#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
AGRN	375790	genome.wustl.edu	37	1	981234	981234	+	Silent	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:981234G>T	ENST00000379370.2	+	15	2708	c.2658G>T	c.(2656-2658)ctG>ctT	p.L886L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	886	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCGTGCCCTGGGCCCCGCGG	0.692																																																0			1											47.0	54.0	52.0					1																	981234		2203	4298	6501	971097	SO:0001819	synonymous_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2658G>T	1.37:g.981234G>T			971097	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	HMMPfam_NtA,superfamily_TIMP_like,HMMSmart_FOLN,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA,HMMSmart_EGF,HMMPfam_EGF,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1,PatternScan_EGF_2	p.L886	ENST00000379370.2	37	c.2658	CCDS30551.1	1																																																																																			-	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	protein_coding	OTTHUMT00000097990.2	G	NM_198576		971097	+1	no_errors	NM_198576	genbank	human	validated	54_36p	silent	SNP	1.000	T
CYP2W1	54905	genome.wustl.edu	37	7	1026401	1026401	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:1026401A>T	ENST00000308919.7	+	5	800	c.787A>T	c.(787-789)Agc>Tgc	p.S263C	CYP2W1_ENST00000340150.6_Missense_Mutation_p.S207C	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	263					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCCCGTGTGCAGCTATGTGGA	0.687																																																0			7											20.0	21.0	21.0					7																	1026401		2188	4292	6480	992927	SO:0001583	missense	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.787A>T	7.37:g.1026401A>T	ENSP00000310149:p.Ser263Cys		992927		Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.S263C	ENST00000308919.7	37	c.787	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274206	0.23221	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.79940	-1.32;-1.32;-1.32	4.05	1.55	0.23275	.	0.265469	0.46145	D	0.000308	T	0.77519	0.4142	N	0.16602	0.42	0.27400	N	0.954875	B;D	0.71674	0.18;0.998	B;D	0.70016	0.178;0.967	T	0.68640	-0.5355	10	0.87932	D	0	.	7.0297	0.24960	0.7116:0.0:0.2884:0.0	.	207;263	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	C	263;207;37	ENSP00000310149:S263C;ENSP00000344178:S207C;ENSP00000392581:S37C	ENSP00000310149:S263C	S	+	1	0	CYP2W1	992927	0.984000	0.35163	0.223000	0.23860	0.014000	0.08584	0.936000	0.28938	0.227000	0.20999	0.459000	0.35465	AGC	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.687	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	protein_coding	OTTHUMT00000157249.1	A	NM_017781		992927	+1	no_errors	NM_017781	genbank	human	reviewed	54_36p	missense	SNP	0.559	T
MUC2	4583	genome.wustl.edu	37	11	1092910	1092910	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:1092910G>A	ENST00000441003.2	+	30	4756	c.4729G>A	c.(4729-4731)Ggc>Agc	p.G1577S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.G1578S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.G1577S(1)|p.G1578S(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aacacccaccggcacacagac	0.637																																																2	Substitution - Missense(2)	prostate(2)	11											85.0	125.0	111.0					11																	1092910		1937	3603	5540	1082910	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4729G>A	11.37:g.1092910G>A	ENSP00000415183:p.Gly1577Ser		1082910	Q14878	Missense_Mutation	SNP	HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors	p.G1578S	ENST00000441003.2	37	c.4732		11	.	.	.	.	.	.	.	.	.	.	g	2.787	-0.252217	0.05829	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11169	2.8;2.9	1.49	-2.97	0.05530	.	1.221530	0.07178	U	0.853623	T	0.04092	0.0114	.	.	.	0.09310	N	1	B	0.24882	0.113	B	0.11329	0.006	T	0.37798	-0.9690	9	0.07175	T	0.84	.	4.8921	0.13731	0.6336:0.1684:0.198:0.0	.	1577	E7EUV1	.	S	1577;1578	ENSP00000415183:G1577S;ENSP00000351956:G1578S	ENSP00000351956:G1578S	G	+	1	0	MUC2	1082910	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.266000	0.02842	-2.620000	0.00440	-1.713000	0.00713	GGC	-	NULL		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1082910	+1	no_stop_codon	ENST00000359061	ensembl	human	known	54_36p	missense	SNP	0.000	A
SMG6	23293	genome.wustl.edu	37	17	2139833	2139833	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:2139833T>G	ENST00000263073.6	-	10	2872	c.2822A>C	c.(2821-2823)cAg>cCg	p.Q941P	AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Missense_Mutation_p.Q33P|SMG6_ENST00000544865.1_Missense_Mutation_p.Q910P|SMG6_ENST00000354901.4_Missense_Mutation_p.Q33P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	941					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTCATAAGCTGCAGCATGCG	0.463																																					Melanoma(59;28 1088 11621 25887 46638 50814)											0			17											169.0	146.0	154.0					17																	2139833		2203	4300	6503	2086583	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2822A>C	17.37:g.2139833T>G	ENSP00000263073:p.Gln941Pro		2086583	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	HMMPfam_EST1,superfamily_PIN domain-like,HMMSmart_SM00670	p.Q941P	ENST00000263073.6	37	c.2822	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636562	0.87760	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.36878	1.23;1.23;1.23	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67126	-0.5749	10	0.87932	D	0	-8.2624	16.4323	0.83853	0.0:0.0:0.0:1.0	.	941	Q86US8	EST1A_HUMAN	P	941;910;33	ENSP00000263073:Q941P;ENSP00000443920:Q910P;ENSP00000440283:Q33P	ENSP00000263073:Q941P	Q	-	2	0	SMG6	2086583	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.281000	0.76405	0.528000	0.53228	CAG	-	NULL		0.463	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	T			2086583	-1	no_errors	NM_017575	genbank	human	validated	54_36p	missense	SNP	1.000	G
CHST12	55501	genome.wustl.edu	37	7	2472615	2472615	+	Missense_Mutation	SNP	G	G	T	rs201387415	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:2472615G>T	ENST00000258711.6	+	2	476	c.341G>T	c.(340-342)aGc>aTc	p.S114I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	114					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCCGGCGCAGCCCAGACCAG	0.716																																																0			7											19.0	24.0	23.0					7																	2472615		2178	4274	6452	2439141	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.341G>T	7.37:g.2472615G>T	ENSP00000258711:p.Ser114Ile		2439141	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_2	p.S114I	ENST00000258711.6	37	c.341	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	3.822	-0.037632	0.07497	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.61980	0.06;0.88	5.09	-2.53	0.06326	.	0.965857	0.08590	N	0.923121	T	0.49881	0.1583	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38950	-0.9637	10	0.36615	T	0.2	-24.5035	6.0373	0.19714	0.4334:0.0:0.3793:0.1873	.	114	Q9NRB3	CHSTC_HUMAN	I	114	ENSP00000258711:S114I;ENSP00000411207:S114I	ENSP00000258711:S114I	S	+	2	0	CHST12	2439141	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.132000	0.10467	-0.378000	0.07918	-0.254000	0.11334	AGC	-	HMMPfam_Sulfotransfer_2		0.716	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	protein_coding	OTTHUMT00000060170.3	G	NM_018641		2439141	+1	no_errors	NM_018641	genbank	human	validated	54_36p	missense	SNP	0.000	T
CACNA1C	775	genome.wustl.edu	37	12	2690847	2690847	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:2690847A>T	ENST00000347598.4	+	14	1987	c.1987A>T	c.(1987-1989)Atc>Ttc	p.I663F	CACNA1C_ENST00000399597.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I663F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.I663F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I663F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399655.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I688F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I663F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I663F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	663					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	cctcttcatcatcatcttctc	0.542																																																0			12											112.0	113.0	112.0					12																	2690847		2203	4300	6503	2561108	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1987A>T	12.37:g.2690847A>T	ENSP00000266376:p.Ile663Phe		2561108	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.I663F	ENST00000347598.4	37	c.1987	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199206	0.79015	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	4.41	4.41	0.53225	Ion transport (1);	0.110120	0.64402	D	0.000009	D	0.96950	0.9004	N	0.22421	0.69	0.58432	D	0.999998	D;D;P;D;D;D;D;B;D;D;D;P;P;D;P;B;D;D;D;D;D;D;D;D;D	0.67145	0.98;0.988;0.725;0.991;0.996;0.988;0.992;0.445;0.977;0.996;0.974;0.507;0.534;0.99;0.724;0.277;0.964;0.992;0.964;0.974;0.992;0.992;0.974;0.96;0.974	P;P;P;P;P;P;P;P;P;P;P;P;B;P;P;B;P;P;P;P;P;P;P;D;P	0.66979	0.663;0.732;0.812;0.736;0.854;0.732;0.854;0.805;0.791;0.854;0.564;0.522;0.33;0.825;0.46;0.189;0.805;0.854;0.805;0.564;0.854;0.854;0.564;0.948;0.564	D	0.97204	0.9866	10	0.49607	T	0.09	.	14.0774	0.64897	1.0:0.0:0.0:0.0	.	663;660;663;663;663;663;663;663;663;663;663;634;663;663;663;663;663;663;663;663;663;663;663;663;663	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	688;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;663;504	ENSP00000336982:I688F;ENSP00000382563:I663F;ENSP00000437936:I663F;ENSP00000382552:I663F;ENSP00000382547:I663F;ENSP00000382506:I663F;ENSP00000382530:I663F;ENSP00000382546:I663F;ENSP00000382500:I663F;ENSP00000382549:I663F;ENSP00000266376:I663F;ENSP00000382515:I663F;ENSP00000382510:I663F;ENSP00000341092:I663F;ENSP00000382537:I663F;ENSP00000329877:I663F;ENSP00000382557:I663F;ENSP00000385724:I663F;ENSP00000382512:I663F;ENSP00000382542:I663F;ENSP00000382526:I663F;ENSP00000385896:I663F;ENSP00000382504:I663F	ENSP00000323129:I504F	I	+	1	0	CACNA1C	2561108	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.273000	0.78527	1.977000	0.57605	0.402000	0.26972	ATC	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	A	NM_000719		2561108	+1	no_errors	NM_000719	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NOP56	10528	genome.wustl.edu	37	20	2638892	2638892	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr20:2638892C>G	ENST00000329276.5	+	12	2253	c.1737C>G	c.(1735-1737)agC>agG	p.S579R	SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	579	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTGGCAAGAGCAGCTCCAAGA	0.517																																																0			20											8.0	10.0	9.0					20																	2638892		2143	4252	6395	2586892	SO:0001583	missense	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1737C>G	20.37:g.2638892C>G	ENSP00000370589:p.Ser579Arg		2586892	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	HMMPfam_NOP5NT,HMMPfam_NOSIC,superfamily_SSF89124,HMMPfam_Nop	p.S579R	ENST00000329276.5	37	c.1737	CCDS13030.1	20	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881591	0.17467	.	.	ENSG00000101361	ENST00000329276	T	0.57907	0.37	5.27	1.25	0.21368	.	0.852967	0.10838	N	0.628614	T	0.36853	0.0982	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.32481	-0.9905	10	0.87932	D	0	-0.321	7.6775	0.28494	0.0:0.6788:0.0:0.3212	.	579	O00567	NOP56_HUMAN	R	579	ENSP00000370589:S579R	ENSP00000370589:S579R	S	+	3	2	NOP56	2586892	0.620000	0.27068	0.004000	0.12327	0.380000	0.30137	0.576000	0.23744	0.191000	0.20236	0.644000	0.83932	AGC	-	NULL		0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	protein_coding	OTTHUMT00000077631.2	C	NM_006392		2586892	+1	no_errors	NM_006392	genbank	human	reviewed	54_36p	missense	SNP	0.701	G
OR52I2	143502	genome.wustl.edu	37	11	4608093	4608093	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:4608093C>T	ENST00000312614.4	+	1	73	c.51C>T	c.(49-51)tgC>tgT	p.C17C		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCATTTGTGCATTAACAGGA	0.458																																																0			11											106.0	94.0	98.0					11																	4608093		2201	4298	6499	4564669	SO:0001819	synonymous_variant	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.51C>T	11.37:g.4608093C>T			4564669	B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.C17	ENST00000312614.4	37	c.51	CCDS31355.1	11																																																																																			-	NULL		0.458	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I2	protein_coding	OTTHUMT00000385946.1	C	NM_001005170		4564669	+1	no_errors	NM_001005170	genbank	human	provisional	54_36p	silent	SNP	0.000	T
CHD5	26038	genome.wustl.edu	37	1	6202548	6202548	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:6202548T>A	ENST00000262450.3	-	14	2260	c.2161A>T	c.(2161-2163)Acc>Tcc	p.T721S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAGGATGGTGTCAGTGCCC	0.637																																																0			1											114.0	81.0	92.0					1																	6202548		2203	4300	6503	6125135	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2161A>T	1.37:g.6202548T>A	ENSP00000262450:p.Thr721Ser		6125135	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	PatternScan_CHROMO_1,HMMPfam_CHDNT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,superfamily_Chromodomain-like,HMMSmart_CHROMO,superfamily_SSF52540,HMMPfam_Chromo,HMMSmart_DEXDc,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.T721S	ENST00000262450.3	37	c.2161	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266783	0.80358	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.92805	-3.11	3.43	3.43	0.39272	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	N	0.00686	-1.255	0.80722	D	1	B	0.25563	0.129	B	0.23716	0.048	T	0.75648	-0.3245	10	0.52906	T	0.07	-28.72	12.3403	0.55091	0.0:0.0:0.0:1.0	.	721	Q8TDI0	CHD5_HUMAN	S	721;237;129;129	ENSP00000262450:T721S	ENSP00000262450:T721S	T	-	1	0	CHD5	6125135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	1.545000	0.49373	0.459000	0.35465	ACC	-	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	T	NM_015557		6125135	-1	no_errors	NM_015557	genbank	human	provisional	54_36p	missense	SNP	1.000	A
GPR153	387509	genome.wustl.edu	37	1	6313948	6313948	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:6313948G>C	ENST00000377893.2	-	3	875	c.616C>G	c.(616-618)Cag>Gag	p.Q206E		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CGGTCGGCCTGGCGCCCCACC	0.706																																																0			1											25.0	28.0	27.0					1																	6313948		2192	4294	6486	6236535	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.616C>G	1.37:g.6313948G>C	ENSP00000367125:p.Gln206Glu		6236535	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.Q206E	ENST00000377893.2	37	c.616	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985802	0.00443	.	.	ENSG00000158292	ENST00000377893	T	0.37584	1.19	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.612326	0.16237	N	0.223313	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.13548	-1.0505	10	0.02654	T	1	-23.4569	11.513	0.50504	0.0:0.0:0.8203:0.1797	.	206	Q6NV75	GP153_HUMAN	E	206	ENSP00000367125:Q206E	ENSP00000367125:Q206E	Q	-	1	0	GPR153	6236535	1.000000	0.71417	0.398000	0.26321	0.095000	0.18619	3.044000	0.49830	2.347000	0.79759	0.563000	0.77884	CAG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.706	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	protein_coding	OTTHUMT00000003717.2	G			6236535	-1	no_errors	NM_207370	genbank	human	provisional	54_36p	missense	SNP	0.821	C
CLSTN3	9746	genome.wustl.edu	37	12	7290580	7290580	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:7290580G>T	ENST00000266546.6	+	8	1690	c.1240G>T	c.(1240-1242)Gtc>Ttc	p.V414F	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V426F	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	414					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCGCTGACTGTCCACGGCTG	0.592																																																0			12											124.0	110.0	115.0					12																	7290580		2203	4300	6503	7181847	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1240G>T	12.37:g.7290580G>T	ENSP00000266546:p.Val414Phe		7181847	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_ConA_like_lec_gl	p.V414F	ENST00000266546.6	37	c.1240	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398417	0.83120	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.74421	-0.84;-0.84	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.67397	2.05	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.73380	0.94;0.98	D	0.86716	0.1939	10	0.87932	D	0	-39.1561	18.3874	0.90471	0.0:0.0:1.0:0.0	.	426;414	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	F	414;426	ENSP00000266546:V414F;ENSP00000440679:V426F	ENSP00000266546:V414F	V	+	1	0	CLSTN3	7181847	1.000000	0.71417	0.978000	0.43139	0.806000	0.45545	6.568000	0.73987	2.573000	0.86826	0.462000	0.41574	GTC	-	superfamily_ConA_like_lec_gl		0.592	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	protein_coding	OTTHUMT00000398560.2	G	NM_014718		7181847	+1	no_errors	NM_014718	genbank	human	validated	54_36p	missense	SNP	1.000	T
OLFML1	283298	genome.wustl.edu	37	11	7531332	7531332	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:7531332C>T	ENST00000329293.3	+	3	1516	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.N374N	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	374	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCATTACAACCCCAGAGATA	0.463																																																0			11											78.0	69.0	72.0					11																	7531332		2201	4296	6497	7487908	SO:0001819	synonymous_variant	283298			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1122C>T	11.37:g.7531332C>T			7487908	B4DP03|Q569G4	Silent	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.N374	ENST00000329293.3	37	c.1122	CCDS7779.1	11																																																																																			-	HMMPfam_OLF,HMMSmart_SM00284		0.463	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	protein_coding	OTTHUMT00000384656.1	C	NM_198474		7487908	+1	no_errors	NM_198474	genbank	human	provisional	54_36p	silent	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"""	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	17	GRCh37	CM067054	TP53	M							47.0	47.0	47.0					17																	7578395		2203	4300	6503	7519120	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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr		7519120	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.H179Y	ENST00000269305.4	37	c.535	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519120	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DSP	1832	genome.wustl.edu	37	6	7583702	7583702	+	Silent	SNP	C	C	T	rs147398792		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:7583702C>T	ENST00000379802.3	+	24	6548	c.6207C>T	c.(6205-6207)gtC>gtT	p.V2069V	DSP_ENST00000418664.2_Silent_p.V1470V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2069	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCTGACTGTCGACAGTGCCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19053	0.001		0.0	False		,,,				2504	0.0															0			6						C	,	1,4405	2.1+/-5.4	0,1,2202	96.0	98.0	97.0		4410,6207	-10.2	0.3	6	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1470/2273,2069/2872	7583702	1,13005	2203	4300	6503	7528701	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6207C>T	6.37:g.7583702C>T			7528701	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin	p.V2069	ENST00000379802.3	37	c.6207	CCDS4501.1	6																																																																																			-	superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7528701	+1	no_errors	NM_004415	genbank	human	reviewed	54_36p	silent	SNP	0.974	T
GNAL	2774	genome.wustl.edu	37	18	11753899	11753899	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr18:11753899C>T	ENST00000423027.3	+	4	669	c.348C>T	c.(346-348)gaC>gaT	p.D116D	GNAL_ENST00000269162.5_Silent_p.D116D|GNAL_ENST00000535121.1_Silent_p.D116D|GNAL_ENST00000334049.6_Silent_p.D193D|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	116					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTCGATCAGACTACATCAAGA	0.348																																																0			18											98.0	96.0	97.0					18																	11753899		2203	4300	6503	11743899	SO:0001819	synonymous_variant	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.348C>T	18.37:g.11753899C>T			11743899	B7ZA26|Q86XU3	Silent	SNP	HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert	p.D193	ENST00000423027.3	37	c.579	CCDS11852.1	18																																																																																			-	HMMPfam_G-alpha,superfamily_SSF52540,superfamily_Transducn_insert		0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	protein_coding	OTTHUMT00000254561.2	C	NM_182978, NM_002071		11743899	+1	no_errors	NM_182978	genbank	human	validated	54_36p	silent	SNP	1.000	T
GRIN2B	2904	genome.wustl.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0															0			12											155.0	142.0	146.0					12																	13717461		2203	4300	6503	13608728	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met		13608728	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C	p.T904M	ENST00000609686.1	37	c.2711	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG	-	HMMPfam_NMDAR2_C		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	G			13608728	-1	no_errors	NM_000834	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AHR	196	genome.wustl.edu	37	7	17378784	17378784	+	Silent	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:17378784T>G	ENST00000242057.4	+	10	1978	c.1335T>G	c.(1333-1335)acT>acG	p.T445T	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	445					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CCACATCCACTCTAAGCAAGG	0.443																																																0			7											123.0	112.0	116.0					7																	17378784		2203	4300	6503	17345309	SO:0001819	synonymous_variant	196			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1335T>G	7.37:g.17378784T>G			17345309	A4D130|Q13728|Q13803|Q13804	Silent	SNP	HMMSmart_SM00353,HMMPfam_HLH,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086	p.T445	ENST00000242057.4	37	c.1335	CCDS5366.1	7																																																																																			-	NULL		0.443	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	protein_coding	OTTHUMT00000314620.2	T	NM_001621		17345309	+1	no_errors	NM_001621	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
TEP1	7011	genome.wustl.edu	37	14	20841695	20841695	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:20841695C>T	ENST00000262715.5	-	46	6692	c.6652G>A	c.(6652-6654)Ggg>Agg	p.G2218R	TEP1_ENST00000556935.1_Missense_Mutation_p.G2110R|TEP1_ENST00000545983.1_Missense_Mutation_p.G556R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2218					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGTGTGGCCCCATCTAGCCCG	0.557																																																0			14											77.0	69.0	71.0					14																	20841695		2203	4300	6503	19911535	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6652G>A	14.37:g.20841695C>T	ENSP00000262715:p.Gly2218Arg		19911535	A0AUV9	Missense_Mutation	SNP	HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.G2218R	ENST00000262715.5	37	c.6652	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916803	0.73098	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.58797	1.9;1.9;0.31	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055575	0.64402	D	0.000001	T	0.62792	0.2457	N	0.24115	0.695	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.62124	-0.6920	10	0.37606	T	0.19	-22.4393	14.3343	0.66578	0.0:1.0:0.0:0.0	.	556;2110;1561;2218	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	R	2218;2218;2110;556	ENSP00000262715:G2218R;ENSP00000452574:G2110R;ENSP00000438849:G556R	ENSP00000262715:G2218R	G	-	1	0	TEP1	19911535	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.761000	0.55242	2.459000	0.83118	0.655000	0.94253	GGG	-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	C	NM_007110		19911535	-1	no_errors	NM_007110	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RNASE6	6039	genome.wustl.edu	37	14	21249961	21249961	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:21249961G>C	ENST00000304677.2	+	2	396	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	35					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TCACTGGTTTGAAATTCAGCA	0.468																																																0			14											153.0	132.0	139.0					14																	21249961		2203	4300	6503	20319801	SO:0001583	missense	6039			U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.103G>C	14.37:g.21249961G>C	ENSP00000302046:p.Glu35Gln		20319801		Missense_Mutation	SNP	superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC	p.E35Q	ENST00000304677.2	37	c.103	CCDS9558.1	14	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174715	0.38413	.	.	ENSG00000169413	ENST00000304677	T	0.72835	-0.69	5.06	1.21	0.21127	Ribonuclease A, domain (4);	0.496511	0.19119	N	0.122236	T	0.53769	0.1817	L	0.37800	1.135	0.24758	N	0.992947	P	0.38420	0.63	B	0.38921	0.285	T	0.39313	-0.9620	10	0.28530	T	0.3	-5.2815	4.2438	0.10662	0.2741:0.1693:0.5566:0.0	.	35	Q93091	RNAS6_HUMAN	Q	35	ENSP00000302046:E35Q	ENSP00000302046:E35Q	E	+	1	0	RNASE6	20319801	0.038000	0.19896	0.998000	0.56505	0.919000	0.55068	-0.303000	0.08210	0.398000	0.25338	0.650000	0.86243	GAA	-	superfamily_RNase A-like,HMMSmart_SM00092,HMMPfam_RnaseA		0.468	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE6	protein_coding	OTTHUMT00000073750.2	G			20319801	+1	no_errors	NM_005615	genbank	human	validated	54_36p	missense	SNP	0.453	C
ZP2	7783	genome.wustl.edu	37	16	21215390	21215390	+	Silent	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:21215390G>C	ENST00000574002.1	-	10	1415	c.933C>G	c.(931-933)ggC>ggG	p.G311G	ZP2_ENST00000219593.4_Silent_p.G311G|ZP2_ENST00000574091.1_Silent_p.G311G|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	311					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCAATTTCATGCCATTTGTTG	0.423																																																0			16											186.0	160.0	169.0					16																	21215390		2200	4300	6500	21122891	SO:0001819	synonymous_variant	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.933C>G	16.37:g.21215390G>C			21122891	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1	p.G311	ENST00000574002.1	37	c.933	CCDS10596.1	16																																																																																			-	NULL		0.423	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	protein_coding	OTTHUMT00000207365.2	G			21122891	-1	no_errors	NM_003460	genbank	human	reviewed	54_36p	silent	SNP	0.776	C
RPL13AP7	284821	genome.wustl.edu	37	21	26734608	26734608	+	IGR	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr21:26734608A>T								AP001340.1 (23195 upstream) : LINC00158 (23524 downstream)																							CCTGGAGGAGAAGAGGAAAGA	0.512																																																0			21																																								25656479	SO:0001628	intergenic_variant	284821																															21.37:g.26734608A>T			25656479		RNA	SNP	-	NULL		37	NULL		21																																																																																			-	-	0	0.512					LOC284821			A			25656479	+1	pseudogene	XR_016232	genbank	human	model	54_36p	rna	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26286103	26286103	+	Missense_Mutation	SNP	C	C	A	rs140301218	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:26286103C>A	ENST00000265944.5	+	6	590	c.424C>A	c.(424-426)Cat>Aat	p.H142N	MYO3A_ENST00000376301.1_Missense_Mutation_p.H142N|MYO3A_ENST00000543632.1_Missense_Mutation_p.H142N|MYO3A_ENST00000376302.1_Missense_Mutation_p.H142N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAACATTTGCATAACAACAA	0.308																																																0			10											80.0	76.0	77.0					10																	26286103		2203	4297	6500	26326109	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.424C>A	10.37:g.26286103C>A	ENSP00000265944:p.His142Asn		26326109	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ	p.H142N	ENST00000265944.5	37	c.424	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580449	0.86645	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.95111	0.8238	10	0.46703	T	0.11	.	19.1769	0.93605	0.0:1.0:0.0:0.0	.	142;142;142;142	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	N	142	ENSP00000265944:H142N;ENSP00000365479:H142N;ENSP00000445909:H142N;ENSP00000365478:H142N	ENSP00000265944:H142N	H	+	1	0	MYO3A	26326109	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.497000	0.81536	2.697000	0.92050	0.591000	0.81541	CAT	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	C	NM_017433		26326109	+1	no_errors	NM_017433	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PLAA	9373	genome.wustl.edu	37	9	26919314	26919314	+	Missense_Mutation	SNP	A	A	T	rs144918422		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:26919314A>T	ENST00000397292.3	-	9	1828	c.1411T>A	c.(1411-1413)Ttt>Att	p.F471I	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.F471I	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	471					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTACCTGTAAATGGATCTGAA	0.308																																					Melanoma(175;2670 2735 14091 35526)											0			9																																								26909314	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1411T>A	9.37:g.26919314A>T	ENSP00000380460:p.Phe471Ile		26909314	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_PFU,HMMPfam_PUL,superfamily_ARM-type_fold	p.F471I	ENST00000397292.3	37	c.1411	CCDS35000.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822179|4.822179	0.90873|0.90873	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.61742|.	0.08;0.38|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74703|0.74703	0.3751|0.3751	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.56968|.	0.972;0.978|.	P;P|.	0.50825|.	0.647;0.651|.	T|T	0.75780|0.75780	-0.3197|-0.3197	10|5	0.72032|.	D|.	0.01|.	-15.8856|-15.8856	15.3063|15.3063	0.73995|0.73995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	471;471|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	I|N	471|143;20	ENSP00000380460:F471I;ENSP00000429372:F471I|.	ENSP00000380460:F471I|.	F|I	-|-	1|2	0|0	PLAA|PLAA	26909314|26909314	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.976000|0.976000	0.68499|0.68499	7.013000|7.013000	0.76373|0.76373	2.008000|2.008000	0.58898|0.58898	0.482000|0.482000	0.46254|0.46254	TTT|ATT	-	NULL		0.308	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAA	protein_coding	OTTHUMT00000051958.2	A	NM_001031689		26909314	-1	no_errors	NM_001031689	genbank	human	validated	54_36p	missense	SNP	0.997	T
ADAMTS1	9510	genome.wustl.edu	37	21	28216738	28216738	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr21:28216738G>A	ENST00000284984.3	-	1	990	c.536C>T	c.(535-537)gCa>gTa	p.A179V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	179					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTGTAGTGGTGCCGGCGGCTT	0.736											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			21											6.0	6.0	6.0					21																	28216738		2001	4028	6029	27138609	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.536C>T	21.37:g.28216738G>A	ENSP00000284984:p.Ala179Val	800	27138609	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1	p.A179V	ENST00000284984.3	37	c.536	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	8.724	0.914981	0.17907	.	.	ENSG00000154734	ENST00000284984	T	0.61980	0.06	4.07	-3.21	0.05140	.	.	.	.	.	T	0.35941	0.0949	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17722	0.019	T	0.23226	-1.0194	9	0.25106	T	0.35	.	8.8523	0.35208	0.0769:0.0:0.3406:0.5825	.	179	Q9UHI8	ATS1_HUMAN	V	179	ENSP00000284984:A179V	ENSP00000284984:A179V	A	-	2	0	ADAMTS1	27138609	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.720000	0.04969	-0.249000	0.09569	0.455000	0.32223	GCA	-	NULL		0.736	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	G			27138609	-1	no_errors	NM_006988	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
GOLGA8UP	100507067	genome.wustl.edu	37	15	31088177	31088177	+	IGR	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr15:31088177C>T								ARHGAP11B (22981 upstream) : RN7SL82P (4174 downstream)																							CTATATGACACGAAATGTTCT	0.453																																																0			15																																								28875469	SO:0001628	intergenic_variant	390561																															15.37:g.31088177C>T			28875469		Silent	SNP	NULL	p.H536		37	c.1608		15																																																																																			-	NULL	0	0.453					LOC390561			C			28875469	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	XM_001726958	genbank	human	model	54_36p	silent	SNP	0.010	T
LTN1	26046	genome.wustl.edu	37	21	30303480	30303480	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr21:30303480G>C	ENST00000361371.5	-	29	5314	c.5235C>G	c.(5233-5235)tgC>tgG	p.C1745W	LTN1_ENST00000389194.2_Missense_Mutation_p.C1791W			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1745					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GACTTACCAAGCAGGCTGAAT	0.353																																																0			21											98.0	99.0	99.0					21																	30303480		2203	4300	6503	29225351	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5235C>G	21.37:g.30303480G>C	ENSP00000354977:p.Cys1745Trp		29225351	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4	p.C1745W	ENST00000361371.5	37	c.5235		21	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055085	0.55325	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.67345	-0.26;-0.26	5.31	2.28	0.28536	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87228	0.2258	10	0.87932	D	0	.	8.8186	0.35011	0.4128:0.0:0.5872:0.0	.	1745	O94822	LTN1_HUMAN	W	1791;1745	ENSP00000373846:C1791W;ENSP00000354977:C1745W	ENSP00000354977:C1745W	C	-	3	2	LTN1	29225351	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.484000	0.35508	0.327000	0.23409	0.591000	0.81541	TGC	-	superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	RNF160	protein_coding	OTTHUMT00000472108.1	G	NM_015565		29225351	-1	no_errors	NM_015565	genbank	human	validated	54_36p	missense	SNP	1.000	C
IL1RAPL1	11141	genome.wustl.edu	37	X	29972793	29972793	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:29972793T>A	ENST00000378993.1	+	10	2029	c.1356T>A	c.(1354-1356)gaT>gaA	p.D452E	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D452E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	452	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGATAGAGATTTAATCCCAA	0.348																																																0			X											75.0	70.0	72.0					X																	29972793		2202	4300	6502	29882714	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1356T>A	X.37:g.29972793T>A	ENSP00000368278:p.Asp452Glu		29882714	A0AVG4|Q9UJ53	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR	p.D452E	ENST00000378993.1	37	c.1356	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336563	0.81801	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.19105	2.17;2.17	5.25	5.25	0.73442	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.91717	3.235	0.51233	D	0.999913	D	0.71674	0.998	D	0.87578	0.998	T	0.66260	-0.5968	9	.	.	.	.	14.4604	0.67445	0.0:0.0:0.0:1.0	.	452	Q9NZN1	IRPL1_HUMAN	E	452	ENSP00000368278:D452E;ENSP00000305200:D452E	.	D	+	3	2	IL1RAPL1	29882714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.761000	0.55242	1.862000	0.54008	0.481000	0.45027	GAT	-	superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	protein_coding	OTTHUMT00000056155.1	T	NM_014271		29882714	+1	no_errors	NM_014271	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SLFN5	162394	genome.wustl.edu	37	17	33586382	33586382	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:33586382G>C	ENST00000299977.4	+	2	821	c.673G>C	c.(673-675)Gga>Cga	p.G225R	SLFN5_ENST00000542451.1_Missense_Mutation_p.G225R|SLFN5_ENST00000592325.1_Missense_Mutation_p.G225R	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	225					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TACTGAAGGAGGATATGTATT	0.403																																																0			17											155.0	151.0	152.0					17																	33586382		2203	4300	6503	30610495	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.673G>C	17.37:g.33586382G>C	ENSP00000299977:p.Gly225Arg		30610495	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	HMMPfam_AAA_4,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G225R	ENST00000299977.4	37	c.673	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425891	0.62733	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.72167	-0.63;-0.63	3.68	3.68	0.42216	.	0.245466	0.21414	N	0.074921	D	0.86497	0.5947	M	0.94101	3.495	0.29989	N	0.817018	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.975;0.975;1.0	D	0.83633	0.0146	10	0.87932	D	0	.	11.0997	0.48166	0.0:0.0:1.0:0.0	.	225;225;225	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	R	225	ENSP00000299977:G225R;ENSP00000440537:G225R	ENSP00000299977:G225R	G	+	1	0	SLFN5	30610495	1.000000	0.71417	0.250000	0.24296	0.980000	0.70556	6.006000	0.70724	2.034000	0.60081	0.655000	0.94253	GGA	-	HMMPfam_AAA_4		0.403	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	protein_coding	OTTHUMT00000448649.2	G	NM_144975		30610495	+1	no_errors	NM_144975	genbank	human	validated	54_36p	missense	SNP	0.826	C
SRCAP	10847	genome.wustl.edu	37	16	30732653	30732653	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:30732653G>C	ENST00000262518.4	+	21	3782	c.3397G>C	c.(3397-3399)Gtg>Ctg	p.V1133L	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.V1133L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1133	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCCTGACAGTGCCACCAGG	0.632																																																0			16											108.0	101.0	103.0					16																	30732653		2197	4300	6497	30640154	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3397G>C	16.37:g.30732653G>C	ENSP00000262518:p.Val1133Leu		30640154	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384	p.V1133L	ENST00000262518.4	37	c.3397	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083222	0.36758	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91124	-2.79;-2.7	5.26	5.26	0.73747	.	.	.	.	.	D	0.85089	0.5617	N	0.14661	0.345	0.80722	D	1	P;P	0.46859	0.885;0.817	P;B	0.44946	0.465;0.275	D	0.85904	0.1436	9	0.41790	T	0.15	-8.4273	15.8888	0.79276	0.0:0.0:1.0:0.0	.	1133;1133	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	1133	ENSP00000262518:V1133L;ENSP00000378499:V1133L	ENSP00000262518:V1133L	V	+	1	0	SRCAP	30640154	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.203000	0.51075	2.731000	0.93534	0.557000	0.71058	GTG	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30640154	+1	no_errors	NM_006662	genbank	human	validated	54_36p	missense	SNP	1.000	C
VWA7	80737	genome.wustl.edu	37	6	31734964	31734964	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:31734964C>T	ENST00000375688.4	-	13	2053	c.1853G>A	c.(1852-1854)gGc>gAc	p.G618D	VWA7_ENST00000375686.3_Missense_Mutation_p.G618D|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.G618D			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	618						extracellular region (GO:0005576)											GGGGTAGAGGCCAGGGTGGGG	0.507																																																0			6											26.0	26.0	26.0					6																	31734964		2203	4299	6502	31842943	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1853G>A	6.37:g.31734964C>T	ENSP00000364840:p.Gly618Asp		31842943	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	HMMSmart_VWA,superfamily_SSF53300	p.G618D	ENST00000375688.4	37	c.1853	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829398	0.71258	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.34667	2.51;2.29;1.35	5.82	4.96	0.65561	.	0.119204	0.53938	D	0.000045	T	0.28067	0.0692	L	0.36672	1.1	0.35045	D	0.760118	D	0.55605	0.972	P	0.58130	0.833	T	0.10405	-1.0631	10	0.30078	T	0.28	-11.0423	10.7781	0.46361	0.0:0.9131:0.0:0.0869	.	618	Q9Y334	G7C_HUMAN	D	618	ENSP00000364840:G618D;ENSP00000364838:G618D;ENSP00000390554:G618D	ENSP00000364838:G618D	G	-	2	0	C6orf27	31842943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.500000	0.53318	1.483000	0.48342	0.555000	0.69702	GGC	-	NULL		0.507	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C6orf27	protein_coding	OTTHUMT00000076233.2	C	NM_025258		31842943	-1	no_errors	NM_025258	genbank	human	validated	54_36p	missense	SNP	1.000	T
SYNC	81493	genome.wustl.edu	37	1	33160499	33160499	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:33160499C>T	ENST00000409190.3	-	2	1658	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	SYNC_ENST00000373484.3_Silent_p.R400R	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	400	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCGTTTTTGCCTCACAAGTG	0.547																																																0			1											286.0	288.0	287.0					1																	33160499		2203	4300	6503	32933086	SO:0001819	synonymous_variant	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1200G>A	1.37:g.33160499C>T			32933086	B4DNK8|B4DY58|C9IY41	Silent	SNP	NULL	p.R69	ENST00000409190.3	37	c.207	CCDS367.2	1																																																																																			-	NULL		0.547	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNC	protein_coding	OTTHUMT00000022129.3	C	NM_030786		32933086	-1	no_errors	NM_030786	genbank	human	validated	54_36p	silent	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37881375	37881375	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:37881375C>G	ENST00000269571.5	+	21	2726	c.2567C>G	c.(2566-2568)cCc>cGc	p.P856R	ERBB2_ENST00000445658.2_Missense_Mutation_p.P580R|ERBB2_ENST00000584450.1_Missense_Mutation_p.P856R|ERBB2_ENST00000584601.1_Missense_Mutation_p.P826R|ERBB2_ENST00000540147.1_Missense_Mutation_p.P826R|ERBB2_ENST00000541774.1_Missense_Mutation_p.P841R|ERBB2_ENST00000406381.2_Missense_Mutation_p.P826R|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTCAAGAGTCCCAACCATGTC	0.567		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0			17											84.0	78.0	80.0					17																	37881375		2203	4300	6503	35134901	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2567C>G	17.37:g.37881375C>G	ENSP00000269571:p.Pro856Arg		35134901	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_Recep_L_domain,superfamily_Growth factor receptor domain,HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_EF_HAND_1,HMMPfam_YLP	p.P856R	ENST00000269571.5	37	c.2567	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972574	0.53614	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63165	0.2488	N	0.13272	0.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.70063	-0.4975	9	0.87932	D	0	.	18.2846	0.90110	0.0:1.0:0.0:0.0	.	580;841;856	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	826;841;580;856;826	ENSP00000385185:P826R;ENSP00000446466:P841R;ENSP00000404047:P580R;ENSP00000269571:P856R;ENSP00000443562:P826R	ENSP00000269571:P856R	P	+	2	0	ERBB2	35134901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.708000	0.61859	2.651000	0.90000	0.563000	0.77884	CCC	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.567	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	C			35134901	+1	no_errors	NM_004448	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
KIF21A	55605	genome.wustl.edu	37	12	39751232	39751232	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:39751232C>G	ENST00000361418.5	-	9	1238	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	KIF21A_ENST00000544797.2_Missense_Mutation_p.R408T|KIF21A_ENST00000541463.2_Missense_Mutation_p.R408T|KIF21A_ENST00000361961.3_Missense_Mutation_p.R408T|KIF21A_ENST00000395670.3_Missense_Mutation_p.R408T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	408					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCAATTATTCTTTTACCCTA	0.343																																																1	Substitution - Missense(1)	large_intestine(1)	12											90.0	83.0	85.0					12																	39751232		2203	4300	6503	38037499	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1223G>C	12.37:g.39751232C>G	ENSP00000354878:p.Arg408Thr		38037499	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.R408T	ENST00000361418.5	37	c.1223	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614374	0.87359	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.82893	-0.55;-0.53;-0.55;-0.47;-0.52;-1.66	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000026	D	0.90497	0.7023	M	0.71581	2.175	0.58432	D	0.99999	D;D;D;D;B	0.89917	0.99;0.987;0.971;1.0;0.224	P;D;P;D;B	0.83275	0.896;0.942;0.79;0.996;0.268	D	0.91792	0.5444	10	0.72032	D	0.01	.	17.6979	0.88286	0.0:1.0:0.0:0.0	.	408;408;408;408;408	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	408;408;408;408;408;408;231	ENSP00000354851:R408T;ENSP00000379029:R408T;ENSP00000445606:R408T;ENSP00000354878:R408T;ENSP00000438075:R408T;ENSP00000449700:R231T	ENSP00000344501:R408T	R	-	2	0	KIF21A	38037499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.574000	0.82434	2.236000	0.73375	0.655000	0.94253	AGA	-	NULL		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641		38037499	-1	no_errors	NM_017641	genbank	human	validated	54_36p	missense	SNP	1.000	G
DISP2	85455	genome.wustl.edu	37	15	40659878	40659878	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr15:40659878G>A	ENST00000267889.3	+	8	1652	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	522	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGGGTGCTGGGCTCACTGCTG	0.617																																																0			15											101.0	89.0	93.0					15																	40659878		2203	4300	6503	38447170	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1565G>A	15.37:g.40659878G>A	ENSP00000267889:p.Gly522Asp		38447170	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	superfamily_SSF82866	p.G522D	ENST00000267889.3	37	c.1565	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465565	0.63513	.	.	ENSG00000140323	ENST00000267889	D	0.95447	-3.71	5.58	5.58	0.84498	Sterol-sensing domain (1);	0.164825	0.53938	D	0.000055	D	0.96855	0.8973	L	0.54323	1.7	0.58432	D	0.999992	D	0.67145	0.996	D	0.66979	0.948	D	0.96111	0.9077	10	0.39692	T	0.17	-32.6682	19.5634	0.95382	0.0:0.0:1.0:0.0	.	522	A7MBM2	DISP2_HUMAN	D	522	ENSP00000267889:G522D	ENSP00000267889:G522D	G	+	2	0	DISP2	38447170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.387000	0.73191	2.625000	0.88918	0.561000	0.74099	GGC	-	superfamily_SSF82866		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	protein_coding	OTTHUMT00000252249.1	G	NM_033510		38447170	+1	no_errors	NM_033510	genbank	human	reviewed	54_36p	missense	SNP	0.994	A
DNAH8	1769	genome.wustl.edu	37	6	38825381	38825381	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:38825381G>T	ENST00000359357.3	+	40	5424	c.5170G>T	c.(5170-5172)Gtg>Ttg	p.V1724L	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1724L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1941L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1724					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATCATGCAAGTGACCAATCA	0.383																																																0			6											115.0	112.0	113.0					6																	38825381		2203	4300	6503	38933359	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5170G>T	6.37:g.38825381G>T	ENSP00000352312:p.Val1724Leu		38933359	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.V1724L	ENST00000359357.3	37	c.5170		6	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637845	0.29157	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23950	1.93;1.92;1.88	5.75	-1.87	0.07737	.	1.110040	0.06605	N	0.754601	T	0.06142	0.0159	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40117	-0.9580	10	0.39692	T	0.17	.	2.8741	0.05626	0.4677:0.1151:0.2998:0.1175	.	1724	Q96JB1	DYH8_HUMAN	L	1929;1929;1724;1724	ENSP00000333363:V1929L;ENSP00000352312:V1724L;ENSP00000402294:V1724L	ENSP00000333363:V1929L	V	+	1	0	DNAH8	38933359	0.000000	0.05858	0.067000	0.19924	0.905000	0.53344	-0.274000	0.08537	-0.131000	0.11578	-0.136000	0.14681	GTG	-	NULL		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38933359	+1	no_errors	NM_001371	genbank	human	validated	54_36p	missense	SNP	0.229	T
LOXHD1	125336	genome.wustl.edu	37	18	44149596	44149596	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr18:44149596G>A	ENST00000398722.4	-	9	1218	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	LOXHD1_ENST00000441551.2_Missense_Mutation_p.R685C|LOXHD1_ENST00000536736.1_Missense_Mutation_p.R685C			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	407	PLAT 4. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.R685C(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						ATGTGATAGCGAAAGTCTGAA	0.547																																																1	Substitution - Missense(1)	pancreas(1)	18											90.0	76.0	80.0					18																	44149596		692	1591	2283	42403594	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.1219C>T	18.37:g.44149596G>A	ENSP00000381707:p.Arg407Cys		42403594	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308	p.R407C	ENST00000398722.4	37	c.1219		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.20|12.20	1.867347|1.867347	0.32977|0.32977	.|.	.|.	ENSG00000167210|ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730|ENST00000441551	T;T|.	0.22743|.	1.94;1.94|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.221065|.	0.46758|.	D|.	0.000265|.	T|T	0.56848|0.56848	0.2013|0.2013	L|L	0.43701|0.43701	1.375|1.375	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.65010|.	0.827;0.931|.	T|T	0.53697|0.53697	-0.8402|-0.8402	10|5	0.38643|.	T|.	0.18|.	.|.	9.5668|9.5668	0.39402|0.39402	0.0:0.124:0.6248:0.2512|0.0:0.124:0.6248:0.2512	.|.	685;407|.	F5GZB4;Q8IVV2-2|.	.;.|.	C|L	407;685;407|665	ENSP00000381707:R407C;ENSP00000444586:R685C|.	ENSP00000338222:R407C|.	R|S	-|-	1|2	0|0	LOXHD1|LOXHD1	42403594|42403594	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.771000|0.771000	0.43674|0.43674	4.016000|4.016000	0.57159|0.57159	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	CGC|TCG	-	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMSmart_SM00308,HMMPfam_PLAT		0.547	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	protein_coding		G	NM_144612		42403594	-1	no_errors	ENST00000398722	ensembl	human	known	54_36p	missense	SNP	1.000	A
SLC2A1	6513	genome.wustl.edu	37	1	43408904	43408904	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:43408904G>C	ENST00000426263.3	-	2	285	c.107C>G	c.(106-108)cCc>cGc	p.P36R	SLC2A1_ENST00000415851.2_Missense_Mutation_p.P36R|SLC2A1_ENST00000372500.3_Missense_Mutation_p.P36R	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	36					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CACCTTCTGGGGGGCATTGAT	0.572																																																0			1											66.0	51.0	56.0					1																	43408904		2203	4300	6503	43181491	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.107C>G	1.37:g.43408904G>C	ENSP00000416293:p.Pro36Arg		43181491	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1	p.P36R	ENST00000426263.3	37	c.107	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427564	0.83667	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000415851;ENST00000372500	T;T	0.80653	-1.4;-1.4	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	H	0.98612	4.28	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.95457	0.8539	10	0.87932	D	0	.	14.6388	0.68708	0.0:0.0:1.0:0.0	.	36	P11166	GTR1_HUMAN	R	36	ENSP00000416293:P36R;ENSP00000361578:P36R	ENSP00000361578:P36R	P	-	2	0	SLC2A1	43181491	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.929000	0.87595	2.612000	0.88384	0.655000	0.94253	CCC	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr		0.572	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	protein_coding	OTTHUMT00000020358.2	G	NM_006516		43181491	-1	no_errors	NM_006516	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
UROD	7389	genome.wustl.edu	37	1	45477952	45477952	+	Silent	SNP	G	G	T	rs397514764		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:45477952G>T	ENST00000246337.4	+	1	134	c.15G>T	c.(13-15)ggG>ggT	p.G5G	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	5					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AAGCGAATGGGTTGGGGTGAG	0.557									Porphyria Cutanea Tarda, Type II																																							0			1											132.0	133.0	132.0					1																	45477952		2203	4300	6503	45250539	SO:0001819	synonymous_variant	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.15G>T	1.37:g.45477952G>T			45250539	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	superfamily_UROD/MetE-like,HMMPfam_URO-D,PatternScan_UROD_1,PatternScan_UROD_2	p.G5	ENST00000246337.4	37	c.15	CCDS518.1	1																																																																																			-	NULL		0.557	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	protein_coding	OTTHUMT00000024803.1	G	NM_000374		45250539	+1	no_errors	NM_000374	genbank	human	reviewed	54_36p	silent	SNP	0.001	T
AKR1A1	10327	genome.wustl.edu	37	1	46033769	46033769	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:46033769G>T	ENST00000372070.3	+	6	1219	c.472G>T	c.(472-474)Gcg>Tcg	p.A158S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.A158S|AKR1A1_ENST00000473038.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	158					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GCTGGTGCAGGCGCTGGGCCT	0.562																																																0			1											79.0	71.0	74.0					1																	46033769		2203	4300	6503	45806356	SO:0001583	missense	10327			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.472G>T	1.37:g.46033769G>T	ENSP00000361140:p.Ala158Ser		45806356	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3	p.A158S	ENST00000372070.3	37	c.472	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415421	0.42817	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.25085	1.82;1.82	5.75	5.75	0.90469	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.046170	0.85682	D	0.000000	T	0.17280	0.0415	N	0.10809	0.05	0.80722	D	1	B	0.22346	0.068	B	0.32465	0.146	T	0.05733	-1.0867	10	0.02654	T	1	.	20.0202	0.97492	0.0:0.0:1.0:0.0	.	158	P14550	AK1A1_HUMAN	S	158	ENSP00000361140:A158S;ENSP00000312606:A158S	ENSP00000312606:A158S	A	+	1	0	AKR1A1	45806356	1.000000	0.71417	0.969000	0.41365	0.897000	0.52465	5.334000	0.65923	2.729000	0.93468	0.650000	0.86243	GCG	-	superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_2		0.562	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	protein_coding	OTTHUMT00000020851.1	G	NM_006066		45806356	+1	no_errors	NM_006066	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
TDRD6	221400	genome.wustl.edu	37	6	46657423	46657423	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:46657423A>C	ENST00000316081.6	+	1	1558	c.1558A>C	c.(1558-1560)Atg>Ctg	p.M520L	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.M520L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	520					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GATGAGGAGAATGTGTGGTTT	0.413																																																0			6											130.0	124.0	126.0					6																	46657423		2203	4300	6503	46765382	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1558A>C	6.37:g.46657423A>C	ENSP00000346065:p.Met520Leu		46765382	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748	p.M520L	ENST00000316081.6	37	c.1558	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	A	8.846	0.943371	0.18281	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.06608	3.28;3.28	5.88	5.88	0.94601	Maternal tudor protein (1);	0.185551	0.64402	D	0.000011	T	0.02119	0.0066	L	0.33189	0.99	0.37922	D	0.931721	B;B	0.32526	0.066;0.374	B;B	0.28991	0.058;0.097	T	0.52533	-0.8563	10	0.20519	T	0.43	-18.3556	11.6976	0.51553	0.8676:0.0:0.0:0.1324	.	520;520	F5H5M3;O60522	.;TDRD6_HUMAN	L	520	ENSP00000443299:M520L;ENSP00000346065:M520L	ENSP00000346065:M520L	M	+	1	0	TDRD6	46765382	0.997000	0.39634	0.930000	0.37139	0.686000	0.39977	3.663000	0.54518	2.242000	0.73789	0.533000	0.62120	ATG	-	HMMPfam_TUDOR		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	A	XM_166443		46765382	+1	no_errors	NM_001010870	genbank	human	provisional	54_36p	missense	SNP	0.856	C
PLXNB1	5364	genome.wustl.edu	37	3	48452414	48452414	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:48452414C>G	ENST00000358536.4	-	29	5548	c.5279G>C	c.(5278-5280)gGg>gCg	p.G1760A	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G1577A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1760A|PLXNB1_ENST00000448774.2_Missense_Mutation_p.G371A|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G1577A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1760					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCTCCTGCCCCAGGCCCCAC	0.577																																																0			3											46.0	42.0	44.0					3																	48452414		2203	4300	6503	48427418	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5279G>C	3.37:g.48452414C>G	ENSP00000351338:p.Gly1760Ala		48427418	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,PatternScan_IG_MHC,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP,PatternScan_LIPOCALIN	p.G1760A	ENST00000358536.4	37	c.5279	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760576	0.31137	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.78	2.96	0.34315	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.830365	0.11307	N	0.577600	T	0.10337	0.0253	L	0.31120	0.905	0.34415	D	0.696761	B;B	0.31893	0.003;0.345	B;B	0.39503	0.029;0.301	T	0.21415	-1.0246	10	0.08381	T	0.77	.	11.7343	0.51757	0.0:0.6988:0.2298:0.0714	.	1760;1577	O43157;O43157-2	PLXB1_HUMAN;.	A	1760;1577;1760;371;1577	ENSP00000296440:G1760A;ENSP00000351242:G1577A;ENSP00000351338:G1760A;ENSP00000389320:G371A;ENSP00000414199:G1577A	ENSP00000296440:G1760A	G	-	2	0	PLXNB1	48427418	0.081000	0.21417	0.175000	0.22980	0.815000	0.46073	1.489000	0.35562	0.093000	0.17368	-0.797000	0.03246	GGG	-	HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP		0.577	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48427418	-1	no_errors	NM_002673	genbank	human	validated	54_36p	missense	SNP	0.002	G
SNTG1	54212	genome.wustl.edu	37	8	51449358	51449358	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:51449358G>T	ENST00000522124.1	+	11	1331	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	SNTG1_ENST00000276467.5_Missense_Mutation_p.D224Y|SNTG1_ENST00000517473.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.D224Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	224					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCCGGCACAGATTTGAGTCG	0.473																																																0			8											189.0	172.0	178.0					8																	51449358		2203	4300	6503	51611911	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.670G>T	8.37:g.51449358G>T	ENSP00000429842:p.Asp224Tyr		51611911	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like	p.D224Y	ENST00000522124.1	37	c.670	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553353	0.45487	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.91	4.91	0.64330	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.969;0.994	D	0.84241	0.0472	10	0.87932	D	0	.	16.6713	0.85267	0.0:0.0:1.0:0.0	.	224;224	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Y	224	ENSP00000429276:D224Y;ENSP00000429842:D224Y;ENSP00000431123:D224Y;ENSP00000276467:D224Y	ENSP00000276467:D224Y	D	+	1	0	SNTG1	51611911	1.000000	0.71417	0.060000	0.19600	0.039000	0.13416	8.032000	0.88838	2.281000	0.76405	0.491000	0.48974	GAT	-	HMMSmart_SM00233,superfamily_PH domain-like		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	G			51611911	+1	no_errors	NM_018967	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
RNF43	54894	genome.wustl.edu	37	17	56440919	56440919	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr17:56440919C>G	ENST00000584437.1	-	3	2373	c.418G>C	c.(418-420)Gac>Cac	p.D140H	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.D13H|RNF43_ENST00000583753.1_Missense_Mutation_p.D99H|RNF43_ENST00000407977.2_Missense_Mutation_p.D140H|RNF43_ENST00000500597.2_Missense_Mutation_p.D99H|RNF43_ENST00000577625.1_Missense_Mutation_p.D13H|RNF43_ENST00000577716.1_Missense_Mutation_p.D140H			Q68DV7	RNF43_HUMAN	ring finger protein 43	140					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGTGATGTCAAAGAGGACA	0.597																																																0			17											113.0	107.0	109.0					17																	56440919		2203	4300	6503	53795918	SO:0001583	missense	54894				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.418G>C	17.37:g.56440919C>G	ENSP00000463069:p.Asp140His		53795918	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.D140H	ENST00000584437.1	37	c.418	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.129753	0.94473	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21031	2.03;2.64	5.4	5.4	0.78164	.	0.110897	0.64402	D	0.000012	T	0.38665	0.1049	L	0.36672	1.1	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.06427	-1.0827	10	0.48119	T	0.1	-14.304	18.1499	0.89671	0.0:1.0:0.0:0.0	.	99;140;140	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	H	140;99	ENSP00000385328:D140H;ENSP00000441969:D99H	ENSP00000385328:D140H	D	-	1	0	RNF43	53795918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.948000	0.75965	2.531000	0.85337	0.591000	0.81541	GAC	-	NULL		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	protein_coding	OTTHUMT00000444713.1	C	NM_017763		53795918	-1	no_errors	NM_017763	genbank	human	validated	54_36p	missense	SNP	1.000	G
OPRK1	4986	genome.wustl.edu	37	8	54142199	54142199	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:54142199G>A	ENST00000265572.3	-	4	1098	c.801C>T	c.(799-801)cgC>cgT	p.R267R	OPRK1_ENST00000524278.1_Silent_p.R178R|OPRK1_ENST00000520287.1_Silent_p.R267R|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	267					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TACGCAGGTTGCGATCTTTCT	0.567																																																0			8											78.0	85.0	83.0					8																	54142199		2203	4300	6503	54304752	SO:0001819	synonymous_variant	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.801C>T	8.37:g.54142199G>A			54304752	E5RHC9|Q499G4	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R267	ENST00000265572.3	37	c.801	CCDS6152.1	8																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.567	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	protein_coding	OTTHUMT00000378048.1	G			54304752	-1	no_errors	NM_000912	genbank	human	validated	54_36p	silent	SNP	0.985	A
PCSK9	255738	genome.wustl.edu	37	1	55527225	55527225	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:55527225A>T	ENST00000302118.5	+	11	2149	c.1859A>T	c.(1858-1860)gAg>gTg	p.E620V	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	620	C-terminal domain.				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						GCCCCTCAGGAGCAGGTGAAG	0.627																																					Pancreas(137;1454 1827 5886 22361 42375)											0			1											20.0	19.0	19.0					1																	55527225		2189	4294	6483	55299813	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.1859A>T	1.37:g.55527225A>T	ENSP00000303208:p.Glu620Val		55299813	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8	p.E620V	ENST00000302118.5	37	c.1859	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117932	0.37339	.	.	ENSG00000169174	ENST00000302118	T	0.72394	-0.65	4.0	4.0	0.46444	.	0.457681	0.18469	U	0.140273	T	0.53802	0.1819	L	0.29908	0.895	0.58432	D	0.999994	B	0.32245	0.361	B	0.26864	0.074	T	0.52793	-0.8528	10	0.35671	T	0.21	-8.0031	8.8464	0.35172	0.9052:0.0:0.0948:0.0	.	620	Q8NBP7	PCSK9_HUMAN	V	620	ENSP00000303208:E620V	ENSP00000303208:E620V	E	+	2	0	PCSK9	55299813	0.993000	0.37304	0.889000	0.34880	0.184000	0.23303	2.229000	0.42990	1.571000	0.49722	0.379000	0.24179	GAG	-	NULL		0.627	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	protein_coding	OTTHUMT00000022280.1	A	NM_174936		55299813	+1	no_errors	NM_174936	genbank	human	reviewed	54_36p	missense	SNP	0.831	T
ZNF713	349075	genome.wustl.edu	37	7	55980378	55980378	+	Nonsense_Mutation	SNP	G	G	T	rs367619077		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:55980378G>T	ENST00000429591.2	+	1	48	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	MRPS17_ENST00000426595.1_Nonsense_Mutation_p.E4*|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	4	Poly-Glu.				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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATGGAGGAGGAAGAAATGAA	0.403																																																0			7											130.0	124.0	126.0					7																	55980378		2203	4300	6503	55947872	SO:0001587	stop_gained	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.10G>T	7.37:g.55980378G>T	ENSP00000416662:p.Glu4*		55947872		Nonsense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.E4*	ENST00000429591.2	37	c.10	CCDS34639.1	7	.	.	.	.	.	.	.	.	.	.	A	44	11.062367	0.99510	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	.	.	.	2.62	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.5759	0.12234	0.7002:0.0:0.2998:0.0	.	.	.	.	X	4	.	ENSP00000390331:E4X	E	+	1	0	RP11-15K19.2;ZNF713	55947872	0.012000	0.17670	0.799000	0.32177	0.921000	0.55340	0.523000	0.22925	0.037000	0.15575	-0.360000	0.07572	GAA	-	NULL		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF713	protein_coding	OTTHUMT00000343297.1	G	NM_182633		55947872	+1	no_errors	NM_182633	genbank	human	provisional	54_36p	nonsense	SNP	0.041	T
C8B	732	genome.wustl.edu	37	1	57425840	57425840	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:57425840C>A	ENST00000371237.4	-	2	168	c.102G>T	c.(100-102)agG>agT	p.R34S	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	34					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGAATGTGGCCTTTCACCTC	0.398																																																0			1											131.0	115.0	120.0					1																	57425840		2203	4300	6503	57198428	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.102G>T	1.37:g.57425840C>A	ENSP00000360281:p.Arg34Ser		57198428	A1L4K7	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,PatternScan_EGF_1	p.R34S	ENST00000371237.4	37	c.102	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672566	0.14776	.	.	ENSG00000021852	ENST00000371237	T	0.24151	1.87	4.42	1.55	0.23275	.	0.885835	0.09826	N	0.750781	T	0.15478	0.0373	L	0.29908	0.895	0.09310	N	0.999997	B	0.22276	0.067	B	0.17433	0.018	T	0.35176	-0.9799	10	0.08837	T	0.75	-3.4156	7.7045	0.28642	0.0:0.6543:0.0:0.3457	.	34	P07358	CO8B_HUMAN	S	34	ENSP00000360281:R34S	ENSP00000360281:R34S	R	-	3	2	C8B	57198428	0.000000	0.05858	0.030000	0.17652	0.207000	0.24258	-0.532000	0.06164	0.387000	0.25024	0.563000	0.77884	AGG	-	NULL		0.398	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	protein_coding	OTTHUMT00000022886.2	C			57198428	-1	no_errors	NM_000066	genbank	human	reviewed	54_36p	missense	SNP	0.339	A
FAM3D	131177	genome.wustl.edu	37	3	58635049	58635049	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:58635049C>G	ENST00000358781.2	-	4	448	c.138G>C	c.(136-138)aaG>aaC	p.K46N		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	46					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CACGGATCTCCTTGGTGGGCG	0.632																																																0			3											88.0	82.0	84.0					3																	58635049		2203	4300	6503	58610089	SO:0001583	missense	131177			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.138G>C	3.37:g.58635049C>G	ENSP00000351632:p.Lys46Asn		58610089	Q547G2	Missense_Mutation	SNP	NULL	p.K46N	ENST00000358781.2	37	c.138	CCDS2893.1	3	.	.	.	.	.	.	.	.	.	.	C	6.367	0.435823	0.12104	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	T;T;T;T	0.31510	1.58;1.93;1.49;1.58	3.66	1.29	0.21616	.	2.198370	0.01763	N	0.030684	T	0.28797	0.0714	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12192	-1.0557	10	0.16896	T	0.51	-0.1444	5.5545	0.17109	0.0:0.685:0.0:0.315	.	46	Q96BQ1	FAM3D_HUMAN	N	46;45;9;46	ENSP00000351632:K46N;ENSP00000417099:K45N;ENSP00000417453:K9N;ENSP00000418982:K46N	ENSP00000351632:K46N	K	-	3	2	FAM3D	58610089	0.027000	0.19231	0.011000	0.14972	0.060000	0.15804	1.011000	0.29911	0.272000	0.22027	0.491000	0.48974	AAG	-	NULL		0.632	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	protein_coding	OTTHUMT00000353494.1	C	NM_138805		58610089	-1	no_errors	NM_138805	genbank	human	validated	54_36p	missense	SNP	0.005	G
C20orf166	128826	genome.wustl.edu	37	20	61162305	61162305	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr20:61162305C>G	ENST00000370527.3	+	3	897	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E	C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron|MIR133A2_ENST00000347538.2_RNA	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TGGTCAGCTCCAAGTAAGTGA	0.697																																																0			20											9.0	12.0	11.0					20																	61162305		1261	2242	3503	60572750	SO:0001583	missense	128826			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"""MIR133A2 host gene"""						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.118C>G	20.37:g.61162305C>G	ENSP00000359558:p.Gln40Glu		60572750		Missense_Mutation	SNP	NULL	p.Q40E	ENST00000370527.3	37	c.118	CCDS46627.1	20	.	.	.	.	.	.	.	.	.	.	C	10.69	1.419980	0.25552	.	.	ENSG00000174407	ENST00000370527	T	0.37584	1.19	3.47	2.38	0.29361	.	.	.	.	.	T	0.32763	0.0840	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	P	0.62491	0.903	T	0.29792	-1.0000	9	0.87932	D	0	.	9.4243	0.38570	0.2129:0.7871:0.0:0.0	.	40	Q9H1L0	CT166_HUMAN	E	40	ENSP00000359558:Q40E	ENSP00000359558:Q40E	Q	+	1	0	C20orf166	60572750	0.993000	0.37304	0.109000	0.21407	0.288000	0.27193	2.179000	0.42528	1.874000	0.54306	0.313000	0.20887	CAA	-	NULL		0.697	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf166	protein_coding	OTTHUMT00000109262.1	C	NM_178463		60572750	+1	no_errors	NM_178463	genbank	human	validated	54_36p	missense	SNP	0.908	G
NLRP13	126204	genome.wustl.edu	37	19	56423113	56423113	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr19:56423113A>G	ENST00000342929.3	-	5	2069	c.2070T>C	c.(2068-2070)tcT>tcC	p.S690S	NLRP13_ENST00000588751.1_Silent_p.S690S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	690							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACTGCTAACAGAAAGCCTTA	0.388																																																0			19											90.0	98.0	95.0					19																	56423113		2203	4300	6503	61114925	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2070T>C	19.37:g.56423113A>G			61114925	Q7RTR5	Silent	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1	p.S690	ENST00000342929.3	37	c.2070	CCDS33119.1	19																																																																																			-	superfamily_SSF52047		0.388	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	A	NM_176810		61114925	-1	no_errors	NM_176810	genbank	human	validated	54_36p	silent	SNP	0.016	G
USP29	57663	genome.wustl.edu	37	19	57640847	57640847	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr19:57640847A>G	ENST00000254181.4	+	4	1258	c.804A>G	c.(802-804)agA>agG	p.R268R	USP29_ENST00000598197.1_Silent_p.R268R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	268					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGACCCAAGATGCAACAAAG	0.473																																																0			19											86.0	85.0	85.0					19																	57640847		2203	4300	6503	62332659	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.804A>G	19.37:g.57640847A>G			62332659		Silent	SNP	superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.R268	ENST00000254181.4	37	c.804	CCDS33124.1	19																																																																																			-	NULL		0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	protein_coding	OTTHUMT00000465075.1	A			62332659	+1	no_errors	NM_020903	genbank	human	validated	54_36p	silent	SNP	0.000	G
TK2	7084	genome.wustl.edu	37	16	66575787	66575787	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:66575787C>T	ENST00000451102.2	-	3	576	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	TK2_ENST00000545043.2_Intron|TK2_ENST00000544898.1_Missense_Mutation_p.V27I|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000527284.1_Missense_Mutation_p.V45I|TK2_ENST00000527800.1_5'UTR|TK2_ENST00000299697.7_Missense_Mutation_p.V118I|TK2_ENST00000564917.1_Missense_Mutation_p.V76I|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000417693.3_Missense_Mutation_p.V76I			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	76					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TGTACCTCGACGTCTGTCGCG	0.463																																																0			16											119.0	94.0	103.0					16																	66575787		2201	4300	6501	65133288	SO:0001583	missense	7084				CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.226G>A	16.37:g.66575787C>T	ENSP00000414334:p.Val76Ile		65133288	B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_dNK	p.V118I	ENST00000451102.2	37	c.352	CCDS10805.2	16	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299754	0.05532	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000451102;ENST00000527284;ENST00000544898	D;D;D;D;D	0.92911	-3.13;-3.06;-3.13;-3.13;-3.13	6.16	-2.28	0.06826	.	0.357658	0.30809	N	0.008838	T	0.77082	0.4078	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B	0.17852	0.004;0.024;0.012;0.007;0.009	B;B;B;B;B	0.15484	0.003;0.007;0.002;0.007;0.013	T	0.65639	-0.6119	10	0.02654	T	1	-6.1007	7.2819	0.26316	0.0:0.5487:0.1486:0.3028	.	76;27;40;118;45	O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	KITM_HUMAN;.;.;.;.	I	118;76;76;45;27	ENSP00000299697:V118I;ENSP00000407469:V76I;ENSP00000414334:V76I;ENSP00000435312:V45I;ENSP00000440898:V27I	ENSP00000299697:V118I	V	-	1	0	TK2	65133288	0.066000	0.20996	0.000000	0.03702	0.003000	0.03518	0.244000	0.18124	-0.375000	0.07955	0.650000	0.86243	GTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.463	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TK2	protein_coding	OTTHUMT00000268806.4	C			65133288	-1	no_errors	NM_004614	genbank	human	validated	54_36p	missense	SNP	0.009	T
MDM1	56890	genome.wustl.edu	37	12	68717004	68717004	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr12:68717004C>G	ENST00000303145.7	-	5	736	c.650G>C	c.(649-651)aGc>aCc	p.S217T	MDM1_ENST00000411698.2_Missense_Mutation_p.S172T|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	217					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AACAAACTGGCTTTTATTGTG	0.294																																																0			12											85.0	86.0	86.0					12																	68717004		2203	4300	6503	67003271	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.650G>C	12.37:g.68717004C>G	ENSP00000302537:p.Ser217Thr		67003271	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.S217T	ENST00000303145.7	37	c.650	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493702	0.44352	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.24151	1.87;1.87;1.87	4.65	3.74	0.42951	.	0.109202	0.64402	D	0.000006	T	0.31389	0.0795	M	0.70595	2.14	0.80722	D	1	P;P	0.52316	0.952;0.829	P;B	0.47626	0.552;0.393	T	0.06516	-1.0822	9	.	.	.	-7.2739	7.4248	0.27092	0.0:0.7076:0.1421:0.1504	.	172;217	E7EPQ3;Q8TC05	.;MDM1_HUMAN	T	217;172;212	ENSP00000302537:S217T;ENSP00000391006:S172T;ENSP00000446000:S212T	.	S	-	2	0	MDM1	67003271	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	1.142000	0.31540	1.253000	0.44018	0.491000	0.48974	AGC	-	NULL		0.294	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	protein_coding	OTTHUMT00000402402.1	C	NM_020128		67003271	-1	no_errors	NM_017440	genbank	human	reviewed	54_36p	missense	SNP	0.976	G
SLC16A2	6567	genome.wustl.edu	37	X	73745664	73745664	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:73745664T>A	ENST00000587091.1	+	4	1283	c.1106T>A	c.(1105-1107)cTt>cAt	p.L369H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.L443H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	369					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ACCTCAGGCCTTGGGCGTCTT	0.507																																																0			X											187.0	157.0	167.0					X																	73745664		2203	4300	6503	73662389	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1106T>A	X.37:g.73745664T>A	ENSP00000465734:p.Leu369His		73662389	Q7Z797	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.L443H	ENST00000587091.1	37	c.1328	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867353	0.72065	.	.	ENSG00000147100	ENST00000276033	T	0.59224	0.28	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.240945	0.36665	N	0.002480	T	0.67850	0.2937	L	0.48642	1.525	0.43462	D	0.995662	D	0.67145	0.996	D	0.64506	0.926	T	0.71411	-0.4601	10	0.87932	D	0	.	13.8619	0.63566	0.0:0.0:0.0:1.0	.	369	P36021	MOT8_HUMAN	H	443	ENSP00000276033:L443H	ENSP00000276033:L443H	L	+	2	0	SLC16A2	73662389	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.695000	0.84257	1.647000	0.50633	0.483000	0.47432	CTT	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	protein_coding	OTTHUMT00000057266.3	T			73662389	+1	no_errors	NM_006517	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
PCSK5	5125	genome.wustl.edu	37	9	78710934	78710934	+	Silent	SNP	C	C	T	rs370286991		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376752.4_Silent_p.S341S|PCSK5_ENST00000376767.3_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512																																																0			9						C	,	1,4405	2.1+/-5.4	0,1,2202	165.0	132.0	143.0		1023,1023	-11.5	0.2	9		143	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCSK5	NM_001190482.1,NM_006200.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	341/1861,341/914	78710934	1,13005	2203	4300	6503	77900754	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1023C>T	9.37:g.78710934C>T			77900754	F5H2G7|Q13527|Q96EP4	Silent	SNP	superfamily_Protease propeptides/inhibitors,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Galactose-binding domain-like,HMMPfam_P_proprotein,HMMSmart_SM00261,superfamily_Growth factor receptor domain,HMMPfam_PLAC	p.S341	ENST00000545128.1	37	c.1023	CCDS55320.1	9																																																																																			-	superfamily_Subtilisin-like,HMMPfam_Peptidase_S8		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	protein_coding		C			77900754	+1	no_errors	NM_006200	genbank	human	reviewed	54_36p	silent	SNP	0.988	T
FOXL1	2300	genome.wustl.edu	37	16	86612832	86612832	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr16:86612832C>G	ENST00000320241.3	+	1	718	c.503C>G	c.(502-504)gCg>gGg	p.A168G		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	168					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGCGCGGAGGCGCAGCCGGAG	0.796																																					NSCLC(163;308 2020 10889 11476 18208)											0			16											2.0	3.0	3.0					16																	86612832		1264	2759	4023	85170333	SO:0001583	missense	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.503C>G	16.37:g.86612832C>G	ENSP00000326272:p.Ala168Gly		85170333	Q17RR1|Q9H242	Missense_Mutation	SNP	HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2	p.A168G	ENST00000320241.3	37	c.503	CCDS10959.1	16	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.933860	0.00488	.	.	ENSG00000176678	ENST00000320241	D	0.94576	-3.46	4.02	-0.634	0.11516	.	12.630600	0.02160	U	0.058714	D	0.87653	0.6231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77091	-0.2716	10	0.15066	T	0.55	.	5.0227	0.14369	0.0:0.4654:0.2828:0.2518	.	168	Q12952	FOXL1_HUMAN	G	168	ENSP00000326272:A168G	ENSP00000326272:A168G	A	+	2	0	FOXL1	85170333	0.001000	0.12720	0.006000	0.13384	0.001000	0.01503	-2.060000	0.01392	0.035000	0.15519	-1.471000	0.01009	GCG	-	NULL		0.796	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL1	protein_coding	OTTHUMT00000269105.2	C	NM_005250		85170333	+1	no_errors	NM_005250	genbank	human	validated	54_36p	missense	SNP	0.000	G
DACH2	117154	genome.wustl.edu	37	X	85415437	85415437	+	Intron	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:85415437G>C	ENST00000373125.4	+	1	488				DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGCATCACCGGACTTCAAGAA	0.458																																																0			X																																								85302093	SO:0001627	intron_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.488+11325G>C	X.37:g.85415437G>C			85302093	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	p.S303C	ENST00000373125.4	37	c.908	CCDS14455.1	X																																																																																			-	HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain		0.458	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130211	protein_coding	OTTHUMT00000359266.1	G	NM_053281		85302093	-1	pseudogene	XM_001717632	genbank	human	model	54_36p	missense	SNP	1.000	C
CA3	761	genome.wustl.edu	37	8	86358467	86358467	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:86358467T>G	ENST00000285381.2	+	6	687	c.604T>G	c.(604-606)Tgc>Ggc	p.C202G	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	202					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CACGCCGCCCTGCGAGGAATG	0.602																																																0			8											67.0	54.0	59.0					8																	86358467		2203	4300	6503	86545719	SO:0001583	missense	761			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.604T>G	8.37:g.86358467T>G	ENSP00000285381:p.Cys202Gly		86545719	B2R867|B3KUC8|O60842	Missense_Mutation	SNP	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1	p.C202G	ENST00000285381.2	37	c.604	CCDS6238.1	8	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248261	0.80024	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.55588	0.51	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.104411	0.64402	D	0.000001	T	0.81950	0.4931	H	0.97635	4.045	0.49798	D	0.999828	D	0.76494	0.999	D	0.68621	0.959	D	0.88088	0.2811	10	0.66056	D	0.02	-24.4279	15.8088	0.78538	0.0:0.0:0.0:1.0	.	202	P07451	CAH3_HUMAN	G	202;186	ENSP00000285381:C202G	ENSP00000285381:C202G	C	+	1	0	CA3	86545719	0.994000	0.37717	0.996000	0.52242	0.964000	0.63967	3.161000	0.50747	2.330000	0.79161	0.528000	0.53228	TGC	-	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase		0.602	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA3	protein_coding	OTTHUMT00000381090.1	T	NM_005181		86545719	+1	no_errors	NM_005181	genbank	human	reviewed	54_36p	missense	SNP	0.999	G
CLCA2	9635	genome.wustl.edu	37	1	86913415	86913415	+	Silent	SNP	A	A	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:86913415A>G	ENST00000370565.4	+	11	2100	c.1938A>G	c.(1936-1938)ccA>ccG	p.P646P		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	646					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGTTGAGCCAGAGACTGGAG	0.438																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											0			1											84.0	80.0	82.0					1																	86913415		2203	4300	6503	86686003	SO:0001819	synonymous_variant	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1938A>G	1.37:g.86913415A>G			86686003	A8K2T3|Q9Y6N2	Silent	SNP	HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973	p.P646	ENST00000370565.4	37	c.1938	CCDS708.1	1																																																																																			-	HMMPfam_DUF1973		0.438	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	protein_coding	OTTHUMT00000028284.1	A	NM_006536		86686003	+1	no_errors	NM_006536	genbank	human	reviewed	54_36p	silent	SNP	0.003	G
Unknown	0	genome.wustl.edu	37	X	89294739	89294739	+	IGR	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chrX:89294739G>A								TGIF2LX (116857 upstream) : RNU6-555P (557494 downstream)																							ACAAATTCTCGACATCGAGGC	0.418																																																0			X																																								89181395	SO:0001628	intergenic_variant	0																															X.37:g.89294739G>A			89181395		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.418					LOC100130134			G			89181395	-1	pseudogene	XR_037810	genbank	human	model	54_36p	rna	SNP	0.584	A
NBN	4683	genome.wustl.edu	37	8	90994998	90994998	+	Silent	SNP	G	G	A	rs587781891		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:90994998G>A	ENST00000265433.3	-	2	277	c.123C>T	c.(121-123)atC>atT	p.I41I	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	41	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GATTTCGGCTGATCGACTGAT	0.378								Homologous recombination																																								0			8											135.0	125.0	129.0					8																	90994998		2203	4300	6503	91064174	SO:0001819	synonymous_variant	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.123C>T	8.37:g.90994998G>A			91064174	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_BRCT,HMMPfam_Nbs1_C	p.I41	ENST00000265433.3	37	c.123	CCDS6249.1	8																																																																																			-	superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA		0.378	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	protein_coding	OTTHUMT00000331583.3	G	NM_001024688		91064174	-1	no_errors	NM_002485	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91809027	91809027	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:91809027G>A	ENST00000370425.3	-	20	2393	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	HFM1_ENST00000370424.3_Silent_p.D444D|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	765					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTTTATTAAGTCCAGGGATG	0.249																																																0			1											28.0	28.0	28.0					1																	91809027		2189	4256	6445	91581615	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2295C>T	1.37:g.91809027G>A			91581615	B1B0B6|Q8N9Q0	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_Sec63	p.D765	ENST00000370425.3	37	c.2295	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739925	0.15642	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.35	3.4	0.38934	.	.	.	.	.	T	0.30293	0.0760	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.18777	-1.0326	4	.	.	.	.	3.3418	0.07122	0.3633:0.0:0.4593:0.1774	.	.	.	.	I	21	.	.	T	-	2	0	HFM1	91581615	0.817000	0.29147	0.998000	0.56505	0.996000	0.88848	0.017000	0.13399	0.548000	0.28955	0.460000	0.39030	ACT	-	NULL		0.249	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91581615	-1	no_errors	NM_001017975	genbank	human	validated	54_36p	silent	SNP	0.147	A
SLC24A4	123041	genome.wustl.edu	37	14	92959964	92959964	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:92959964G>A	ENST00000532405.1	+	17	2087	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	SLC24A4_ENST00000531433.1_Missense_Mutation_p.D602N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D585N|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D557N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D604N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	621					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGCCGGGAAGACGATTAGCG	0.562																																					NSCLC(10;315 435 10383 28450 38798)											0			14											135.0	110.0	119.0					14																	92959964		2203	4300	6503	92029717	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1861G>A	14.37:g.92959964G>A	ENSP00000431840:p.Asp621Asn		92029717	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex	p.D604N	ENST00000532405.1	37	c.1810	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991943	0.74703	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.70282	-0.41;-0.04;-0.02;-0.44;-0.47	5.51	5.51	0.81932	.	0.415507	0.24044	N	0.042069	T	0.51109	0.1655	N	0.02802	-0.49	0.58432	D	0.999998	B;B	0.28512	0.214;0.139	B;B	0.24006	0.05;0.025	T	0.56463	-0.7975	10	0.72032	D	0.01	.	19.4056	0.94646	0.0:0.0:1.0:0.0	.	602;621	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	N	557;602;621;604;585	ENSP00000376948:D557N;ENSP00000433302:D602N;ENSP00000431840:D621N;ENSP00000298877:D604N;ENSP00000337789:D585N	ENSP00000298877:D604N	D	+	1	0	SLC24A4	92029717	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	5.306000	0.65756	2.582000	0.87167	0.655000	0.94253	GAC	-	NULL		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	G	NM_153646		92029717	+1	no_errors	NM_153646	genbank	human	validated	54_36p	missense	SNP	1.000	A
SERPINA10	51156	genome.wustl.edu	37	14	94756559	94756559	+	Silent	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr14:94756559G>T	ENST00000393096.1	-	2	837	c.372C>A	c.(370-372)atC>atA	p.I124I	SERPINA10_ENST00000554723.1_Silent_p.I164I|SERPINA10_ENST00000261994.4_Silent_p.I124I|SERPINA10_ENST00000554173.1_Silent_p.I124I	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	124					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCCTCTCTTGATCTGGGTTT	0.597																																																0			14											49.0	51.0	50.0					14																	94756559		2203	4300	6503	93826312	SO:0001819	synonymous_variant	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.372C>A	14.37:g.94756559G>T			93826312	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN	p.I124	ENST00000393096.1	37	c.372	CCDS9923.1	14																																																																																			-	superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN		0.597	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	protein_coding	OTTHUMT00000413061.1	G	NM_016186		93826312	-1	no_errors	NM_001100607	genbank	human	validated	54_36p	silent	SNP	0.000	T
GPR183	1880	genome.wustl.edu	37	13	99947951	99947951	+	Missense_Mutation	SNP	C	C	T	rs373174545		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr13:99947951C>T	ENST00000376414.4	-	2	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	150					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TATGCACACGCCTTTTGCATG	0.458																																																0			13						C	ASP/GLY,,	1,4405	2.1+/-5.4	0,1,2202	164.0	128.0	140.0		449,,	5.1	0.0	13		140	0,8600		0,0,4300	no	missense,intron,intron	GPR183,UBAC2	NM_004951.4,NM_001144072.1,NM_177967.3	94,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,,	150/362,,	99947951	1,13005	2203	4300	6503	98745952	SO:0001583	missense	1880			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.449G>A	13.37:g.99947951C>T	ENSP00000365596:p.Gly150Asp		98745952	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G150D	ENST00000376414.4	37	c.449	CCDS9492.1	13	.	.	.	.	.	.	.	.	.	.	C	7.080	0.569979	0.13560	2.27E-4	0.0	ENSG00000169508	ENST00000376414	T	0.72394	-0.65	5.91	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.368812	0.31821	N	0.007004	T	0.63165	0.2488	L	0.49778	1.585	0.09310	N	1	P	0.36282	0.546	B	0.39531	0.302	T	0.57124	-0.7865	9	.	.	.	.	6.3362	0.21296	0.1389:0.6581:0.1337:0.0693	.	150	P32249	GP183_HUMAN	D	150	ENSP00000365596:G150D	.	G	-	2	0	GPR183	98745952	0.020000	0.18652	0.011000	0.14972	0.362000	0.29581	2.192000	0.42649	1.477000	0.48234	0.655000	0.94253	GGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.458	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	protein_coding	OTTHUMT00000045582.2	C	NM_004951		98745952	-1	no_errors	NM_004951	genbank	human	reviewed	54_36p	missense	SNP	0.033	T
EIF3E	3646	genome.wustl.edu	37	8	109215647	109215647	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:109215647T>C	ENST00000220849.5	-	11	1209	c.1147A>G	c.(1147-1149)Aag>Gag	p.K383E	EIF3E_ENST00000519517.1_5'Flank|EIF3E_ENST00000519030.1_Missense_Mutation_p.K290E	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GAATCAATCTTGGCATCCAGT	0.323																																					GBM(15;360 410 8460 34179 52246)											0			8											130.0	125.0	127.0					8																	109215647		2203	4299	6502	109284823	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1147A>G	8.37:g.109215647T>C	ENSP00000220849:p.Lys383Glu		109284823		Missense_Mutation	SNP	"HMMPfam_eIF3_N,HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain"	p.K383E	ENST00000220849.5	37	c.1147	CCDS6308.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.868474|4.868474	0.91587|0.91587	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519030|ENST00000522352	T;T|.	0.37058|.	1.22;1.22|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88040|0.88040	0.6330|0.6330	H|H	0.96916|0.96916	3.905|3.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.92025|0.92025	0.5629|0.5629	10|5	0.87932|.	D|.	0|.	-16.9826|-16.9826	15.9589|15.9589	0.79910|0.79910	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	383|.	P60228|.	EIF3E_HUMAN|.	E|R	383;290|93	ENSP00000220849:K383E;ENSP00000428796:K290E|.	ENSP00000220849:K383E|.	K|Q	-|-	1|2	0|0	EIF3E|EIF3E	109284823|109284823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.018000|8.018000	0.88722|0.88722	2.178000|2.178000	0.69098|0.69098	0.477000|0.477000	0.44152|0.44152	AAG|CAA	-	"HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain"		0.323	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	protein_coding	OTTHUMT00000380612.2	T	NM_001568		109284823	-1	no_errors	NM_001568	genbank	human	validated	54_36p	missense	SNP	1.000	C
CCDC112	153733	genome.wustl.edu	37	5	114605435	114605435	+	Missense_Mutation	SNP	G	G	C	rs368586091		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:114605435G>C	ENST00000512261.1	-	9	1560	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	CCDC112_ENST00000506442.1_Intron|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382E|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q465E			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTTGTTTTTGTGACTTTTCA	0.308																																																0			5											180.0	169.0	172.0					5																	114605435		2200	4294	6494	114633334	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1144C>G	5.37:g.114605435G>C	ENSP00000423712:p.Gln382Glu		114633334	Q6A334	Missense_Mutation	SNP	NULL	p.Q465E	ENST00000512261.1	37	c.1393	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528649	0.04112	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000395557	T;T;T	0.13538	2.59;2.58;2.58	5.35	3.57	0.40892	.	0.314007	0.33180	N	0.005185	T	0.02267	0.0070	N	0.00210	-1.845	0.21256	N	0.999748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43114	-0.9411	10	0.02654	T	1	-8.6957	7.193	0.25837	0.0:0.6999:0.1477:0.1524	.	465;382	Q8NEF3-2;Q8NEF3	.;CC112_HUMAN	E	465;382;382	ENSP00000368931:Q465E;ENSP00000423712:Q382E;ENSP00000378925:Q382E	ENSP00000368931:Q465E	Q	-	1	0	CCDC112	114633334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.700000	0.37815	0.743000	0.32719	-0.171000	0.13296	CAA	-	NULL		0.308	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	protein_coding	OTTHUMT00000370999.1	G	NM_152549		114633334	-1	no_errors	NM_001040440	genbank	human	validated	54_36p	missense	SNP	1.000	C
PTPRZ1	5803	genome.wustl.edu	37	7	121691510	121691510	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:121691510G>C	ENST00000393386.2	+	24	6524	c.6113G>C	c.(6112-6114)aGt>aCt	p.S2038T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S1171T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2038	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATACAGCAGAGTGACTATTCT	0.378																																																0			7											94.0	96.0	95.0					7																	121691510		2203	4300	6503	121478746	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6113G>C	7.37:g.121691510G>C	ENSP00000377047:p.Ser2038Thr		121478746	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.S2038T	ENST00000393386.2	37	c.6113	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948137	0.34377	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11169	2.8;2.8	5.63	4.73	0.59995	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.067375	0.64402	D	0.000007	T	0.11707	0.0285	L	0.41492	1.28	0.26883	N	0.967495	B;B;B	0.31968	0.001;0.154;0.349	B;B;B	0.35312	0.004;0.167;0.2	T	0.15150	-1.0447	10	0.16896	T	0.51	.	16.4255	0.83813	0.0:0.1316:0.8684:0.0	.	1177;1171;2038	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	2038;1171	ENSP00000377047:S2038T;ENSP00000410000:S1171T	ENSP00000377047:S2038T	S	+	2	0	PTPRZ1	121478746	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.323000	0.65858	1.330000	0.45394	0.650000	0.86243	AGT	-	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	G	NM_002851		121478746	+1	no_errors	NM_002851	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SEC23IP	11196	genome.wustl.edu	37	10	121677541	121677541	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:121677541G>T	ENST00000369075.3	+	9	1810	c.1738G>T	c.(1738-1740)Gct>Tct	p.A580S	SEC23IP_ENST00000543134.1_Missense_Mutation_p.A369S	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	580					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTCTCTGTTGCTGGTCACAG	0.373																																																0			10											85.0	84.0	84.0					10																	121677541		2203	4300	6503	121667531	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1738G>T	10.37:g.121677541G>T	ENSP00000358071:p.Ala580Ser		121667531	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD	p.A580S	ENST00000369075.3	37	c.1738	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810795	0.50421	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.41758	0.99;0.99	5.62	5.62	0.85841	.	0.141664	0.64402	D	0.000007	T	0.40815	0.1132	L	0.37630	1.12	0.54753	D	0.999983	P;P	0.45672	0.825;0.864	B;B	0.44315	0.446;0.423	T	0.05273	-1.0895	10	0.20519	T	0.43	-24.4866	20.024	0.97514	0.0:0.0:1.0:0.0	.	369;580	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	S	580;369	ENSP00000358071:A580S;ENSP00000438773:A369S	ENSP00000358071:A580S	A	+	1	0	SEC23IP	121667531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.388000	0.59633	2.809000	0.96659	0.655000	0.94253	GCT	-	NULL		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	protein_coding	OTTHUMT00000050688.1	G			121667531	+1	no_errors	NM_007190	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
HSPA8	3312	genome.wustl.edu	37	11	122929740	122929740	+	Intron	SNP	C	C	A	rs374287152		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr11:122929740C>A	ENST00000532636.1	-	6	1443				HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000534319.1_Intron|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Intron|HSPA8_ENST00000534624.1_Intron|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TATCAGTAAGCCAAACAAGAG	0.428																																					Colon(21;486 594 5900 6733 14272)											0			11											66.0	59.0	61.0					11																	122929740		2202	4299	6501	122434950	SO:0001627	intron_variant	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1323+26G>T	11.37:g.122929740C>A			122434950	Q9H3R6	RNA	SNP	-	NULL	ENST00000532636.1	37	NULL	CCDS8440.1	11																																																																																			-	-		0.428	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	LOC85390	protein_coding	OTTHUMT00000387515.1	C			122434950	-1	no_errors	NR_001454	genbank	human	provisional	54_36p	rna	SNP	0.000	A
ARGFX	503582	genome.wustl.edu	37	3	121305004	121305004	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr3:121305004T>A	ENST00000334384.3	+	4	515	c.505T>A	c.(505-507)Tct>Act	p.S169T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTATGCTTTTTCTCCTGTGAT	0.498																																																0			3											177.0	162.0	167.0					3																	121305004		2203	4300	6503	122787694	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.505T>A	3.37:g.121305004T>A	ENSP00000335578:p.Ser169Thr		122787694		Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.S169T	ENST00000334384.3	37	c.505	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	T	4.943	0.175271	0.09391	.	.	ENSG00000186103	ENST00000334384	D	0.89270	-2.49	3.32	-2.43	0.06522	.	2.252040	0.02080	N	0.052262	T	0.72700	0.3493	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.66610	-0.5880	10	0.02654	T	1	2.5742	0.3464	0.00342	0.1918:0.2603:0.1963:0.3516	.	169	A6NJG6	ARGFX_HUMAN	T	169	ENSP00000335578:S169T	ENSP00000335578:S169T	S	+	1	0	ARGFX	122787694	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.028000	0.13644	-0.441000	0.07201	0.459000	0.35465	TCT	-	NULL		0.498	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	protein_coding	OTTHUMT00000355096.2	T	NM_001012659		122787694	+1	no_errors	NM_001012659	genbank	human	validated	54_36p	missense	SNP	0.000	A
LAMC3	10319	genome.wustl.edu	37	9	133911674	133911674	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr9:133911674C>G	ENST00000361069.4	+	4	1064	c.931C>G	c.(931-933)Cgc>Ggc	p.R311G	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	311	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTTCCAGGACCGCCCGTGGGC	0.701																																																0			9											21.0	25.0	24.0					9																	133911674		2191	4291	6482	132901495	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.931C>G	9.37:g.133911674C>G	ENSP00000354360:p.Arg311Gly		132901495	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2	p.R311G	ENST00000361069.4	37	c.931	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333300	0.60853	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61627	0.09	5.06	5.06	0.68205	EGF-like, laminin (4);	0.058151	0.64402	D	0.000002	D	0.84192	0.5418	H	0.96720	3.87	0.58432	D	0.999993	D	0.69078	0.997	D	0.76071	0.987	D	0.89856	0.4013	10	0.72032	D	0.01	.	17.3931	0.87437	0.0:1.0:0.0:0.0	.	311	Q9Y6N6	LAMC3_HUMAN	G	311	ENSP00000354360:R311G	ENSP00000325873:R311G	R	+	1	0	LAMC3	132901495	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	2.420000	0.44679	2.334000	0.79466	0.462000	0.41574	CGC	-	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1		0.701	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	C	NM_006059		132901495	+1	no_errors	NM_006059	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
DPYSL4	10570	genome.wustl.edu	37	10	134012382	134012382	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr10:134012382G>C	ENST00000338492.4	+	8	882	c.718G>C	c.(718-720)Gtc>Ctc	p.V240L	DPYSL4_ENST00000368627.1_Missense_Mutation_p.V140L|DPYSL4_ENST00000368629.1_Missense_Mutation_p.V140L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	240					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GTACCGAGCTGTCACCATCGC	0.652																																																0			10											81.0	68.0	72.0					10																	134012382		2203	4299	6502	133862372	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.718G>C	10.37:g.134012382G>C	ENSP00000339850:p.Val240Leu		133862372	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases	p.V240L	ENST00000338492.4	37	c.718	CCDS7665.1	10	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821510	0.32237	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89875	-2.58;-2.58;-2.58	3.66	-4.04	0.04010	Amidohydrolase 1 (1);	0.617453	0.14444	N	0.319192	T	0.70509	0.3232	N	0.01482	-0.84	0.20703	N	0.999861	B	0.23490	0.086	B	0.25759	0.063	T	0.59537	-0.7436	10	0.62326	D	0.03	-18.7234	13.1904	0.59706	0.8602:0.0:0.1398:0.0	.	240	O14531	DPYL4_HUMAN	L	240;140;140	ENSP00000339850:V240L;ENSP00000357618:V140L;ENSP00000357616:V140L	ENSP00000339850:V240L	V	+	1	0	DPYSL4	133862372	0.021000	0.18746	0.133000	0.22050	0.701000	0.40568	0.340000	0.19892	-0.773000	0.04596	-0.377000	0.06932	GTC	-	superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases		0.652	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	protein_coding	OTTHUMT00000051050.2	G			133862372	+1	no_errors	NM_006426	genbank	human	validated	54_36p	missense	SNP	0.186	C
PCDHA1	56147	genome.wustl.edu	37	5	140167318	140167318	+	Silent	SNP	C	C	T	rs562316404		TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:140167318C>T	ENST00000504120.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000394633.3_Silent_p.D481D|PCDHA1_ENST00000378133.3_Silent_p.D481D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGGGACGCGGACGCGC	0.652													.|||	1	0.000199681	0.0	0.0	5008	,	,		19134	0.0		0.0	False		,,,				2504	0.001															0			5											65.0	69.0	68.0					5																	140167318		2203	4299	6502	140147502	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1443C>T	5.37:g.140167318C>T			140147502	O75288|Q9NRT7	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.D481	ENST00000504120.2	37	c.1443	CCDS54913.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.652	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140147502	+1	no_errors	NM_018900	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
EPHB6	2051	genome.wustl.edu	37	7	142566375	142566375	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr7:142566375G>A	ENST00000392957.2	+	15	2951	c.2164G>A	c.(2164-2166)Gtg>Atg	p.V722M	EPHB6_ENST00000411471.2_Missense_Mutation_p.V445M|EPHB6_ENST00000442129.1_Missense_Mutation_p.V722M	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	722	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGGGCCGCAGTGCTGGGTCA	0.687																																																0			7											29.0	30.0	30.0					7																	142566375		2203	4300	6503	142276497	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2164G>A	7.37:g.142566375G>A	ENSP00000376684:p.Val722Met		142276497	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain	p.V707M	ENST00000392957.2	37	c.2119	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560905	0.45590	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.63580	-0.05;-0.05;-0.05	5.15	2.19	0.27852	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.19232	N	0.119386	T	0.49287	0.1548	N	0.17800	0.525	0.38470	D	0.947458	P;P	0.39920	0.695;0.646	P;B	0.45232	0.474;0.343	T	0.52177	-0.8610	10	0.87932	D	0	.	6.9722	0.24654	0.1065:0.4422:0.4513:0.0	.	722;445	O15197;O15197-2	EPHB6_HUMAN;.	M	722;722;445	ENSP00000376684:V722M;ENSP00000410789:V722M;ENSP00000409061:V445M	ENSP00000376684:V722M	V	+	1	0	EPHB6	142276497	0.986000	0.35501	0.548000	0.28192	0.462000	0.32619	2.524000	0.45589	0.580000	0.29522	0.491000	0.48974	GTG	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.687	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	protein_coding	OTTHUMT00000341329.1	G			142276497	+1	no_errors	NM_004445	genbank	human	reviewed	54_36p	missense	SNP	0.462	A
GPR20	2843	genome.wustl.edu	37	8	142367108	142367108	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:142367108C>A	ENST00000377741.3	-	2	1006	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	306					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGACGGTGGCCTGGAAGCCA	0.647																																																0			8											79.0	66.0	70.0					8																	142367108		2203	4300	6503	142436290	SO:0001583	missense	2843			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.916G>T	8.37:g.142367108C>A	ENSP00000366970:p.Ala306Ser		142436290	Q17R96	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A306S	ENST00000377741.3	37	c.916	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102977	0.20632	.	.	ENSG00000204882	ENST00000377741	T	0.36520	1.25	5.21	4.33	0.51752	.	0.162047	0.40728	U	0.001023	T	0.15046	0.0363	N	0.16656	0.425	0.35885	D	0.82925	P	0.34864	0.473	B	0.24848	0.056	T	0.16424	-1.0403	10	0.06494	T	0.89	-25.1832	7.2022	0.25887	0.261:0.6545:0.0:0.0845	.	306	Q99678	GPR20_HUMAN	S	306	ENSP00000366970:A306S	ENSP00000366970:A306S	A	-	1	0	GPR20	142436290	0.973000	0.33851	0.999000	0.59377	0.956000	0.61745	0.811000	0.27198	1.177000	0.42855	0.561000	0.74099	GCC	-	superfamily_Family A G protein-coupled receptor-like		0.647	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	protein_coding	OTTHUMT00000378968.1	C	NM_005293		142436290	-1	no_errors	NM_005293	genbank	human	validated	54_36p	missense	SNP	1.000	A
TSNARE1	203062	genome.wustl.edu	37	8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr8:143381940C>A	ENST00000307180.3	-	10	1314	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I|TSNARE1_ENST00000519651.1_Missense_Mutation_p.M180I|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607																																																0			8											79.0	72.0	74.0					8																	143381940		2203	4300	6503	143379847	SO:0001583	missense	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1197G>T	8.37:g.143381940C>A	ENSP00000303437:p.Met399Ile		143379847	B7ZLB0|Q14D03	Missense_Mutation	SNP	superfamily_t-snare,HMMSmart_t_SNARE,HMMPfam_SNARE	p.M399I	ENST00000307180.3	37	c.1197	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.601867	0.00849	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.76	-0.305	0.12784	t-SNARE (1);	2.770580	0.01858	U	0.036425	T	0.15046	0.0363	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.22626	-1.0211	10	0.46703	T	0.11	-20.58	3.4176	0.07381	0.3049:0.4355:0.0:0.2596	.	398;180;399;400	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	I	398;399;399;180	ENSP00000428763:M398I;ENSP00000303437:M399I;ENSP00000427770:M399I;ENSP00000429679:M180I	ENSP00000303437:M399I	M	-	3	0	TSNARE1	143379847	0.000000	0.05858	0.009000	0.14445	0.067000	0.16453	-0.444000	0.06854	-0.143000	0.11334	-0.899000	0.02877	ATG	-	superfamily_t-snare		0.607	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	protein_coding		C	NM_145003		143379847	-1	no_errors	NM_145003	genbank	human	validated	54_36p	missense	SNP	0.421	A
RAET1G	353091	genome.wustl.edu	37	6	150240387	150240387	+	Silent	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr6:150240387G>A	ENST00000367360.2	-	3	490	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L141L	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CATCGAAACTGAGCTGCCAAG	0.512																																																0			6											175.0	164.0	168.0					6																	150240387		2203	4300	6503	150282080	SO:0001819	synonymous_variant	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.423C>T	6.37:g.150240387G>A			150282080		Silent	SNP	superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I	p.L141	ENST00000367360.2	37	c.423	CCDS43514.1	6																																																																																			-	superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I		0.512	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	protein_coding	OTTHUMT00000042668.2	G			150282080	-1	no_errors	NM_001001788	genbank	human	provisional	54_36p	silent	SNP	0.001	A
RPTN	126638	genome.wustl.edu	37	1	152127455	152127455	+	Missense_Mutation	SNP	T	T	C	rs75957773	byFrequency	TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152127455T>C	ENST00000316073.3	-	3	2184	c.2120A>G	c.(2119-2121)gAa>gGa	p.E707G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	707	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCCTGCTCTTCCTCTGCCCA	0.562													T|||	281	0.0561102	0.0053	0.0965	5008	,	,		21543	0.001		0.1362	False		,,,				2504	0.0706															0			1						T	GLY/GLU	79,3057		0,79,1489	306.0	251.0	268.0		2120	2.8	0.0	1	dbSNP_131	268	981,6183		62,857,2663	yes	missense	RPTN	NM_001122965.1	98	62,936,4152	CC,CT,TT		13.6935,2.5191,10.2913	probably-damaging	707/785	152127455	1060,9240	1568	3582	5150	150394079	SO:0001583	missense	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2120A>G	1.37:g.152127455T>C	ENSP00000317895:p.Glu707Gly		150394079	B7ZBZ3	Missense_Mutation	SNP	superfamily_EF-hand,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1	p.E707G	ENST00000316073.3	37	c.2120	CCDS41397.1	1	149	0.06822344322344322	3	0.006097560975609756	40	0.11049723756906077	0	0.0	106	0.13984168865435356	T	11.43	1.636369	0.29068	0.025191	0.136935	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.23147	1.92	5.15	2.82	0.32997	.	.	.	.	.	T	0.10035	0.0246	M	0.61703	1.905	0.80722	P	0.0	B	0.32101	0.356	B	0.30855	0.121	T	0.13335	-1.0513	8	0.25751	T	0.34	0.1107	7.9769	0.30159	0.0:0.1718:0.0:0.8282	.	707	Q6XPR3	RPTN_HUMAN	G	707;362	ENSP00000317895:E707G	ENSP00000317895:E707G	E	-	2	0	RPTN	150394079	.	.	0.007000	0.13788	0.104000	0.19210	.	.	0.300000	0.22699	0.523000	0.50628	GAA	-	NULL		0.562	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	protein_coding	OTTHUMT00000333867.1	T	XM_371312		150394079	-1	no_errors	ENST00000316073	ensembl	human	known	54_36p	missense	SNP	0.011	C
FLG	2312	genome.wustl.edu	37	1	152283392	152283392	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152283392C>T	ENST00000368799.1	-	3	4005	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1324	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTGCAGAGTGC	0.522									Ichthyosis																																							0			1											269.0	255.0	259.0					1																	152283392		2203	4300	6503	150550016	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3970G>A	1.37:g.152283392C>T	ENSP00000357789:p.Asp1324Asn		150550016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.D1324N	ENST00000368799.1	37	c.3970	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	8.488	0.861465	0.17178	.	.	ENSG00000143631	ENST00000368799	T	0.04454	3.62	3.76	1.74	0.24563	.	.	.	.	.	T	0.01523	0.0049	L	0.59436	1.845	0.09310	N	1	P	0.43857	0.819	B	0.36719	0.231	T	0.45862	-0.9232	9	0.17832	T	0.49	.	6.9652	0.24619	0.0:0.7534:0.0:0.2466	.	1324	P20930	FILA_HUMAN	N	1324	ENSP00000357789:D1324N	ENSP00000357789:D1324N	D	-	1	0	FLG	150550016	0.019000	0.18553	0.005000	0.12908	0.009000	0.06853	1.931000	0.40134	0.668000	0.31126	0.456000	0.33151	GAC	-	NULL		0.522	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016		150550016	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	missense	SNP	0.000	T
LCE3A	353142	genome.wustl.edu	37	1	152595322	152595322	+	Silent	SNP	C	C	T			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:152595322C>T	ENST00000335674.1	-	1	257	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	86					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCAGCCCGCAGAACTGT	0.552																																																0			1											46.0	52.0	50.0					1																	152595322		2202	4298	6500	150861946	SO:0001819	synonymous_variant	353142				CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.258G>A	1.37:g.152595322C>T			150861946		Silent	SNP	PatternScan_PA2_HIS	p.A86	ENST00000335674.1	37	c.258	CCDS1017.1	1																																																																																			-	NULL		0.552	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3A	protein_coding	OTTHUMT00000034517.2	C	NM_178431		150861946	-1	no_errors	NM_178431	genbank	human	validated	54_36p	silent	SNP	0.001	T
GON4L	54856	genome.wustl.edu	37	1	155735839	155735839	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:155735839G>A	ENST00000368331.1	-	21	3473	c.3425C>T	c.(3424-3426)tCt>tTt	p.S1142F	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S1142F|GON4L_ENST00000437809.1_Missense_Mutation_p.S1142F|GON4L_ENST00000271883.5_Missense_Mutation_p.S1142F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGATAACAGATGCAGGGTG	0.527																																																0			1											165.0	155.0	159.0					1																	155735839		2203	4300	6503	154002463	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3425C>T	1.37:g.155735839G>A	ENSP00000357315:p.Ser1142Phe		154002463	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	superfamily_PAH2 domain,HMMPfam_PAH,superfamily_Homeodomain-like	p.S1142F	ENST00000368331.1	37	c.3425		1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220419	0.39201	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.13196	2.81;2.81;2.81;2.61	5.27	5.27	0.74061	.	0.093802	0.47455	D	0.000221	T	0.08980	0.0222	N	0.14661	0.345	0.31857	N	0.621442	P;P;P;P	0.48503	0.911;0.48;0.48;0.614	P;B;B;B	0.49953	0.627;0.225;0.085;0.176	T	0.02560	-1.1141	10	0.87932	D	0	.	18.6688	0.91502	0.0:0.0:1.0:0.0	.	1142;338;1142;1142	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	F	1142	ENSP00000396117:S1142F;ENSP00000357315:S1142F;ENSP00000271883:S1142F;ENSP00000354322:S1142F	ENSP00000271883:S1142F	S	-	2	0	GON4L	154002463	1.000000	0.71417	0.853000	0.33588	0.212000	0.24457	6.407000	0.73280	2.751000	0.94390	0.650000	0.86243	TCT	-	NULL		0.527	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	protein_coding		G	NM_032292		154002463	-1	no_errors	NM_001037533	genbank	human	validated	54_36p	missense	SNP	0.971	A
GABRA1	2554	genome.wustl.edu	37	5	161324363	161324363	+	Missense_Mutation	SNP	T	T	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr5:161324363T>A	ENST00000428797.2	+	11	1661	c.1306T>A	c.(1306-1308)Tta>Ata	p.L436I	GABRA1_ENST00000023897.6_Missense_Mutation_p.L436I|GABRA1_ENST00000437025.2_Missense_Mutation_p.L436I|GABRA1_ENST00000420560.1_Missense_Mutation_p.L436I|GABRA1_ENST00000393943.4_Missense_Mutation_p.L436I|GABRA1_ENST00000444819.1_Missense_Mutation_p.L436I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	436					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AATCTTTAACTTAGTCTACTG	0.428																																																0			5											130.0	134.0	133.0					5																	161324363		2203	4300	6503	161256941	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1306T>A	5.37:g.161324363T>A	ENSP00000393097:p.Leu436Ile		161256941	D3DQK6|Q8N629	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.L436I	ENST00000428797.2	37	c.1306	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003650	0.74932	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.32	4.14	0.48551	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.85371	0.5681	L	0.28192	0.835	0.52099	D	0.999947	D	0.58620	0.983	P	0.58077	0.832	T	0.82859	-0.0249	10	0.27082	T	0.32	.	11.7242	0.51700	0.0:0.0729:0.0:0.9271	.	436	P14867	GBRA1_HUMAN	I	436	ENSP00000023897:L436I;ENSP00000393097:L436I;ENSP00000377517:L436I;ENSP00000415441:L436I;ENSP00000408041:L436I;ENSP00000414232:L436I	ENSP00000023897:L436I	L	+	1	2	GABRA1	161256941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.070000	0.41491	2.134000	0.65973	0.460000	0.39030	TTA	-	superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb		0.428	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	protein_coding	OTTHUMT00000252702.2	T	NM_000806.5		161256941	+1	no_errors	NM_000806	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CCDC141	285025	genome.wustl.edu	37	2	179702064	179702064	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr2:179702064G>C	ENST00000420890.2	-	23	3999	c.3882C>G	c.(3880-3882)ttC>ttG	p.F1294L	CCDC141_ENST00000295723.5_Missense_Mutation_p.F719L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1294										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTCAGCTTTGAACTGGAGGT	0.473																																																0			2											100.0	99.0	99.0					2																	179702064		2203	4300	6503	179410309	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3882C>G	2.37:g.179702064G>C	ENSP00000395995:p.Phe1294Leu		179410309	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	HMMPfam_I-set	p.F719L	ENST00000420890.2	37	c.2157		2	.	.	.	.	.	.	.	.	.	.	G	1.503	-0.551650	0.03996	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.49432	0.78;1.31;1.32	5.43	2.62	0.31277	.	1.256550	0.05426	N	0.545145	T	0.34774	0.0909	L	0.27053	0.805	0.23016	N	0.998425	B;B	0.11235	0.002;0.004	B;B	0.11329	0.004;0.006	T	0.23511	-1.0186	10	0.25106	T	0.35	2.4429	6.3129	0.21174	0.2147:0.133:0.6523:0.0	.	719;719	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	L	1294;738;719	ENSP00000395995:F1294L;ENSP00000344627:F738L;ENSP00000295723:F719L	ENSP00000295723:F719L	F	-	3	2	CCDC141	179410309	1.000000	0.71417	0.161000	0.22692	0.021000	0.10359	1.783000	0.38664	0.240000	0.21263	0.655000	0.94253	TTC	-	NULL		0.473	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	protein_coding		G	NM_173648		179410309	-1	no_errors	NM_173648	genbank	human	provisional	54_36p	missense	SNP	0.297	C
CACNA1S	779	genome.wustl.edu	37	1	201081382	201081382	+	Missense_Mutation	SNP	C	C	A			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr1:201081382C>A	ENST00000362061.3	-	1	312	c.86G>T	c.(85-87)cGg>cTg	p.R29L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R29L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	29					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACAAGGCCCGGGGTGGCCT	0.607																																																0			1											107.0	95.0	99.0					1																	201081382		2203	4300	6503	199348005	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.86G>T	1.37:g.201081382C>A	ENSP00000355192:p.Arg29Leu		199348005	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.R29L	ENST00000362061.3	37	c.86	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.089756	0.94149	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.54279	0.58;0.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.93507	3.425	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	D	0.85825	0.1388	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	29	Q13698	CAC1S_HUMAN	L	29	ENSP00000355192:R29L;ENSP00000356307:R29L	ENSP00000355192:R29L	R	-	2	0	CACNA1S	199348005	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.318000	0.79029	2.536000	0.85505	0.561000	0.74099	CGG	-	NULL		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	C	NM_000069		199348005	-1	no_errors	NM_000069	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IKZF2	22807	genome.wustl.edu	37	2	213872134	213872134	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2059-01A-01D-1526-09	TCGA-13-2059-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eff7cda6-896f-405a-9be5-101646050f80	ed6f126f-b6f9-4517-82a4-b24e9feef799	g.chr2:213872134G>C	ENST00000434687.1	-	9	1840	c.1531C>G	c.(1531-1533)Cgt>Ggt	p.R511G	IKZF2_ENST00000451136.2_Missense_Mutation_p.R439G|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.R517G|IKZF2_ENST00000374327.4_Missense_Mutation_p.R366G|IKZF2_ENST00000421754.2_Missense_Mutation_p.R437G|IKZF2_ENST00000374319.4_Missense_Mutation_p.R485G|IKZF2_ENST00000457361.1_Missense_Mutation_p.R511G			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	511					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AACTCATAACGGTCCTGGCTT	0.483																																																0			2											119.0	109.0	113.0					2																	213872134		2203	4300	6503	213580379	SO:0001583	missense	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1531C>G	2.37:g.213872134G>C	ENSP00000412869:p.Arg511Gly		213580379	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2	p.R511G	ENST00000434687.1	37	c.1531	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191453	0.58017	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.61999	0.2392	M	0.62209	1.925	0.80722	D	1	D;P;D;D;P;D	0.89917	0.98;0.897;0.984;0.999;0.752;1.0	B;B;P;D;B;D	0.85130	0.35;0.35;0.715;0.983;0.206;0.997	T	0.63703	-0.6577	10	0.87932	D	0	-7.7515	14.5965	0.68410	0.0:0.0:0.8541:0.1459	.	439;437;366;485;511;289	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	G	511;517;511;485;439;437;366;215	ENSP00000410447:R511G;ENSP00000342876:R517G;ENSP00000412869:R511G;ENSP00000363439:R485G;ENSP00000395203:R439G;ENSP00000399574:R437G;ENSP00000363447:R366G	ENSP00000342876:R517G	R	-	1	0	IKZF2	213580379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.672000	0.90937	0.655000	0.94253	CGT	-	HMMSmart_SM00355		0.483	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	protein_coding	OTTHUMT00000256593.3	G	NM_016260		213580379	-1	no_errors	NM_016260	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
