Mutation_p.Q250E|PDE4A_ENST00000380702.2_Missense_Mutation_p.Q289E|PDE4A_ENST00000344979.3_Missense_Mutation_p.Q72E|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q285E|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q289E	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	311					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ACGAGAAAAACAGCAAGCGCC	0.542																																																0			19											79.0	89.0	85.0					19																	10568608		2203	4300	6503	10429608	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.931C>G	19.37:g.10568608C>G	ENSP00000270474:p.Gln311Glu		10429608	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.Q72E	ENST00000352831.6	37	c.214	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	c	10.99	1.508343	0.27036	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.65549	-0.15;-0.15;-0.16;-0.15;0.13	4.49	-0.593	0.11667	.	1.342580	0.05001	N	0.469038	T	0.69296	0.3095	L	0.42245	1.32	0.09310	N	1	P;P;B;B	0.52577	0.486;0.954;0.104;0.247	B;D;B;B	0.67900	0.205;0.954;0.061;0.108	T	0.57225	-0.7848	10	0.37606	T	0.19	.	7.4133	0.27029	0.4645:0.2646:0.2709:0.0	.	72;250;285;311	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	E	289;311;285;250;72	ENSP00000370078:Q289E;ENSP00000270474:Q311E;ENSP00000293683:Q285E;ENSP00000394754:Q250E;ENSP00000341007:Q72E	ENSP00000293683:Q285E	Q	+	1	0	PDE4A	10429608	0.003000	0.15002	0.001000	0.08648	0.848000	0.48234	0.419000	0.21247	-0.169000	0.10834	0.651000	0.88453	CAG	-	NULL		0.542	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	C			10429608	+1	no_errors	NM_006202	genbank	human	validated	54_36p	missense	SNP	0.947	G
GSPT1	2935	genome.wustl.edu	37	16	11991711	11991711	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:11991711A>C	ENST00000563468.1	-	1	34	c.8T>G	c.(7-9)cTt>cGt	p.L3R	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.L141R|GSPT1_ENST00000434724.2_Missense_Mutation_p.L141R|GSPT1_ENST00000420576.2_Missense_Mutation_p.L3R			P15170	ERF3A_HUMAN	G1 to S phase transition 1	3					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTTCTGAAAGTTCCATGCT	0.303																																																0			16											71.0	61.0	64.0					16																	11991711		1802	4077	5879	11899212	SO:0001583	missense	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.8T>G	16.37:g.11991711A>C	ENSP00000454351:p.Leu3Arg		11899212	J3KQG6|Q96GF2	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C	p.L3R	ENST00000563468.1	37	c.8	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281543	0.40394	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.45668	1.4;1.42;0.89	5.22	5.22	0.72569	.	0.749151	0.11901	U	0.518645	T	0.33962	0.0881	L	0.34521	1.04	0.34891	D	0.745572	B;B;B	0.31910	0.346;0.346;0.07	B;B;B	0.24541	0.054;0.037;0.039	T	0.46638	-0.9177	10	0.62326	D	0.03	-2.5888	13.9432	0.64069	1.0:0.0:0.0:0.0	.	141;138;3	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	R	141;141;3	ENSP00000398131:L141R;ENSP00000408399:L141R;ENSP00000399539:L3R	ENSP00000399539:L3R	L	-	2	0	GSPT1	11899212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.748000	0.74877	1.970000	0.57323	0.533000	0.62120	CTT	-	NULL		0.303	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	protein_coding	OTTHUMT00000421513.1	A	NM_002094		11899212	-1	no_errors	NM_002094	genbank	human	validated	54_36p	missense	SNP	1.000	C
SCIN	85477	genome.wustl.edu	37	7	12691502	12691502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:12691502G>T	ENST00000297029.5	+	15	2097	c.1996G>T	c.(1996-1998)Gag>Tag	p.E666*	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000519209.1_Nonsense_Mutation_p.E419*|SCIN_ENST00000445618.2_Nonsense_Mutation_p.E419*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	666	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TAATGAAGTTGAGAAAAAAGA	0.398																																																0			7											139.0	128.0	132.0					7																	12691502		1850	4097	5947	12658027	SO:0001587	stop_gained	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1996G>T	7.37:g.12691502G>T	ENSP00000297029:p.Glu666*		12658027	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins	p.E419*	ENST00000297029.5	37	c.1255	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.870270	0.98534	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.0567	19.9254	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	666;419;419	.	ENSP00000297029:E666X	E	+	1	0	SCIN	12658027	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.830000	0.92063	2.710000	0.92621	0.655000	0.94253	GAG	-	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin		0.398	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	protein_coding	OTTHUMT00000326041.1	G	NM_033128		12658027	+1	no_errors	NM_033128	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13617123	13617123	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:13617123T>C	ENST00000040738.5	-	3	507	c.372A>G	c.(370-372)tcA>tcG	p.S124S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	124						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCAACATTCCTGATCTGAAAC	0.343																																																0			4											80.0	80.0	80.0					4																	13617123		2203	4300	6503	13226221	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.372A>G	4.37:g.13617123T>C			13226221	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook	p.S124	ENST00000040738.5	37	c.372	CCDS3411.2	4																																																																																			-	superfamily_SSF81995		0.343	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13226221	-1	no_errors	NM_148894	genbank	human	validated	54_36p	silent	SNP	1.000	C
CLEC17A	388512	genome.wustl.edu	37	19	14705349	14705349	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:14705349C>T	ENST00000417570.1	+	5	336	c.298C>T	c.(298-300)Cct>Tct	p.P100S	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P83S|CLEC17A_ENST00000547437.1_Missense_Mutation_p.P100S	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	100						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TCCACCAAGACCTCCAAGGGC	0.592																																																0			19											39.0	39.0	39.0					19																	14705349		1948	4143	6091	14566349	SO:0001583	missense	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.298C>T	19.37:g.14705349C>T	ENSP00000393719:p.Pro100Ser		14566349	A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	superfamily_C-type lectin-like,HMMPfam_Lectin_C	p.P83S	ENST00000417570.1	37	c.247	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	c	15.53	2.861185	0.51482	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62364	0.03;1.93;0.03	3.18	3.18	0.36537	.	.	.	.	.	T	0.66616	0.2807	L	0.27053	0.805	0.18873	N	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.992;0.998	T	0.55490	-0.8133	9	0.66056	D	0.02	-3.2377	10.5949	0.45331	0.0:1.0:0.0:0.0	.	100;100;100;100	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	S	100;83;100	ENSP00000450065:P100S;ENSP00000380581:P83S;ENSP00000393719:P100S	ENSP00000341620:P100S	P	+	1	0	CLEC17A	14566349	0.471000	0.25862	0.240000	0.24138	0.007000	0.05969	0.933000	0.28897	1.727000	0.51537	0.450000	0.29827	CCT	-	NULL		0.592	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	protein_coding	OTTHUMT00000403400.1	C	NM_207390		14566349	+1	no_errors	NM_207390	genbank	human	validated	54_36p	missense	SNP	0.516	T
PLVAP	83483	genome.wustl.edu	37	19	17476441	17476441	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:17476441A>G	ENST00000252590.4	-	3	894	c.833T>C	c.(832-834)cTc>cCc	p.L278P	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	278					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGCTCATGAGGCTGGGCAT	0.632																																																0			19											41.0	42.0	42.0					19																	17476441		2203	4299	6502	17337441	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.833T>C	19.37:g.17476441A>G	ENSP00000252590:p.Leu278Pro		17337441	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	HMMPfam_PV-1	p.L278P	ENST00000252590.4	37	c.833	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347986	0.41599	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.17	4.15	0.48705	.	1.113020	0.06579	N	0.749912	T	0.49677	0.1571	N	0.19112	0.55	0.49483	D	0.999793	D	0.61080	0.989	P	0.55055	0.767	T	0.39440	-0.9614	9	0.30854	T	0.27	-13.2541	6.8669	0.24098	0.8975:0.0:0.1025:0.0	.	278	Q9BX97	PLVAP_HUMAN	P	278	.	ENSP00000252590:L278P	L	-	2	0	PLVAP	17337441	0.376000	0.25098	0.856000	0.33681	0.228000	0.25075	1.936000	0.40183	1.962000	0.57031	0.374000	0.22700	CTC	-	HMMPfam_PV-1		0.632	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	protein_coding	OTTHUMT00000463655.1	A	NM_031310		17337441	-1	no_errors	NM_031310	genbank	human	provisional	54_36p	missense	SNP	0.107	G
STAM	8027	genome.wustl.edu	37	10	17746994	17746994	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:17746994C>T	ENST00000377524.3	+	11	1241	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	STAM_ENST00000540523.1_Silent_p.L231L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	342					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGACCTCTCATTGATGAAA	0.353																																																0			10											149.0	140.0	143.0					10																	17746994		2203	4300	6503	17787000	SO:0001819	synonymous_variant	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1026C>T	10.37:g.17746994C>T			17787000	B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,HMMPfam_UIM,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.L342	ENST00000377524.3	37	c.1026	CCDS7122.1	10																																																																																			-	NULL		0.353	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	protein_coding	OTTHUMT00000047039.1	C	NM_003473		17787000	+1	no_errors	NM_003473	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
PHF2P2	100873793	genome.wustl.edu	37	13	19622223	19622223	+	IGR	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr13:19622223C>G								RP11-301J16.7 (19382 upstream) : RNA5SP24 (40403 downstream)																							GTTTCAACCTCTTTTCAACTT	0.532																																																0			13																																								18520223	SO:0001628	intergenic_variant	266695																															13.37:g.19622223C>G			18520223		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.532					DKFZp686A1627			C			18520223	-1	pseudogene	NR_002801	genbank	human	provisional	54_36p	rna	SNP	0.972	G
MRGPRX1	259249	genome.wustl.edu	37	11	18955883	18955883	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:18955883G>T	ENST00000302797.3	-	1	673	c.449C>A	c.(448-450)tCc>tAc	p.S150Y	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	150					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCGCAGCAGGGACAGGGCCCA	0.602																																																0			11											96.0	80.0	85.0					11																	18955883		2194	4286	6480	18912459	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.449C>A	11.37:g.18955883G>T	ENSP00000305766:p.Ser150Tyr		18912459	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S150Y	ENST00000302797.3	37	c.449	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356186	0.41700	.	.	ENSG00000170255	ENST00000302797	T	0.47869	0.83	2.28	0.13	0.14746	GPCR, rhodopsin-like superfamily (1);	0.387872	0.25117	N	0.033012	T	0.65428	0.2690	M	0.88181	2.935	0.21020	N	0.999809	D	0.89917	1.0	D	0.76071	0.987	T	0.54781	-0.8242	10	0.72032	D	0.01	.	4.7071	0.12855	0.1442:0.4358:0.4199:0.0	.	150	Q96LB2	MRGX1_HUMAN	Y	150	ENSP00000305766:S150Y	ENSP00000305766:S150Y	S	-	2	0	MRGPRX1	18912459	0.001000	0.12720	0.134000	0.22075	0.116000	0.19942	0.884000	0.28214	0.038000	0.15604	0.491000	0.48974	TCC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.602	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	protein_coding	OTTHUMT00000369913.1	G	NM_147199		18912459	-1	no_errors	NM_147199	genbank	human	provisional	54_36p	missense	SNP	0.813	T
FERD3L	222894	genome.wustl.edu	37	7	19184740	19184740	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:19184740G>A	ENST00000275461.3	-	1	304	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	82					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAcctcttccgcgctcctctt	0.612																																																0			7											71.0	54.0	60.0					7																	19184740		2203	4300	6503	19151265	SO:0001819	synonymous_variant	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.246C>T	7.37:g.19184740G>A			19151265	Q495K0	Silent	SNP	superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH	p.R82	ENST00000275461.3	37	c.246	CCDS5368.1	7																																																																																			-	NULL		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	protein_coding	OTTHUMT00000207627.1	G			19151265	-1	no_errors	NM_152898	genbank	human	validated	54_36p	silent	SNP	0.001	A
MAPK1	5594	genome.wustl.edu	37	22	22160160	22160160	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:22160160G>C	ENST00000215832.6	-	3	659	c.471C>G	c.(469-471)ctC>ctG	p.L157L	MAPK1_ENST00000398822.3_Silent_p.L157L|MAPK1_ENST00000544786.1_Silent_p.L157L	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L157L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGGTGGTGTTGAGCAGCAGGT	0.393																																																1	Substitution - coding silent(1)	lung(1)	22											162.0	146.0	151.0					22																	22160160		2203	4300	6503	20490160	SO:0001819	synonymous_variant	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.471C>G	22.37:g.22160160G>C			20490160	A8CZ64	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST	p.L157	ENST00000215832.6	37	c.471	CCDS13795.1	22																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST		0.393	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	protein_coding	OTTHUMT00000075396.2	G			20490160	-1	no_errors	NM_002745	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
ZNF626	199777	genome.wustl.edu	37	19	20808409	20808409	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:20808409T>C	ENST00000601440.1	-	4	420	c.274A>G	c.(274-276)Aaa>Gaa	p.K92E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGAATCTTTCATGCTCTGC	0.333																																																0			19											53.0	59.0	57.0					19																	20808409		2166	4277	6443	20600249	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.274A>G	19.37:g.20808409T>C	ENSP00000469958:p.Lys92Glu		20600249	Q8N8T4|Q96QM1	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.K92E	ENST00000601440.1	37	c.274	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	5.754	0.323611	0.10900	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	T	0.05025	3.51	1.08	-0.758	0.11049	.	.	.	.	.	T	0.11067	0.0270	L	0.55481	1.735	0.09310	N	1	D	0.53885	0.963	P	0.58454	0.839	T	0.32052	-0.9921	9	0.21540	T	0.41	.	3.9794	0.09489	0.3111:0.0:0.0:0.6889	.	92	Q68DY1	ZN626_HUMAN	E	92;16;92	ENSP00000445201:K92E	ENSP00000445201:K92E	K	-	1	0	ZNF626	20600249	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-1.076000	0.03420	0.424000	0.26061	0.240000	0.17902	AAA	-	NULL		0.333	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	protein_coding	OTTHUMT00000447845.2	T	NM_145297		20600249	-1	no_errors	NM_001076675	genbank	human	validated	54_36p	missense	SNP	0.005	C
NPIPB5	100132247	genome.wustl.edu	37	16	22492396	22492396	+	3'UTR	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:22492396G>C	ENST00000415654.1	+	0	263				SMG1P1_ENST00000431681.1_RNA|snoU13_ENST00000459269.1_RNA	NR_002555.2		A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5							integral component of membrane (GO:0016021)											CGTGGAACTTGTATTCGACAA	0.378																																																0			16																																								22399897	SO:0001624	3_prime_UTR_variant	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000415654.1:c.*260G>C	16.37:g.22492396G>C			22399897	B4DK13	Missense_Mutation	SNP	NULL	p.C241S	ENST00000415654.1	37	c.722		16																																																																																			-	NULL		0.378	NPIPB5-016	KNOWN	mRNA_end_NF|basic	processed_transcript	ENSG00000180747	protein_coding	OTTHUMT00000402477.1	G	NM_001135865		22399897	+1	no_start_codon	ENST00000327173	ensembl	human	known	54_36p	missense	SNP	1.000	C
NOS2	4843	genome.wustl.edu	37	17	26092717	26092717	+	Missense_Mutation	SNP	A	A	G	rs199866556		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:26092717A>G	ENST00000313735.6	-	20	2505	c.2272T>C	c.(2272-2274)Tcc>Ccc	p.S758P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	758	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCCTCACAGGAGAGTTCCACC	0.607																																																0			17											29.0	31.0	30.0					17																	26092717		2203	4300	6503	23116844	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2272T>C	17.37:g.26092717A>G	ENSP00000327251:p.Ser758Pro		23116844	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1	p.S758P	ENST00000313735.6	37	c.2272	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534009	0.45073	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.66995	-0.24	5.19	4.09	0.47781	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.415854	0.25436	N	0.030687	T	0.77184	0.4093	M	0.90019	3.08	0.25657	N	0.986047	P	0.41978	0.767	P	0.51266	0.664	T	0.70475	-0.4861	10	0.52906	T	0.07	.	6.4612	0.21958	0.7767:0.0:0.0789:0.1444	.	758	P35228	NOS2_HUMAN	P	758;719	ENSP00000327251:S758P	ENSP00000327251:S758P	S	-	1	0	NOS2	23116844	0.999000	0.42202	0.677000	0.29947	0.323000	0.28346	1.458000	0.35223	0.790000	0.33803	0.374000	0.22700	TCC	-	superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1		0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	protein_coding	OTTHUMT00000255597.1	A	NM_000625		23116844	-1	no_errors	NM_000625	genbank	human	reviewed	54_36p	missense	SNP	0.874	G
LUZP1	7798	genome.wustl.edu	37	1	23418181	23418181	+	Silent	SNP	C	C	T	rs556348151		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:23418181C>T	ENST00000302291.4	-	4	3375	c.2574G>A	c.(2572-2574)gcG>gcA	p.A858A	LUZP1_ENST00000418342.1_Silent_p.A858A|LUZP1_ENST00000314174.5_Silent_p.A858A|LUZP1_ENST00000374623.3_Silent_p.A858A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	858					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCATTCTCTCCGCTTCTGCAA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19752	0.001		0.0	False		,,,				2504	0.0															0			1											102.0	99.0	100.0					1																	23418181		2203	4300	6503	23290768	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2574G>A	1.37:g.23418181C>T			23290768	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	HMMPfam_CortBP2	p.A858	ENST00000302291.4	37	c.2574	CCDS30628.1	1																																																																																			-	NULL		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	C	NM_033631		23290768	-1	no_errors	NM_033631	genbank	human	reviewed	54_36p	silent	SNP	0.143	T
COG7	91949	genome.wustl.edu	37	16	23436107	23436107	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:23436107G>A	ENST00000307149.5	-	7	1157	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	324					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGCCCTTGGCGAAGTGGGCGG	0.612																																																0			16											100.0	107.0	105.0					16																	23436107		2197	4300	6497	23343608	SO:0001819	synonymous_variant	91949			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.972C>T	16.37:g.23436107G>A			23343608	Q6UWU7	Silent	SNP	HMMPfam_COG7	p.F324	ENST00000307149.5	37	c.972	CCDS10610.1	16																																																																																			-	HMMPfam_COG7		0.612	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	protein_coding	OTTHUMT00000211625.1	G			23343608	-1	no_errors	NM_153603	genbank	human	validated	54_36p	silent	SNP	0.984	A
PARP4	143	genome.wustl.edu	37	13	25026706	25026706	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr13:25026706G>C	ENST00000381989.3	-	24	2957	c.2852C>G	c.(2851-2853)aCa>aGa	p.T951R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	951	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCAGAAGTCTGTGTTCCCCAT	0.488																																																0			13											137.0	134.0	135.0					13																	25026706		2203	4300	6503	23924706	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2852C>G	13.37:g.25026706G>C	ENSP00000371419:p.Thr951Arg		23924706	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT,superfamily_PARP_reg,HMMPfam_PARP,superfamily_SSF56399,HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA	p.T951R	ENST00000381989.3	37	c.2852	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349129	0.82132	.	.	ENSG00000102699	ENST00000381989	T	0.38887	1.11	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.88906	2.99	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.76002	-0.3118	10	0.87932	D	0	-19.6041	16.5315	0.84361	0.0:0.0:1.0:0.0	.	951	Q9UKK3	PARP4_HUMAN	R	951	ENSP00000371419:T951R	ENSP00000371419:T951R	T	-	2	0	PARP4	23924706	1.000000	0.71417	0.993000	0.49108	0.833000	0.47200	7.379000	0.79691	2.778000	0.95560	0.638000	0.83543	ACA	-	superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA		0.488	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	G	NM_006437		23924706	-1	no_errors	NM_006437	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SUPT6H	6830	genome.wustl.edu	37	17	27008981	27008981	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:27008981G>C	ENST00000314616.6	+	13	1863	c.1580G>C	c.(1579-1581)tGc>tCc	p.C527S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.C527S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	527	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TACACCATCTGCCAGAGTGCT	0.527																																																0			17											52.0	40.0	44.0					17																	27008981		2203	4300	6503	24033108	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1580G>C	17.37:g.27008981G>C	ENSP00000319104:p.Cys527Ser		24033108	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252	p.C527S	ENST00000314616.6	37	c.1580	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.060536	0.93846	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.41758	0.99;0.99	5.67	5.67	0.87782	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.86502	2.82	0.80722	D	1	P	0.46621	0.881	P	0.45138	0.471	T	0.65067	-0.6258	10	0.49607	T	0.09	-15.0614	19.7607	0.96316	0.0:0.0:1.0:0.0	.	527	Q7KZ85	SPT6H_HUMAN	S	527	ENSP00000319104:C527S;ENSP00000338143:C527S	ENSP00000319104:C527S	C	+	2	0	SUPT6H	24033108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.359000	0.97115	2.686000	0.91538	0.561000	0.74099	TGC	-	NULL		0.527	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	G	NM_003170		24033108	+1	no_errors	NM_003170	genbank	human	validated	54_36p	missense	SNP	1.000	C
PFN4	375189	genome.wustl.edu	37	2	24345297	24345297	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:24345297C>T	ENST00000313213.4	-	2	480	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	RP11-507M3.1_ENST00000584973.1_5'Flank|PFN4_ENST00000465360.1_Intron|FAM228B_ENST00000407625.1_5'Flank|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	37					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATTGAAACCTGGTGATGCT	0.378																																																0			2											127.0	128.0	128.0					2																	24345297		2203	4300	6503	24198801	SO:0001583	missense	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.109G>A	2.37:g.24345297C>T	ENSP00000322170:p.Gly37Ser		24198801	Q53TL9	Missense_Mutation	SNP	superfamily_Profilin (actin-binding protein),HMMPfam_Profilin,HMMSmart_SM00392	p.G37S	ENST00000313213.4	37	c.109	CCDS1709.1	2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709695	0.68730	.	.	ENSG00000176732	ENST00000313213	D	0.86865	-2.18	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000020	D	0.91260	0.7245	M	0.66939	2.045	0.45607	D	0.99854	D	0.69078	0.997	D	0.63113	0.911	D	0.90661	0.4590	10	0.42905	T	0.14	0.0233	14.2897	0.66268	0.0:1.0:0.0:0.0	.	37	Q8NHR9	PROF4_HUMAN	S	37	ENSP00000322170:G37S	ENSP00000322170:G37S	G	-	1	0	PFN4	24198801	0.997000	0.39634	1.000000	0.80357	0.511000	0.34104	2.814000	0.48010	2.519000	0.84933	0.555000	0.69702	GGT	-	superfamily_Profilin (actin-binding protein),HMMPfam_Profilin,HMMSmart_SM00392		0.378	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN4	protein_coding	OTTHUMT00000207617.2	C	NM_199346		24198801	-1	no_errors	NM_199346	genbank	human	provisional	54_36p	missense	SNP	0.995	T
POLA1	5422	genome.wustl.edu	37	X	24830877	24830877	+	Missense_Mutation	SNP	G	G	T	rs182314888		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:24830877G>T	ENST00000379059.3	+	29	3190	c.3175G>T	c.(3175-3177)Gtt>Ttt	p.V1059F	POLA1_ENST00000379068.3_Missense_Mutation_p.V1065F	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1059					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CGCTGCTCTGGTTGTTGAGCC	0.398																																																0			X											107.0	102.0	104.0					X																	24830877		2203	4300	6503	24740798	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3175G>T	X.37:g.24830877G>T	ENSP00000368349:p.Val1059Phe		24740798	Q86UQ7	Missense_Mutation	SNP	superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_SSF56672,HMMPfam_DNA_pol_B,PatternScan_DNA_POLYMERASE_B,HMMPfam_zf-DNA_Pol,superfamily_SSF90234	p.V1059F	ENST00000379059.3	37	c.3175	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913245	0.52439	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18016	2.24;2.24	4.81	3.95	0.45737	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.353337	0.31335	N	0.007834	T	0.12561	0.0305	L	0.34521	1.04	0.39059	D	0.960487	P	0.36144	0.539	B	0.40410	0.328	T	0.13872	-1.0493	10	0.11182	T	0.66	-10.6148	7.2044	0.25899	0.2922:0.0:0.7077:0.0	.	1059	P09884	DPOLA_HUMAN	F	1065;1059	ENSP00000368358:V1065F;ENSP00000368349:V1059F	ENSP00000368349:V1059F	V	+	1	0	POLA1	24740798	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.570000	0.45981	1.037000	0.40024	0.513000	0.50165	GTT	-	superfamily_SSF56672,HMMPfam_DNA_pol_B		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	protein_coding	OTTHUMT00000056111.1	G	NM_016937		24740798	+1	no_errors	NM_016937	genbank	human	validated	54_36p	missense	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T	rs371203903		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000403121.1_Silent_p.D149D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577																																																2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	22						C	,,,,,	0,4406		0,0,2203	49.0	43.0	45.0		1128,1128,1128,1128,1128,1128	-10.5	0.0	22		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	25023012	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1128C>T	22.37:g.26693012C>T			25023012	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB	p.D376	ENST00000248933.6	37	c.1128	CCDS13833.1	22																																																																																			-	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042		0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C			25023012	+1	no_errors	NM_021115	genbank	human	validated	54_36p	silent	SNP	0.701	T
HPS4	89781	genome.wustl.edu	37	22	26860099	26860099	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:26860099T>C	ENST00000398145.2	-	11	2113	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	HPS4_ENST00000398141.1_Silent_p.E512E|HPS4_ENST00000402105.3_Silent_p.E494E|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Silent_p.E499E	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	499					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGCGTGGCTTTCACAGACCC	0.577									Hermansky-Pudlak syndrome																																							0			22											142.0	136.0	138.0					22																	26860099		2203	4300	6503	25190099	SO:0001819	synonymous_variant	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1497A>G	22.37:g.26860099T>C			25190099	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NULL	p.E499	ENST00000398145.2	37	c.1497	CCDS13835.1	22																																																																																			-	NULL		0.577	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	protein_coding	OTTHUMT00000320778.1	T	NM_022081		25190099	-1	no_errors	NM_022081	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
NGLY1	55768	genome.wustl.edu	37	3	25777640	25777640	+	Splice_Site	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:25777640T>A	ENST00000280700.5	-	7	1164	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000417874.2_Splice_Site_p.D293V|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Splice_Site_p.D335V|NGLY1_ENST00000467224.1_5'Flank	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	335					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CCAGACATGGTCTACTCAAGT	0.393																																																0			3											44.0	41.0	42.0					3																	25777640		2203	4300	6503	25752644	SO:0001630	splice_region_variant	55768			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1004-1A>T	3.37:g.25777640T>A			25752644	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	HMMPfam_PUB,HMMSmart_SM00580,HMMPfam_Transglut_core,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMSmart_SM00613,HMMPfam_DUF750	p.D335V	ENST00000280700.5	37	c.1004	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637812	0.87760	.	.	ENSG00000151092	ENST00000280700;ENST00000396649;ENST00000417874	T;T;T	0.22134	1.97;1.97;1.97	5.66	5.66	0.87406	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	H	0.95679	3.705	0.80722	D	1	P;D;P	0.63880	0.902;0.993;0.948	D;D;D	0.73708	0.97;0.981;0.945	T	0.73186	-0.4062	10	0.87932	D	0	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	293;335;335	B4DJE9;Q96IV0-3;Q96IV0	.;.;NGLY1_HUMAN	V	335;335;293	ENSP00000280700:D335V;ENSP00000379886:D335V;ENSP00000389888:D293V	ENSP00000280700:D335V	D	-	2	0	NGLY1	25752644	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.986000	0.88173	2.285000	0.76669	0.533000	0.62120	GAC	-	HMMPfam_Transglut_core,superfamily_Cysteine proteinases,HMMSmart_SM00460		0.393	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	protein_coding	OTTHUMT00000340832.2	T		Missense_Mutation	25752644	-1	no_errors	NM_018297	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28508281	28508281	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:28508281C>G	ENST00000261609.7	-	15	2013	c.1905G>C	c.(1903-1905)ggG>ggC	p.G635G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCCCAATTTCCCATAGTCAC	0.403																																																0			15											134.0	117.0	123.0					15																	28508281		2203	4300	6503	26181876	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1905G>C	15.37:g.28508281C>G			26181876		Silent	SNP	superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.G635	ENST00000261609.7	37	c.1905	CCDS10021.1	15																																																																																			-	superfamily_RCC1/BLIP-II,HMMPfam_RCC1		0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667		26181876	-1	no_errors	NM_004667	genbank	human	validated	54_36p	silent	SNP	0.968	G
CNKSR1	10256	genome.wustl.edu	37	1	26515325	26515325	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:26515325C>T	ENST00000374253.5	+	20	1813	c.1774C>T	c.(1774-1776)Cta>Tta	p.L592L	CNKSR1_ENST00000531191.1_Silent_p.L327L|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Silent_p.L585L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	592					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCCCTCCTAGGCCAGCC	0.642																																					NSCLC(180;1396 2109 28270 30756 34275)											0			1											45.0	55.0	52.0					1																	26515325		2203	4299	6502	26387912	SO:0001819	synonymous_variant	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1774C>T	1.37:g.26515325C>T			26387912	B1AMW9|O95381	Silent	SNP	superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2,HMMPfam_CRIC_ras_sig,superfamily_PDZ domain-like,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.L585	ENST00000374253.5	37	c.1753		1																																																																																			-	NULL		0.642	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	protein_coding	OTTHUMT00000089943.2	C	NM_006314		26387912	+1	no_errors	NM_006314	genbank	human	reviewed	54_36p	silent	SNP	0.955	T
NF1	4763	genome.wustl.edu	37	17	29653190	29653190	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:29653190A>C	ENST00000358273.4	+	37	5571	c.5188A>C	c.(5188-5190)Acc>Ccc	p.T1730P	NF1_ENST00000356175.3_Missense_Mutation_p.T1709P|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1730	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCTGCTGCCACCTTGGCTTT	0.448			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											83.0	78.0	80.0					17																	29653190		2203	4300	6503	26677316	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5188A>C	17.37:g.29653190A>C	ENSP00000351015:p.Thr1730Pro		26677316	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.T1730P	ENST00000358273.4	37	c.5188	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618010	0.87359	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.67171	-0.25;-0.25;-0.25	5.74	5.74	0.90152	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.995;0.997;1.0	D;D;D	0.97110	0.982;0.991;1.0	D	0.85526	0.1206	10	0.72032	D	0.01	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	759;1709;1730	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	P	1730;1709;1375	ENSP00000351015:T1730P;ENSP00000348498:T1709P;ENSP00000389907:T1375P	ENSP00000348498:T1709P	T	+	1	0	NF1	26677316	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.923000	0.92808	2.202000	0.70862	0.477000	0.44152	ACC	-	HMMSmart_SM00516		0.448	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	A	NM_000267		26677316	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ITPR2	3709	genome.wustl.edu	37	12	26812160	26812160	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:26812160G>C	ENST00000381340.3	-	16	2188	c.1772C>G	c.(1771-1773)gCa>gGa	p.A591G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	591					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTATCTTCTGCCAAAATATC	0.378																																																0			12											186.0	159.0	167.0					12																	26812160		1853	4104	5957	26703427	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1772C>G	12.37:g.26812160G>C	ENSP00000370744:p.Ala591Gly		26703427	O94773	Missense_Mutation	SNP	HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans	p.A591G	ENST00000381340.3	37	c.1772	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976030	0.92982	.	.	ENSG00000123104	ENST00000381340	D	0.91068	-2.78	4.69	4.69	0.59074	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.92833	3.35	0.80722	D	1	B	0.33073	0.396	P	0.46419	0.516	D	0.95398	0.8487	10	0.49607	T	0.09	.	17.84	0.88712	0.0:0.0:1.0:0.0	.	591	Q14571	ITPR2_HUMAN	G	591	ENSP00000370744:A591G	ENSP00000370744:A591G	A	-	2	0	ITPR2	26703427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.640000	0.98453	2.433000	0.82419	0.585000	0.79938	GCA	-	superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR		0.378	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	G	NM_002223		26703427	-1	no_errors	NM_002223	genbank	human	validated	54_36p	missense	SNP	1.000	C
FAM46B	115572	genome.wustl.edu	37	1	27333172	27333172	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:27333172A>G	ENST00000289166.5	-	2	706	c.541T>C	c.(541-543)Tgc>Cgc	p.C181R		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	181										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GAGTCTGTGCACACTTTCACC	0.577																																																0			1											137.0	133.0	134.0					1																	27333172		2203	4300	6503	27205759	SO:0001583	missense	115572			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.541T>C	1.37:g.27333172A>G	ENSP00000289166:p.Cys181Arg		27205759		Missense_Mutation	SNP	HMMPfam_DUF1693	p.C180R	ENST00000289166.5	37	c.538	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784021	0.70222	.	.	ENSG00000158246	ENST00000289166	T	0.24151	1.87	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53634	-0.8411	10	0.29301	T	0.29	-33.2586	15.2153	0.73261	1.0:0.0:0.0:0.0	.	181	Q96A09	FA46B_HUMAN	R	181	ENSP00000289166:C181R	ENSP00000289166:C181R	C	-	1	0	FAM46B	27205759	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.985000	0.70556	2.178000	0.69098	0.459000	0.35465	TGC	-	HMMPfam_DUF1693		0.577	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	protein_coding	OTTHUMT00000012347.2	A	NM_052943		27205759	-1	no_errors	NM_052943	genbank	human	validated	54_36p	missense	SNP	1.000	G
HIST1H2BJ	8970	genome.wustl.edu	37	6	27100197	27100197	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:27100197G>C	ENST00000607124.1	-	1	332	c.333C>G	c.(331-333)gcC>gcG	p.A111A	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Silent_p.A111A|HIST1H2BJ_ENST00000541790.1_Silent_p.A111A			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	111					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCTCGGACACGGCGTGCTTGG	0.587																																																0			6											81.0	82.0	82.0					6																	27100197		2203	4300	6503	27208176	SO:0001819	synonymous_variant	8970			X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.333C>G	6.37:g.27100197G>C			27208176	B2R4J4|O60816	Silent	SNP	superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.A111	ENST00000607124.1	37	c.333	CCDS4618.1	6																																																																																			-	superfamily_Histone-fold,HMMSmart_SM00427,PatternScan_HISTONE_H2B		0.587	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BJ	protein_coding	OTTHUMT00000040138.2	G	NM_021058		27208176	-1	no_errors	NM_021058	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
NUGGC	389643	genome.wustl.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	C	T	rs376263360	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:27880848C>T	ENST00000413272.2	-	19	2519	c.2377G>A	c.(2377-2379)Ggg>Agg	p.G793R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G793R	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	793					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGTGATGTCCCGGGGGGGCCA	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0															0			8						C	ARG/GLY	1,3761		0,1,1880	32.0	34.0	34.0		2377	-0.7	0.0	8		34	0,8222		0,0,4111	no	missense	C8orf80	NM_001010906.1	125	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign	793/797	27880848	1,11983	1881	4111	5992	27936767	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2377G>A	8.37:g.27880848C>T	ENSP00000408697:p.Gly793Arg		27936767	Q6ZP73	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G793R	ENST00000413272.2	37	c.2377	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.755191	0.03019	2.66E-4	0.0	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13420	2.59;2.6	4.83	-0.721	0.11189	.	1.636260	0.03056	N	0.155187	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29701	-1.0003	10	0.08179	T	0.78	1.12	5.1336	0.14922	0.0:0.3385:0.1991:0.4624	.	793	Q68CJ6	SLIP_HUMAN	R	793	ENSP00000408697:G793R;ENSP00000345031:G793R	ENSP00000345031:G793R	G	-	1	0	C8orf80	27936767	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.116000	0.03286	0.049000	0.15920	-0.423000	0.05987	GGG	-	NULL		0.527	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf80	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27936767	-1	no_errors	NM_001010906	genbank	human	predicted	54_36p	missense	SNP	0.000	T
STX12	23673	genome.wustl.edu	37	1	28148833	28148833	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:28148833C>G	ENST00000373943.4	+	9	949	c.824C>G	c.(823-825)aCg>aGg	p.T275R	RNU6-1245P_ENST00000411130.1_RNA|RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTATAAAACGAAGTGATTG	0.418																																					Ovarian(5;5 342 2097 9488 34083)											0			1											145.0	137.0	140.0					1																	28148833		2203	4300	6503	28021420	SO:0001583	missense	23673			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.824C>G	1.37:g.28148833C>G	ENSP00000363054:p.Thr275Arg		28021420	B1AJQ7|O95564	Missense_Mutation	SNP	HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN	p.T275R	ENST00000373943.4	37	c.824	CCDS310.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536549	0.45176	.	.	ENSG00000117758	ENST00000373943	T	0.32753	1.44	5.09	3.97	0.46021	.	1.004430	0.08010	N	0.990241	T	0.15955	0.0384	N	0.08118	0	0.22581	N	0.998968	B	0.18166	0.026	B	0.16289	0.015	T	0.33007	-0.9885	10	0.15952	T	0.53	-11.2491	7.8451	0.29421	0.0:0.1009:0.0:0.8991	.	275	Q86Y82	STX12_HUMAN	R	275	ENSP00000363054:T275R	ENSP00000363054:T275R	T	+	2	0	STX12	28021420	0.993000	0.37304	0.976000	0.42696	0.647000	0.38526	1.653000	0.37323	0.781000	0.33589	0.557000	0.71058	ACG	-	NULL		0.418	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX12	protein_coding	OTTHUMT00000010519.1	C	NM_177424		28021420	+1	no_errors	NM_177424	genbank	human	validated	54_36p	missense	SNP	0.979	G
ALK	238	genome.wustl.edu	37	2	29445209	29445209	+	Splice_Site	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:29445209C>T	ENST00000389048.3	-	22	4422		c.e22+1		ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase						activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGTGGCTTTACCTGATGATCA	0.547			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											85.0	93.0	90.0					2																	29445209		2203	4300	6503	29298713	SO:0001630	splice_region_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3515+1G>A	2.37:g.29445209C>T			29298713	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Splice_Site	SNP	-	e22+1	ENST00000389048.3	37	c.3515+1	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415475	0.83449	.	.	ENSG00000171094	ENST00000389048;ENST00000453137	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALK	29298713	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.810000	0.86072	2.532000	0.85374	0.555000	0.69702	.	-	-		0.547	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	C	NM_004304	Intron	29298713	-1	no_errors	NM_004304	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
GAS2L2	246176	genome.wustl.edu	37	17	34072743	34072743	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:34072743G>T	ENST00000254466.6	-	6	1800	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	GAS2L2_ENST00000587565.1_Silent_p.P575P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	591					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCGCCCAAGGGCAGAGGTG	0.602																																																0			17											82.0	80.0	81.0					17																	34072743		2203	4300	6503	31096856	SO:0001819	synonymous_variant	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1773C>A	17.37:g.34072743G>T			31096856	Q8NHY4	Silent	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_GAS2,HMMSmart_SM00243	p.P591	ENST00000254466.6	37	c.1773	CCDS11298.1	17																																																																																			-	NULL		0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	protein_coding	OTTHUMT00000256497.1	G	NM_139285		31096856	-1	no_errors	NM_139285	genbank	human	validated	54_36p	silent	SNP	0.000	T
SNTA1	6640	genome.wustl.edu	37	20	32026806	32026806	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:32026806G>C	ENST00000217381.2	-	2	608	c.337C>G	c.(337-339)Ctc>Gtc	p.L113V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	113	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTGGAAATGAGAATAGGCATC	0.507																																																0			20											108.0	106.0	107.0					20																	32026806		2203	4300	6503	31490467	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.337C>G	20.37:g.32026806G>C	ENSP00000217381:p.Leu113Val		31490467	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMPfam_PH	p.L113V	ENST00000217381.2	37	c.337	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165520	0.57476	.	.	ENSG00000101400	ENST00000217381	T	0.51071	0.72	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.53045	0.1772	N	0.25485	0.75	0.80722	D	1	P;B	0.52463	0.953;0.028	D;P	0.77004	0.989;0.577	T	0.43426	-0.9392	10	0.26408	T	0.33	-7.7841	12.6874	0.56956	0.0814:0.0:0.9186:0.0	.	113;113	B4DX40;Q13424	.;SNTA1_HUMAN	V	113	ENSP00000217381:L113V	ENSP00000217381:L113V	L	-	1	0	SNTA1	31490467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.755000	0.47540	2.554000	0.86153	0.561000	0.74099	CTC	-	HMMSmart_SM00233,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228		0.507	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	protein_coding	OTTHUMT00000078704.2	G	NM_003098		31490467	-1	no_errors	NM_003098	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FRY	10129	genome.wustl.edu	37	13	32731426	32731426	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr13:32731426C>T	ENST00000380250.3	+	16	2164	c.1668C>T	c.(1666-1668)taC>taT	p.Y556Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	556						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTATATTACTCTCAAGTAC	0.318																																																0			13											107.0	99.0	101.0					13																	32731426		1852	4099	5951	31629426	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1668C>T	13.37:g.32731426C>T			31629426	Q9Y3N6	Silent	SNP	PatternScan_GHMP_KINASES_ATP	p.Y556	ENST00000380250.3	37	c.1668	CCDS41875.1	13																																																																																			-	NULL		0.318	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	C	NM_023037		31629426	+1	no_errors	NM_023037	genbank	human	validated	54_36p	silent	SNP	1.000	T
BAG1	573	genome.wustl.edu	37	9	33261093	33261093	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:33261093C>T	ENST00000379704.2	-	3	743	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	BAG1_ENST00000472232.3_Missense_Mutation_p.G219R|BAG1_ENST00000467389.2_5'Flank			Q99933	BAG1_HUMAN	BCL2-associated athanogene	219	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACCTTTTTCCCAATTAACATG	0.398																																					GBM(77;1066 1502 5858 12192)											0			9											99.0	96.0	97.0					9																	33261093		2203	4300	6503	33251093	SO:0001583	missense	573			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.310G>A	9.37:g.33261093C>T	ENSP00000369026:p.Gly104Arg		33251093	O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264	p.G219R	ENST00000379704.2	37	c.655	CCDS55301.1	9	.	.	.	.	.	.	.	.	.	.	C	38	7.202288	0.98132	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.72942	-0.7;-0.7;-0.7	5.06	5.06	0.68205	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	M	0.80332	2.49	0.80722	D	1	P;P	0.49447	0.771;0.924	P;P	0.54924	0.504;0.764	T	0.82279	-0.0536	10	0.54805	T	0.06	-17.0671	13.798	0.63182	0.0:1.0:0.0:0.0	.	148;219	Q99933-3;Q99933	.;BAG1_HUMAN	R	219;104;104;110	ENSP00000420514:G219R;ENSP00000369026:G104R;ENSP00000419092:G110R	ENSP00000369022:G104R	G	-	1	0	BAG1	33251093	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.326000	0.72905	2.619000	0.88677	0.655000	0.94253	GGG	-	superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin,superfamily_BAG domain		0.398	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG1	protein_coding	OTTHUMT00000052042.3	C	NM_004323		33251093	-1	no_errors	NM_004323	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CWC25	54883	genome.wustl.edu	37	17	36971122	36971122	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:36971122G>A	ENST00000225428.5	-	3	717	c.420C>T	c.(418-420)ttC>ttT	p.F140F	CWC25_ENST00000536127.1_Silent_p.F77F	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	140										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACCTGATGATGAAGAGTGGGT	0.502																																																0			17											41.0	41.0	41.0					17																	36971122		1878	4107	5985	34224648	SO:0001819	synonymous_variant	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.420C>T	17.37:g.36971122G>A			34224648	A0JLM3|Q68DK5	Silent	SNP	HMMPfam_Cir_N	p.F140	ENST00000225428.5	37	c.420	CCDS45663.1	17																																																																																			-	NULL		0.502	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC49	protein_coding	OTTHUMT00000442186.6	G	NM_017748		34224648	-1	no_errors	NM_017748	genbank	human	provisional	54_36p	silent	SNP	1.000	A
ZNF971P	100419895	genome.wustl.edu	37	16	34681583	34681583	+	RNA	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:34681583G>T	ENST00000568619.1	-	0	896																											ACACTCATAGGGTTTCTCTCC	0.383																																																0			16																																								34539084			0																															16.37:g.34681583G>T			34539084		Missense_Mutation	SNP	superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P88T	ENST00000568619.1	37	c.262		16	.	.	.	.	.	.	.	.	.	.	g	4.855	0.158935	0.09236	.	.	ENSG00000214581	ENST00000398617	.	.	.	0.245	0.245	0.15512	.	.	.	.	.	T	0.37544	0.1007	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44847	-0.9301	3	.	.	.	.	6.3993	0.21630	3.0E-4:0.0:0.9997:0.0	.	.	.	.	T	88	.	.	P	-	1	0	AC018558.1	34539084	0.988000	0.35896	0.178000	0.23040	0.175000	0.22909	2.203000	0.42752	0.375000	0.24679	0.380000	0.24917	CCT	-	NULL		0.383	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	pseudogene	OTTHUMT00000431371.1	G			34539084	-1	no_stop_codon	ENST00000398617	ensembl	human	known	54_36p	missense	SNP	0.958	T
CNTFR	1271	genome.wustl.edu	37	9	34564607	34564607	+	Silent	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:34564607C>A	ENST00000378980.3	-	4	602	c.309G>T	c.(307-309)ctG>ctT	p.L103L	CNTFR_ENST00000351266.4_Silent_p.L103L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	103	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGCCCACATGCAGCAGGACTT	0.627																																																0			9											80.0	71.0	74.0					9																	34564607		2202	4300	6502	34554607	SO:0001819	synonymous_variant	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.309G>T	9.37:g.34564607C>A			34554607	Q5U050	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3	p.L103	ENST00000378980.3	37	c.309	CCDS6558.1	9																																																																																			-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	protein_coding	OTTHUMT00000052176.1	C			34554607	-1	no_errors	NM_001842	genbank	human	reviewed	54_36p	silent	SNP	0.883	A
CACNG2	10369	genome.wustl.edu	37	22	36960895	36960895	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:36960895C>T	ENST00000300105.6	-	4	1456	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	159					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCGGCATTGGCAGATATGTAC	0.537																																																0			22											100.0	113.0	109.0					22																	36960895		2202	4300	6502	35290841	SO:0001583	missense	10369			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.475G>A	22.37:g.36960895C>T	ENSP00000300105:p.Ala159Thr		35290841	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin	p.A159T	ENST00000300105.6	37	c.475	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413052	0.83449	.	.	ENSG00000166862	ENST00000300105	D	0.89196	-2.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.74881	2.28	0.80722	D	1	D	0.55605	0.972	P	0.51615	0.675	D	0.93021	0.6440	10	0.72032	D	0.01	-17.6385	19.4694	0.94956	0.0:1.0:0.0:0.0	.	159	Q9Y698	CCG2_HUMAN	T	159	ENSP00000300105:A159T	ENSP00000300105:A159T	A	-	1	0	CACNG2	35290841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.728000	0.68531	2.612000	0.88384	0.563000	0.77884	GCC	-	HMMPfam_PMP22_Claudin		0.537	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	protein_coding	OTTHUMT00000075500.2	C			35290841	-1	no_errors	NM_006078	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SPEF2	79925	genome.wustl.edu	37	5	35646871	35646871	+	Missense_Mutation	SNP	G	G	A	rs368259023		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:35646871G>A	ENST00000356031.3	+	5	842	c.688G>A	c.(688-690)Gag>Aag	p.E230K	SPEF2_ENST00000282469.6_Missense_Mutation_p.E230K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E230K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E230K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	230					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGCACTCGAGGCCCAAAA	0.338																																																0			5						G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	73.0	78.0	76.0		688,688	5.8	1.0	5		76	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SPEF2	NM_024867.3,NM_144722.3	56,56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	230/1823,230/515	35646871	1,13003	2203	4299	6502	35682628	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.688G>A	5.37:g.35646871G>A	ENSP00000348314:p.Glu230Lys		35682628	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	HMMPfam_DUF1042,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_hATC	p.E230K	ENST00000356031.3	37	c.688	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957203	0.73902	0.0	1.16E-4	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.34072	2.33;2.33;2.33;1.38;2.33	5.76	5.76	0.90799	.	0.411087	0.28119	N	0.016530	T	0.42899	0.1223	L	0.39633	1.23	0.80722	D	1	D;D;D	0.62365	0.991;0.983;0.983	B;B;P	0.50708	0.373;0.373;0.648	T	0.05435	-1.0885	10	0.28530	T	0.3	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	230;230;230	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	230;230;230;173;230	ENSP00000282469:E230K;ENSP00000348314:E230K;ENSP00000421593:E230K;ENSP00000426259:E173K;ENSP00000412125:E230K	ENSP00000282469:E230K	E	+	1	0	SPEF2	35682628	1.000000	0.71417	0.988000	0.46212	0.321000	0.28281	7.502000	0.81614	2.736000	0.93811	0.655000	0.94253	GAG	-	NULL		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35682628	+1	no_errors	NM_024867	genbank	human	validated	54_36p	missense	SNP	0.995	A
KCTD20	222658	genome.wustl.edu	37	6	36437884	36437884	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:36437884C>T	ENST00000373731.2	+	2	401	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.H4Y|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	4					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GATGAATGTTCACCGTGGCAG	0.453																																																0			6											111.0	102.0	105.0					6																	36437884		2203	4300	6503	36545862	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.10C>T	6.37:g.36437884C>T	ENSP00000362836:p.His4Tyr		36545862	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra	p.H4Y	ENST00000373731.2	37	c.10	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860991	0.32884	.	.	ENSG00000112078	ENST00000373731;ENST00000483557;ENST00000498267;ENST00000449081;ENST00000460983	T	0.45276	0.9	5.53	3.63	0.41609	.	0.641199	0.15130	N	0.278898	T	0.14830	0.0358	N	0.24115	0.695	0.38084	D	0.936779	B;B	0.17268	0.021;0.012	B;B	0.19391	0.025;0.016	T	0.06588	-1.0818	10	0.72032	D	0.01	-1.6512	8.1388	0.31071	0.2589:0.5912:0.1499:0.0	.	4;4	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	Y	4	ENSP00000362836:H4Y	ENSP00000265344:H4Y	H	+	1	0	KCTD20	36545862	0.179000	0.23135	0.816000	0.32577	0.538000	0.34931	2.041000	0.41213	1.313000	0.45069	0.655000	0.94253	CAC	-	NULL		0.453	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	protein_coding	OTTHUMT00000040345.2	C	NM_173562		36545862	+1	no_errors	NM_173562	genbank	human	provisional	54_36p	missense	SNP	0.140	T
KRTAP9-1	728318	genome.wustl.edu	37	17	39346815	39346815	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:39346815G>C	ENST00000398470.1	+	1	677	c.677G>C	c.(676-678)aGg>aCg	p.R226T	KRTAP9-1_ENST00000377723.3_Missense_Mutation_p.R88T|KRTAP9-1_ENST00000318329.5_Missense_Mutation_p.R92T	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	226	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						ACCTGCTACAGGACCACCTGT	0.607																																																0			17																																								36600341	SO:0001583	missense	728318			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.677G>C	17.37:g.39346815G>C	ENSP00000381488:p.Arg226Thr		36600341		Missense_Mutation	SNP	HMMPfam_Keratin_B2	p.R226T	ENST00000398470.1	37	c.677	CCDS56029.1	17	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185496	0.09495	.	.	ENSG00000240542	ENST00000377723;ENST00000398470;ENST00000318329	T;T;T	0.01495	4.92;4.92;4.83	3.35	-3.97	0.04094	.	.	.	.	.	T	0.02649	0.0080	M	0.74467	2.265	0.09310	N	1	.	.	.	.	.	.	T	0.40251	-0.9573	7	0.15066	T	0.55	.	3.7825	0.08686	0.2728:0.0:0.4429:0.2843	.	.	.	.	T	88;226;92	ENSP00000366952:R88T;ENSP00000381488:R226T;ENSP00000325023:R92T	ENSP00000325023:R92T	R	+	2	0	KRTAP9-1	36600341	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.208000	0.17415	-0.948000	0.03668	0.407000	0.27541	AGG	-	NULL		0.607	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC728318	protein_coding	OTTHUMT00000257781.1	G			36600341	+1	no_errors	XM_001718456	genbank	human	model	54_36p	missense	SNP	0.731	C
EPDR1	54749	genome.wustl.edu	37	7	37960375	37960375	+	5'UTR	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:37960375C>T	ENST00000199448.4	+	0	213				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Missense_Mutation_p.S65F|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						ACTCGCGCGTCCGGATCTCAA	0.667																																																0			7											19.0	28.0	25.0					7																	37960375		2200	4293	6493	37926900	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-167C>T	7.37:g.37960375C>T			37926900	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2	p.S65F	ENST00000199448.4	37	c.194	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334676	0.41297	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	3.6	1.77	0.24775	.	14.568000	0.00531	N	0.000207	T	0.26557	0.0649	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	9	0.72032	D	0.01	.	5.7765	0.18281	0.0:0.746:0.0:0.254	.	65	A4D1W8	.	F	65;39	.	ENSP00000199448:S65F	S	+	2	0	EPDR1	37926900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	0.326000	0.23384	-0.253000	0.11424	TCC	-	NULL		0.667	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	protein_coding	OTTHUMT00000220037.3	C	NM_017549		37926900	+1	no_errors	NM_017549	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
HSD17B7P2	158160	genome.wustl.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																																0			10																																								38685349			158160					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T			38685349		RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			-	-		0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	pseudogene	OTTHUMT00000047631.2	C	NR_003086		38685349	+1	pseudogene	NR_003086	genbank	human	provisional	54_36p	rna	SNP	0.000	T
SLC9B1P3	100421008	genome.wustl.edu	37	10	38944465	38944465	+	IGR	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:38944465C>T								RP11-291L22.4 (189361 upstream) : None (None downstream)																							AGCTTACCACCTGTAGGGGCA	0.363																																																0			10																																								38984471	SO:0001628	intergenic_variant	727860																															10.37:g.38944465C>T			38984471		Splice_Site	SNP	-	NULL		37	c.NULL		10																																																																																			-	-	0	0.363					LOC727860			C			38984471	-1	pseudogene	XR_037651	genbank	human	model	54_36p	splice_site	SNP	0.079	T
MPP3	4356	genome.wustl.edu	37	17	41878751	41878751	+	IGR	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:41878751C>T	ENST00000398389.4	-	0	2182				MPP3_ENST00000398393.1_3'UTR	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TATAAATTAACCACTACCACC	0.353																																																0			17																																								39234277	SO:0001628	intergenic_variant	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838		17.37:g.41878751C>T			39234277	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	RNA	SNP	-	NULL	ENST00000398389.4	37	NULL	CCDS42344.1	17																																																																																			-	-		0.353	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	protein_coding	OTTHUMT00000258371.1	C	NM_001932		39234277	-1	no_errors	NR_003562	genbank	human	reviewed	54_36p	rna	SNP	0.016	T
PTPRT	11122	genome.wustl.edu	37	20	41385102	41385102	+	Splice_Site	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:41385102C>A	ENST00000373187.1	-	6	858	c.859G>T	c.(859-861)Gag>Tag	p.E287*	PTPRT_ENST00000373198.4_Splice_Site_p.E287*|PTPRT_ENST00000373184.1_Splice_Site_p.E287*|PTPRT_ENST00000373190.1_Splice_Site_p.E287*|PTPRT_ENST00000373193.3_Splice_Site_p.E287*|PTPRT_ENST00000373201.1_Splice_Site_p.E287*|PTPRT_ENST00000356100.2_Splice_Site_p.E287*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E287K(1)|p.E287*(1)|p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCACTCACCTTTCACGATC	0.567																																																3	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)	lung(3)	20											50.0	50.0	50.0					20																	41385102		2139	4241	6380	40818516	SO:0001630	splice_region_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.859+1G>T	20.37:g.41385102C>A			40818516	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.E287*	ENST00000373187.1	37	c.859	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	40	8.517797	0.98845	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.75	5.75	0.90469	.	0.131818	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	.	E	-	1	0	PTPRT	40818516	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GAG	-	superfamily_Immunoglobulin		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	C		Nonsense_Mutation	40818516	-1	no_errors	NM_133170	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
CARD6	84674	genome.wustl.edu	37	5	40853737	40853737	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:40853737C>A	ENST00000254691.5	+	3	2502	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	768					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGTTCCATCCTTTGCCTTTT	0.473																																																0			5											88.0	101.0	96.0					5																	40853737		2202	4300	6502	40889494	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2303C>A	5.37:g.40853737C>A	ENSP00000254691:p.Pro768His		40889494	Q52LR2	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_CARD	p.P768H	ENST00000254691.5	37	c.2303	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976543	0.53720	.	.	ENSG00000132357	ENST00000254691	T	0.15952	2.38	5.15	5.15	0.70609	.	0.226589	0.31721	N	0.007174	T	0.31670	0.0804	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02288	-1.1182	10	0.87932	D	0	-7.3634	16.1821	0.81915	0.0:1.0:0.0:0.0	.	768	Q9BX69	CARD6_HUMAN	H	768	ENSP00000254691:P768H	ENSP00000254691:P768H	P	+	2	0	CARD6	40889494	0.164000	0.22935	0.062000	0.19696	0.525000	0.34531	3.286000	0.51724	2.683000	0.91414	0.561000	0.74099	CCT	-	NULL		0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	protein_coding	OTTHUMT00000211584.3	C			40889494	+1	no_errors	NM_032587	genbank	human	reviewed	54_36p	missense	SNP	0.031	A
RRP7A	27341	genome.wustl.edu	37	22	42910203	42910203	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:42910203G>C	ENST00000323013.6	-	6	681	c.666C>G	c.(664-666)agC>agG	p.S222R	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	222							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCACCCGCAAGCTGGCTGCCT	0.662																																																0			22											29.0	24.0	26.0					22																	42910203		2203	4300	6503	41240147	SO:0001583	missense	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.666C>G	22.37:g.42910203G>C	ENSP00000321449:p.Ser222Arg		41240147	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM	p.S222R	ENST00000323013.6	37	c.666	CCDS14036.1	22	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075781	0.36662	.	.	ENSG00000189306	ENST00000323013	T	0.23950	1.88	3.66	2.62	0.31277	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.092352	0.64402	D	0.000001	T	0.20700	0.0498	N	0.16602	0.42	0.33980	D	0.647846	P;P	0.50369	0.934;0.601	P;B	0.51101	0.659;0.345	T	0.23404	-1.0189	10	0.62326	D	0.03	-23.0179	7.569	0.27896	0.1999:0.0:0.8001:0.0	.	222;46	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	R	222	ENSP00000321449:S222R	ENSP00000321449:S222R	S	-	3	2	RRP7A	41240147	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	2.668000	0.46816	1.747000	0.51819	0.205000	0.17691	AGC	-	NULL		0.662	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	protein_coding	OTTHUMT00000320451.1	G	NM_015703		41240147	-1	no_errors	NM_015703	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CASK	8573	genome.wustl.edu	37	X	41646436	41646436	+	Missense_Mutation	SNP	G	G	T	rs201151046		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:41646436G>T	ENST00000378163.1	-	3	747	c.273C>A	c.(271-273)ttC>ttA	p.F91L	CASK_ENST00000361962.4_Missense_Mutation_p.F91L|CASK_ENST00000378154.1_Missense_Mutation_p.F91L|CASK_ENST00000378158.1_Missense_Mutation_p.F91L|CASK_ENST00000378166.4_Missense_Mutation_p.F91L|CASK_ENST00000442742.2_Missense_Mutation_p.F91L|CASK_ENST00000421587.2_Missense_Mutation_p.F91L|CASK_ENST00000318588.9_Missense_Mutation_p.F91L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTCACAATTCGAAAACCATGT	0.358																																					NSCLC(42;104 1086 3090 27189 35040)											0			X											165.0	139.0	148.0					X																	41646436		2203	4300	6503	41531380	SO:0001583	missense	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.273C>A	X.37:g.41646436G>T	ENSP00000367405:p.Phe91Leu		41531380	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,superfamily_SSF101288,HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin	p.F91L	ENST00000378163.1	37	c.273		X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958705	0.74016	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.51	3.17	0.36434	.	0.000000	0.46758	D	0.000278	T	0.26231	0.0640	N	0.00864	-1.135	0.80722	D	1	D;P;D	0.76494	0.966;0.882;0.999	B;P;P	0.60173	0.38;0.82;0.87	T	0.43278	-0.9401	10	0.72032	D	0.01	.	8.1679	0.31237	0.8293:0.0:0.1707:0.0	.	91;91;91	O14936-3;O14936-4;O14936-2	.;.;.	L	91	ENSP00000400526:F91L;ENSP00000322727:F91L;ENSP00000354641:F91L;ENSP00000367405:F91L;ENSP00000367400:F91L;ENSP00000367408:F91L;ENSP00000398007:F91L;ENSP00000367396:F91L	ENSP00000322727:F91L	F	-	3	2	CASK	41531380	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.652000	0.24888	0.750000	0.32877	-0.374000	0.07098	TTC	-	HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like		0.358	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	protein_coding	OTTHUMT00000056285.1	G	NM_003688		41531380	-1	no_errors	NM_003688	genbank	human	validated	54_36p	missense	SNP	1.000	T
TRAK1	22906	genome.wustl.edu	37	3	42264996	42264996	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:42264996C>A	ENST00000327628.5	+	16	3029	c.2629C>A	c.(2629-2631)Ccc>Acc	p.P877T	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.P819T|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	877					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCTGTGGGCCCCCGGGGCC	0.657																																					GBM(44;195 884 22595 31865 41850)											0			3											23.0	27.0	26.0					3																	42264996		1932	4130	6062	42240000	SO:0001583	missense	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2629C>A	3.37:g.42264996C>A	ENSP00000328998:p.Pro877Thr		42240000	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	HMMPfam_HAP1_N,PatternScan_HEMOPEXIN	p.P877T	ENST00000327628.5	37	c.2629	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116630	0.20795	.	.	ENSG00000182606	ENST00000327628;ENST00000396175	T;T	0.07800	3.16;3.16	4.47	3.57	0.40892	.	0.448545	0.20480	N	0.091519	T	0.05823	0.0152	N	0.14661	0.345	0.80722	D	1	B;B	0.27498	0.18;0.0	B;B	0.19946	0.027;0.0	T	0.34950	-0.9808	10	0.66056	D	0.02	.	12.9735	0.58525	0.0:0.6669:0.3331:0.0	.	819;877	C9JC32;Q9UPV9	.;TRAK1_HUMAN	T	877;819	ENSP00000328998:P877T;ENSP00000379478:P819T	ENSP00000328998:P877T	P	+	1	0	TRAK1	42240000	0.057000	0.20700	0.716000	0.30569	0.981000	0.71138	0.168000	0.16622	1.071000	0.40834	0.591000	0.81541	CCC	-	NULL		0.657	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	C	NM_014965		42240000	+1	no_errors	NM_001042646	genbank	human	validated	54_36p	missense	SNP	1.000	A
ERMAP	114625	genome.wustl.edu	37	1	43308770	43308770	+	Missense_Mutation	SNP	C	C	G	rs375385333		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:43308770C>G	ENST00000372517.2	+	12	1539	c.1295C>G	c.(1294-1296)gCt>gGt	p.A432G	RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.A342G|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.A432G	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	432			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAAGGCCATGCTAATGGAGAT	0.493																																																0			1											102.0	101.0	102.0					1																	43308770		2203	4300	6503	43081357	SO:0001583	missense	114625			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1295C>G	1.37:g.43308770C>G	ENSP00000361595:p.Ala432Gly		43081357	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	HMMSmart_IG,superfamily_SSF48726,HMMPfam_V-set,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.A432G	ENST00000372517.2	37	c.1295	CCDS475.1	1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134009	0.09032	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.55234	0.78;0.78;0.53	5.34	3.39	0.38822	.	0.125544	0.36482	N	0.002579	T	0.37320	0.0999	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.12066	-1.0562	10	0.36615	T	0.2	.	8.8787	0.35360	0.0:0.7604:0.1542:0.0853	.	432	Q96PL5	ERMAP_HUMAN	G	432;432;342	ENSP00000361595:A432G;ENSP00000361592:A432G;ENSP00000332439:A342G	ENSP00000332439:A342G	A	+	2	0	ERMAP	43081357	0.251000	0.23961	0.402000	0.26371	0.103000	0.19146	2.302000	0.43637	2.780000	0.95670	0.655000	0.94253	GCT	-	NULL		0.493	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMAP	protein_coding	OTTHUMT00000020180.1	C	NM_018538		43081357	+1	no_errors	NM_001017922	genbank	human	reviewed	54_36p	missense	SNP	0.012	G
SLC12A5	57468	genome.wustl.edu	37	20	44678357	44678357	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr20:44678357C>T	ENST00000454036.2	+	17	2227	c.2178C>T	c.(2176-2178)ggC>ggT	p.G726G	SLC12A5_ENST00000243964.3_Silent_p.G703G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	726					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGGGGAAGGGCCTGACCATCG	0.627																																																0			20											56.0	40.0	45.0					20																	44678357		2203	4300	6503	44111764	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2178C>T	20.37:g.44678357C>T			44111764	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	HMMPfam_AA_permease	p.G703	ENST00000454036.2	37	c.2109	CCDS46610.1	20																																																																																			-	NULL		0.627	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	C			44111764	+1	no_errors	NM_020708	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
ACP7	390928	genome.wustl.edu	37	19	39589176	39589176	+	Missense_Mutation	SNP	C	C	T	rs550310336		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:39589176C>T	ENST00000331256.5	+	3	474	c.200C>T	c.(199-201)tCg>tTg	p.S67L	PAPL_ENST00000594229.1_Missense_Mutation_p.S67L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		67						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TTGCAGCCGTCGGGGCCCCTG	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		12609	0.0		0.001	False		,,,				2504	0.0															0			19											38.0	34.0	35.0					19																	39589176		2203	4300	6503	44281016	SO:0001583	missense	390928																														ENST00000331256.5:c.200C>T	19.37:g.39589176C>T	ENSP00000327557:p.Ser67Leu		44281016	B2RN68	Missense_Mutation	SNP	superfamily_Purple_Pase_N,superfamily_SSF56300,HMMPfam_Metallophos	p.S67L	ENST00000331256.5	37	c.200	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164993	0.06502	.	.	ENSG00000183760	ENST00000331256	D	0.81908	-1.55	5.2	1.36	0.22044	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.283763	0.31233	N	0.008010	T	0.72827	0.3509	L	0.48986	1.54	0.09310	N	1	B	0.32781	0.384	B	0.24394	0.053	T	0.62770	-0.6784	10	0.33940	T	0.23	-1.733	9.9587	0.41682	0.1292:0.5311:0.3397:0.0	.	67	Q6ZNF0	PAPL_HUMAN	L	67	ENSP00000327557:S67L	ENSP00000327557:S67L	S	+	2	0	AC011443.1	44281016	0.001000	0.12720	0.001000	0.08648	0.048000	0.14542	0.809000	0.27168	1.172000	0.42781	0.655000	0.94253	TCG	-	superfamily_Purple_Pase_N		0.637	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ16165	protein_coding	OTTHUMT00000463810.1	C			44281016	+1	no_errors	NM_001004318	genbank	human	provisional	54_36p	missense	SNP	0.032	T
CDC5L	988	genome.wustl.edu	37	6	44397600	44397600	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:44397600C>G	ENST00000371477.3	+	14	2343	c.2044C>G	c.(2044-2046)Ctg>Gtg	p.L682V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	682					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGGGCCAATCTGGCTAGTAA	0.398																																																0			6											79.0	82.0	81.0					6																	44397600		2203	4300	6503	44505578	SO:0001583	missense	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2044C>G	6.37:g.44397600C>G	ENSP00000360532:p.Leu682Val		44505578	Q76N46|Q99974	Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.L682V	ENST00000371477.3	37	c.2044	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791379	0.31685	.	.	ENSG00000096401	ENST00000371477	T	0.45276	0.9	5.81	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.48218	1.51	0.52501	D	0.999951	B	0.33448	0.412	B	0.34242	0.178	T	0.03684	-1.1013	10	0.15066	T	0.55	-9.4027	12.011	0.53286	0.0:0.7673:0.0:0.2327	.	682	Q99459	CDC5L_HUMAN	V	682	ENSP00000360532:L682V	ENSP00000360532:L682V	L	+	1	2	CDC5L	44505578	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	0.963000	0.29293	1.454000	0.47793	0.650000	0.86243	CTG	-	NULL		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	protein_coding	OTTHUMT00000040743.1	C			44505578	+1	no_errors	NM_001253	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZFAND4	93550	genome.wustl.edu	37	10	46113604	46113604	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:46113604T>G	ENST00000344646.5	-	9	2247	c.2032A>C	c.(2032-2034)Agt>Cgt	p.S678R	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Nonstop_Mutation_p.*225S|ZFAND4_ENST00000374366.3_Missense_Mutation_p.S604R	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	678							zinc ion binding (GO:0008270)										TCGTAGCTACTAGCCAGTCCT	0.418																																																0			10											72.0	72.0	72.0					10																	46113604		2203	4300	6503	45433610	SO:0001583	missense	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2032A>C	10.37:g.46113604T>G	ENSP00000339484:p.Ser678Arg		45433610	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMSmart_SM00154,HMMPfam_zf-AN1	p.S678R	ENST00000344646.5	37	c.2032	CCDS7214.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.499617|3.499617	0.64298|0.64298	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370|ENST00000374371;ENST00000374376	T;T|.	0.42513|.	0.97;0.97|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Zinc finger, AN1-type (4);|.	0.128035|.	0.50627|.	D|.	0.000120|.	T|.	0.56262|.	0.1973|.	L|L	0.32530|0.32530	0.975|0.975	0.41020|0.41020	D|D	0.985076|0.985076	P|.	0.48089|.	0.905|.	P|.	0.48063|.	0.565|.	T|.	0.53746|.	-0.8395|.	10|.	0.87932|.	D|.	0|.	-23.8313|-23.8313	14.4463|14.4463	0.67352|0.67352	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	678|.	Q86XD8|.	ANUB1_HUMAN|.	R|S	678;604;560|225	ENSP00000339484:S678R;ENSP00000363486:S604R|.	ENSP00000339484:S678R|.	S|X	-|-	1|2	0|0	ANUBL1|ANUBL1	45433610|45433610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.353000|7.353000	0.79414|0.79414	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	AGT|TAG	-	HMMSmart_SM00154,HMMPfam_zf-AN1		0.418	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANUBL1	protein_coding	OTTHUMT00000047790.1	T	NM_174890		45433610	-1	no_errors	NM_174890	genbank	human	validated	54_36p	missense	SNP	1.000	G
SLC38A4	55089	genome.wustl.edu	37	12	47163126	47163126	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:47163126G>T	ENST00000447411.1	-	14	1591	c.1385C>A	c.(1384-1386)gCa>gAa	p.A462E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.A462E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	462					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATTATTAAGTGCAATAAGCAC	0.393																																																0			12											151.0	139.0	143.0					12																	47163126		2203	4300	6503	45449393	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1385C>A	12.37:g.47163126G>T	ENSP00000389843:p.Ala462Glu		45449393	A8K553	Missense_Mutation	SNP	HMMPfam_Aa_trans,PatternScan_RIBOSOMAL_L30	p.A462E	ENST00000447411.1	37	c.1385	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496179	0.44352	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02498	4.27;4.27	5.66	2.86	0.33363	.	0.285161	0.38436	N	0.001699	T	0.10337	0.0253	M	0.75777	2.31	0.34531	D	0.70925	P	0.37276	0.589	P	0.54100	0.742	T	0.02115	-1.1211	10	0.56958	D	0.05	-1.5269	8.4611	0.32927	0.3579:0.0:0.6421:0.0	.	462	Q969I6	S38A4_HUMAN	E	462	ENSP00000389843:A462E;ENSP00000266579:A462E	ENSP00000266579:A462E	A	-	2	0	SLC38A4	45449393	0.012000	0.17670	0.001000	0.08648	0.853000	0.48598	0.962000	0.29280	0.342000	0.23796	0.462000	0.41574	GCA	-	HMMPfam_Aa_trans		0.393	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	protein_coding	OTTHUMT00000404574.1	G			45449393	-1	no_errors	NM_018018	genbank	human	validated	54_36p	missense	SNP	0.976	T
CCR3	1232	genome.wustl.edu	37	3	46307529	46307529	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:46307529T>G	ENST00000357422.2	+	4	1423	c.880T>G	c.(880-882)Tgc>Ggc	p.C294G	CCR3_ENST00000395940.2_Missense_Mutation_p.C294G|CCR3_ENST00000395942.2_Missense_Mutation_p.C294G|CCR3_ENST00000541018.1_Missense_Mutation_p.C294G|CCR3_ENST00000545097.1_Missense_Mutation_p.C315G			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTACTCCCACTGCTGCATGAA	0.527																																																0			3											120.0	100.0	107.0					3																	46307529		2203	4300	6503	46282533	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.880T>G	3.37:g.46307529T>G	ENSP00000350003:p.Cys294Gly		46282533	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.C294G	ENST00000357422.2	37	c.880	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942091	0.53079	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.90669	0.7073	H	0.96489	3.83	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93538	0.6875	10	0.87932	D	0	.	16.0235	0.80516	0.0:0.0:0.0:1.0	.	315;294	F5GWL6;P51677	.;CCR3_HUMAN	G	294;315;294;294;294	ENSP00000350003:C294G;ENSP00000441600:C315G;ENSP00000440097:C294G;ENSP00000379271:C294G;ENSP00000379273:C294G	ENSP00000350003:C294G	C	+	1	0	CCR3	46282533	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	2.606000	0.46291	2.177000	0.69029	0.533000	0.62120	TGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	protein_coding	OTTHUMT00000257380.2	T			46282533	+1	no_errors	NM_001837	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GPR116	221395	genome.wustl.edu	37	6	46825964	46825964	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:46825964G>C	ENST00000283296.7	-	17	3964	c.3676C>G	c.(3676-3678)Cca>Gca	p.P1226A	GPR116_ENST00000362015.4_Missense_Mutation_p.P1226A|GPR116_ENST00000456426.2_Missense_Mutation_p.P1084A|GPR116_ENST00000545669.1_Missense_Mutation_p.P655A|GPR116_ENST00000265417.7_Missense_Mutation_p.P1226A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1226					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCAAGAGTGGTGTGAGGACC	0.517																																					NSCLC(59;410 1274 8751 36715 50546)											0			6											140.0	129.0	133.0					6																	46825964		2203	4300	6503	46933923	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3676C>G	6.37:g.46825964G>C	ENSP00000283296:p.Pro1226Ala		46933923	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	PatternScan_EGF_2,superfamily_SEA domain,HMMPfam_SEA,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.P1226A	ENST00000283296.7	37	c.3676	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244141	0.79912	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.38	5.38	0.77491	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000014	T	0.78710	0.4326	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80837	-0.1204	10	0.51188	T	0.08	-16.7704	19.5002	0.95091	0.0:0.0:1.0:0.0	.	655;781;1226;1084;1226	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	A	1226;1226;1226;1084;597;1226;655	ENSP00000283296:P1226A;ENSP00000354563:P1226A;ENSP00000412866:P1084A;ENSP00000265417:P1226A;ENSP00000441581:P655A	ENSP00000265417:P1226A	P	-	1	0	GPR116	46933923	1.000000	0.71417	0.837000	0.33122	0.961000	0.63080	9.779000	0.99018	2.679000	0.91253	0.650000	0.86243	CCA	-	HMMPfam_7tm_2		0.517	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46933923	-1	no_errors	NM_001098518	genbank	human	validated	54_36p	missense	SNP	0.979	C
CYP4B1	1580	genome.wustl.edu	37	1	47264867	47264867	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:47264867G>T	ENST00000271153.4	+	1	150	c.114G>T	c.(112-114)acG>acT	p.T38T	CYP4B1_ENST00000371919.4_Silent_p.T38T|CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Silent_p.T38T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	38					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGAGGCAGACGTTGGCTAAGG	0.582																																																0			1											68.0	57.0	61.0					1																	47264867		2203	4300	6503	47037454	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.114G>T	1.37:g.47264867G>T			47037454	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450	p.T38	ENST00000271153.4	37	c.114	CCDS542.1	1																																																																																			-	NULL		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	protein_coding	OTTHUMT00000021911.1	G	NM_000779		47037454	+1	no_errors	NM_001099772	genbank	human	reviewed	54_36p	silent	SNP	0.208	T
WDR13	64743	genome.wustl.edu	37	X	48463354	48463354	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:48463354C>T	ENST00000218056.5	+	9	1897	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	WDR13_ENST00000376729.5_Silent_p.D464D	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	464						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAACTGCGACGAGAGCCTAC	0.617																																																0			X											83.0	53.0	63.0					X																	48463354		2203	4300	6503	48348298	SO:0001819	synonymous_variant	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1392C>T	X.37:g.48463354C>T			48348298	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.D464	ENST00000218056.5	37	c.1392	CCDS14302.1	X																																																																																			-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	protein_coding	OTTHUMT00000060743.2	C			48348298	+1	no_errors	NM_017883	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SBF1	6305	genome.wustl.edu	37	22	50903536	50903536	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:50903536C>A	ENST00000390679.3	-	12	1410	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	SBF1_ENST00000348911.6_Missense_Mutation_p.G410V|SBF1_ENST00000380817.3_Missense_Mutation_p.G409V			O95248	MTMR5_HUMAN	SET binding factor 1	409	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTACCAGCCCACGCTGGCC	0.627																																																0			22											67.0	72.0	71.0					22																	50903536		2134	4242	6376	49250402	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1226G>T	22.37:g.50903536C>A	ENSP00000375097:p.Gly409Val		49250402	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMPfam_PH,HMMSmart_SM00233	p.G409V	ENST00000390679.3	37	c.1226		22	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593484	0.66219	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.42131	0.98;0.98;0.98	3.93	3.93	0.45458	dDENN (3);	0.370607	0.23569	N	0.046769	T	0.60894	0.2304	M	0.63843	1.955	0.58432	D	0.999999	D;P;P	0.63046	0.992;0.923;0.923	D;P;P	0.70487	0.969;0.56;0.56	T	0.65957	-0.6042	10	0.66056	D	0.02	.	15.7335	0.77825	0.0:1.0:0.0:0.0	.	409;410;409	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	V	409;410;420;419;409	ENSP00000370196:G409V;ENSP00000252027:G410V;ENSP00000375097:G409V	ENSP00000336522:G419V	G	-	2	0	SBF1	49250402	0.804000	0.28969	0.998000	0.56505	0.949000	0.60115	2.295000	0.43576	2.028000	0.59812	0.655000	0.94253	GGG	-	HMMPfam_dDENN,HMMSmart_SM00801		0.627	SBF1-201	KNOWN	basic	protein_coding	SBF1	protein_coding		C			49250402	-1	no_errors	NM_002972	genbank	human	validated	54_36p	missense	SNP	0.513	A
Unknown	0	genome.wustl.edu	37	11	50227442	50227442	+	IGR	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:50227442A>G								OR4C12 (223371 upstream) : RP11-347H15.4 (30307 downstream)																							CAGCAGAGGAAGAACAAGAAG	0.403																																																0			11																																								50184018	SO:0001628	intergenic_variant	646801																															11.37:g.50227442A>G			50184018		RNA	SNP	-	NULL		37	NULL		11																																																																																			-	-	0	0.403					LOC646801			A			50184018	+1	pseudogene	XR_017320	genbank	human	model	54_36p	rna	SNP	0.999	G
CLASRP	11129	genome.wustl.edu	37	19	45571691	45571691	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:45571691C>G	ENST00000221455.3	+	16	1819	c.1721C>G	c.(1720-1722)cCt>cGt	p.P574R	CLASRP_ENST00000544944.2_Intron|CLASRP_ENST00000391953.4_Missense_Mutation_p.P512R	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	574	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AAGCTGACGCCTCAGGAGAAG	0.607																																																0			19											76.0	68.0	71.0					19																	45571691		2203	4300	6503	50263531	SO:0001583	missense	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1721C>G	19.37:g.45571691C>G	ENSP00000221455:p.Pro574Arg		50263531	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	HMMPfam_DRY_EERY	p.P574R	ENST00000221455.3	37	c.1721	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134115	0.56828	.	.	ENSG00000104859	ENST00000221455;ENST00000391953	T;T	0.32988	1.43;1.43	5.44	4.34	0.51931	.	0.000000	0.35970	U	0.002873	T	0.48786	0.1519	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.66351	0.943;0.941	T	0.35425	-0.9789	10	0.31617	T	0.26	-15.3845	11.3418	0.49537	0.0:0.8168:0.1832:0.0	.	512;574	F8WAG9;Q8N2M8	.;CLASR_HUMAN	R	574;512	ENSP00000221455:P574R;ENSP00000375815:P512R	ENSP00000221455:P574R	P	+	2	0	CLASRP	50263531	0.985000	0.35326	0.922000	0.36590	0.878000	0.50629	3.594000	0.54008	2.576000	0.86940	0.561000	0.74099	CCT	-	NULL		0.607	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRS16	protein_coding	OTTHUMT00000316749.1	C	NM_007056		50263531	+1	no_errors	NM_007056	genbank	human	validated	54_36p	missense	SNP	0.991	G
NOVA2	4858	genome.wustl.edu	37	19	46443349	46443349	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:46443349C>T	ENST00000263257.5	-	4	1445	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	417	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGCTCCCACCAGGTTCTCAG	0.677																																																0			19											96.0	98.0	97.0					19																	46443349		2203	4300	6503	51135189	SO:0001819	synonymous_variant	4858			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1251G>A	19.37:g.46443349C>T			51135189	O43267|Q9UEA1	Silent	SNP	HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1	p.L417	ENST00000263257.5	37	c.1251	CCDS12679.1	19																																																																																			-	HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1		0.677	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	protein_coding	OTTHUMT00000437210.2	C	NM_002516		51135189	-1	no_errors	NM_002516	genbank	human	validated	54_36p	silent	SNP	1.000	T
PFDN5	5204	genome.wustl.edu	37	12	53689386	53689386	+	Missense_Mutation	SNP	T	T	G	rs199718276		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:53689386T>G	ENST00000551018.1	+	1	312	c.35T>G	c.(34-36)cTg>cGg	p.L12R	PFDN5_ENST00000351500.3_Missense_Mutation_p.L12R|PFDN5_ENST00000550846.1_Missense_Mutation_p.L12R|PFDN5_ENST00000334478.4_Missense_Mutation_p.L12R	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	12					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						GAGCTGAATCTGCCGCAGCTA	0.587																																																0			12											109.0	106.0	107.0					12																	53689386		2203	4300	6503	51975653	SO:0001583	missense	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.35T>G	12.37:g.53689386T>G	ENSP00000447942:p.Leu12Arg		51975653	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Prefoldin	p.L12R	ENST00000551018.1	37	c.35	CCDS8853.1	12	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854221	0.91355	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	D;T;D	0.82344	-1.6;-1.26;-1.6	5.73	5.73	0.89815	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.91181	0.7222	M	0.84948	2.725	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68039	0.955;0.915	D	0.92451	0.5970	10	0.87932	D	0	.	14.2815	0.66216	0.0:0.0:0.0:1.0	.	12;12	Q9C083;Q99471	.;PFD5_HUMAN	R	12	ENSP00000447942:L12R;ENSP00000266964:L12R;ENSP00000334188:L12R	ENSP00000243040:L12R	L	+	2	0	PFDN5	51975653	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.030000	0.70903	2.324000	0.78689	0.533000	0.62120	CTG	-	superfamily_Prefoldin		0.587	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	protein_coding	OTTHUMT00000405368.2	T			51975653	+1	no_errors	NM_002624	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PBRM1	55193	genome.wustl.edu	37	3	52623162	52623162	+	Nonsense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:52623162G>C	ENST00000296302.7	-	18	2890	c.2889C>G	c.(2887-2889)taC>taG	p.Y963*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y978*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y963*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y931*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y978*			Q86U86	PB1_HUMAN	polybromo 1	963	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.			Y -> H (in Ref. 5; BAB71210). {ECO:0000305}.	chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCACATAGACGTAATCTCCAA	0.453			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		Rec	yes		3	3p21	55193	polybromo 1		E	0			3											199.0	189.0	192.0					3																	52623162		2203	4300	6503	52598202	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2889C>G	3.37:g.52623162G>C	ENSP00000296302:p.Tyr963*		52598202	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_BAH,HMMSmart_BAH,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box	p.Y931*	ENST00000296302.7	37	c.2793		3	.	.	.	.	.	.	.	.	.	.	G	37	6.539554	0.97646	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	-8.14	0.01069	.	0.059846	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2094	0.65755	0.43:0.0:0.57:0.0	.	.	.	.	X	931;963;963;963;963;963;978;978;962;921	.	ENSP00000296302:Y963X	Y	-	3	2	PBRM1	52598202	0.970000	0.33590	0.946000	0.38457	0.963000	0.63663	0.280000	0.18790	-1.318000	0.02289	-1.076000	0.02234	TAC	-	HMMPfam_BAH,HMMSmart_BAH		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	G	NM_018165		52598202	-1	no_errors	NM_018165	genbank	human	validated	54_36p	nonsense	SNP	0.994	C
LNX1	84708	genome.wustl.edu	37	4	54344851	54344851	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:54344851C>G	ENST00000263925.7	-	8	1858	c.1544G>C	c.(1543-1545)gGt>gCt	p.G515A	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.G419A	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	515	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAGATTCACCGGGGTCTTT	0.478																																																0			4											129.0	124.0	126.0					4																	54344851		2203	4300	6503	54039608	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1544G>C	4.37:g.54344851C>G	ENSP00000263925:p.Gly515Ala		54039608	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ	p.G419A	ENST00000263925.7	37	c.1256	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.195901	0.00299	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.28454	1.61;1.61	4.98	-1.22	0.09494	PDZ/DHR/GLGF (3);	0.660669	0.16907	N	0.194659	T	0.14570	0.0352	L	0.33189	0.99	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.17979	0.02;0.006	T	0.26430	-1.0103	10	0.08837	T	0.75	.	2.1373	0.03765	0.1022:0.2961:0.2032:0.3986	.	515;419	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	A	419;353;515	ENSP00000302879:G419A;ENSP00000263925:G515A	ENSP00000263925:G515A	G	-	2	0	LNX1	54039608	0.795000	0.28851	0.442000	0.26870	0.010000	0.07245	0.871000	0.28023	-0.103000	0.12175	-0.793000	0.03317	GGT	-	superfamily_PDZ,HMMPfam_PDZ		0.478	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	protein_coding	OTTHUMT00000219934.2	C			54039608	-1	no_errors	NM_032622	genbank	human	reviewed	54_36p	missense	SNP	0.575	G
RUVBL2	10856	genome.wustl.edu	37	19	49514495	49514495	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:49514495C>T	ENST00000595090.1	+	11	1393	c.929C>T	c.(928-930)tCc>tTc	p.S310F	RUVBL2_ENST00000601968.1_Missense_Mutation_p.S265F|RUVBL2_ENST00000413176.2_Missense_Mutation_p.S265F	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	310					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GAGAGCTTCTCCTTCCTCAAC	0.637																																																0			19											68.0	73.0	71.0					19																	49514495		2166	4278	6444	54206307	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.929C>T	19.37:g.49514495C>T	ENSP00000473172:p.Ser310Phe		54206307	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_TIP49	p.S310F	ENST00000595090.1	37	c.929	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.088250	0.94100	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.50277	0.75	5.29	5.29	0.74685	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87145	0.2205	10	0.87932	D	0	-28.373	16.7985	0.85608	0.0:1.0:0.0:0.0	.	310;276	Q9Y230;B3KNL2	RUVB2_HUMAN;.	F	310;265	ENSP00000413890:S265F	ENSP00000221413:S310F	S	+	2	0	RUVBL2	54206307	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.390000	0.66261	2.651000	0.90000	0.561000	0.74099	TCC	-	superfamily_SSF52540,HMMSmart_AAA,HMMPfam_TIP49		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	protein_coding	OTTHUMT00000466235.1	C			54206307	+1	no_errors	NM_006666	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	12	56905871	56905871	+	IGR	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:56905871T>A								GLS2 (23690 upstream) : RBMS2 (9841 downstream)																							AAGAAAAAGGTGACAAGGCTC	0.398																																																0			12																																								55192138	SO:0001628	intergenic_variant	644745																															12.37:g.56905871T>A			55192138		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.398					LOC644745			T			55192138	+1	pseudogene	XR_016744	genbank	human	model	54_36p	rna	SNP	0.998	A
PCSK9	255738	genome.wustl.edu	37	1	55512280	55512280	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:55512280A>T	ENST00000302118.5	+	3	774	c.484A>T	c.(484-486)Acc>Tcc	p.T162S	PCSK9_ENST00000452118.2_Missense_Mutation_p.T162S|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	162					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGAGCGGATTACCCCTCCACG	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)											0			1											75.0	74.0	74.0					1																	55512280		2203	4300	6503	55284868	SO:0001583	missense	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.484A>T	1.37:g.55512280A>T	ENSP00000303208:p.Thr162Ser		55284868	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8	p.T162S	ENST00000302118.5	37	c.484	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120580	0.37436	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.74315	-0.83;-0.47	4.73	-6.14	0.02111	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.525640	0.17935	N	0.157043	T	0.33614	0.0869	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.21540	T	0.41	-0.0541	1.5118	0.02497	0.13:0.287:0.1513:0.4316	.	162	Q8NBP7	PCSK9_HUMAN	S	162	ENSP00000303208:T162S;ENSP00000401598:T162S	ENSP00000303208:T162S	T	+	1	0	PCSK9	55284868	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.119000	0.10676	-1.070000	0.03149	0.459000	0.35465	ACC	-	superfamily_Subtilisin-like		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	protein_coding	OTTHUMT00000022280.1	A	NM_174936		55284868	+1	no_errors	NM_174936	genbank	human	reviewed	54_36p	missense	SNP	0.440	T
OR5F1	338674	genome.wustl.edu	37	11	55761772	55761772	+	Silent	SNP	G	G	A	rs573086848		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:55761772G>A	ENST00000278409.1	-	1	329	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	110					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGATGCATTCGGTTGTCGCCA	0.468																																																0			11											83.0	82.0	82.0					11																	55761772		2201	4296	6497	55518348	SO:0001819	synonymous_variant	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.330C>T	11.37:g.55761772G>A			55518348	Q495D1|Q6IFB9	Silent	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.T110	ENST00000278409.1	37	c.330	CCDS31515.1	11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.468	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	protein_coding	OTTHUMT00000391532.1	G	NM_003697		55518348	-1	no_errors	NM_003697	genbank	human	provisional	54_36p	silent	SNP	0.002	A
NLRC5	84166	genome.wustl.edu	37	16	57092018	57092018	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:57092018T>G	ENST00000262510.6	+	28	4013	c.3788T>G	c.(3787-3789)cTt>cGt	p.L1263R	NLRC5_ENST00000308149.7_Missense_Mutation_p.L1234R|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1234R|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1263R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1263					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCAGATGCCTTCTGGAATGT	0.572																																																0			16											61.0	50.0	54.0					16																	57092018		2198	4300	6498	55649519	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3788T>G	16.37:g.57092018T>G	ENSP00000262510:p.Leu1263Arg		55649519	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368,HMMPfam_LRR_1	p.L1263R	ENST00000262510.6	37	c.3788	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365362	0.41902	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	T;T;T;T;T	0.63744	-0.06;4.86;-0.06;4.86;-0.06	4.68	4.68	0.58851	.	.	.	.	.	T	0.75398	0.3844	M	0.73962	2.25	0.23640	N	0.997228	D;D;D;D	0.61697	0.99;0.966;0.963;0.99	P;P;P;D	0.63283	0.883;0.902;0.839;0.913	T	0.66472	-0.5915	9	0.87932	D	0	.	10.5153	0.44885	0.0:0.0:0.0:1.0	.	947;1234;1263;1263	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	R	1263;1234;1263;706;1234;739	ENSP00000262510:L1263R;ENSP00000308886:L1234R;ENSP00000389739:L1263R;ENSP00000441727:L1234R;ENSP00000441597:L739R	ENSP00000262510:L1263R	L	+	2	0	NLRC5	55649519	0.762000	0.28451	0.568000	0.28447	0.120000	0.20174	3.336000	0.52113	1.978000	0.57642	0.449000	0.29647	CTT	-	superfamily_RNI-like,HMMSmart_SM00367,HMMSmart_SM00368		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	protein_coding	OTTHUMT00000257346.1	T	NM_032206		55649519	+1	no_errors	NM_032206	genbank	human	validated	54_36p	missense	SNP	0.674	G
OR8J3	81168	genome.wustl.edu	37	11	55904979	55904979	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:55904979G>A	ENST00000301529.1	-	1	215	c.216C>T	c.(214-216)ggC>ggT	p.G72G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGTAGAGTTGCCAAGATTGA	0.443																																																0			11											137.0	134.0	135.0					11																	55904979		2201	4296	6497	55661555	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.216C>T	11.37:g.55904979G>A			55661555	Q6IFB6|Q96RC2	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G72	ENST00000301529.1	37	c.216	CCDS31520.1	11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.443	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	protein_coding	OTTHUMT00000391542.1	G	NM_001004064		55661555	-1	no_errors	NM_001004064	genbank	human	provisional	54_36p	silent	SNP	0.000	A
OR8H1	219469	genome.wustl.edu	37	11	56057611	56057611	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:56057611A>T	ENST00000313022.2	-	1	955	c.928T>A	c.(928-930)Tcc>Acc	p.S310T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AATTACCTGGAGTCCTGTCTT	0.333																																																0			11											82.0	94.0	90.0					11																	56057611		2201	4294	6495	55814187	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.928T>A	11.37:g.56057611A>T	ENSP00000323595:p.Ser310Thr		55814187	B2RNI7|Q6IFC5	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S310T	ENST00000313022.2	37	c.928	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	A	7.808	0.715113	0.15306	.	.	ENSG00000181693	ENST00000313022	T	0.00488	7.04	2.95	-3.35	0.04928	.	1.333530	0.05097	N	0.486245	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.41034	-0.9531	10	0.52906	T	0.07	.	2.7657	0.05319	0.4122:0.0:0.2371:0.3507	.	310	Q8NGG4	OR8H1_HUMAN	T	310	ENSP00000323595:S310T	ENSP00000323595:S310T	S	-	1	0	OR8H1	55814187	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.682000	0.25335	-0.702000	0.05056	0.366000	0.22137	TCC	-	NULL		0.333	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	protein_coding	OTTHUMT00000370019.1	A	NM_001005199		55814187	-1	no_errors	NM_001005199	genbank	human	provisional	54_36p	missense	SNP	0.000	T
LRP1	4035	genome.wustl.edu	37	12	57594908	57594908	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:57594908C>T	ENST00000243077.3	+	65	10783	c.10317C>T	c.(10315-10317)tgC>tgT	p.C3439C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3439	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGACAACTGCGGAGATGGGG	0.602																																																0			12											214.0	183.0	194.0					12																	57594908		2203	4300	6503	55881175	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10317C>T	12.37:g.57594908C>T			55881175	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1	p.C3439	ENST00000243077.3	37	c.10317	CCDS8932.1	12																																																																																			-	superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	C	NM_002332		55881175	+1	no_errors	NM_002332	genbank	human	validated	54_36p	silent	SNP	0.992	T
SHANK1	50944	genome.wustl.edu	37	19	51205807	51205807	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:51205807G>A	ENST00000293441.1	-	11	1682	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	SHANK1_ENST00000391814.1_Missense_Mutation_p.P555L|SHANK1_ENST00000359082.3_Missense_Mutation_p.P555L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	555	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGCGTCCGGGTACCGCTGA	0.697																																																0			19											48.0	38.0	42.0					19																	51205807		2203	4300	6503	55897619	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1664C>T	19.37:g.51205807G>A	ENSP00000293441:p.Pro555Leu		55897619	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.P555L	ENST00000293441.1	37	c.1664	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	g	14.09	2.430867	0.43122	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14144	2.53;2.53;2.53	3.55	3.55	0.40652	Src homology-3 domain (2);	0.000000	0.64402	U	0.000004	T	0.41305	0.1153	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.53070	-0.8490	10	0.87932	D	0	-14.9361	15.0802	0.72108	0.0:0.0:1.0:0.0	.	555	Q9Y566	SHAN1_HUMAN	L	555	ENSP00000293441:P555L;ENSP00000351984:P555L;ENSP00000375690:P555L	ENSP00000293441:P555L	P	-	2	0	SHANK1	55897619	1.000000	0.71417	0.161000	0.22692	0.678000	0.39670	8.523000	0.90576	2.286000	0.76751	0.555000	0.69702	CCC	-	superfamily_SH3-domain		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	G	NM_016148		55897619	-1	no_errors	NM_016148	genbank	human	validated	54_36p	missense	SNP	0.985	A
OTX2-AS1	100309464	genome.wustl.edu	37	14	57508327	57508327	+	RNA	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:57508327A>C	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		AAATTGTGACAAACACGGCCA	0.443																																																0			14																																								56578080			440180			BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57508327A>C			56578080		RNA	SNP	-	NULL	ENST00000554725.1	37	NULL		14																																																																																			-	-		0.443	OTX2-AS1-002	KNOWN	basic	antisense	LOC440180	antisense	OTTHUMT00000412895.1	A	NR_029385		56578080	+1	pseudogene	XR_017569	genbank	human	model	54_36p	rna	SNP	0.000	C
DST	667	genome.wustl.edu	37	6	56481863	56481863	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:56481863C>T	ENST00000370765.6	-	24	6509	c.6402G>A	c.(6400-6402)acG>acA	p.T2134T	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1891					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T2134T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGGCTTTCGTCAGAAACT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											49.0	50.0	50.0					6																	56481863		2203	4300	6503	56589822	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6402G>A	6.37:g.56481863C>T			56589822	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin	p.T2134	ENST00000370765.6	37	c.6402	CCDS4959.1	6																																																																																			-	superfamily_SSF75399,HMMSmart_PLEC		0.423	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56589822	-1	no_errors	NM_001723	genbank	human	reviewed	54_36p	silent	SNP	0.738	T
PRKAA2	5563	genome.wustl.edu	37	1	57159472	57159472	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:57159472G>C	ENST00000371244.4	+	5	576	c.510G>C	c.(508-510)ctG>ctC	p.L170L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GTGAATTTCTGAGAACTAGTT	0.308																																																0			1											121.0	130.0	127.0					1																	57159472		2203	4300	6503	56932060	SO:0001819	synonymous_variant	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.510G>C	1.37:g.57159472G>C			56932060	Q9H1E8|Q9UD43	Silent	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.L170	ENST00000371244.4	37	c.510	CCDS605.1	1																																																																																			-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.308	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	G	NM_006252		56932060	+1	no_errors	NM_006252	genbank	human	validated	54_36p	silent	SNP	0.984	C
SLC38A7	55238	genome.wustl.edu	37	16	58711249	58711249	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:58711249G>C	ENST00000570101.1	-	5	1574	c.691C>G	c.(691-693)Cca>Gca	p.P231A	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.P231A|SLC38A7_ENST00000564010.1_Missense_Mutation_p.P142A|SLC38A7_ENST00000564100.1_Missense_Mutation_p.P231A			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	231					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						ATGTTCCCTGGGGTCATCTCT	0.577																																																0			16											185.0	140.0	155.0					16																	58711249		2198	4300	6498	57268750	SO:0001583	missense	55238			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.691C>G	16.37:g.58711249G>C	ENSP00000454646:p.Pro231Ala		57268750	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.P231A	ENST00000570101.1	37	c.691	CCDS10800.1	16	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229358	0.79688	.	.	ENSG00000103042	ENST00000219320	T	0.02050	4.48	5.85	5.85	0.93711	.	0.048127	0.85682	D	0.000000	T	0.09379	0.0231	M	0.69823	2.125	0.80722	D	1	P;D	0.67145	0.9;0.996	P;P	0.61201	0.484;0.885	T	0.00752	-1.1581	9	.	.	.	.	12.4598	0.55725	0.0757:0.0:0.9243:0.0	.	231;231	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	A	231	ENSP00000219320:P231A	.	P	-	1	0	SLC38A7	57268750	1.000000	0.71417	0.807000	0.32361	0.944000	0.59088	6.290000	0.72712	2.773000	0.95371	0.655000	0.94253	CCA	-	HMMPfam_Aa_trans		0.577	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	protein_coding	OTTHUMT00000422206.2	G	NM_018231		57268750	-1	no_errors	NM_018231	genbank	human	provisional	54_36p	missense	SNP	0.958	C
POLR2B	5431	genome.wustl.edu	37	4	57873038	57873038	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:57873038G>A	ENST00000381227.1	+	11	1687	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	POLR2B_ENST00000314595.5_Missense_Mutation_p.R425Q|POLR2B_ENST00000431623.2_Missense_Mutation_p.R350Q|POLR2B_ENST00000441246.2_Missense_Mutation_p.R418Q			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	425					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTATTGATCGAGGAAAGGAT	0.343																																																0			4											79.0	86.0	84.0					4																	57873038		2203	4300	6503	57567795	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1274G>A	4.37:g.57873038G>A	ENSP00000370625:p.Arg425Gln		57567795	A8K1A8|Q8IZ61	Missense_Mutation	SNP	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7	p.R425Q	ENST00000381227.1	37	c.1274	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098847	0.76870	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.2	5.2	0.72013	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	L	0.61218	1.895	0.80722	D	1	P;P	0.39696	0.683;0.683	B;B	0.39840	0.311;0.311	T	0.80271	-0.1452	10	0.52906	T	0.07	.	19.098	0.93260	0.0:0.0:1.0:0.0	.	350;425	C9J4M6;P30876	.;RPB2_HUMAN	Q	425;350;418;425	ENSP00000370625:R425Q;ENSP00000391096:R350Q;ENSP00000391452:R418Q;ENSP00000312735:R425Q	ENSP00000312735:R425Q	R	+	2	0	POLR2B	57567795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.661000	0.98601	2.600000	0.87896	0.655000	0.94253	CGA	-	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	protein_coding	OTTHUMT00000250692.1	G	NM_000938		57567795	+1	no_errors	NM_000938	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PDE4D	5144	genome.wustl.edu	37	5	58273131	58273131	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:58273131C>G	ENST00000340635.6	-	12	1769	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	PDE4D_ENST00000502484.2_Missense_Mutation_p.E471Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E241Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E402Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E396Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E471Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E230Q|PDE4D_ENST00000405755.2_Missense_Mutation_p.E410Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E468Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	532					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.E396*(2)|p.E410*(1)|p.E468*(1)|p.E471*(1)|p.E402*(1)|p.E532*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGATGGTTCTCTAAGACTGAG	0.353																																																7	Substitution - Nonsense(7)	lung(7)	5											123.0	113.0	116.0					5																	58273131		1846	4092	5938	58308888	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1594G>C	5.37:g.58273131C>G	ENSP00000345502:p.Glu532Gln		58308888	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.E532Q	ENST00000340635.6	37	c.1594	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042442	0.93685	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.56	5.56	0.83823	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	H	0.97874	4.095	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.99;0.996;0.99;0.992;0.992;0.99;1.0;0.999	D	0.96834	0.9613	10	0.87932	D	0	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	471;532;468;395;410;402;307;241	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Q	532;401;396;468;230;241;402;410;471;471;230	ENSP00000345502:E532Q;ENSP00000353152:E396Q;ENSP00000424852:E468Q;ENSP00000351800:E230Q;ENSP00000321739:E241Q;ENSP00000425605:E402Q;ENSP00000384806:E410Q;ENSP00000423094:E471Q;ENSP00000442734:E471Q;ENSP00000421013:E230Q	ENSP00000321739:E241Q	E	-	1	0	PDE4D	58308888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.890000	0.99128	0.655000	0.94253	GAG	-	superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I		0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	protein_coding	OTTHUMT00000367940.3	C			58308888	-1	no_errors	NM_001104631	genbank	human	validated	54_36p	missense	SNP	1.000	G
PCNXL4	64430	genome.wustl.edu	37	14	60591865	60591865	+	Silent	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:60591865T>A	ENST00000406854.1	+	9	3530	c.2976T>A	c.(2974-2976)ccT>ccA	p.P992P	PCNXL4_ENST00000535349.1_Silent_p.P199P|PCNXL4_ENST00000317623.4_Silent_p.P758P|PCNXL4_ENST00000404681.2_Silent_p.P992P|PCNXL4_ENST00000406949.1_Silent_p.P758P			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	992						integral component of membrane (GO:0016021)											CTCCTAGTCCTGGTCATATAT	0.368																																																0			14											59.0	60.0	60.0					14																	60591865		2203	4300	6503	59661618	SO:0001819	synonymous_variant	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2976T>A	14.37:g.60591865T>A			59661618	A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	HMMPfam_Pecanex_C	p.P758	ENST00000406854.1	37	c.2274		14																																																																																			-	NULL		0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	C14orf135	protein_coding	OTTHUMT00000317847.1	T	NM_022495		59661618	+1	no_errors	NM_022495	genbank	human	validated	54_36p	silent	SNP	0.592	A
ZNF549	256051	genome.wustl.edu	37	19	58049641	58049641	+	Silent	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr19:58049641G>T	ENST00000376233.3	+	4	1450	c.1269G>T	c.(1267-1269)ggG>ggT	p.G423G	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Silent_p.G410G|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	423					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)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATGTGGGAAGGCCTTCA	0.413																																																0			19											59.0	60.0	60.0					19																	58049641		2203	4300	6503	62741453	SO:0001819	synonymous_variant	256051			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1269G>T	19.37:g.58049641G>T			62741453	B3KV91|O43336|Q8NAR4	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G410	ENST00000376233.3	37	c.1230	CCDS56106.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.413	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	protein_coding	OTTHUMT00000466780.1	G	NM_153263		62741453	+1	no_errors	NM_153263	genbank	human	provisional	54_36p	silent	SNP	0.982	T
RCOR2	283248	genome.wustl.edu	37	11	63681759	63681759	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:63681759G>A	ENST00000301459.4	-	7	1036	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	217					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCAGGATCGGGCTCTCCCTCA	0.637																																																0			11											64.0	53.0	57.0					11																	63681759		2201	4297	6498	63438335	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.649C>T	11.37:g.63681759G>A	ENSP00000301459:p.Pro217Ser		63438335	Q96FP3	Missense_Mutation	SNP	HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.P217S	ENST00000301459.4	37	c.649	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	G	6.952	0.545428	0.13312	.	.	ENSG00000167771	ENST00000301459	T	0.39592	1.07	4.73	4.73	0.59995	.	0.308552	0.31415	N	0.007681	T	0.08846	0.0219	N	0.00151	-1.98	0.28145	N	0.929639	B	0.17465	0.022	B	0.19666	0.026	T	0.30621	-0.9972	10	0.07990	T	0.79	.	6.4702	0.22003	0.093:0.0:0.7246:0.1823	.	217	Q8IZ40	RCOR2_HUMAN	S	217	ENSP00000301459:P217S	ENSP00000301459:P217S	P	-	1	0	RCOR2	63438335	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	3.295000	0.51794	2.333000	0.79357	0.561000	0.74099	CCC	-	NULL		0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCOR2	protein_coding	OTTHUMT00000318233.1	G	NM_173587		63438335	-1	no_errors	NM_173587	genbank	human	provisional	54_36p	missense	SNP	0.950	A
ADAMTS6	11174	genome.wustl.edu	37	5	64521995	64521995	+	IGR	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:64521995T>G								ADAMTS6 (27403 upstream) : ADAMTS6 (71039 downstream)																							ACGTTCAGTGTAGAAATTATA	0.443																																																0			5											105.0	97.0	100.0					5																	64521995		2203	4300	6503	64557751	SO:0001628	intergenic_variant	11174																															5.37:g.64521995T>G			64557751		Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC"	p.Y662S		37	c.1985		5	.	.	.	.	.	.	.	.	.	.	T	8.757	0.922614	0.18056	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.63255	-0.03;-0.03	5.2	5.2	0.72013	.	0.058178	0.64402	D	0.000001	T	0.59169	0.2174	M	0.62016	1.91	0.80722	D	1	P;B	0.36222	0.544;0.265	B;B	0.34873	0.191;0.191	T	0.59085	-0.7520	10	0.29301	T	0.29	.	15.0583	0.71933	0.0:0.0:0.0:1.0	.	662;662	D6R9L6;Q9UKP5	.;ATS6_HUMAN	S	662;612;662	ENSP00000370443:Y662S;ENSP00000423551:Y662S	ENSP00000261306:Y612S	Y	-	2	0	ADAMTS6	64557751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.634000	0.83273	1.933000	0.56026	0.528000	0.53228	TAC	-	NULL	0	0.443					ADAMTS6			T			64557751	-1	no_errors	NM_197941	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
NPAS4	266743	genome.wustl.edu	37	11	66191656	66191656	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:66191656G>T	ENST00000311034.2	+	7	1471	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	432					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CATCAGCCAGGAGGCTGTGCC	0.557																																																0			11											183.0	179.0	180.0					11																	66191656		2200	4295	6495	65948232	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1295G>T	11.37:g.66191656G>T	ENSP00000311196:p.Gly432Val		65948232	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3	p.G432V	ENST00000311034.2	37	c.1295	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938459	0.52972	.	.	ENSG00000174576	ENST00000311034	T	0.51817	0.69	4.88	4.88	0.63580	.	0.000000	0.49305	D	0.000150	T	0.48205	0.1487	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.49952	-0.8884	10	0.46703	T	0.11	-6.5085	13.3947	0.60843	0.0:0.0:1.0:0.0	.	432	Q8IUM7	NPAS4_HUMAN	V	432	ENSP00000311196:G432V	ENSP00000311196:G432V	G	+	2	0	NPAS4	65948232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.875000	0.56108	2.538000	0.85594	0.563000	0.77884	GGA	-	NULL		0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	protein_coding	OTTHUMT00000392634.1	G	NM_178864		65948232	+1	no_errors	NM_178864	genbank	human	validated	54_36p	missense	SNP	1.000	T
LINC01410	103352539	genome.wustl.edu	37	9	66455047	66455047	+	lincRNA	SNP	C	C	T	rs77230474		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:66455047C>T	ENST00000424345.1	+	0	0																											GGCCGTGATGCACGGGATGTT	0.483																																																0			9																																								66194867			0																															9.37:g.66455047C>T			66194867		Splice_Site	SNP	-	NULL	ENST00000424345.1	37	c.NULL		9																																																																																			-	-		0.483	RP11-262H14.1-001	KNOWN	basic	lincRNA	ENSG00000218456	lincRNA	OTTHUMT00000128851.1	C			66194867	+1	no_coding_region:pseudogene	ENST00000405657	ensembl	human	known	54_36p	splice_site	SNP	0.000	T
NDUFV1	4723	genome.wustl.edu	37	11	67377004	67377004	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:67377004C>G	ENST00000322776.6	+	4	561	c.408C>G	c.(406-408)caC>caG	p.H136Q	RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H129Q|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H127Q|NDUFV1_ENST00000526169.1_3'UTR|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Missense_Mutation_p.H35Q	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ATGATCCTCACAAGCTGCTGG	0.637																																																0			11											74.0	96.0	88.0					11																	67377004		2200	4294	6494	67133580	SO:0001583	missense	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.408C>G	11.37:g.67377004C>G	ENSP00000322450:p.His136Gln		67133580	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	HMMPfam_Complex1_51K,PatternScan_COMPLEX1_51K_1,HMMPfam_SLBB,HMMPfam_NADH_4Fe-4S,PatternScan_COMPLEX1_51K_2	p.H136Q	ENST00000322776.6	37	c.408	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839409	0.71488	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000532244;ENST00000529927;ENST00000532343;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000530638;ENST00000528314	D;D;D;D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	4.17	4.17	0.49024	NADH:ubiquinone oxidoreductase, 51kDa subunit (1);	0.054070	0.64402	D	0.000001	D	0.96457	0.8844	M	0.93106	3.38	0.54753	D	0.999983	P;P;P;P	0.50272	0.783;0.91;0.533;0.933	P;P;P;P	0.61592	0.633;0.559;0.577;0.891	D	0.97283	0.9919	10	0.62326	D	0.03	-15.3296	15.3019	0.73958	0.0:1.0:0.0:0.0	.	35;129;127;136	B4DE93;G3V0I5;P49821-2;P49821	.;.;.;NDUV1_HUMAN	Q	136;35;35;127;35;129;129;124;97;35	ENSP00000322450:H136Q;ENSP00000432015:H35Q;ENSP00000435202:H35Q;ENSP00000436766:H127Q;ENSP00000431751:H35Q;ENSP00000395368:H129Q;ENSP00000437267:H129Q;ENSP00000434438:H124Q;ENSP00000436936:H97Q;ENSP00000434581:H35Q	ENSP00000322450:H136Q	H	+	3	2	NDUFV1	67133580	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.069000	0.50026	2.174000	0.68829	0.555000	0.69702	CAC	-	HMMPfam_Complex1_51K		0.637	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	protein_coding	OTTHUMT00000388406.1	C	NM_007103		67133580	+1	no_errors	NM_007103	genbank	human	validated	54_36p	missense	SNP	1.000	G
CTNNA3	29119	genome.wustl.edu	37	10	68526038	68526038	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:68526038G>A	ENST00000433211.2	-	9	1439	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T422I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGCCTGCTGGTGTGTTCATG	0.418																																																0			10											206.0	189.0	194.0					10																	68526038		2203	4300	6503	68196044	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1265C>T	10.37:g.68526038G>A	ENSP00000389714:p.Thr422Ile		68196044		Missense_Mutation	SNP	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin	p.T422I	ENST00000433211.2	37	c.1265	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712982	0.89112	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37235	1.21;1.21	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000012	T	0.47619	0.1455	L	0.29908	0.895	0.80722	D	1	B;D	0.57257	0.331;0.979	B;P	0.60236	0.182;0.871	T	0.39542	-0.9609	10	0.87932	D	0	-21.1257	18.3732	0.90420	0.0:0.0:1.0:0.0	.	422;422	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	I	422	ENSP00000389714:T422I;ENSP00000362849:T422I	ENSP00000362849:T422I	T	-	2	0	CTNNA3	68196044	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.004000	0.88535	2.941000	0.99782	0.655000	0.94253	ACC	-	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin		0.418	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68196044	-1	no_errors	NM_013266	genbank	human	validated	54_36p	missense	SNP	1.000	A
PROKR1	10887	genome.wustl.edu	37	2	68882441	68882441	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:68882441C>T	ENST00000303786.3	+	3	1335	c.915C>T	c.(913-915)atC>atT	p.I305I	PROKR1_ENST00000394342.2_Silent_p.I305I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	305					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.I305I(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTTCACCATCGTGCGCGACT	0.582																																																1	Substitution - coding silent(1)	large_intestine(1)	2											142.0	107.0	119.0					2																	68882441		2203	4300	6503	68735945	SO:0001819	synonymous_variant	10887			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.915C>T	2.37:g.68882441C>T			68735945	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I305	ENST00000303786.3	37	c.915	CCDS1889.1	2																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.582	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	protein_coding	OTTHUMT00000251760.2	C			68735945	+1	no_errors	NM_138964	genbank	human	validated	54_36p	silent	SNP	0.782	T
RAB37	326624	genome.wustl.edu	37	17	72725485	72725485	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:72725485A>T	ENST00000340415.3	+	2	1172	c.163A>T	c.(163-165)Act>Tct	p.T55S	RAB37_ENST00000402449.4_Missense_Mutation_p.T55S	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	62					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CTTCTCGGCCACTGTGGGCAT	0.602																																																0			17											165.0	136.0	146.0					17																	72725485		2203	4300	6503	70237080	SO:0001583	missense	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.163A>T	17.37:g.72725485A>T	ENSP00000341354:p.Thr55Ser		70237080	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras	p.T55S	ENST00000340415.3	37	c.163		17	.	.	.	.	.	.	.	.	.	.	a	32	5.142512	0.94560	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	D;D	0.87571	-2.27;-2.27	5.27	5.27	0.74061	.	.	.	.	.	D	0.91300	0.7257	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.982;0.989;0.987	D	0.92124	0.5706	9	0.87932	D	0	.	13.4949	0.61419	1.0:0.0:0.0:0.0	.	55;55;55	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	S	55	ENSP00000341354:T55S;ENSP00000383934:T55S	ENSP00000341354:T55S	T	+	1	0	RAB37	70237080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.511000	0.90535	2.025000	0.59659	0.520000	0.50463	ACT	-	superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras		0.602	RAB37-005	PUTATIVE	basic	protein_coding	RAB37	protein_coding	OTTHUMT00000258876.2	A	NM_175738		70237080	+1	no_errors	NM_175738	genbank	human	validated	54_36p	missense	SNP	1.000	T
HIGD2B	123346	genome.wustl.edu	37	15	72968595	72968595	+	Missense_Mutation	SNP	G	G	A	rs542891198	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:72968595G>A	ENST00000311755.3	-	3	644	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C				Q4VC39	HIG2B_HUMAN	HIG1 hypoxia inducible domain family, member 2B	41	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)											CGGGTCTTGCGAAGGAACTTT	0.577																																																0			15																																								70755648	SO:0001583	missense	123346			BC040890		15q24.1	2014-04-01	2011-08-04	2009-03-18	ENSG00000175202	ENSG00000175202			26984	other	unknown			"""HIG1 hypoxia inducible domain family, member 2B (pseudogene)"""	HIGD2BP			Standard	NR_002780		Approved		uc002ava.3	Q4VC39	OTTHUMG00000172776	ENST00000311755.3:c.121C>T	15.37:g.72968595G>A	ENSP00000307951:p.Arg41Cys		70755648		Missense_Mutation	SNP	HMMPfam_HIG_1_N	p.R41C	ENST00000311755.3	37	c.121		15	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610916	0.28712	.	.	ENSG00000175202	ENST00000311755	.	.	.	0.158	0.158	0.14942	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54207	-0.8328	6	0.87932	D	0	-18.734	2.9707	0.05922	2.0E-4:2.0E-4:0.5121:0.4875	.	.	.	.	C	41	.	ENSP00000307951:R41C	R	-	1	0	HIGD2B	70755648	0.977000	0.34250	0.033000	0.17914	0.033000	0.12548	0.481000	0.22260	0.202000	0.20498	0.205000	0.17691	CGC	-	HMMPfam_HIG_1_N		0.577	HIGD2B-001	KNOWN	basic|appris_principal	protein_coding	HIGD2B	protein_coding	OTTHUMT00000420413.2	G	NM_001017925		70755648	-1	no_errors	ENST00000311755	ensembl	human	known	54_36p	missense	SNP	1.000	A
EVPL	2125	genome.wustl.edu	37	17	74017579	74017579	+	Silent	SNP	G	G	C	rs138421545	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:74017579G>C	ENST00000301607.3	-	9	1234	c.981C>G	c.(979-981)acC>acG	p.T327T	EVPL_ENST00000586740.1_Silent_p.T327T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	327	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTGCAGCTGGGTCTCCTGGC	0.711													G|||	9	0.00179712	0.0	0.0058	5008	,	,		8246	0.0		0.003	False		,,,				2504	0.002															0			17						G		8,4394		0,8,2193	30.0	27.0	28.0		981	1.3	1.0	17	dbSNP_134	28	75,8523		0,75,4224	no	coding-synonymous	EVPL	NM_001988.2		0,83,6417	CC,CG,GG		0.8723,0.1817,0.6385		327/2034	74017579	83,12917	2201	4299	6500	71529174	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.981C>G	17.37:g.74017579G>C			71529174	A0AUV5	Silent	SNP	superfamily_Spectrin repeat,HMMSmart_SM00150,HMMSmart_SM00250,superfamily_Prefoldin,superfamily_Plakin repeat,HMMPfam_Plectin	p.T327	ENST00000301607.3	37	c.981	CCDS11737.1	17																																																																																			-	HMMSmart_SM00150,superfamily_Spectrin repeat		0.711	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	G	NM_001988		71529174	-1	no_errors	NM_001988	genbank	human	validated	54_36p	silent	SNP	0.998	C
INPPL1	3636	genome.wustl.edu	37	11	71945599	71945599	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:71945599C>G	ENST00000298229.2	+	21	2559	c.2355C>G	c.(2353-2355)gcC>gcG	p.A785A	INPPL1_ENST00000538751.1_Silent_p.A543A|INPPL1_ENST00000541756.1_Silent_p.A543A	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	785					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAATGATGCCCAGAGCAGTG	0.577																																																0			11											85.0	70.0	75.0					11																	71945599		2200	4293	6493	71623247	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2355C>G	11.37:g.71945599C>G			71623247	B2RTX5|Q13577|Q13578	Silent	SNP	superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1	p.A785	ENST00000298229.2	37	c.2355	CCDS8213.1	11																																																																																			-	NULL		0.577	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	protein_coding	OTTHUMT00000396789.1	C	NM_001567		71623247	+1	no_errors	NM_001567	genbank	human	reviewed	54_36p	silent	SNP	0.996	G
PGM2L1	283209	genome.wustl.edu	37	11	74062441	74062441	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:74062441T>C	ENST00000298198.4	-	6	1047	c.736A>G	c.(736-738)Atc>Gtc	p.I246V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	246					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TAAAAACAGATCTTTTTCAGA	0.373																																																0			11											64.0	65.0	65.0					11																	74062441		2200	4293	6493	73740089	SO:0001583	missense	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.736A>G	11.37:g.74062441T>C	ENSP00000298198:p.Ile246Val		73740089	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain	p.I246V	ENST00000298198.4	37	c.736	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681634	0.29872	.	.	ENSG00000165434	ENST00000298198	T	0.62232	0.04	5.25	4.08	0.47627	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.060369	0.64402	D	0.000003	T	0.33731	0.0873	N	0.04787	-0.16	0.29638	N	0.844938	B	0.15719	0.014	B	0.14578	0.011	T	0.20371	-1.0277	10	0.13470	T	0.59	-11.0077	6.1049	0.20067	0.1628:0.0:0.1696:0.6676	.	246	Q6PCE3	PGM2L_HUMAN	V	246	ENSP00000298198:I246V	ENSP00000298198:I246V	I	-	1	0	PGM2L1	73740089	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.082000	0.41605	0.898000	0.36418	0.533000	0.62120	ATC	-	superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_II		0.373	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	protein_coding	OTTHUMT00000398324.1	T	NM_173582		73740089	-1	no_errors	NM_173582	genbank	human	validated	54_36p	missense	SNP	1.000	C
GTF2IRD2	84163	genome.wustl.edu	37	7	74236962	74236962	+	Silent	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:74236962A>G	ENST00000405086.2	-	6	753	c.564T>C	c.(562-564)agT>agC	p.S188S	GTF2IRD2_ENST00000361071.5_Silent_p.S188S|GTF2IRD2_ENST00000453619.2_Silent_p.S188S	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TACCCAGCTGACTCTCTGGTC	0.498																																					NSCLC(40;560 1096 7501 40315 49546)											0			7											6.0	7.0	6.0					7																	74236962		2110	4195	6305	73874898	SO:0001819	synonymous_variant	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.564T>C	7.37:g.74236962A>G			73874898	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	HMMPfam_GTF2I	p.S188	ENST00000405086.2	37	c.564	CCDS5576.1	7																																																																																			-	NULL		0.498	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	protein_coding	OTTHUMT00000252712.3	A	NM_173537		73874898	-1	no_errors	NM_173537	genbank	human	validated	54_36p	silent	SNP	0.127	G
USP54	159195	genome.wustl.edu	37	10	75276830	75276830	+	Silent	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:75276830A>G	ENST00000339859.4	-	19	3454	c.3354T>C	c.(3352-3354)taT>taC	p.Y1118Y	USP54_ENST00000408019.1_Silent_p.Y1118Y|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Silent_p.Y206Y|USP54_ENST00000422491.2_Silent_p.Y300Y|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Silent_p.Y968Y|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1118					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTCTGGCCTATAGGTCTCCT	0.502																																					Colon(195;880 2046 8854 25025 38456)											0			10											98.0	97.0	98.0					10																	75276830		2203	4300	6503	74946836	SO:0001819	synonymous_variant	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3354T>C	10.37:g.75276830A>G			74946836	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH	p.Y1118	ENST00000339859.4	37	c.3354	CCDS7329.2	10																																																																																			-	NULL		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	protein_coding	OTTHUMT00000316563.2	A	NM_152586		74946836	-1	no_errors	NM_152586	genbank	human	provisional	54_36p	silent	SNP	0.047	G
TYW3	127253	genome.wustl.edu	37	1	75229700	75229700	+	Missense_Mutation	SNP	G	G	A	rs544642809		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:75229700G>A	ENST00000370867.3	+	6	772	c.683G>A	c.(682-684)cGt>cAt	p.R228H	TYW3_ENST00000421739.2_Missense_Mutation_p.R144H|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_Missense_Mutation_p.R108H|TYW3_ENST00000457880.2_Missense_Mutation_p.R195H	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	228					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAAAAAACACGTGCCCAGTGT	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16097	0.0		0.0	False		,,,				2504	0.0															0			1											109.0	112.0	111.0					1																	75229700		2203	4300	6503	75002288	SO:0001583	missense	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.683G>A	1.37:g.75229700G>A	ENSP00000359904:p.Arg228His		75002288	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	HMMPfam_TYW3,superfamily_DUF207	p.R228H	ENST00000370867.3	37	c.683	CCDS666.1	1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201222	0.06219	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.46451	0.87;1.46	5.3	-10.6	0.00265	.	2.292820	0.01174	N	0.006927	T	0.07052	0.0179	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.07028	-1.0794	10	0.37606	T	0.19	20.5665	9.2319	0.37441	0.3392:0.1823:0.4785:0.0	.	144;195;228	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	H	195;228;144	ENSP00000407025:R195H;ENSP00000359904:R228H	ENSP00000359904:R228H	R	+	2	0	TYW3	75002288	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.613000	0.00208	-2.156000	0.00790	-1.851000	0.00568	CGT	-	NULL		0.338	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	protein_coding	OTTHUMT00000026573.1	G	NM_138467		75002288	+1	no_errors	NM_138467	genbank	human	provisional	54_36p	missense	SNP	0.000	A
ADCK1	57143	genome.wustl.edu	37	14	78365548	78365548	+	Missense_Mutation	SNP	G	G	T	rs143343441		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:78365548G>T	ENST00000238561.5	+	6	787	c.688G>T	c.(688-690)Ggg>Tgg	p.G230W	ADCK1_ENST00000341211.5_Missense_Mutation_p.G162W	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	237	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTCAATGAAGGGAGGAATGC	0.502																																																0			14											178.0	155.0	163.0					14																	78365548		2203	4300	6503	77435301	SO:0001583	missense	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.688G>T	14.37:g.78365548G>T	ENSP00000238561:p.Gly230Trp		77435301	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_ABC1	p.G230W	ENST00000238561.5	37	c.688	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678130	0.88542	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.57595	0.39;0.39;0.39	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88718	0.3227	10	0.87932	D	0	-18.9456	19.2381	0.93869	0.0:0.0:1.0:0.0	.	162;230	Q9UIE6;Q86TW2-2	.;.	W	230;230;162	ENSP00000238561:G230W;ENSP00000451549:G230W;ENSP00000339663:G162W	ENSP00000238561:G230W	G	+	1	0	ADCK1	77435301	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	9.768000	0.98965	2.539000	0.85634	0.591000	0.81541	GGG	-	superfamily_Kinase_like,HMMPfam_ABC1		0.502	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	protein_coding	OTTHUMT00000413864.1	G	NM_020421		77435301	+1	no_errors	NM_020421	genbank	human	validated	54_36p	missense	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77599980	77599980	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:77599980C>A	ENST00000461745.1	+	8	1971	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	ROBO2_ENST00000332191.8_Missense_Mutation_p.F357L|ROBO2_ENST00000487694.3_Missense_Mutation_p.F373L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	357	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTACTTTTCCCAAACCAAC	0.413																																																0			3											87.0	85.0	86.0					3																	77599980		1911	4114	6025	77682670	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1071C>A	3.37:g.77599980C>A	ENSP00000417164:p.Phe357Leu		77682670	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.F357L	ENST00000461745.1	37	c.1071	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621497	0.66787	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.74002	-0.8;-0.8;-0.8	5.35	0.449	0.16619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000191	T	0.79118	0.4392	L	0.49778	1.585	0.48395	D	0.999649	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80756	-0.1240	9	0.51188	T	0.08	.	9.7049	0.40209	0.0:0.5042:0.0:0.4958	.	373;357;357	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	373;373;377;357;357;78	ENSP00000417335:F373L;ENSP00000417164:F357L;ENSP00000327536:F357L	ENSP00000327536:F357L	F	+	3	2	ROBO2	77682670	0.999000	0.42202	0.999000	0.59377	0.981000	0.71138	0.555000	0.23422	0.075000	0.16796	-0.339000	0.08088	TTC	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	C	XM_031246		77682670	+1	no_errors	NM_002942	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
TENM4	26011	genome.wustl.edu	37	11	78381103	78381103	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:78381103G>C	ENST00000278550.7	-	32	6749	c.6287C>G	c.(6286-6288)gCt>gGt	p.A2096G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2096					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTTGATCACAGCCTGCATGCT	0.498																																																0			11											67.0	71.0	70.0					11																	78381103		2098	4217	6315	78058751	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6287C>G	11.37:g.78381103G>C	ENSP00000278550:p.Ala2096Gly		78058751	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat	p.A1434G	ENST00000278550.7	37	c.4301	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449844	0.43531	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89485	-2.52;0.95	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	L	0.31752	0.955	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.89536	0.3789	9	.	.	.	.	18.1852	0.89790	0.0:0.0:1.0:0.0	.	2096	Q6N022	TEN4_HUMAN	G	2096;560	ENSP00000278550:A2096G;ENSP00000431711:A560G	.	A	-	2	0	ODZ4	78058751	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.536000	0.73842	2.597000	0.87782	0.655000	0.94253	GCT	-	NULL		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	protein_coding	OTTHUMT00000391406.2	G			78058751	-1	no_errors	NM_001098816	genbank	human	validated	54_36p	missense	SNP	1.000	C
VPS13A	23230	genome.wustl.edu	37	9	80020896	80020896	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:80020896A>T	ENST00000360280.3	+	70	9652	c.9392A>T	c.(9391-9393)gAa>gTa	p.E3131V	VPS13A_ENST00000376646.3_Missense_Mutation_p.E67V|VPS13A_ENST00000484581.2_Missense_Mutation_p.E67V|VPS13A_ENST00000376636.3_Missense_Mutation_p.E3092V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3131					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGCGCATTGAAGCAAAGGTA	0.338																																																0			9											175.0	168.0	170.0					9																	80020896		2203	4300	6503	79210716	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9392A>T	9.37:g.80020896A>T	ENSP00000353422:p.Glu3131Val		79210716	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	HMMPfam_DUF1162	p.E3131V	ENST00000360280.3	37	c.9392	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.85|18.85	3.710821|3.710821	0.68730|0.68730	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646|ENST00000467124	T;T;T;T|.	0.71698|.	0.78;0.87;-0.59;-0.59|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68732|.	0.3033|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;P|.	0.48016|.	0.041;0.904|.	B;P|.	0.51170|.	0.054;0.661|.	T|.	0.66110|.	-0.6005|.	9|.	.|.	.|.	.|.	.|.	16.0339|16.0339	0.80608|0.80608	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3092;3131|.	Q96RL7-3;Q96RL7|.	.;VP13A_HUMAN|.	V|X	3092;3131;67;67|5	ENSP00000365823:E3092V;ENSP00000353422:E3131V;ENSP00000446020:E67V;ENSP00000365834:E67V|.	.|.	E|K	+|+	2|1	0|0	VPS13A|VPS13A	79210716|79210716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.723000|8.723000	0.91458|0.91458	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	GAA|AAG	-	NULL		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	A	NM_015186		79210716	+1	no_errors	NM_033305	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IL16	3603	genome.wustl.edu	37	15	81561966	81561966	+	Missense_Mutation	SNP	G	G	A	rs376544346		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:81561966G>A	ENST00000302987.4	+	4	652	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	IL16_ENST00000394660.2_Missense_Mutation_p.V218M			Q14005	IL16_HUMAN	interleukin 16	218	Interaction with GRIN2A.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTCCAACATCGTGCTGATGAA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18978	0.0		0.001	False		,,,				2504	0.0															0			15						G	MET/VAL,MET/VAL	0,3922		0,0,1961	118.0	120.0	119.0		652,652	5.0	1.0	15		119	1,8313		0,1,4156	no	missense,missense	IL16	NM_001172128.1,NM_172217.3	21,21	0,1,6117	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging	218/1332,218/1333	81561966	1,12235	1961	4157	6118	79349021	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.652G>A	15.37:g.81561966G>A	ENSP00000302935:p.Val218Met		79349021	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.V218M	ENST00000302987.4	37	c.652	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609778	0.87258	0.0	1.2E-4	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.000000	0.39909	N	0.001232	T	0.55940	0.1952	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58317	-0.7657	10	0.66056	D	0.02	.	18.4544	0.90714	0.0:0.0:1.0:0.0	.	218;218	Q14005;Q14005-2	IL16_HUMAN;.	M	218;218;50;218	ENSP00000378155:V218M;ENSP00000302935:V218M	ENSP00000302935:V218M	V	+	1	0	IL16	79349021	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.380000	0.90149	2.599000	0.87857	0.561000	0.74099	GTG	-	superfamily_PDZ domain-like,HMMPfam_PDZ		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	protein_coding	OTTHUMT00000303952.1	G	NM_172217		79349021	+1	no_errors	NM_172217	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CEP128	145508	genome.wustl.edu	37	14	81251440	81251440	+	Silent	SNP	T	T	C	rs200408578		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:81251440T>C	ENST00000555265.1	-	15	2385	c.2010A>G	c.(2008-2010)gcA>gcG	p.A670A	CEP128_ENST00000281129.3_Silent_p.A670A			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	670						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATTTTGCCTGTGCAGTGAGGT	0.468																																																0			14											241.0	191.0	208.0					14																	81251440		2203	4300	6503	80321193	SO:0001819	synonymous_variant	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2010A>G	14.37:g.81251440T>C			80321193	B9EK52|Q86X97|Q96ML4	Silent	SNP	NULL	p.A670	ENST00000555265.1	37	c.2010	CCDS32130.1	14																																																																																			-	NULL		0.468	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf145	protein_coding	OTTHUMT00000413415.1	T	NM_152446		80321193	-1	no_errors	NM_152446	genbank	human	validated	54_36p	silent	SNP	0.056	C
ELMOD3	84173	genome.wustl.edu	37	2	85584341	85584341	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:85584341C>G	ENST00000409890.2	+	4	687	c.20C>G	c.(19-21)tCt>tGt	p.S7C	ELMOD3_ENST00000315658.7_Missense_Mutation_p.S7C|ELMOD3_ENST00000409344.3_Missense_Mutation_p.S7C|ELMOD3_ENST00000409013.3_Missense_Mutation_p.S7C|RETSAT_ENST00000263854.6_5'Flank|RETSAT_ENST00000295802.4_5'Flank|ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000393852.4_Missense_Mutation_p.S7C|ELMOD3_ENST00000428955.2_Missense_Mutation_p.S7C|RETSAT_ENST00000457495.2_5'Flank			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	7					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AAATCTTGCTCTTTCCATAGT	0.363																																																0			2											108.0	107.0	108.0					2																	85584341		2203	4300	6503	85437852	SO:0001583	missense	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.20C>G	2.37:g.85584341C>G	ENSP00000386304:p.Ser7Cys		85437852	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	HMMPfam_ELMO_CED12	p.S7C	ENST00000409890.2	37	c.20	CCDS46352.1	2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566309	0.27915	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658;ENST00000462891;ENST00000418268	T;T;T;T;T;T;T;T	0.35789	1.38;1.38;1.38;1.38;1.38;1.36;1.29;1.36	5.84	2.97	0.34412	.	0.360033	0.24831	N	0.035253	T	0.29223	0.0727	L	0.51422	1.61	0.26977	N	0.965444	B;B	0.14012	0.009;0.002	B;B	0.16722	0.016;0.002	T	0.26395	-1.0104	10	0.87932	D	0	-7.1419	5.6124	0.17412	0.1411:0.6406:0.1374:0.0808	.	7;7	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	C	7	ENSP00000386257:S7C;ENSP00000387139:S7C;ENSP00000386304:S7C;ENSP00000386248:S7C;ENSP00000377434:S7C;ENSP00000412692:S7C;ENSP00000318264:S7C;ENSP00000393443:S7C	ENSP00000318264:S7C	S	+	2	0	ELMOD3	85437852	0.244000	0.23889	1.000000	0.80357	0.046000	0.14306	0.439000	0.21575	1.503000	0.48686	-0.191000	0.12829	TCT	-	NULL		0.363	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	protein_coding	OTTHUMT00000329124.1	C	NM_032213		85437852	+1	no_errors	NM_032213	genbank	human	validated	54_36p	missense	SNP	1.000	G
LRRCC1	85444	genome.wustl.edu	37	8	86047174	86047174	+	Silent	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:86047174T>G	ENST00000360375.3	+	13	2210	c.2061T>G	c.(2059-2061)tcT>tcG	p.S687S	LRRCC1_ENST00000414626.2_Silent_p.S667S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	687				S -> P (in Ref. 2; BAB71626). {ECO:0000305}.	mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTCTTCCTCTTTAATTAAAG	0.338																																																0			8											76.0	74.0	75.0					8																	86047174		1813	4061	5874	86234426	SO:0001819	synonymous_variant	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2061T>G	8.37:g.86047174T>G			86234426	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1	p.S687	ENST00000360375.3	37	c.2061	CCDS43750.1	8																																																																																			-	NULL		0.338	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	protein_coding	OTTHUMT00000380267.1	T	NM_033402		86234426	+1	no_errors	NM_033402	genbank	human	validated	54_36p	silent	SNP	1.000	G
RASA1	5921	genome.wustl.edu	37	5	86679543	86679543	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:86679543C>G	ENST00000274376.6	+	21	3268	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	RASA1_ENST00000512763.1_Missense_Mutation_p.L735V|RASA1_ENST00000456692.2_Missense_Mutation_p.L725V|RASA1_ENST00000506290.1_Missense_Mutation_p.L736V	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	902	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTTGTTTTTCTTCGACTCAT	0.279																																																0			5											70.0	65.0	66.0					5																	86679543		2203	4300	6503	86715299	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2704C>G	5.37:g.86679543C>G	ENSP00000274376:p.Leu902Val		86715299	B2R6W3|Q9UDI1	Missense_Mutation	SNP	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1	p.L902V	ENST00000274376.6	37	c.2704	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858238	0.91433	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.86	5.86	0.93980	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.996;0.991;0.995	T	0.78321	-0.2249	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	736;735;736;725;902	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	902;725;735;736	ENSP00000274376:L902V;ENSP00000411221:L725V;ENSP00000422008:L735V;ENSP00000420905:L736V	ENSP00000274376:L902V	L	+	1	0	RASA1	86715299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.937000	0.99478	0.650000	0.86243	CTT	-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1		0.279	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86715299	+1	no_errors	NM_002890	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RMND5A	64795	genome.wustl.edu	37	2	86997199	86997199	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:86997199T>C	ENST00000283632.4	+	7	1403	c.908T>C	c.(907-909)aTt>aCt	p.I303T	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	303										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AAAGCCGTGATTGAACAGAGG	0.458																																																0			2											193.0	192.0	193.0					2																	86997199		2203	4300	6503	86850710	SO:0001583	missense	64795			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.908T>C	2.37:g.86997199T>C	ENSP00000283632:p.Ile303Thr		86850710	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box	p.I303T	ENST00000283632.4	37	c.908	CCDS1991.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984410	0.74474	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.28694	0.88	0.80722	D	1	P	0.36789	0.57	B	0.37451	0.25	T	0.54275	-0.8318	9	0.59425	D	0.04	-25.1926	15.9709	0.80019	0.0:0.0:0.0:1.0	.	303	Q9H871	RMD5A_HUMAN	T	303	.	ENSP00000283632:I303T	I	+	2	0	RMND5A	86850710	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.040000	0.89188	2.241000	0.73720	0.533000	0.62120	ATT	-	NULL		0.458	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	protein_coding	OTTHUMT00000252591.2	T	NM_022780		86850710	+1	no_errors	NM_022780	genbank	human	validated	54_36p	missense	SNP	0.999	C
TUBB3	10381	genome.wustl.edu	37	16	90001993	90001993	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:90001993C>A	ENST00000315491.7	+	4	1257	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L	TUBB3_ENST00000556922.1_Missense_Mutation_p.F725L|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.F306L|TUBB3_ENST00000554444.1_Missense_Mutation_p.F306L	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	378					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	AGGAGCTGTTCAAGCGCATCT	0.632																																																0			16											133.0	121.0	125.0					16																	90001993		2198	4299	6497	88529494	SO:0001583	missense	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1134C>A	16.37:g.90001993C>A	ENSP00000320295:p.Phe378Leu		88529494	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C	p.F378L	ENST00000315491.7	37	c.1134	CCDS10988.1	16	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503223	0.64298	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000012	D	0.95959	0.8684	M	0.93978	3.48	0.58432	D	0.999996	P;D	0.89917	0.921;1.0	D;D	0.97110	0.947;1.0	D	0.97214	0.9873	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	378;378	Q13509;B2RBD5	TBB3_HUMAN;.	L	725;378;306;306;378	ENSP00000451560:F725L;ENSP00000302777:F306L;ENSP00000451617:F306L;ENSP00000320295:F378L	.	F	+	3	2	RP11-566K11.2;TUBB3	88529494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.600000	0.82769	2.313000	0.78055	0.561000	0.74099	TTC	-	superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C		0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	protein_coding	OTTHUMT00000272874.1	C	NM_006086		88529494	+1	no_errors	NM_006086	genbank	human	validated	54_36p	missense	SNP	1.000	A
GBP5	115362	genome.wustl.edu	37	1	89730537	89730537	+	Silent	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:89730537T>C	ENST00000370459.3	-	7	1108	c.981A>G	c.(979-981)caA>caG	p.Q327Q	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.Q327Q|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	327						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAATGGCCTTTTGCACTGCAG	0.562																																																0			1											100.0	87.0	91.0					1																	89730537		2203	4300	6503	89503125	SO:0001819	synonymous_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.981A>G	1.37:g.89730537T>C			89503125	B2RCE1|Q86TM5	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain	p.Q327	ENST00000370459.3	37	c.981	CCDS722.1	1																																																																																			-	HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain		0.562	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	protein_coding	OTTHUMT00000027700.1	T	NM_052942		89503125	-1	no_errors	NM_052942	genbank	human	validated	54_36p	silent	SNP	0.995	C
GBP6	163351	genome.wustl.edu	37	1	89834164	89834164	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:89834164T>G	ENST00000370456.4	+	2	147	c.54T>G	c.(52-54)aaT>aaG	p.N18K	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	18	GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAAATAACAATGAGCAGCTAT	0.468																																																0			1											128.0	122.0	124.0					1																	89834164		2203	4300	6503	89606752	SO:0001583	missense	163351			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.54T>G	1.37:g.89834164T>G	ENSP00000359485:p.Asn18Lys		89606752	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain	p.N18K	ENST00000370456.4	37	c.54	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489800	0.12702	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.74002	-0.8	4.46	-6.57	0.01842	Guanylate-binding protein, N-terminal (1);	0.394474	0.25091	N	0.033210	T	0.26919	0.0659	L	0.31476	0.935	0.09310	N	0.999998	B	0.11235	0.004	B	0.13407	0.009	T	0.20773	-1.0265	10	0.27785	T	0.31	-21.7844	2.3038	0.04169	0.2474:0.4094:0.1299:0.2133	.	18	Q6ZN66	GBP6_HUMAN	K	18	ENSP00000359485:N18K	ENSP00000359485:N18K	N	+	3	2	GBP6	89606752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.399000	0.00484	-1.544000	0.01721	-2.374000	0.00234	AAT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP		0.468	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	protein_coding	OTTHUMT00000028001.1	T	NM_198460		89606752	+1	no_errors	NM_198460	genbank	human	validated	54_36p	missense	SNP	0.000	G
PTEN	5728	genome.wustl.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:89692883C>T	ENST00000371953.3	+	5	1724	c.367C>T	c.(367-369)Cac>Tac	p.H123Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM020755	PTEN	M							140.0	129.0	132.0					10																	89692883		2203	4300	6503	89682863	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>T	10.37:g.89692883C>T	ENSP00000361021:p.His123Tyr		89682863	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.H123Y	ENST00000371953.3	37	c.367	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903384	0.92035	.	.	ENSG00000171862	ENST00000371953	D	0.99903	-7.67	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95932	0.8939	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	Y	123	ENSP00000361021:H123Y	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC	-	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89682863	+1	no_errors	NM_000314	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF644	84146	genome.wustl.edu	37	1	91403958	91403958	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:91403958G>T	ENST00000370440.1	-	3	3170	c.2953C>A	c.(2953-2955)Cat>Aat	p.H985N	ZNF644_ENST00000337393.5_Missense_Mutation_p.H985N|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	985					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGAAGATGCCCCCTGACA	0.423																																																0			1											119.0	105.0	110.0					1																	91403958		2202	4300	6502	91176546	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2953C>A	1.37:g.91403958G>T	ENSP00000359469:p.His985Asn		91176546	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.H985N	ENST00000370440.1	37	c.2953	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560782	0.65538	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52909	-0.8512	10	0.87932	D	0	-11.6864	19.888	0.96917	0.0:0.0:1.0:0.0	.	985	Q9H582	ZN644_HUMAN	N	985;985;557	ENSP00000359469:H985N;ENSP00000337008:H985N	ENSP00000337008:H985N	H	-	1	0	ZNF644	91176546	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.720000	0.93068	0.591000	0.81541	CAT	-	HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	protein_coding	OTTHUMT00000027846.2	G	NM_032186		91176546	-1	no_errors	NM_201269	genbank	human	validated	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	14	94832527	94832527	+	IGR	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr14:94832527G>A								SERPINA6 (42796 upstream) : SERPINA1 (10556 downstream)																							GTTGATGGAAGAGGCTTCTGA	0.468																																																0			14																																								93902280	SO:0001628	intergenic_variant	390502																															14.37:g.94832527G>A			93902280		Missense_Mutation	SNP	superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093	p.S167F		37	c.500		14																																																																																			-	superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093	0	0.468					SERPINA2			G			93902280	-1	no_start_codon	ENST00000238576	ensembl	human	known	54_36p	missense	SNP	0.003	A
TEKT4	150483	genome.wustl.edu	37	2	95537691	95537691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:95537691A>T	ENST00000295201.4	+	1	504	c.367A>T	c.(367-369)Aag>Tag	p.K123*	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Nonsense_Mutation_p.K123*	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	123					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCTGGCCCAGAAGCAACGGCT	0.662																																																0			2											18.0	16.0	17.0					2																	95537691		2190	4289	6479	94901418	SO:0001587	stop_gained	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.367A>T	2.37:g.95537691A>T	ENSP00000295201:p.Lys123*		94901418		Nonsense_Mutation	SNP	HMMPfam_Tektin	p.K123*	ENST00000295201.4	37	c.367	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	14.22	2.469386	0.43839	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	.	.	.	1.84	1.84	0.25277	.	0.217594	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6847	7.3255	0.26553	1.0:0.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000295201:K123X	K	+	1	0	TEKT4	94901418	0.951000	0.32395	0.975000	0.42487	0.061000	0.15899	2.538000	0.45710	0.839000	0.34971	0.374000	0.22700	AAG	-	HMMPfam_Tektin		0.662	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	protein_coding	OTTHUMT00000252777.1	A	NM_144705		94901418	+1	no_errors	NM_144705	genbank	human	provisional	54_36p	nonsense	SNP	0.997	T
STARD7-AS1	285033	genome.wustl.edu	37	2	96906294	96906294	+	RNA	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:96906294C>G	ENST00000446816.1	+	0	677																											CACCAGCGCCCTGCCTCAGGA	0.577																																																0			2											63.0	70.0	68.0					2																	96906294		2052	4223	6275	96270021			285033																															2.37:g.96906294C>G			96270021		Missense_Mutation	SNP	NULL	p.P78R	ENST00000446816.1	37	c.233		2																																																																																			-	NULL		0.577	AC012307.3-001	KNOWN	basic|exp_conf	antisense	LOC285033	processed_transcript	OTTHUMT00000338796.1	C			96270021	+1	no_errors	NM_001037228	genbank	human	predicted	54_36p	missense	SNP	0.003	G
TMEM127	55654	genome.wustl.edu	37	2	96919626	96919626	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:96919626C>G	ENST00000258439.3	-	4	893	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	TMEM127_ENST00000435268.1_Missense_Mutation_p.E129Q|TMEM127_ENST00000432959.1_Missense_Mutation_p.E213Q	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	213					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCTTCCATCTCTGAGAGCAGC	0.617																																																0			2											75.0	71.0	73.0					2																	96919626		2203	4300	6503	96283353	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.637G>C	2.37:g.96919626C>G	ENSP00000258439:p.Glu213Gln		96283353	D3DXH0	Missense_Mutation	SNP	NULL	p.E213Q	ENST00000258439.3	37	c.637	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784607	0.70222	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.96396	-4.0;-4.0;-3.16	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	N	0.14661	0.345	0.58432	D	0.999999	D	0.61697	0.99	P	0.56127	0.792	D	0.95883	0.8900	10	0.62326	D	0.03	-18.6659	18.8075	0.92043	0.0:1.0:0.0:0.0	.	213	O75204	TM127_HUMAN	Q	213;213;129	ENSP00000258439:E213Q;ENSP00000416660:E213Q;ENSP00000411810:E129Q	ENSP00000258439:E213Q	E	-	1	0	TMEM127	96283353	1.000000	0.71417	0.964000	0.40570	0.773000	0.43773	7.329000	0.79170	2.745000	0.94114	0.462000	0.41574	GAG	-	NULL		0.617	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM127	protein_coding	OTTHUMT00000252845.3	C	NM_017849		96283353	-1	no_errors	NM_017849	genbank	human	provisional	54_36p	missense	SNP	0.994	G
FAHD2B	151313	genome.wustl.edu	37	2	97749949	97749949	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:97749949G>T	ENST00000414820.1	-	7	1021	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	FAHD2B_ENST00000440566.2_Missense_Mutation_p.Q251K|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.Q251K			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	251							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						AATACCATCTGGTTGGTGTTG	0.537																																																0			2											119.0	114.0	116.0					2																	97749949		2203	4300	6503	97113676	SO:0001583	missense	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.751C>A	2.37:g.97749949G>T	ENSP00000410470:p.Gln251Lys		97113676	D3DXH7|Q8NDK1	Missense_Mutation	SNP	superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase	p.Q251K	ENST00000414820.1	37	c.751	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	g	10.12	1.263488	0.23136	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94280	-3.39;-3.39;-3.39	1.26	1.26	0.21427	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.33485	1.01	0.38733	D	0.953716	P	0.38223	0.623	B	0.37989	0.262	T	0.80986	-0.1137	10	0.25751	T	0.34	.	8.0482	0.30562	0.0:0.0:1.0:0.0	.	251	Q6P2I3	FAH2B_HUMAN	K	251	ENSP00000410470:Q251K;ENSP00000272610:Q251K;ENSP00000444599:Q251K	ENSP00000272610:Q251K	Q	-	1	0	FAHD2B	97113676	1.000000	0.71417	0.995000	0.50966	0.329000	0.28539	6.117000	0.71577	0.663000	0.31027	0.184000	0.17185	CAG	-	superfamily_Fumarylacetoacetase_C-rel,HMMPfam_FAA_hydrolase		0.537	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	protein_coding	OTTHUMT00000339482.1	G	NM_199336		97113676	-1	no_errors	NM_199336	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SLIT1	6585	genome.wustl.edu	37	10	98824589	98824589	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:98824589A>C	ENST00000266058.4	-	6	775	c.530T>G	c.(529-531)tTc>tGc	p.F177C	SLIT1_ENST00000371070.4_Missense_Mutation_p.F177C|SLIT1_ENST00000371041.3_Missense_Mutation_p.F177C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	177					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGAGCACGGAAGGCCCCTTC	0.567																																																0			10											179.0	161.0	167.0					10																	98824589		2203	4300	6503	98814579	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.530T>G	10.37:g.98824589A>C	ENSP00000266058:p.Phe177Cys		98814579	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1	p.F177C	ENST00000266058.4	37	c.530	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347155	0.82022	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.91760	0.5419	10	0.87932	D	0	.	14.3729	0.66854	1.0:0.0:0.0:0.0	.	177;177	E7EWQ8;O75093	.;SLIT1_HUMAN	C	177;177;153;177;160;153;177	ENSP00000266058:F177C;ENSP00000360109:F177C;ENSP00000315005:F160C;ENSP00000360080:F177C	ENSP00000266058:F177C	F	-	2	0	SLIT1	98814579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.087000	0.94110	2.051000	0.60960	0.402000	0.26972	TTC	-	superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	protein_coding	OTTHUMT00000049636.1	A	NM_003061		98814579	-1	no_errors	NM_003061	genbank	human	validated	54_36p	missense	SNP	1.000	C
LAPTM4B	55353	genome.wustl.edu	37	8	98865692	98865692	+	IGR	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:98865692A>G	ENST00000521545.2	+	0	915							Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			AGAGTTACATATAATGCTGGC	0.463																																																0			8																																								98934868	SO:0001628	intergenic_variant	0			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740		8.37:g.98865692A>G			98934868	Q3ZCV5|Q7L909|Q86VH8|Q9H060	RNA	SNP	-	NULL	ENST00000521545.2	37	NULL		8																																																																																			-	-		0.463	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	LOC100127982	protein_coding	OTTHUMT00000380016.2	A			98934868	-1	pseudogene	XR_039024	genbank	human	model	54_36p	rna	SNP	0.923	G
CNTN5	53942	genome.wustl.edu	37	11	99715986	99715986	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:99715986A>T	ENST00000524871.1	+	6	859	c.569A>T	c.(568-570)cAg>cTg	p.Q190L	CNTN5_ENST00000279463.3_Missense_Mutation_p.Q190L|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q116L|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q190L|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q190L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	190	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTACACTGCAGTTTGCCTGT	0.323																																																0			11											119.0	111.0	113.0					11																	99715986		1815	4081	5896	99221196	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.569A>T	11.37:g.99715986A>T	ENSP00000435637:p.Gln190Leu		99221196	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.Q190L	ENST00000524871.1	37	c.569	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588685	0.46110	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175045	0.51477	D	0.000084	T	0.39489	0.1080	L	0.56769	1.78	0.58432	D	0.999999	B;B;B	0.27416	0.178;0.039;0.178	B;B;B	0.28849	0.095;0.016;0.037	T	0.29088	-1.0023	10	0.72032	D	0.01	.	15.3151	0.74069	1.0:0.0:0.0:0.0	.	190;116;190	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	L	190;190;190;116;190	ENSP00000433575:Q190L;ENSP00000436185:Q190L;ENSP00000435637:Q190L;ENSP00000393229:Q116L;ENSP00000279463:Q190L	ENSP00000279463:Q190L	Q	+	2	0	CNTN5	99221196	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.977000	0.76141	2.216000	0.71823	0.528000	0.53228	CAG	-	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409		0.323	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	A	NM_014361		99221196	+1	no_errors	NM_014361	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TSPAN5	10098	genome.wustl.edu	37	4	99399947	99399947	+	Silent	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:99399947C>G	ENST00000305798.3	-	5	867	c.465G>C	c.(463-465)ggG>ggC	p.G155G	TSPAN5_ENST00000505184.1_Silent_p.G84G|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	155					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CTCCAAAAGCCCCACAGCACT	0.488																																																0			4											76.0	73.0	74.0					4																	99399947		2203	4300	6503	99618970	SO:0001819	synonymous_variant	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.465G>C	4.37:g.99399947C>G			99618970	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Silent	SNP	HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin	p.G155	ENST00000305798.3	37	c.465	CCDS3646.1	4																																																																																			-	HMMPfam_Tetraspannin,superfamily_Tetraspanin		0.488	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN5	protein_coding	OTTHUMT00000253641.2	C	NM_005723		99618970	-1	no_errors	NM_005723	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
AFF3	3899	genome.wustl.edu	37	2	100625390	100625390	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:100625390A>G	ENST00000409236.2	-	3	170	c.58T>C	c.(58-60)Tat>Cat	p.Y20H	AFF3_ENST00000356421.2_Missense_Mutation_p.Y45H|AFF3_ENST00000317233.4_Missense_Mutation_p.Y20H|AFF3_ENST00000409579.1_Missense_Mutation_p.Y45H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	20					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGGTTCATAGACACTGCAT	0.398																																																0			2											184.0	160.0	168.0					2																	100625390		2203	4300	6503	99991822	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.58T>C	2.37:g.100625390A>G	ENSP00000387207:p.Tyr20His		99991822	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	HMMPfam_AF-4	p.Y45H	ENST00000409236.2	37	c.133	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528650	0.64860	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445;ENST00000415384	T;T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.97	5.97	0.96955	.	0.255793	0.28031	N	0.016875	T	0.78052	0.4223	M	0.67397	2.05	0.33516	D	0.591802	P;P;P;P	0.51791	0.948;0.782;0.817;0.782	P;P;B;B	0.57425	0.82;0.519;0.426;0.389	D	0.85338	0.1094	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	174;174;20;45	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	H	20;45;45;20;20;174;45;20;20;20;20;20;97;174	ENSP00000317421:Y20H;ENSP00000348793:Y45H;ENSP00000386834:Y45H;ENSP00000387207:Y20H;ENSP00000406484:Y20H;ENSP00000396582:Y20H;ENSP00000399795:Y20H;ENSP00000411383:Y20H;ENSP00000395068:Y20H;ENSP00000393732:Y97H	ENSP00000317421:Y20H	Y	-	1	0	AFF3	99991822	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	5.226000	0.65299	2.288000	0.76882	0.533000	0.62120	TAT	-	HMMPfam_AF-4		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	protein_coding	OTTHUMT00000328982.3	A	NM_002285		99991822	-1	no_errors	NM_001025108	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MUC17	140453	genome.wustl.edu	37	7	100686157	100686157	+	Silent	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:100686157C>A	ENST00000306151.4	+	3	11524	c.11460C>A	c.(11458-11460)ctC>ctA	p.L3820L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3820	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGTCCTCATCAGCCCTA	0.493																																																0			7											97.0	86.0	90.0					7																	100686157		2203	4300	6503	100472877	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11460C>A	7.37:g.100686157C>A			100472877	O14761|Q685J2|Q8TDH7	Silent	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.L3820	ENST00000306151.4	37	c.11460	CCDS34711.1	7																																																																																			-	NULL		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100472877	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	silent	SNP	0.049	A
TGFBR1	7046	genome.wustl.edu	37	9	101900216	101900216	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:101900216G>C	ENST00000374994.4	+	4	767	c.650G>C	c.(649-651)gGa>gCa	p.G217A	TGFBR1_ENST00000374990.2_Missense_Mutation_p.G140A|TGFBR1_ENST00000550253.1_Missense_Mutation_p.G148A|TGFBR1_ENST00000552516.1_Missense_Mutation_p.G221A	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTCGATTTGGAGAAGTTTGG	0.403																																																0			9											144.0	143.0	143.0					9																	101900216		2203	4300	6503	100940037	SO:0001583	missense	7046				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.650G>C	9.37:g.101900216G>C	ENSP00000364133:p.Gly217Ala		100940037	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.G217A	ENST00000374994.4	37	c.650	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282105	0.80692	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90164	0.6926	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.982;0.998	D	0.91021	0.4857	9	.	.	.	.	18.3707	0.90406	0.0:0.0:1.0:0.0	.	140;217	P36897-3;P36897	.;TGFR1_HUMAN	A	217;217;140;221;71;148	ENSP00000364133:G217A;ENSP00000364129:G140A;ENSP00000447297:G221A;ENSP00000449028:G71A;ENSP00000450052:G148A	.	G	+	2	0	TGFBR1	100940037	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	9.810000	0.99221	2.642000	0.89623	0.650000	0.86243	GGA	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.403	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	protein_coding	OTTHUMT00000053390.3	G			100940037	+1	no_errors	NM_004612	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ZPLD1	131368	genome.wustl.edu	37	3	102196343	102196343	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:102196343G>A	ENST00000491959.1	+	18	2011	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ZPLD1_ENST00000306176.1_Missense_Mutation_p.G393R|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G377R			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	377						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTGATATCAGGAATGGTCAT	0.478																																																0			3											220.0	216.0	217.0					3																	102196343		2203	4300	6503	103679033	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1129G>A	3.37:g.102196343G>A	ENSP00000420265:p.Gly377Arg		103679033	Q49AS1|Q8WU36	Missense_Mutation	SNP	HMMPfam_Zona_pellucida,HMMSmart_ZP	p.G393R	ENST00000491959.1	37	c.1177		3	.	.	.	.	.	.	.	.	.	.	G	35	5.426401	0.96131	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81247	-1.45;-1.47;-1.45	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.982	D;P	0.70016	0.967;0.834	D	0.85748	0.1341	10	0.62326	D	0.03	-30.4146	20.4062	0.99009	0.0:0.0:1.0:0.0	.	393;377	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	R	377;393;377	ENSP00000420265:G377R;ENSP00000307801:G393R;ENSP00000418253:G377R	ENSP00000307801:G393R	G	+	1	0	ZPLD1	103679033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.028000	0.93712	2.831000	0.97527	0.655000	0.94253	GGA	-	NULL		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	protein_coding	OTTHUMT00000353984.1	G	NM_175056		103679033	+1	no_errors	NM_175056	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ALKBH8	91801	genome.wustl.edu	37	11	107423910	107423910	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:107423910G>T	ENST00000428149.2	-	5	670	c.519C>A	c.(517-519)caC>caA	p.H173Q	ALKBH8_ENST00000417449.2_Missense_Mutation_p.H176Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.H173Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.H173Q|ALKBH8_ENST00000530933.1_5'Flank	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	173					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTACTCTTCTGTGTTTTAAGG	0.308																																																0			11											123.0	112.0	116.0					11																	107423910		2200	4293	6493	106929120	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.519C>A	11.37:g.107423910G>T	ENSP00000415885:p.His173Gln		106929120	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	HMMPfam_DUF1891,PatternScan_RIBOSOMAL_L23	p.H173Q	ENST00000428149.2	37	c.519	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409856	0.62399	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.29142	2.99;1.58;2.99;2.99	5.52	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.71206	2.165	0.58432	D	0.999992	D	0.63046	0.992	D	0.63793	0.918	T	0.32640	-0.9899	10	0.38643	T	0.18	-3.4691	9.6146	0.39683	0.3956:0.0:0.6044:0.0	.	173	Q96BT7	ALKB8_HUMAN	Q	173;173;173;176	ENSP00000415885:H173Q;ENSP00000391225:H173Q;ENSP00000374219:H173Q;ENSP00000397673:H176Q	ENSP00000260318:H173Q	H	-	3	2	ALKBH8	106929120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.635000	0.37134	0.298000	0.22638	0.591000	0.81541	CAC	-	NULL		0.308	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	protein_coding	OTTHUMT00000347071.2	G	NM_138775		106929120	-1	no_errors	NM_138775	genbank	human	validated	54_36p	missense	SNP	1.000	T
TRPV4	59341	genome.wustl.edu	37	12	110234388	110234388	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:110234388T>C	ENST00000418703.2	-	6	1368	c.1274A>G	c.(1273-1275)gAc>gGc	p.D425G	TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.D425G|TRPV4_ENST00000541794.1_Missense_Mutation_p.D378G|TRPV4_ENST00000536838.1_Missense_Mutation_p.D391G|TRPV4_ENST00000392719.2_Missense_Mutation_p.D378G|TRPV4_ENST00000346520.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	425					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCACACGTGTCCAGGGAGGA	0.612																																																0			12											127.0	102.0	111.0					12																	110234388		2203	4300	6503	108718771	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1274A>G	12.37:g.110234388T>C	ENSP00000406191:p.Asp425Gly		108718771	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans	p.D425G	ENST00000418703.2	37	c.1274	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852670	0.71719	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000541794;ENST00000536838	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.06	5.06	0.68205	.	0.045494	0.85682	D	0.000000	D	0.95768	0.8623	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.96495	0.9367	10	0.87932	D	0	-23.7405	14.0184	0.64539	0.0:0.0:0.0:1.0	.	425;378;391	Q9HBA0;Q9HBA0-4;Q9HBA0-5	TRPV4_HUMAN;.;.	G	425;425;378;378;391	ENSP00000406191:D425G;ENSP00000261740:D425G;ENSP00000376480:D378G;ENSP00000442167:D378G;ENSP00000444336:D391G	ENSP00000261740:D425G	D	-	2	0	TRPV4	108718771	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.920000	0.87521	1.902000	0.55061	0.460000	0.39030	GAC	-	NULL		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	protein_coding	OTTHUMT00000403270.1	T	NM_021625		108718771	-1	no_errors	NM_021625	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
EBAG9	9166	genome.wustl.edu	37	8	110573097	110573097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:110573097G>T	ENST00000337573.5	+	6	760	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	EBAG9_ENST00000395785.2_Nonsense_Mutation_p.E154*|EBAG9_ENST00000531677.1_Nonsense_Mutation_p.E154*	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	154					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TACCTGGCAGGAAAATACCAA	0.388																																																0			8											110.0	103.0	105.0					8																	110573097		2203	4300	6503	110642273	SO:0001587	stop_gained	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.460G>T	8.37:g.110573097G>T	ENSP00000337675:p.Glu154*		110642273	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Nonsense_Mutation	SNP	NULL	p.E154*	ENST00000337573.5	37	c.460	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147121	0.57151	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.42	5.42	0.78866	.	0.135212	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.3163	18.5622	0.91104	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000337675:E154X	E	+	1	0	EBAG9	110642273	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.437000	0.97535	2.689000	0.91719	0.591000	0.81541	GAA	-	NULL		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	protein_coding	OTTHUMT00000383536.1	G	NM_004215		110642273	+1	no_errors	NM_004215	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
STARD4	134429	genome.wustl.edu	37	5	110835779	110835779	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:110835779C>A	ENST00000296632.3	-	6	557	c.423G>T	c.(421-423)aaG>aaT	p.K141N	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	141	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATTCTGGTCTCTTTTCATCCC	0.338																																																0			5											62.0	61.0	61.0					5																	110835779		2202	4300	6502	110863678	SO:0001583	missense	134429			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.423G>T	5.37:g.110835779C>A	ENSP00000296632:p.Lys141Asn		110863678	Q86TN9	Missense_Mutation	SNP	superfamily_SSF55961,HMMPfam_START	p.K141N	ENST00000296632.3	37	c.423	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	C	7.890	0.732021	0.15507	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.43294	0.95;0.95	5.69	4.82	0.62117	Lipid-binding START (2);START-like domain (1);	0.454958	0.24554	N	0.037540	T	0.26557	0.0649	N	0.22421	0.69	0.80722	D	1	B	0.27316	0.175	B	0.28465	0.09	T	0.08554	-1.0716	10	0.27785	T	0.31	-0.4055	6.696	0.23199	0.1447:0.7091:0.0:0.1462	.	141	Q96DR4	STAR4_HUMAN	N	141	ENSP00000296632:K141N;ENSP00000427478:K141N	ENSP00000296632:K141N	K	-	3	2	STARD4	110863678	0.851000	0.29673	1.000000	0.80357	0.998000	0.95712	0.582000	0.23834	1.405000	0.46838	0.655000	0.94253	AAG	-	superfamily_SSF55961,HMMPfam_START		0.338	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	protein_coding	OTTHUMT00000250720.1	C	NM_139164		110863678	-1	no_errors	NM_139164	genbank	human	provisional	54_36p	missense	SNP	0.947	A
SLC9C1	285335	genome.wustl.edu	37	3	111985132	111985132	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:111985132T>G	ENST00000305815.5	-	8	1083	c.831A>C	c.(829-831)ttA>ttC	p.L277F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L277F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	277					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTGTAGAATTTAAAAGAAGTC	0.279																																																0			3											65.0	73.0	70.0					3																	111985132		2202	4296	6498	113467822	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.831A>C	3.37:g.111985132T>G	ENSP00000306627:p.Leu277Phe		113467822	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	HMMPfam_Na_H_Exchanger,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_WD_REPEATS_1,superfamily_cAMP-binding domain-like,HMMPfam_cNMP_binding	p.L277F	ENST00000305815.5	37	c.831	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312750	0.40895	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.16073	2.37;2.37	5.04	3.86	0.44501	Cation/H+ exchanger (1);	0.000000	0.43416	D	0.000567	T	0.32823	0.0842	L	0.59436	1.845	0.31956	N	0.609014	D;D	0.89917	0.999;1.0	D;D	0.91635	0.988;0.999	T	0.32188	-0.9916	10	0.37606	T	0.19	-22.2864	8.266	0.31815	0.1768:0.0:0.0:0.8232	.	277;277	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	277	ENSP00000306627:L277F;ENSP00000420688:L277F	ENSP00000306627:L277F	L	-	3	2	SLC9A10	113467822	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	2.427000	0.44740	0.841000	0.35020	0.491000	0.48974	TTA	-	HMMPfam_Na_H_Exchanger		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A10	protein_coding	OTTHUMT00000354066.1	T	NM_183061		113467822	-1	no_errors	NM_183061	genbank	human	validated	54_36p	missense	SNP	1.000	G
KPNA5	3841	genome.wustl.edu	37	6	117046967	117046967	+	Silent	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:117046967A>C	ENST00000368564.1	+	11	1201	c.1053A>C	c.(1051-1053)ccA>ccC	p.P351P	KPNA5_ENST00000356348.1_Silent_p.P351P			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	348	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGAGTAGCCCAAAGGAGTCAA	0.358																																																0			6											74.0	73.0	73.0					6																	117046967		2202	4300	6502	117153660	SO:0001819	synonymous_variant	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1053A>C	6.37:g.117046967A>C			117153660	B2RAI5|Q86X23	Silent	SNP	HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.P351	ENST00000368564.1	37	c.1053	CCDS5111.1	6																																																																																			-	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185		0.358	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	protein_coding	OTTHUMT00000041967.1	A	NM_002269		117153660	+1	no_errors	NM_002269	genbank	human	reviewed	54_36p	silent	SNP	0.997	C
GPRC6A	222545	genome.wustl.edu	37	6	117113877	117113877	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr6:117113877G>T	ENST00000310357.3	-	6	2230	c.2209C>A	c.(2209-2211)Ccc>Acc	p.P737T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P666T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P562T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	737					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGACTCTGGGCAAGGAGACA	0.488																																																0			6											63.0	59.0	60.0					6																	117113877		2203	4300	6503	117220570	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2209C>A	6.37:g.117113877G>T	ENSP00000309493:p.Pro737Thr		117220570	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3	p.P737T	ENST00000310357.3	37	c.2209	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115879	0.56505	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87571	-2.27;-2.27;-2.27	4.37	4.37	0.52481	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000058	D	0.88009	0.6322	L	0.53249	1.67	0.38808	D	0.955353	D;P;D	0.65815	0.995;0.849;0.975	D;P;P	0.63488	0.915;0.555;0.772	D	0.85261	0.1050	10	0.20046	T	0.44	.	17.0959	0.86635	0.0:0.0:1.0:0.0	.	666;562;737	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	T	737;666;562	ENSP00000309493:P737T;ENSP00000357537:P666T;ENSP00000433465:P562T	ENSP00000309493:P737T	P	-	1	0	GPRC6A	117220570	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.991000	0.49409	2.270000	0.75569	0.591000	0.81541	CCC	-	HMMPfam_7tm_3		0.488	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	G			117220570	-1	no_errors	NM_148963	genbank	human	validated	54_36p	missense	SNP	0.954	T
BCL9L	283149	genome.wustl.edu	37	11	118772370	118772370	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:118772370G>C	ENST00000334801.3	-	6	3046	c.2082C>G	c.(2080-2082)ccC>ccG	p.P694P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	694	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCATGCCCAGGGGGCGCTGCA	0.657																																																0			11											42.0	43.0	43.0					11																	118772370		2198	4293	6491	118277580	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2082C>G	11.37:g.118772370G>C			118277580	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	PatternScan_RIBOSOMAL_S6E	p.P694	ENST00000334801.3	37	c.2082	CCDS8403.1	11																																																																																			-	NULL		0.657	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	G	NM_182557		118277580	-1	no_errors	NM_182557	genbank	human	validated	54_36p	silent	SNP	0.087	C
USP2	9099	genome.wustl.edu	37	11	119228300	119228300	+	Splice_Site	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:119228300T>C	ENST00000260187.2	-	11	1796	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R	USP2_ENST00000455332.2_Splice_Site_p.H258R|USP2_ENST00000525735.1_Splice_Site_p.H292R	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	501	Necessary for interaction with MDM4.|USP.			H -> R (in Ref. 3; BAB71388). {ECO:0000305}.	cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ccgctTCAGATCTGGCATTGA	0.483																																																0			11											71.0	74.0	73.0					11																	119228300		2199	4295	6494	118733510	SO:0001630	splice_region_variant	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1502-1A>G	11.37:g.119228300T>C			118733510	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.H501R	ENST00000260187.2	37	c.1502	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898364	0.72639	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.03801	3.8;3.8;3.8	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.098369	0.64402	D	0.000001	T	0.37544	0.1007	H	0.99026	4.405	0.80722	D	1	B;D;D	0.76494	0.295;0.998;0.999	B;D;D	0.68483	0.171;0.958;0.928	T	0.62501	-0.6841	10	0.87932	D	0	.	14.949	0.71057	0.0:0.0:0.0:1.0	.	258;501;292	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	R	258;501;248;292	ENSP00000407842:H258R;ENSP00000260187:H501R;ENSP00000436952:H292R	ENSP00000260187:H501R	H	-	2	0	USP2	118733510	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.829000	0.86735	2.135000	0.66039	0.533000	0.62120	CAT	-	superfamily_Cysteine proteinases,HMMPfam_UCH		0.483	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	protein_coding	OTTHUMT00000388361.2	T	NM_171997	Missense_Mutation	118733510	-1	no_errors	NM_004205	genbank	human	validated	54_36p	missense	SNP	1.000	C
HNF1A	6927	genome.wustl.edu	37	12	121434120	121434120	+	Silent	SNP	C	C	T	rs549471872		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:121434120C>T	ENST00000257555.6	+	5	1237	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	HNF1A_ENST00000541395.1_Silent_p.S337S|HNF1A_ENST00000402929.1_Silent_p.S337S|HNF1A_ENST00000400024.2_Silent_p.S337S|HNF1A_ENST00000544413.1_Silent_p.S337S|HNF1A_ENST00000543427.1_Silent_p.S220S|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	337					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCAAGCAGCGGCGGTCCCT	0.622									Hepatic Adenoma, Familial Clustering of				c|||	1	0.000199681	0.0008	0.0	5008	,	,		18990	0.0		0.0	False		,,,				2504	0.0															0			12											152.0	112.0	126.0					12																	121434120		2203	4300	6503	119918503	SO:0001819	synonymous_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1011C>T	12.37:g.121434120C>T			119918503	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C	p.S337	ENST00000257555.6	37	c.1011	CCDS9209.1	12																																																																																			-	HMMPfam_HNF-1B_C		0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	protein_coding	OTTHUMT00000320957.5	C	NM_000545		119918503	+1	no_errors	NM_000545	genbank	human	reviewed	54_36p	silent	SNP	0.095	T
PUS3	83480	genome.wustl.edu	37	11	125765802	125765802	+	Splice_Site	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr11:125765802C>G	ENST00000530811.1	-	1	423	c.378G>C	c.(376-378)caG>caC	p.Q126H	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Splice_Site_p.Q126H|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	126					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGGCCCTTACCTGTCCAAAGG	0.413																																																0			11											263.0	246.0	252.0					11																	125765802		2201	4299	6500	125271012	SO:0001630	splice_region_variant	83480			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.378+1G>C	11.37:g.125765802C>G			125271012	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1	p.Q126H	ENST00000530811.1	37	c.378	CCDS8466.1	11	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644346	0.67244	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158	T;T;T	0.60040	0.22;0.22;0.22	6.17	6.17	0.99709	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89592	0.3828	9	.	.	.	-9.0028	20.8794	0.99867	0.0:1.0:0.0:0.0	.	126	Q9BZE2	PUS3_HUMAN	H	126	ENSP00000227474:Q126H;ENSP00000432386:Q126H;ENSP00000432272:Q126H	.	Q	-	3	2	PUS3	125271012	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.357000	0.59436	2.941000	0.99782	0.655000	0.94253	CAG	-	superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_1		0.413	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS3	protein_coding	OTTHUMT00000386783.1	C	NM_031307	Missense_Mutation	125271012	-1	no_errors	NM_031307	genbank	human	validated	54_36p	missense	SNP	1.000	G
RBM28	55131	genome.wustl.edu	37	7	127965904	127965904	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:127965904C>G	ENST00000223073.2	-	11	1284	c.1170G>C	c.(1168-1170)caG>caC	p.Q390H	RBM28_ENST00000415472.2_Missense_Mutation_p.Q249H	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	390	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GAAGGCATTTCTGAGCTGCTT	0.453																																																0			7											62.0	57.0	58.0					7																	127965904		2203	4300	6503	127753140	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1170G>C	7.37:g.127965904C>G	ENSP00000223073:p.Gln390His		127753140	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1	p.Q390H	ENST00000223073.2	37	c.1170	CCDS5801.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967221	0.74131	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.17054	2.3;2.3	6.17	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111897	0.64402	D	0.000007	T	0.37945	0.1022	M	0.67700	2.07	0.37105	D	0.900096	D;D;D	0.71674	0.99;0.998;0.99	D;D;D	0.83275	0.95;0.996;0.95	T	0.39881	-0.9592	10	0.59425	D	0.04	-22.6556	11.0453	0.47855	0.0:0.851:0.0:0.149	.	249;390;249	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	H	390;249	ENSP00000223073:Q390H;ENSP00000390517:Q249H	ENSP00000223073:Q390H	Q	-	3	2	RBM28	127753140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.599000	0.24089	0.955000	0.37878	0.655000	0.94253	CAG	-	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1		0.453	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	protein_coding	OTTHUMT00000349442.2	C	NM_018077		127753140	-1	no_errors	NM_018077	genbank	human	validated	54_36p	missense	SNP	1.000	G
KCNQ3	3786	genome.wustl.edu	37	8	133187850	133187850	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:133187850G>C	ENST00000388996.4	-	5	1203	c.783C>G	c.(781-783)ctC>ctG	p.L261L	KCNQ3_ENST00000521134.1_Silent_p.L141L|KCNQ3_ENST00000519445.1_Silent_p.L261L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	261					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGCCGTGATGAGTTCCTGAA	0.493																																																0			8											80.0	79.0	79.0					8																	133187850		2203	4300	6503	133257032	SO:0001819	synonymous_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.783C>G	8.37:g.133187850G>C			133257032	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel	p.L261	ENST00000388996.4	37	c.783	CCDS34943.1	8																																																																																			-	superfamily_SSF81324,HMMPfam_Ion_trans		0.493	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	protein_coding	OTTHUMT00000268621.2	G	NM_004519		133257032	-1	no_errors	NM_004519	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
SARDH	1757	genome.wustl.edu	37	9	136561478	136561478	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr9:136561478C>G	ENST00000371872.4	-	14	1931	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.K558N|SARDH_ENST00000422262.2_Missense_Mutation_p.K390N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	558					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCACTCCTTCTTGATCTGAA	0.587																																																0			9											64.0	63.0	63.0					9																	136561478		2203	4300	6503	135551299	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1674G>C	9.37:g.136561478C>G	ENSP00000360938:p.Lys558Asn		135551299	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	superfamily_SSF51905,HMMPfam_DAO,superfamily_SSF54373,superfamily_SSF103025,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_SSF101790	p.K558N	ENST00000371872.4	37	c.1674	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	C	12.20	1.868040	0.32977	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.83419	-1.72;-1.72;-1.72	5.25	5.25	0.73442	.	0.516914	0.20204	N	0.097031	T	0.68137	0.2968	N	0.05124	-0.11	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.66412	-0.5930	10	0.66056	D	0.02	-20.1981	12.8623	0.57920	0.0:0.9203:0.0:0.0797	.	558	Q9UL12	SARDH_HUMAN	N	558;558;390;558	ENSP00000360938:K558N;ENSP00000403084:K558N;ENSP00000415537:K390N	ENSP00000360938:K558N	K	-	3	2	SARDH	135551299	0.703000	0.27826	0.962000	0.40283	0.711000	0.40976	3.037000	0.49775	2.410000	0.81850	0.655000	0.94253	AAG	-	superfamily_SSF103025		0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	C			135551299	-1	no_errors	NM_007101	genbank	human	reviewed	54_36p	missense	SNP	0.983	G
Unknown	0	genome.wustl.edu	37	7	138089053	138089053	+	IGR	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:138089053C>T								SNORA51 (216178 upstream) : Y_RNA (11171 downstream)																							CCAtcctcttcttcaccgtca	0.532																																																0			7																																								137739593	SO:0001628	intergenic_variant	442727																															7.37:g.138089053C>T			137739593		RNA	SNP	-	NULL		37	NULL		7																																																																																			-	-	0	0.532					LOC442727			C			137739593	-1	pseudogene	XR_017503	genbank	human	model	54_36p	rna	SNP	0.987	T
Unknown	0	genome.wustl.edu	37	7	138089197	138089197	+	IGR	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:138089197C>A								SNORA51 (216322 upstream) : Y_RNA (11027 downstream)																							CCGCCTCTTCCACAACTTCCT	0.532																																																0			7																																								137739737	SO:0001628	intergenic_variant	442727																															7.37:g.138089197C>A			137739737		RNA	SNP	-	NULL		37	NULL		7																																																																																			-	-	0	0.532					LOC442727			C			137739737	-1	pseudogene	XR_017503	genbank	human	model	54_36p	rna	SNP	0.998	A
PCDHGC3	5098	genome.wustl.edu	37	5	140857199	140857199	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:140857199G>C	ENST00000308177.3	+	1	1620	c.1516G>C	c.(1516-1518)Gtg>Ctg	p.V506L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGGGCTAGTGGGTCGCTA	0.498																																																0			5											54.0	60.0	58.0					5																	140857199		2203	4300	6503	140837383	SO:0001583	missense	5098			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1516G>C	5.37:g.140857199G>C	ENSP00000312070:p.Val506Leu		140837383	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.V506L	ENST00000308177.3	37	c.1516	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283763	0.10458	.	.	ENSG00000240184	ENST00000308177	T	0.50001	0.76	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34193	0.0889	N	0.05592	-0.015	0.28101	N	0.931401	P;P	0.48503	0.911;0.649	P;B	0.49752	0.621;0.269	T	0.09885	-1.0654	9	0.02654	T	1	.	15.7284	0.77780	0.0:0.0:0.8632:0.1368	.	506;506	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	L	506	ENSP00000312070:V506L	ENSP00000312070:V506L	V	+	1	0	PCDHGC3	140837383	0.172000	0.23043	0.868000	0.34077	0.507000	0.33981	2.926000	0.48892	2.884000	0.98904	0.655000	0.94253	GTG	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.498	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	protein_coding	OTTHUMT00000251808.2	G	NM_002588		140837383	+1	no_errors	NM_002588	genbank	human	reviewed	54_36p	missense	SNP	0.990	C
MAGEC2	51438	genome.wustl.edu	37	X	141291397	141291397	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chrX:141291397G>C	ENST00000247452.3	-	3	724	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	126					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTGACAGGTGCCTGTATC	0.532										HNSCC(46;0.14)																																						0			X											88.0	87.0	87.0					X																	141291397		2203	4300	6503	141119063	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.377C>G	X.37:g.141291397G>C	ENSP00000354660:p.Thr126Ser		141119063	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	HMMPfam_MAGE	p.T126S	ENST00000247452.3	37	c.377	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	1.003	-0.690260	0.03303	.	.	ENSG00000046774	ENST00000247452	T	0.03663	3.85	0.861	-0.103	0.13609	Melanoma associated antigen, MAGE, N-terminal (1);	2582.640000	0.00447	N	0.000096	T	0.03564	0.0102	N	0.17082	0.46	0.09310	N	1	B	0.28470	0.213	B	0.37989	0.262	T	0.41052	-0.9530	10	0.19590	T	0.45	.	3.0977	0.06315	0.351:0.0:0.649:0.0	.	126	Q9UBF1	MAGC2_HUMAN	S	126	ENSP00000354660:T126S	ENSP00000354660:T126S	T	-	2	0	MAGEC2	141119063	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.415000	0.21181	-0.087000	0.12528	0.458000	0.33432	ACC	-	NULL		0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	protein_coding	OTTHUMT00000058611.1	G	NM_016249		141119063	-1	no_errors	NM_016249	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
PTK2	5747	genome.wustl.edu	37	8	141762085	141762085	+	Intron	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr8:141762085G>T	ENST00000522684.1	-	17	1647				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000520151.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGTGTAATGGCCTAAGTACC	0.398																																																0			8											29.0	26.0	27.0					8																	141762085		876	1991	2867	141831267	SO:0001627	intron_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1417+245C>A	8.37:g.141762085G>T			141831267	B4E2N6|F5H4S4|Q14291|Q9UD85	Nonsense_Mutation	SNP	superfamily_FERM_3-hlx,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_FERM_2,HMMPfam_Focal_AT,superfamily_Focal_AT	p.C287*	ENST00000522684.1	37	c.861	CCDS6381.1	8	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803545	0.31869	.	.	ENSG00000169398	ENST00000342207	.	.	.	3.91	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.4591	0.44567	0.0:0.3811:0.6189:0.0	.	.	.	.	X	291	.	ENSP00000342839:C291X	C	-	3	2	PTK2	141831267	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.430000	0.06973	0.588000	0.29660	0.650000	0.86243	TGC	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.398	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	protein_coding	OTTHUMT00000378054.5	G	NM_005607		141831267	-1	no_errors	ENST00000395214	ensembl	human	known	54_36p	nonsense	SNP	0.000	T
PLSCR1	5359	genome.wustl.edu	37	3	146251284	146251284	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:146251284G>C	ENST00000342435.4	-	3	477	c.67C>G	c.(67-69)Cct>Gct	p.P23A	PLSCR1_ENST00000448787.2_Silent_p.L14L|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P16A	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	23	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGATACTGAGGAGGATACCCA	0.403																																																0			3											112.0	113.0	112.0					3																	146251284		2203	4300	6503	147733974	SO:0001583	missense	5359			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.67C>G	3.37:g.146251284G>C	ENSP00000345494:p.Pro23Ala		147733974	B2R8H8|B4DTE8	Missense_Mutation	SNP	HMMPfam_Scramblase	p.P23A	ENST00000342435.4	37	c.67	CCDS3135.1	3	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902175	0.33628	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.24908	2.17;2.17;2.17;1.83	3.58	2.7	0.31948	.	.	.	.	.	T	0.27241	0.0668	M	0.67397	2.05	0.20307	N	0.999917	P;P	0.44139	0.827;0.58	B;B	0.41510	0.359;0.096	T	0.15954	-1.0419	9	0.59425	D	0.04	.	6.6428	0.22919	0.1275:0.0:0.8725:0.0	.	23;23	Q8WVK1;O15162	.;PLS1_HUMAN	A	23;16;23;23	ENSP00000345494:P23A;ENSP00000417792:P16A;ENSP00000418103:P23A;ENSP00000420523:P23A	ENSP00000345494:P23A	P	-	1	0	PLSCR1	147733974	0.507000	0.26146	0.009000	0.14445	0.033000	0.12548	2.143000	0.42187	1.090000	0.41315	0.650000	0.86243	CCT	-	NULL		0.403	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	protein_coding	OTTHUMT00000355257.2	G	NM_021105		147733974	-1	no_errors	NM_021105	genbank	human	validated	54_36p	missense	SNP	0.004	C
SSPO	23145	genome.wustl.edu	37	7	149519262	149519262	+	RNA	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:149519262G>T	ENST00000378016.2	+	0	13066							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACACCCAGGGCTGCTACTC	0.597																																																0			7											38.0	42.0	41.0					7																	149519262		1929	4124	6053	149150195			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519262G>T			149150195	Q76B61	Missense_Mutation	SNP	superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_Cysrich_TIL,PatternScan_GLYCO_HORMONE_BETA_1	p.G19C	ENST00000378016.2	37	c.55		7																																																																																			-	NULL		0.597	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		G			149150195	+1	no_errors	ENST00000378016	ensembl	human	known	54_36p	missense	SNP	0.998	T
PI4KB	5298	genome.wustl.edu	37	1	151278826	151278826	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:151278826A>C	ENST00000368873.1	-	5	1364	c.1196T>G	c.(1195-1197)aTt>aGt	p.I399S	PI4KB_ENST00000529142.1_Missense_Mutation_p.I67S|PI4KB_ENST00000368872.1_Missense_Mutation_p.I384S|PI4KB_ENST00000368875.2_Missense_Mutation_p.I411S|PI4KB_ENST00000368874.4_Missense_Mutation_p.I384S|PI4KB_ENST00000271657.5_Missense_Mutation_p.I411S			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	399					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCCACATAAATCAGGTAGGG	0.493																																					Colon(154;765 1838 9854 28443 37492)											0			1											46.0	44.0	45.0					1																	151278826		2203	4300	6503	149545450	SO:0001583	missense	5298			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1196T>G	1.37:g.151278826A>C	ENSP00000357867:p.Ile399Ser		149545450	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.I411S	ENST00000368873.1	37	c.1232		1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685414	0.88639	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	D;D;D;D;D;D;T;T	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;1.85;1.85	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.095327	0.64402	D	0.000001	D	0.89022	0.6597	M	0.77616	2.38	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.991	D;D;P	0.71414	0.961;0.973;0.828	D	0.90702	0.4621	10	0.87932	D	0	-17.1984	14.9271	0.70887	1.0:0.0:0.0:0.0	.	399;384;67	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	S	384;411;411;399;67;384;67;67	ENSP00000357868:I384S;ENSP00000357869:I411S;ENSP00000271657:I411S;ENSP00000357867:I399S;ENSP00000433149:I67S;ENSP00000357866:I384S;ENSP00000413599:I67S;ENSP00000431501:I67S	ENSP00000271657:I411S	I	-	2	0	PI4KB	149545450	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.852000	0.92215	2.197000	0.70478	0.528000	0.53228	ATT	-	NULL		0.493	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	protein_coding	OTTHUMT00000034400.3	A	NM_002651		149545450	-1	no_errors	NM_002651	genbank	human	provisional	54_36p	missense	SNP	1.000	C
AOC1	26	genome.wustl.edu	37	7	150555958	150555958	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:150555958T>A	ENST00000493429.1	+	5	2262	c.1678T>A	c.(1678-1680)Tcc>Acc	p.S560T	AOC1_ENST00000416793.2_Missense_Mutation_p.S560T|AOC1_ENST00000467291.1_Missense_Mutation_p.S560T|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.S560T			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	560					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GACGCAGTACTCCTGGGAGCG	0.592																																																0			7											29.0	33.0	32.0					7																	150555958		1980	4165	6145	150186891	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1678T>A	7.37:g.150555958T>A	ENSP00000418614:p.Ser560Thr		150186891	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	superfamily_Amine oxidase N-terminal region,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2	p.S560T	ENST00000493429.1	37	c.1678	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	T	1.959	-0.439280	0.04636	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	5.57	-6.94	0.01633	Copper amine oxidase, C-terminal (3);	1.413890	0.03680	N	0.245342	T	0.03178	0.0093	L	0.33339	1.005	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.17433	0.018;0.006	T	0.42932	-0.9422	10	0.21014	T	0.42	-33.5783	8.3714	0.32417	0.1093:0.6411:0.1107:0.139	.	560;560	C9J690;P19801	.;ABP1_HUMAN	T	560;560;560;86;560;436	ENSP00000418614:S560T;ENSP00000418328:S560T;ENSP00000354193:S560T;ENSP00000411613:S560T	ENSP00000354193:S560T	S	+	1	0	ABP1	150186891	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.846000	0.04336	-1.120000	0.02953	-0.366000	0.07423	TCC	-	superfamily_Amine oxidase catalytic domain,HMMPfam_Cu_amine_oxid		0.592	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	protein_coding	OTTHUMT00000350628.1	T	NM_001091		150186891	+1	no_errors	NM_001091	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
ZBTB7B	51043	genome.wustl.edu	37	1	154987672	154987672	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:154987672A>G	ENST00000368426.3	+	3	673	c.536A>G	c.(535-537)gAc>gGc	p.D179G	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D179G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D213G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D179G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	179					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AATGGTGAAGACAGTCCTCCA	0.652																																																0			1											43.0	44.0	44.0					1																	154987672		2202	4297	6499	153254296	SO:0001583	missense	51043			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.536A>G	1.37:g.154987672A>G	ENSP00000357411:p.Asp179Gly		153254296	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_zf-C2H2	p.D179G	ENST00000368426.3	37	c.536	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162563	0.38217	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09350	3.02;3.02;2.99;3.02	4.09	4.09	0.47781	.	0.618193	0.15530	N	0.257527	T	0.02267	0.0070	N	0.24115	0.695	0.30057	N	0.811271	P;P;P	0.38504	0.634;0.634;0.634	B;B;B	0.32393	0.145;0.145;0.145	T	0.43734	-0.9373	10	0.22109	T	0.4	.	11.0415	0.47833	1.0:0.0:0.0:0.0	.	179;179;213	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	G	179;179;213;179	ENSP00000438647:D179G;ENSP00000357411:D179G;ENSP00000406286:D213G;ENSP00000292176:D179G	ENSP00000292176:D179G	D	+	2	0	ZBTB7B	153254296	0.893000	0.30496	1.000000	0.80357	0.745000	0.42441	1.909000	0.39917	1.709000	0.51313	0.379000	0.24179	GAC	-	NULL		0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	protein_coding	OTTHUMT00000091083.1	A	NM_015872		153254296	+1	no_errors	NM_015872	genbank	human	validated	54_36p	missense	SNP	0.917	G
ARHGEF2	9181	genome.wustl.edu	37	1	155931921	155931921	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:155931921G>A	ENST00000361247.4	-	10	1293	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	ARHGEF2_ENST00000313667.4_Silent_p.I397I|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Silent_p.I443I|ARHGEF2_ENST00000368316.1_Silent_p.I370I|ARHGEF2_ENST00000313695.7_Silent_p.I370I|ARHGEF2_ENST00000368315.4_Silent_p.I399I	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	398	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGCGGCTGATGAGTAACG	0.627																																					Melanoma(178;35 2768 6610 28839)											0			1											71.0	73.0	72.0					1																	155931921		2203	4300	6503	154198545	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1194C>T	1.37:g.155931921G>A			154198545	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,superfamily_PH domain-like,HMMSmart_SM00233	p.I370	ENST00000361247.4	37	c.1110	CCDS53376.1	1																																																																																			-	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325		0.627	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	protein_coding	OTTHUMT00000046204.2	G	NM_004723		154198545	-1	no_errors	NM_004723	genbank	human	reviewed	54_36p	silent	SNP	0.426	A
UBE3C	9690	genome.wustl.edu	37	7	157015955	157015955	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr7:157015955G>C	ENST00000348165.5	+	16	2370	c.2010G>C	c.(2008-2010)ttG>ttC	p.L670F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	670					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TAGTGGGTTTGGAGTCCCCGC	0.428																																																0			7											154.0	146.0	149.0					7																	157015955		2203	4300	6503	156708716	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2010G>C	7.37:g.157015955G>C	ENSP00000309198:p.Leu670Phe		156708716	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.L670F	ENST00000348165.5	37	c.2010	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868952	0.32977	.	.	ENSG00000009335	ENST00000348165	T	0.46063	0.88	5.08	4.2	0.49525	.	0.142453	0.47852	D	0.000216	T	0.29256	0.0728	N	0.22421	0.69	0.80722	D	1	B;B	0.32010	0.351;0.241	B;B	0.28784	0.094;0.061	T	0.10177	-1.0641	10	0.52906	T	0.07	.	13.2663	0.60135	0.0774:0.0:0.9226:0.0	.	670;523	Q15386;B4DHJ9	UBE3C_HUMAN;.	F	670	ENSP00000309198:L670F	ENSP00000309198:L670F	L	+	3	2	UBE3C	156708716	1.000000	0.71417	0.969000	0.41365	0.879000	0.50718	2.303000	0.43646	1.130000	0.42092	0.585000	0.79938	TTG	-	NULL		0.428	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	G	NM_014671		156708716	+1	no_errors	NM_014671	genbank	human	validated	54_36p	missense	SNP	0.998	C
GMPS	8833	genome.wustl.edu	37	3	155623950	155623950	+	Splice_Site	SNP	G	G	T	rs371139266		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:155623950G>T	ENST00000496455.2	+	5	759	c.424G>T	c.(424-426)Ggc>Tgc	p.G142C	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Splice_Site_p.G43C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	142	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TATGTTTAGGGGCCTTCAGAA	0.353			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0			3											136.0	131.0	133.0					3																	155623950		1821	4071	5892	157106644	SO:0001630	splice_region_variant	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.423-1G>T	3.37:g.155623950G>T			157106644	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_ExsB,HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain	p.G142C	ENST00000496455.2	37	c.424	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957159	0.73902	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	D;D	0.91843	-2.92;-2.92	5.89	3.05	0.35203	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.053515	0.85682	D	0.000000	D	0.96632	0.8901	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95802	0.8834	10	0.87932	D	0	-4.799	8.8259	0.35054	0.1299:0.0:0.7472:0.1229	.	43;142	F8W720;P49915	.;GUAA_HUMAN	C	142;43;91;142	ENSP00000419851:G142C;ENSP00000295920:G43C	ENSP00000295920:G43C	G	+	1	0	GMPS	157106644	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.277000	0.72608	0.828000	0.34709	0.557000	0.71058	GGC	-	superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase		0.353	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	protein_coding	OTTHUMT00000351260.2	G		Missense_Mutation	157106644	+1	no_errors	NM_003875	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
AIM2	9447	genome.wustl.edu	37	1	159033332	159033332	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:159033332G>T	ENST00000368130.4	-	5	1237	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	317	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTTGACAGTGTGAAGAAT	0.428																																																0			1											253.0	238.0	243.0					1																	159033332		2203	4300	6503	157299956	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.949C>A	1.37:g.159033332G>T	ENSP00000357112:p.Leu317Met		157299956	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN	p.L317M	ENST00000368130.4	37	c.949	CCDS1181.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285608	0.40394	.	.	ENSG00000163568	ENST00000368130	T	0.32515	1.45	3.92	0.777	0.18538	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.394162	0.14939	N	0.289652	T	0.33614	0.0869	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.07809	-1.0753	10	0.72032	D	0.01	-3.0372	5.8011	0.18414	0.1148:0.3927:0.4925:0.0	.	317	O14862	AIM2_HUMAN	M	317	ENSP00000357112:L317M	ENSP00000357112:L317M	L	-	1	2	AIM2	157299956	0.001000	0.12720	0.004000	0.12327	0.028000	0.11728	-0.032000	0.12266	0.049000	0.15920	0.561000	0.74099	CTG	-	HMMPfam_HIN		0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	protein_coding	OTTHUMT00000090341.1	G	NM_004833		157299956	-1	no_errors	NM_004833	genbank	human	reviewed	54_36p	missense	SNP	0.009	T
ACVR1	90	genome.wustl.edu	37	2	158634675	158634675	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:158634675T>A	ENST00000263640.3	-	5	940	c.511A>T	c.(511-513)Atc>Ttc	p.I171F	ACVR1_ENST00000434821.1_Missense_Mutation_p.I171F|ACVR1_ENST00000410057.2_Missense_Mutation_p.I171F|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.I171F	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	171					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGGTGGTGATGAGCCCTTCG	0.498																																																0			2											150.0	129.0	136.0					2																	158634675		2203	4300	6503	158342921	SO:0001583	missense	90				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.511A>T	2.37:g.158634675T>A	ENSP00000263640:p.Ile171Phe		158342921		Missense_Mutation	SNP	HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I171F	ENST00000263640.3	37	c.511	CCDS2206.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206462	0.79127	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	L	0.27053	0.805	0.80722	D	1	P	0.43826	0.818	B	0.43194	0.411	T	0.75709	-0.3223	10	0.09338	T	0.73	.	16.0893	0.81082	0.0:0.0:0.0:1.0	.	171	Q04771	ACVR1_HUMAN	F	171	ENSP00000263640:I171F;ENSP00000387273:I171F;ENSP00000405004:I171F;ENSP00000387127:I171F	ENSP00000263640:I171F	I	-	1	0	ACVR1	158342921	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.013000	0.88655	2.279000	0.76181	0.533000	0.62120	ATC	-	NULL		0.498	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	protein_coding	OTTHUMT00000254927.1	T	NM_001105		158342921	-1	no_errors	NM_001105	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ATP1A4	480	genome.wustl.edu	37	1	160151550	160151550	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:160151550C>T	ENST00000368081.4	+	19	3284	c.2813C>T	c.(2812-2814)gCg>gTg	p.A938V	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A74V	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	938					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCAGTGGGCGGATCTCATC	0.522																																																0			1											184.0	184.0	184.0					1																	160151550		2203	4300	6503	158418174	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2813C>T	1.37:g.160151550C>T	ENSP00000357060:p.Ala938Val		158418174	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C	p.A938V	ENST00000368081.4	37	c.2813	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798254	0.50208	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.95885	-3.84;-3.84	4.04	3.1	0.35709	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.116715	0.56097	D	0.000029	D	0.96614	0.8895	M	0.89658	3.05	0.47905	D	0.999547	D	0.76494	0.999	D	0.64237	0.923	D	0.96073	0.9047	10	0.87932	D	0	.	6.9896	0.24748	0.1997:0.6068:0.1936:0.0	.	938	Q13733	AT1A4_HUMAN	V	938;74	ENSP00000357060:A938V;ENSP00000433094:A74V	ENSP00000357060:A938V	A	+	2	0	ATP1A4	158418174	0.998000	0.40836	0.998000	0.56505	0.203000	0.24098	3.749000	0.55150	1.005000	0.39183	0.455000	0.32223	GCG	-	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_C		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	protein_coding	OTTHUMT00000077415.1	C	NM_144699		158418174	+1	no_errors	NM_144699	genbank	human	reviewed	54_36p	missense	SNP	0.992	T
VEPH1	79674	genome.wustl.edu	37	3	156979052	156979052	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:156979052G>A	ENST00000362010.2	-	14	2680	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.F746F|VEPH1_ENST00000543418.1_Silent_p.F746F|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F791F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	791	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TATTGTCTGTGAAGATTTCGA	0.507																																																0			3											101.0	97.0	98.0					3																	156979052		2203	4300	6503	158461746	SO:0001819	synonymous_variant	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2373C>T	3.37:g.156979052G>A			158461746	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.F791	ENST00000362010.2	37	c.2373	CCDS3179.1	3																																																																																			-	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233		0.507	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	protein_coding	OTTHUMT00000351845.3	G	NM_024621		158461746	-1	no_errors	NM_024621	genbank	human	provisional	54_36p	silent	SNP	1.000	A
IFT80	57560	genome.wustl.edu	37	3	159997077	159997077	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:159997077C>T	ENST00000326448.7	-	16	2172	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	IFT80_ENST00000496589.1_Silent_p.L443L|RP11-432B6.3_ENST00000483754.1_Silent_p.L751L|IFT80_ENST00000483465.1_Silent_p.L443L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	580					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATGTGAACCAGGGAGCCAT	0.363																																																0			3											94.0	95.0	95.0					3																	159997077		2203	4300	6503	161479771	SO:0001819	synonymous_variant	57560			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1740G>A	3.37:g.159997077C>T			161479771	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,superfamily_Cyt_cd1_haem_C	p.L580	ENST00000326448.7	37	c.1740	CCDS3188.1	3																																																																																			-	NULL		0.363	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	protein_coding	OTTHUMT00000352651.2	C	NM_020800		161479771	-1	no_errors	NM_020800	genbank	human	validated	54_36p	silent	SNP	0.998	T
TENM2	57451	genome.wustl.edu	37	5	167474474	167474474	+	Missense_Mutation	SNP	A	A	G	rs114898031	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr5:167474474A>G	ENST00000518659.1	+	6	1268	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	TENM2_ENST00000403607.2_Missense_Mutation_p.D243G|TENM2_ENST00000545108.1_Missense_Mutation_p.D410G|TENM2_ENST00000519204.1_Missense_Mutation_p.D289G|TENM2_ENST00000520394.1_Intron	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	410					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGCCTGCAGATGGGCACACC	0.463											OREG0017008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	26	0.00519169	0.0008	0.0101	5008	,	,		20998	0.0		0.0159	False		,,,				2504	0.002															0			5						A	GLY/ASP	7,1377		0,7,685	106.0	88.0	93.0		1229	5.7	1.0	5	dbSNP_132	93	77,3105		1,75,1515	yes	missense	ODZ2	NM_001122679.1	94	1,82,2200	GG,GA,AA		2.4199,0.5058,1.8397	possibly-damaging	410/2766	167474474	84,4482	692	1591	2283	167407052	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1229A>G	5.37:g.167474474A>G	ENSP00000429430:p.Asp410Gly	1862	167407052	Q9ULU2	Missense_Mutation	SNP	HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat	p.D410G	ENST00000518659.1	37	c.1229		5	13	0.005952380952380952	0	0.0	4	0.011049723756906077	0	0.0	9	0.011873350923482849	A	16.21	3.058451	0.55325	0.005058	0.024199	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000403607	D;D;D;D	0.89415	-2.04;-2.03;-2.14;-2.51	5.67	5.67	0.87782	.	0.175663	0.46442	D	0.000281	T	0.79076	0.4385	L	0.34521	1.04	0.48236	D	0.999615	P;P	0.48640	0.858;0.913	B;P	0.47044	0.334;0.535	D	0.85154	0.0988	10	0.72032	D	0.01	.	15.5819	0.76448	1.0:0.0:0.0:0.0	.	410;289	Q9NT68;G3V106	TEN2_HUMAN;.	G	410;410;289;243	ENSP00000429430:D410G;ENSP00000438635:D410G;ENSP00000428964:D289G;ENSP00000384905:D243G	ENSP00000384905:D243G	D	+	2	0	ODZ2	167407052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.131000	0.71670	2.164000	0.68074	0.533000	0.62120	GAT	-	NULL		0.463	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	protein_coding	OTTHUMT00000376096.1	A	NM_001122679		167407052	+1	no_errors	ENST00000388903	ensembl	human	known	54_36p	missense	SNP	1.000	G
SLC9C2	284525	genome.wustl.edu	37	1	173545851	173545851	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:173545851A>C	ENST00000367714.3	-	8	1273	c.851T>G	c.(850-852)cTg>cGg	p.L284R	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L182R	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	284					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATCTAAATTCAGTCCTACAGC	0.368																																																0			1											71.0	71.0	71.0					1																	173545851		2203	4300	6503	171812474	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.851T>G	1.37:g.173545851A>C	ENSP00000356687:p.Leu284Arg		171812474	Q86UF3	Missense_Mutation	SNP	PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Na_H_Exchanger,HMMPfam_Ion_trans,HMMSmart_cNMP,superfamily_cNMP_binding,HMMPfam_cNMP_binding	p.L284R	ENST00000367714.3	37	c.851	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916669	0.73098	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.16457	2.34;2.34	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.000000	0.43579	D	0.000555	T	0.27731	0.0682	M	0.65498	2.005	0.31234	N	0.695925	D	0.89917	1.0	D	0.97110	1.0	T	0.14090	-1.0485	10	0.87932	D	0	-19.2667	11.9977	0.53212	1.0:0.0:0.0:0.0	.	284	Q5TAH2	S9A11_HUMAN	R	284;182	ENSP00000356687:L284R;ENSP00000445437:L182R	ENSP00000356687:L284R	L	-	2	0	SLC9A11	171812474	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.102000	0.57776	2.081000	0.62600	0.533000	0.62120	CTG	-	HMMPfam_Na_H_Exchanger		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A11	protein_coding	OTTHUMT00000084205.1	A	NM_178527		171812474	-1	no_errors	NM_178527	genbank	human	validated	54_36p	missense	SNP	0.994	C
PLD1	5337	genome.wustl.edu	37	3	171394522	171394522	+	Missense_Mutation	SNP	G	G	C	rs201247680		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:171394522G>C	ENST00000351298.4	-	18	2224	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	PLD1_ENST00000340989.4_Missense_Mutation_p.R700G|PLD1_ENST00000342215.6_Missense_Mutation_p.S590R|PLD1_ENST00000356327.5_Missense_Mutation_p.R662G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	700	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAGTTCCAGCGCTGGATGAAG	0.522																																					NSCLC(149;2174 3517 34058)											0			3											98.0	92.0	94.0					3																	171394522		2203	4300	6503	172877216	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2098C>G	3.37:g.171394522G>C	ENSP00000342793:p.Arg700Gly		172877216		Missense_Mutation	SNP	HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155	p.R700G	ENST00000351298.4	37	c.2098	CCDS3216.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943033|4.943033	0.92526|0.92526	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000342215	T;T;T|T	0.24538|0.34472	1.85;1.85;1.85|1.36	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73674|0.73674	0.3617|0.3617	H|H	0.95151|0.95151	3.63|3.63	0.45554|0.45554	D|D	0.9985|0.9985	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.993;0.988;0.988|.	T|T	0.81127|0.81127	-0.1074|-0.1074	10|7	0.62326|0.72032	D|D	0.03|0.01	-17.4801|-17.4801	20.089|20.089	0.97809|0.97809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	662;685;700|.	Q13393-2;Q59EA4;Q13393|.	.;.;PLD1_HUMAN|.	G|R	662;700;700|590	ENSP00000348681:R662G;ENSP00000342793:R700G;ENSP00000340326:R700G|ENSP00000339936:S590R	ENSP00000340326:R700G|ENSP00000339936:S590R	R|S	-|-	1|3	0|2	PLD1|PLD1	172877216|172877216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.903000|7.903000	0.87398|0.87398	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CGC|AGC	-	superfamily_Phospholipase D/nuclease		0.522	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	G	NM_002662		172877216	-1	no_errors	NM_002662	genbank	human	validated	54_36p	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179594390	179594390	+	Splice_Site	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:179594390C>A	ENST00000591111.1	-	61	17863		c.e61+1		TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site			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)			CATTCACGAACCTTTCACTTT	0.458																																																0			2											126.0	122.0	123.0					2																	179594390		1932	4150	6082	179302635	SO:0001630	splice_region_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.17638+1G>T	2.37:g.179594390C>A			179302635	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	Splice_Site	SNP	-	e59+1	ENST00000591111.1	37	c.14857+1		2	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826573	0.50739	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179302635	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	7.456000	0.80751	2.941000	0.99782	0.655000	0.94253	.	-	-		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	Intron	179302635	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	splice_site	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181745305	181745305	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:181745305G>C	ENST00000367573.2	+	38	5208	c.5208G>C	c.(5206-5208)ctG>ctC	p.L1736L	CACNA1E_ENST00000367570.1_Silent_p.L1736L|CACNA1E_ENST00000358338.5_Silent_p.L1668L|CACNA1E_ENST00000367567.4_Silent_p.L1343L|CACNA1E_ENST00000360108.3_Silent_p.L1717L|CACNA1E_ENST00000526775.1_Silent_p.L1717L|CACNA1E_ENST00000357570.5_Silent_p.L1687L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1736					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTCCATCCTGGGGCCTCACC	0.607																																																0			1											155.0	158.0	157.0					1																	181745305		1992	4190	6182	180011928	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5208G>C	1.37:g.181745305G>C			180011928	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.L1736	ENST00000367573.2	37	c.5208	CCDS55664.1	1																																																																																			-	superfamily_Voltage-gated potassium channels		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	G	NM_000721		180011928	+1	no_errors	NM_000721	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
STOX2	56977	genome.wustl.edu	37	4	184932025	184932025	+	Silent	SNP	A	A	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr4:184932025A>C	ENST00000308497.4	+	3	3469	c.2034A>C	c.(2032-2034)ggA>ggC	p.G678G	STOX2_ENST00000438269.1_Silent_p.G678G	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	678					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCGCCAACGGACGCCTCGTCC	0.597																																																0			4											20.0	24.0	23.0					4																	184932025		1975	4131	6106	185169019	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2034A>C	4.37:g.184932025A>C			185169019	A6H8U4|Q9NPS8	Silent	SNP	HMMPfam_Stork_head	p.G678	ENST00000308497.4	37	c.2034	CCDS47167.1	4																																																																																			-	NULL		0.597	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	protein_coding	OTTHUMT00000361433.3	A	NM_020225		185169019	+1	no_errors	NM_020225	genbank	human	provisional	54_36p	silent	SNP	0.810	C
EIF2B5	8893	genome.wustl.edu	37	3	183860027	183860027	+	Silent	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr3:183860027G>C	ENST00000273783.3	+	9	1427	c.1305G>C	c.(1303-1305)gtG>gtC	p.V435V	EIF2B5_ENST00000444495.1_Silent_p.V435V	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	435					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)			CCCCTTAGGTGGTCGTGGGCC	0.463																																																0			3											80.0	70.0	73.0					3																	183860027		2203	4300	6503	185342721	SO:0001819	synonymous_variant	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.1305G>C	3.37:g.183860027G>C			185342721	Q541Z1|Q96D04	Silent	SNP	superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2	p.V435	ENST00000273783.3	37	c.1305	CCDS3252.1	3																																																																																			-	superfamily_Trimer_LpxA_like,HMMPfam_Hexapep		0.463	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	protein_coding	OTTHUMT00000346168.1	G			185342721	+1	no_errors	NM_003907	genbank	human	validated	54_36p	silent	SNP	1.000	C
ZSWIM2	151112	genome.wustl.edu	37	2	187697873	187697873	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:187697873C>G	ENST00000295131.2	-	7	954	c.915G>C	c.(913-915)aaG>aaC	p.K305N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	305					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AATGTGACATCTTTTCTTCAA	0.284																																																0			2											110.0	105.0	107.0					2																	187697873		2198	4294	6492	187406118	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.915G>C	2.37:g.187697873C>G	ENSP00000295131:p.Lys305Asn		187406118	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	HMMPfam_SWIM,superfamily_SSF57850,HMMSmart_RING,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_zf-C3HC4	p.K305N	ENST00000295131.2	37	c.915	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019810	0.19355	.	.	ENSG00000163012	ENST00000295131	T	0.23754	1.89	5.44	1.26	0.21427	.	0.491076	0.18995	N	0.125518	T	0.16471	0.0396	L	0.34521	1.04	0.09310	N	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.17899	-1.0354	10	0.35671	T	0.21	-0.254	7.1743	0.25736	0.429:0.4913:0.0:0.0797	.	305	Q8NEG5	ZSWM2_HUMAN	N	305	ENSP00000295131:K305N	ENSP00000295131:K305N	K	-	3	2	ZSWIM2	187406118	0.023000	0.18921	0.042000	0.18584	0.976000	0.68499	-0.021000	0.12504	0.231000	0.21079	0.585000	0.79938	AAG	-	NULL		0.284	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	protein_coding	OTTHUMT00000334565.1	C	NM_182521		187406118	-1	no_errors	NM_182521	genbank	human	validated	54_36p	missense	SNP	0.730	G
Unknown	0	genome.wustl.edu	37	2	188690983	188690983	+	IGR	SNP	G	G	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:188690983G>C								AC068718.2 (83582 upstream) : AC068718.1 (401563 downstream)																							GGCATACCAGGAGTGGCCAGA	0.507																																																0			2																																								188399228	SO:0001628	intergenic_variant	344328																															2.37:g.188690983G>C			188399228		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.507					LOC344328			G			188399228	+1	pseudogene	XR_017370	genbank	human	model	54_36p	rna	SNP	0.994	C
MYO1B	4430	genome.wustl.edu	37	2	192228571	192228571	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:192228571C>A	ENST00000392318.3	+	10	1130	c.883C>A	c.(883-885)Cta>Ata	p.L295I	MYO1B_ENST00000392316.1_Missense_Mutation_p.L295I|MYO1B_ENST00000339514.4_Missense_Mutation_p.L295I|MYO1B_ENST00000304164.4_Missense_Mutation_p.L295I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	295	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGTGAATGGTCTAGATGAAAG	0.423																																																0			2											120.0	111.0	114.0					2																	192228571		2203	4300	6503	191936816	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.883C>A	2.37:g.192228571C>A	ENSP00000376132:p.Leu295Ile		191936816	O43794|Q7Z6L5	Missense_Mutation	SNP	HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_TH1	p.L295I	ENST00000392318.3	37	c.883	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	4.433	0.080037	0.08533	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.12;-2.22	5.92	0.957	0.19613	Myosin head, motor domain (2);	0.379543	0.28062	N	0.016749	T	0.69753	0.3146	N	0.05467	-0.045	0.31417	N	0.674774	B;B	0.09022	0.002;0.001	B;B	0.16722	0.016;0.008	T	0.59198	-0.7499	10	0.12766	T	0.61	.	9.6452	0.39863	0.0:0.3559:0.0:0.6441	.	295;295	O43795;O43795-2	MYO1B_HUMAN;.	I	295	ENSP00000341903:L295I;ENSP00000376132:L295I;ENSP00000306382:L295I;ENSP00000388140:L295I;ENSP00000376130:L295I	ENSP00000306382:L295I	L	+	1	2	MYO1B	191936816	0.226000	0.23696	0.257000	0.24404	0.758000	0.43043	0.604000	0.24164	0.144000	0.18951	-0.781000	0.03364	CTA	-	HMMSmart_MYSc,superfamily_SSF52540,HMMPfam_Myosin_head		0.423	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	protein_coding	OTTHUMT00000334774.1	C	NM_012223		191936816	+1	no_errors	NM_012223	genbank	human	validated	54_36p	missense	SNP	0.178	A
DNAH7	56171	genome.wustl.edu	37	2	196698950	196698950	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:196698950C>T	ENST00000312428.6	-	48	9180	c.9080G>A	c.(9079-9081)tGc>tAc	p.C3027Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3027	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACTGGATGCAATTTTCCAG	0.373																																																0			2											108.0	101.0	104.0					2																	196698950		1881	4098	5979	196407195	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9080G>A	2.37:g.196698950C>T	ENSP00000311273:p.Cys3027Tyr		196407195	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT	p.C3027Y	ENST00000312428.6	37	c.9080	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361758	0.82353	.	.	ENSG00000118997	ENST00000312428	T	0.21543	2.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.91406	3.205	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.66496	-0.5909	10	0.87932	D	0	.	19.0618	0.93096	0.0:1.0:0.0:0.0	.	3027	Q8WXX0	DYH7_HUMAN	Y	3027	ENSP00000311273:C3027Y	ENSP00000311273:C3027Y	C	-	2	0	DNAH7	196407195	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	5.924000	0.70054	2.794000	0.96219	0.650000	0.86243	TGC	-	NULL		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897		196407195	-1	no_errors	NM_018897	genbank	human	validated	54_36p	missense	SNP	1.000	T
IRF6	3664	genome.wustl.edu	37	1	209969762	209969762	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:209969762G>A	ENST00000367021.3	-	4	482	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	IRF6_ENST00000542854.1_Missense_Mutation_p.P9S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	104					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGTTCATGGGCACCTCCTTG	0.552										HNSCC(57;0.16)																																						0			1											125.0	112.0	116.0					1																	209969762		2203	4300	6503	208036385	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.310C>T	1.37:g.209969762G>A	ENSP00000355988:p.Pro104Ser		208036385	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3	p.P104S	ENST00000367021.3	37	c.310	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988038	0.93106	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.99671	-4.51;-6.35;-4.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	L	0.54908	1.71	0.80722	D	1	D	0.60575	0.988	D	0.69824	0.966	D	0.99712	1.1007	9	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	104	O14896	IRF6_HUMAN	S	104;9;104	ENSP00000355988:P104S;ENSP00000440532:P9S;ENSP00000403855:P104S	.	P	-	1	0	IRF6	208036385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.247000	0.95444	2.652000	0.90054	0.655000	0.94253	CCC	-	HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785		0.552	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	protein_coding	OTTHUMT00000088827.1	G	NM_006147		208036385	-1	no_errors	NM_006147	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CENPF	1063	genome.wustl.edu	37	1	214813866	214813866	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:214813866A>T	ENST00000366955.3	+	12	2353	c.2185A>T	c.(2185-2187)Act>Tct	p.T729S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCTCAGCTTACTGGGCAAGT	0.398																																					Colon(80;575 1284 11000 14801 43496)											0			1											67.0	68.0	68.0					1																	214813866		2203	4300	6503	212880489	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2185A>T	1.37:g.214813866A>T	ENSP00000355922:p.Thr729Ser		212880489	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F	p.T729S	ENST00000366955.3	37	c.2185	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249825	0.39797	.	.	ENSG00000117724	ENST00000366955	T	0.03635	3.86	5.81	4.65	0.58169	.	0.000000	0.39210	N	0.001421	T	0.10035	0.0246	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.21348	-1.0248	9	0.32370	T	0.25	.	4.809	0.13333	0.7183:0.0:0.1409:0.1408	.	729	P49454	CENPF_HUMAN	S	729	ENSP00000355922:T729S	ENSP00000355922:T729S	T	+	1	0	CENPF	212880489	0.002000	0.14202	0.433000	0.26760	0.997000	0.91878	1.677000	0.37576	0.973000	0.38340	0.496000	0.49642	ACT	-	NULL		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	A	NM_016343		212880489	+1	no_errors	NM_016343	genbank	human	reviewed	54_36p	missense	SNP	0.004	T
CXCR2	3579	genome.wustl.edu	37	2	219000288	219000288	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:219000288C>T	ENST00000318507.2	+	3	1191	c.764C>T	c.(763-765)gCt>gTt	p.A255V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	255					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTCATCTTTGCTGTCGTCCTC	0.597																																																0			2											161.0	155.0	157.0					2																	219000288		2203	4300	6503	218708533	SO:0001583	missense	3579			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.764C>T	2.37:g.219000288C>T	ENSP00000319635:p.Ala255Val		218708533	Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A255V	ENST00000318507.2	37	c.764	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748860	0.69533	.	.	ENSG00000180871	ENST00000318507	T	0.33654	1.4	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.188443	0.45867	N	0.000322	T	0.37625	0.1010	L	0.48174	1.505	0.28468	N	0.915575	P	0.44195	0.828	P	0.48524	0.58	T	0.32640	-0.9899	9	.	.	.	.	8.3649	0.32380	0.0:0.8314:0.0:0.1686	.	255	P25025	CXCR2_HUMAN	V	255	ENSP00000319635:A255V	.	A	+	2	0	CXCR2	218708533	0.993000	0.37304	0.957000	0.39632	0.860000	0.49131	3.099000	0.50267	2.529000	0.85273	0.456000	0.33151	GCT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.597	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL8RB	protein_coding	OTTHUMT00000256772.2	C	NM_001557		218708533	+1	no_errors	NM_001557	genbank	human	reviewed	54_36p	missense	SNP	0.311	T
SLC11A1	6556	genome.wustl.edu	37	2	219247736	219247736	+	Missense_Mutation	SNP	C	C	T	rs145961681|rs373316233	byFrequency	TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:219247736C>T	ENST00000233202.6	+	2	401	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	21	Pro/Ser-rich.				activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTccagcccgaccagccc	0.607																																																0			2											75.0	61.0	66.0					2																	219247736		2203	4300	6503	218955980	SO:0001583	missense	6556			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.61C>T	2.37:g.219247736C>T	ENSP00000233202:p.Pro21Ser		218955980	C0H5Y3	Missense_Mutation	SNP	HMMPfam_Nramp	p.P21S	ENST00000233202.6	37	c.61	CCDS2415.1	2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725984	0.30593	.	.	ENSG00000018280	ENST00000233202	T	0.15834	2.39	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.14485	0.0350	L	0.35487	1.065	0.80722	D	1	P;P;P	0.48350	0.909;0.909;0.909	P;P;P	0.50440	0.641;0.641;0.641	T	0.13791	-1.0496	8	0.06494	T	0.89	-2.0335	.	.	.	.	21;21;21	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	S	21	ENSP00000233202:P21S	ENSP00000233202:P21S	P	+	1	0	SLC11A1	218955980	0.547000	0.26465	0.992000	0.48379	0.363000	0.29612	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	CCG	-	NULL		0.607	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	protein_coding	OTTHUMT00000195076.2	C	NM_000578		218955980	+1	no_errors	NM_000578	genbank	human	reviewed	54_36p	missense	SNP	0.956	T
NUP133	55746	genome.wustl.edu	37	1	229622190	229622190	+	Silent	SNP	C	C	T			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:229622190C>T	ENST00000261396.3	-	11	1519	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	NUP133_ENST00000537506.1_Silent_p.R460R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	476					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACATTTTCCCTTGAAGTAA	0.398																																																0			1											108.0	110.0	109.0					1																	229622190		2203	4300	6503	227688813	SO:0001819	synonymous_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1428G>A	1.37:g.229622190C>T			227688813	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	HMMPfam_Nup133_N,HMMPfam_Nup133	p.R476	ENST00000261396.3	37	c.1428	CCDS1579.1	1																																																																																			-	HMMPfam_Nup133_N		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	protein_coding	OTTHUMT00000095224.1	C	NM_018230		227688813	-1	no_errors	NM_018230	genbank	human	reviewed	54_36p	silent	SNP	0.997	T
SLC35F3	148641	genome.wustl.edu	37	1	234367197	234367197	+	Silent	SNP	G	G	A			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:234367197G>A	ENST00000366617.3	+	2	339	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SLC35F3_ENST00000366618.3_Silent_p.A106A			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736																																																0			1											11.0	15.0	13.0					1																	234367197		2146	4169	6315	232433820	SO:0001819	synonymous_variant	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.111G>A	1.37:g.234367197G>A			232433820	Q5TDD6|Q8N9C9	Silent	SNP	superfamily_SSF103481,HMMPfam_DUF6	p.A106	ENST00000366617.3	37	c.318		1																																																																																			-	NULL		0.736	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	protein_coding	OTTHUMT00000128322.1	G	NM_173508		232433820	+1	no_errors	NM_173508	genbank	human	provisional	54_36p	silent	SNP	0.949	A
LYST	1130	genome.wustl.edu	37	1	235929573	235929573	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr1:235929573T>C	ENST00000389794.3	-	21	6101	c.5927A>G	c.(5926-5928)tAc>tGc	p.Y1976C	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Y1976C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1976					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCCCTCTTTGTATTCCTGAAA	0.323																																																0			1											72.0	81.0	78.0					1																	235929573		2203	4300	6503	233996196	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5927A>G	1.37:g.235929573T>C	ENSP00000374444:p.Tyr1976Cys		233996196	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	PatternScan_COPPER_BLUE,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.Y1976C	ENST00000389794.3	37	c.5927	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552509	0.45487	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61510	0.1;0.1	4.91	4.91	0.64330	.	0.158997	0.56097	D	0.000024	T	0.37812	0.1017	N	0.08118	0	0.80722	D	1	B	0.27316	0.175	B	0.13407	0.009	T	0.38693	-0.9649	10	0.87932	D	0	.	14.8314	0.70151	0.0:0.0:0.0:1.0	.	1976	Q99698	LYST_HUMAN	C	1976	ENSP00000374444:Y1976C;ENSP00000374443:Y1976C	ENSP00000374443:Y1976C	Y	-	2	0	LYST	233996196	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.772000	0.85439	1.956000	0.56807	0.477000	0.44152	TAC	-	NULL		0.323	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	T			233996196	-1	no_errors	NM_000081	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CREBBP	1387	genome.wustl.edu	37	16	3795268	3795281	+	Splice_Site	DEL	AACAACTCACCCTG	AACAACTCACCCTG	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	AACAACTCACCCTG	AACAACTCACCCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:3795268_3795281delAACAACTCACCCTG	ENST00000262367.5	-	22	4720_4724	c.3911_3915delCAGGGTGAGTTGTT	c.(3910-3915)tcaggg>t	p.SG1304fs	CREBBP_ENST00000382070.3_Splice_Site_p.SG1266fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1304	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCCAGGGGAAACAACTCACCCTGAAGGCCAAAT	0.514			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16																																								3735282	SO:0001630	splice_region_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3914+1CAGGGTGAGTTGTT>-	16.37:g.3795268_3795281delAACAACTCACCCTG			3735269	D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	DEL	-	e23-1	ENST00000262367.5	37	c.3914+5_3914+1	CCDS10509.1	16																																																																																			(deletion:intron[3734964,3735278], cds_exon[3735279,3735356])	-		0.514	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	AACAACTCACCCTG	NM_004380	Frame_Shift_Del	3735282	-1	no_errors	NM_004380	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.159:0.074:0.007:0.005:0.512:0.998:0.999:0.999:1.000:1.000:1.000:1.000:0.992:1.000	-
APOB	338	genome.wustl.edu	37	2	21263864	21263875	+	In_Frame_Del	DEL	TTGCCCTCAGGG	TTGCCCTCAGGG	-	rs371662800|rs150182638		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	TTGCCCTCAGGG	TTGCCCTCAGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:21263864_21263875delTTGCCCTCAGGG	ENST00000233242.1	-	4	445_456	c.318_329delCCCTGAGGGCAA	c.(316-330)aaccctgagggcaaa>aaa	p.NPEG106del	APOB_ENST00000399256.4_In_Frame_Del_p.NPEG106del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	106	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCAAGGCTTTGCCCTCAGGGTTGAAGCCAT	0.528																																																0			2																																								21117380	SO:0001651	inframe_deletion	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.318_329delCCCTGAGGGCAA	2.37:g.21263864_21263875delTTGCCCTCAGGG	ENSP00000233242:p.Asn106_Gly109del		21117369	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081	p.NPEG106in_frame_del	ENST00000233242.1	37	c.329_318	CCDS1703.1	2																																																																																			(deletion:cds_exon[21117315,21117460])	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638		0.528	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	TTGCCCTCAGGG			21117380	-1	no_errors	NM_000384	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.880:0.874:0.869:0.975:0.973:0.675:0.650:0.618:0.104:0.124:0.134:0.509	-
CYTH4	27128	genome.wustl.edu	37	22	37699341	37699346	+	In_Frame_Del	DEL	CCTCCA	CCTCCA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	CCTCCA	CCTCCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr22:37699341_37699346delCCTCCA	ENST00000248901.6	+	8	781_786	c.594_599delCCTCCA	c.(592-600)agcctccac>agc	p.LH199del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	199	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCAACACCAGCCTCCACAATCCCAAC	0.612																																																0			22																																								36029292	SO:0001651	inframe_deletion	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.594_599delCCTCCA	22.37:g.37699341_37699346delCCTCCA	ENSP00000248901:p.Leu199_His200del		36029287	Q5R3F9|Q9UGT6	In_Frame_Del	DEL	superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.LH199in_frame_del	ENST00000248901.6	37	c.594_599	CCDS13946.1	22																																																																																			(deletion:cds_exon[36029241,36029389])	superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH4	protein_coding	OTTHUMT00000318917.1	CCTCCA			36029292	+1	no_errors	NM_013385	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.996:1.000:1.000	-
COL1A1	1277	genome.wustl.edu	37	17	48273315	48273332	+	In_Frame_Del	DEL	GGACCAGCGGGGCCGGTG	GGACCAGCGGGGCCGGTG	-	rs193922137|rs543735501|rs200750214|rs66664580		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GGACCAGCGGGGCCGGTG	GGACCAGCGGGGCCGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:48273315_48273332delGGACCAGCGGGGCCGGTG	ENST00000225964.5	-	16	1126_1143	c.1008_1025delCACCGGCCCCGCTGGTCC	c.(1006-1026)cccaccggccccgctggtcct>cct	p.336_342PTGPAGP>P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	336	Triple-helical region.		G -> C (in OI4). {ECO:0000269|PubMed:16786509}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.T337S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTG	0.583			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - Missense(1)	liver(1)	17	GRCh37	CM062526|CM070686	COL1A1	M	rs66664580																																			45628331	SO:0001651	inframe_deletion	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1008_1025delCACCGGCCCCGCTGGTCC	17.37:g.48273315_48273332delGGACCAGCGGGGCCGGTG	ENSP00000225964:p.Pro336_Gly341del	953	45628314	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	In_Frame_Del	DEL	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.TGPAGP337in_frame_del	ENST00000225964.5	37	c.1025_1008	CCDS11561.1	17																																																																																			(deletion:cds_exon[45628283,45628336])	HMMPfam_Collagen		0.583	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	GGACCAGCGGGGCCGGTG			45628331	-1	no_errors	NM_000088	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000	-
PCNT	5116	genome.wustl.edu	37	21	47746311	47746312	+	Frame_Shift_Ins	INS	-	-	AAAC	rs201723088		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr21:47746311_47746312insAAAC	ENST00000359568.5	+	2	182_183	c.75_76insAAAC	c.(76-78)aaafs	p.-26fs	PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397685.4_5'Flank|C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397682.3_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCGACAGAGAAAAACAAAAGG	0.465																																																0			21																																								46570740	SO:0001589	frameshift_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	Exception_encountered	21.37:g.47746311_47746312insAAAC	ENSP00000352572:p.Lys26fs		46570739	O43152|Q7Z7C9	Frame_Shift_Ins	INS	HMMPfam_PACT_coil_coil	p.T26fs	ENST00000359568.5	37	c.75_76	CCDS33592.1	21																																																																																			-	NULL		0.465	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	-	NM_006031		46570740	+1	no_errors	NM_006031	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	AAAC
LOC146880	146880	genome.wustl.edu	37	17	62746853	62746870	+	RNA	DEL	GCCCAGATGGTCACCCAA	GCCCAGATGGTCACCCAA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GCCCAGATGGTCACCCAA	GCCCAGATGGTCACCCAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr17:62746853_62746870delGCCCAGATGGTCACCCAA	ENST00000400873.3	-	0	2385					NR_026899.1																						TATGGAATTGGCCCAGATGGTCACCCAAGCCATGTGGT	0.541																																																0			17																																								60177332			0																															17.37:g.62746853_62746870delGCCCAGATGGTCACCCAA			60177315		In_Frame_Del	DEL	NULL	p.WVTIWA35in_frame_del	ENST00000400873.3	37	c.119_102		17																																																																																			(deletion:cds_exon[60177174,60177433])	NULL		0.541	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	LOC100129674	processed_transcript		GCCCAGATGGTCACCCAA			60177332	-1	no_errors	XM_001726853	genbank	human	model	54_36p	in_frame_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
NOX5	79400	genome.wustl.edu	37	15	69327696	69327706	+	Frame_Shift_Del	DEL	GCTGATGCTCA	GCTGATGCTCA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GCTGATGCTCA	GCTGATGCTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr15:69327696_69327706delGCTGATGCTCA	ENST00000388866.3	+	6	899_909	c.858_868delGCTGATGCTCA	c.(856-870)gtgctgatgctcagafs	p.LMLR287fs	NOX5_ENST00000448182.3_Frame_Shift_Del_p.LMLR241fs|NOX5_ENST00000455873.3_Frame_Shift_Del_p.LMLR252fs|NOX5_ENST00000260364.5_Frame_Shift_Del_p.LMLR269fs|NOX5_ENST00000530406.2_Frame_Shift_Del_p.LMLR259fs|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	287					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGCCAGGTGCTGATGCTCAGACGCTGCCT	0.611																																																0			15																																								67114760	SO:0001589	frameshift_variant	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.858_868delGCTGATGCTCA	15.37:g.69327696_69327706delGCTGATGCTCA	ENSP00000373518:p.Leu287fs		67114750	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Frame_Shift_Del	DEL	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_8,superfamily_SSF52343,HMMPfam_NAD_binding_6	p.L269fs	ENST00000388866.3	37	c.804_814	CCDS32276.2	15																																																																																			(deletion:cds_exon[67114748,67114901])	HMMPfam_Ferric_reduct		0.611	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	protein_coding	OTTHUMT00000257124.2	GCTGATGCTCA	NM_024505		67114760	+1	no_errors	NM_024505	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
NQO1	1728	genome.wustl.edu	37	16	69752323	69752337	+	In_Frame_Del	DEL	TCCGACTCCACCACC	TCCGACTCCACCACC	-	rs200972816|rs546443181|rs201267571		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	TCCGACTCCACCACC	TCCGACTCCACCACC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr16:69752323_69752337delTCCGACTCCACCACC	ENST00000320623.5	-	2	619_633	c.108_122delGGTGGTGGAGTCGGA	c.(106-123)gaggtggtggagtcggac>gac	p.EVVES36del	NQO1_ENST00000561500.1_In_Frame_Del_p.EVVES36del|NQO1_ENST00000564043.1_In_Frame_Del_p.EVVES15del|NQO1_ENST00000379047.3_In_Frame_Del_p.EVVES36del|NQO1_ENST00000439109.2_In_Frame_Del_p.EVVES36del|NQO1_ENST00000379046.2_In_Frame_Del_p.EVVES36del	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	36					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCATAGAGGTCCGACTCCACCACCTCCCATCCTT	0.507																																																0			16																																								68309838	SO:0001651	inframe_deletion	1728			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.108_122delGGTGGTGGAGTCGGA	16.37:g.69752323_69752337delTCCGACTCCACCACC	ENSP00000319788:p.Glu36_Ser40del		68309824	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	In_Frame_Del	DEL	HMMPfam_Flavodoxin_2,superfamily_Flavoproteins	p.EVVES36in_frame_del	ENST00000320623.5	37	c.122_108	CCDS10883.1	16																																																																																			(deletion:cds_exon[68309774,68309938])	HMMPfam_Flavodoxin_2,superfamily_Flavoproteins		0.507	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO1	protein_coding	OTTHUMT00000268956.2	TCCGACTCCACCACC			68309838	-1	no_errors	NM_000903	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:0.998:0.502:0.986:0.983:0.127:0.060:0.063:0.000:0.001:0.001:0.045:0.993:0.997:0.960	-
ZSWIM8	23053	genome.wustl.edu	37	10	75559896	75559904	+	In_Frame_Del	DEL	AGCCAGGGC	AGCCAGGGC	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	AGCCAGGGC	AGCCAGGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr10:75559896_75559904delAGCCAGGGC	ENST00000605216.1	+	22	4995_5003	c.4778_4786delAGCCAGGGC	c.(4777-4788)gagccagggctt>gtt	p.1593_1596EPGL>V	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_In_Frame_Del_p.1598_1601EPGL>V|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_In_Frame_Del_p.1598_1601EPGL>V|ZSWIM8_ENST00000603114.1_In_Frame_Del_p.1560_1563EPGL>V|ZSWIM8_ENST00000604524.1_In_Frame_Del_p.1411_1414EPGL>V	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1593	Pro-rich.						zinc ion binding (GO:0008270)										TACCACACAGAGCCAGGGCTTCCACTGCC	0.589																																																0			10																																								75229910	SO:0001651	inframe_deletion	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4778_4786delAGCCAGGGC	10.37:g.75559896_75559904delAGCCAGGGC	ENSP00000474748:p.Glu1593_Leu1596delinsVal		75229902	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	In_Frame_Del	DEL	HMMPfam_SWIM	p.EPGL1598in_frame_delV	ENST00000605216.1	37	c.4793_4801		10																																																																																			(deletion:cds_exon[75229775,75229958])	NULL		0.589	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	protein_coding	OTTHUMT00000468545.1	AGCCAGGGC	NM_001242487		75229910	+1	no_errors	NM_015037	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000	-
NAA25	80018	genome.wustl.edu	37	12	112471124	112471134	+	Frame_Shift_Del	DEL	ATTGGAAATTA	ATTGGAAATTA	-			TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	ATTGGAAATTA	ATTGGAAATTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr12:112471124_112471134delATTGGAAATTA	ENST00000261745.4	-	23	2947_2957	c.2699_2709delTAATTTCCAAT	c.(2698-2709)ttaatttccaatfs	p.LISN900fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	900						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GATCCACAACATTGGAAATTAAAGTCTGAAG	0.346																																																0			12																																								110955517	SO:0001589	frameshift_variant	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2699_2709delTAATTTCCAAT	12.37:g.112471124_112471134delATTGGAAATTA	ENSP00000261745:p.Leu900fs		110955507	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Del	DEL	superfamily_TPR-like,HMMPfam_NatB_MDM20	p.L900fs	ENST00000261745.4	37	c.2709_2699	CCDS9159.1	12																																																																																			(deletion:cds_exon[110955420,110955566])	NULL		0.346	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf30	protein_coding	OTTHUMT00000405205.1	ATTGGAAATTA	NM_024953		110955517	-1	no_errors	NM_024953	genbank	human	validated	54_36p	frame_shift_del	DEL	0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.998	-
TTN	7273	genome.wustl.edu	37	2	179395824	179395836	+	Frame_Shift_Del	DEL	GCAGAAGTACTTA	GCAGAAGTACTTA	-	rs532236466|rs573843615		TCGA-61-1740-01A-01W-0639-09	TCGA-61-1740-11A-01W-0639-09	GCAGAAGTACTTA	GCAGAAGTACTTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0ad81b61-20fc-40d7-b0ad-6ea6bf305d82	5aa6d080-c4d6-4548-925f-dc1bbd21bbb4	g.chr2:179395824_179395836delGCAGAAGTACTTA	ENST00000591111.1	-	308	100807_100819	c.100583_100595delTAAGTACTTCTGC	c.(100582-100596)ctaagtacttctgccfs	p.LSTSA33528fs	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.LSTSA26229fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.LSTSA26296fs|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.LSTSA32601fs|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.LSTSA26104fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.LSTSA35169fs|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33528	Ig-like 147.				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)			TTGGTGGCGGGCAGAAGTACTTAGCACTTGTCC	0.521																																																0			2																																								179104082	SO:0001589	frameshift_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.100583_100595delTAAGTACTTCTGC	2.37:g.179395824_179395836delGCAGAAGTACTTA	ENSP00000465570:p.Leu33528fs		179104070	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	Frame_Shift_Del	DEL	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.L31150fs	ENST00000591111.1	37	c.93461_93449		2																																																																																			(deletion:cds_exon[179103214,179108822])	superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406		0.521	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	GCAGAAGTACTTA	NM_133378		179104082	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	frame_shift_del	DEL	0.998:0.999:0.996:1.000:0.999:0.856:0.888:0.809:0.013:0.006:0.002:0.001:0.423	-
