#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0.0																																																0			NT_113933																																								59675	SO:0001628	intergenic_variant	0																															Unknown.37:g.0C>A			59675		Nonstop_Mutation	SNP	superfamily_Secretoglobin,HMMSmart_UTG	p.*70M		37	c.209		NT_113933																																																																																			-	superfamily_Secretoglobin,HMMSmart_UTG	0	0					ENSG00000215768			C			59675	-1	no_errors	ENST00000400874	ensembl	human	known	54_36p	nonstop	SNP	NULL	A
CSMD1	64478	genome.wustl.edu	37	8	3019743	3019743	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:3019743C>T	ENST00000520002.1	-	39	6340	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1928R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1929R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1929R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1928R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1929R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1928R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1929	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCGATCTCCGATTTTGATG	0.478																																																0			8											92.0	96.0	95.0					8																	3019743		1966	4155	6121	3007150	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5785G>A	8.37:g.3019743C>T	ENSP00000430733:p.Gly1929Arg		3007150	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.R1929Q	ENST00000520002.1	37	c.5786		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.945968|2.945968	0.53079|0.53079	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09|.	5.38|5.38	4.5|4.5	0.54988|0.54988	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83949|0.83949	0.5365|0.5365	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.991|.	D|D	0.87766|0.87766	0.2602|0.2602	10|5	0.87932|.	D|.	0|.	.|.	14.0122|14.0122	0.64505|0.64505	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	1929;1929;1929|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|Q	1929;1929;1790;1928;1928;1928|1408	ENSP00000383047:G1929R;ENSP00000430733:G1929R;ENSP00000441462:G1928R;ENSP00000446243:G1928R;ENSP00000441675:G1928R|.	ENSP00000320445:G1790R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3007150|3007150	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.026000|0.026000	0.11368|0.11368	7.062000|7.062000	0.76706|0.76706	1.399000|1.399000	0.46721|0.46721	-0.136000|-0.136000	0.14681|0.14681	GGA|CGG	-	NULL		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3007150	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225	genbank	human	validated	54_36p	missense	SNP	0.911	T
OR3A2	4995	genome.wustl.edu	37	17	3181659	3181659	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:3181659G>C	ENST00000408891.2	-	1	609	c.571C>G	c.(571-573)Cca>Gca	p.P191A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	191					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						AAGAGCTGTGGGAGGTCACAG	0.542																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											0			17											72.0	61.0	65.0					17																	3181659		2203	4297	6500	3128409	SO:0001583	missense	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.571C>G	17.37:g.3181659G>C	ENSP00000386180:p.Pro191Ala		3128409	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.P191A	ENST00000408891.2	37	c.571	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263770	0.39995	.	.	ENSG00000221882	ENST00000408891	T	0.00188	8.59	4.9	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.00384	0.0012	M	0.65677	2.01	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48658	-0.9016	10	0.46703	T	0.11	-19.2455	5.75	0.18142	0.0789:0.137:0.643:0.1412	.	191	P47893	OR3A2_HUMAN	A	191	ENSP00000386180:P191A	ENSP00000386180:P191A	P	-	1	0	OR3A2	3128409	0.056000	0.20664	0.934000	0.37439	0.792000	0.44763	0.558000	0.23469	0.764000	0.33197	-0.254000	0.11334	CCA	-	superfamily_SSF81321,HMMPfam_7tm_1		0.542	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	protein_coding	OTTHUMT00000438370.1	G			3128409	-1	no_errors	NM_002551	genbank	human	validated	54_36p	missense	SNP	0.008	C
ATP2A3	489	genome.wustl.edu	37	17	3851060	3851060	+	Silent	SNP	C	C	G	rs552276386		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:3851060C>G	ENST00000352011.3	-	8	774	c.720G>C	c.(718-720)gcG>gcC	p.A240A	ATP2A3_ENST00000397041.3_Silent_p.A240A|ATP2A3_ENST00000397043.3_Silent_p.A240A|ATP2A3_ENST00000309890.7_Silent_p.A240A|ATP2A3_ENST00000397035.3_Silent_p.A240A|ATP2A3_ENST00000359983.3_Silent_p.A240A|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	240					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCGACTGCCGCCATCTGGC	0.677																																					GBM(32;29 774 15719 37967)											0			17											27.0	29.0	28.0					17																	3851060		2195	4283	6478	3797809	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.720G>C	17.37:g.3851060C>G			3797809	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,HMMPfam_Cation_ATPase_C	p.A240	ENST00000352011.3	37	c.720	CCDS11041.1	17																																																																																			-	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase		0.677	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3797809	-1	no_errors	NM_174953	genbank	human	reviewed	54_36p	silent	SNP	0.954	G
FSD1	79187	genome.wustl.edu	37	19	4318405	4318405	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:4318405G>A	ENST00000221856.6	+	9	1009	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.V288M	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	288	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTCTCCGTGGAGTGGGA	0.627																																																0			19											69.0	61.0	63.0					19																	4318405		2203	4300	6503	4269405	SO:0001583	missense	79187			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.862G>A	19.37:g.4318405G>A	ENSP00000221856:p.Val288Met		4269405	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	HMMSmart_BBC,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_SPRY	p.V288M	ENST00000221856.6	37	c.862	CCDS12127.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.283237	0.95489	.	.	ENSG00000105255	ENST00000221856	T	0.34472	1.36	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.065197	0.64402	D	0.000011	T	0.56601	0.1996	M	0.64170	1.965	0.53005	D	0.999966	D	0.71674	0.998	D	0.64595	0.927	T	0.55952	-0.8059	10	0.54805	T	0.06	.	17.0428	0.86494	0.0:0.0:1.0:0.0	.	288	Q9BTV5	FSD1_HUMAN	M	288	ENSP00000221856:V288M	ENSP00000221856:V288M	V	+	1	0	FSD1	4269405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.675000	0.98638	2.634000	0.89283	0.655000	0.94253	GTG	-	NULL		0.627	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD1	protein_coding	OTTHUMT00000458091.1	G	NM_024333		4269405	+1	no_errors	NM_024333	genbank	human	provisional	54_36p	missense	SNP	1.000	A
RANBP6	26953	genome.wustl.edu	37	9	6013910	6013910	+	Silent	SNP	G	G	T	rs199515044		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:6013910G>T	ENST00000259569.5	-	1	1708	c.1698C>A	c.(1696-1698)atC>atA	p.I566I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	566					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAATGCACTCGATAGTTTTTC	0.378																																																0			9											134.0	129.0	130.0					9																	6013910		2203	4300	6503	6003910	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1698C>A	9.37:g.6013910G>T			6003910	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	superfamily_ARM-type_fold,HMMPfam_HEAT	p.I566	ENST00000259569.5	37	c.1698	CCDS6467.1	9																																																																																			-	superfamily_ARM-type_fold		0.378	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	protein_coding	OTTHUMT00000051650.1	G	NM_012416		6003910	-1	no_errors	NM_012416	genbank	human	validated	54_36p	silent	SNP	1.000	T
ICMT	23463	genome.wustl.edu	37	1	6293635	6293635	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:6293635C>A	ENST00000343813.5	-	3	381	c.353G>T	c.(352-354)aGt>aTt	p.S118I	LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	118					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|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;0.182)		CAAGGACAGACTTTTGGGATT	0.403																																																0			1											101.0	100.0	101.0					1																	6293635		2203	4300	6503	6216222	SO:0001583	missense	23463			AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.353G>T	1.37:g.6293635C>A	ENSP00000343552:p.Ser118Ile		6216222	Q6FHT0	Missense_Mutation	SNP	HMMPfam_ICMT	p.S118I	ENST00000343813.5	37	c.353	CCDS61.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203829	0.79127	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.68317	2.08	0.80722	D	1	P	0.39424	0.673	P	0.45195	0.473	T	0.71115	-0.4686	9	0.56958	D	0.05	.	18.9014	0.92444	0.0:1.0:0.0:0.0	.	118	O60725	ICMT_HUMAN	I	118;22	.	ENSP00000343552:S118I	S	-	2	0	ICMT	6216222	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.604000	0.82830	2.721000	0.93114	0.655000	0.94253	AGT	-	NULL		0.403	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICMT	protein_coding	OTTHUMT00000003681.1	C	NM_012405		6216222	-1	no_errors	NM_012405	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM66B	100128890	genome.wustl.edu	37	8	7191080	7191080	+	lincRNA	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:7191080C>T	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGCAGGGAACCAAGAGCCCTC	0.542																																																0			8																																								7178490			0					8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191080C>T			7178490		Missense_Mutation	SNP	PatternScan_UCH_2_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2	p.P391L	ENST00000606573.1	37	c.1172		8																																																																																			-	NULL		0.542	FAM66B-002	KNOWN	basic	lincRNA	ENSG00000206033	lincRNA	OTTHUMT00000470344.1	C	NR_027423		7178490	+1	no_errors	ENST00000382655	ensembl	human	known	54_36p	missense	SNP	0.001	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7813861	7813861	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:7813861C>T	ENST00000330494.7	+	38	5856	c.5706C>T	c.(5704-5706)agC>agT	p.S1902S	CHD3_ENST00000358181.4_Silent_p.S1868S|AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000380358.4_Silent_p.S1961S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1902	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGAGCGCAGCATCCTCAGCC	0.637																																																0			17											45.0	50.0	48.0					17																	7813861		2203	4300	6503	7754586	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5706C>T	17.37:g.7813861C>T			7754586	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.S1947	ENST00000330494.7	37	c.5841	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	c	15.73	2.918593	0.52546	.	.	ENSG00000170004	ENST00000439235	.	.	.	4.97	3.97	0.46021	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13764	-1.0497	5	0.02654	T	1	-6.7308	10.2861	0.43568	0.0:0.8481:0.0:0.1519	.	.	.	.	Y	246	.	ENSP00000395252:H246Y	H	+	1	0	CHD3	7754586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.509000	0.53386	2.586000	0.87340	0.552000	0.68991	CAT	-	HMMPfam_CHDCT2		0.637	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7754586	+1	no_errors	NM_001005271	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
NLRP10	338322	genome.wustl.edu	37	11	7981766	7981766	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:7981766G>T	ENST00000328600.2	-	2	1554	c.1393C>A	c.(1393-1395)Cgc>Agc	p.R465S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	465	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATGTGGCGGAAGCTGTAG	0.507																																																0			11											102.0	113.0	109.0					11																	7981766		2201	4296	6497	7938342	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1393C>A	11.37:g.7981766G>T	ENSP00000327763:p.Arg465Ser		7938342	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT	p.R465S	ENST00000328600.2	37	c.1393	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	G	4.880	0.163492	0.09287	.	.	ENSG00000182261	ENST00000328600	D	0.86956	-2.19	4.86	-1.62	0.08372	.	0.813795	0.10397	N	0.679692	T	0.70474	0.3228	N	0.11313	0.125	0.09310	N	0.999993	B	0.18863	0.031	B	0.20767	0.031	T	0.58853	-0.7563	10	0.54805	T	0.06	.	3.2929	0.06956	0.2826:0.0:0.3518:0.3656	.	465	Q86W26	NAL10_HUMAN	S	465	ENSP00000327763:R465S	ENSP00000327763:R465S	R	-	1	0	NLRP10	7938342	0.012000	0.17670	0.333000	0.25482	0.026000	0.11368	-0.054000	0.11826	-0.037000	0.13646	-0.182000	0.12963	CGC	-	NULL		0.507	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	protein_coding	OTTHUMT00000385705.1	G	NM_176821		7938342	-1	no_errors	NM_176821	genbank	human	reviewed	54_36p	missense	SNP	0.325	T
OR7D4	125958	genome.wustl.edu	37	19	9325424	9325424	+	Silent	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:9325424C>G	ENST00000308682.2	-	1	118	c.90G>C	c.(88-90)ctG>ctC	p.L30L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGACAGGAACAGCCCAAAGA	0.517																																																0			19											72.0	69.0	70.0					19																	9325424		2203	4300	6503	9186424	SO:0001819	synonymous_variant	125958				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.90G>C	19.37:g.9325424C>G			9186424	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L30	ENST00000308682.2	37	c.90	CCDS32901.1	19																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.517	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	C			9186424	-1	no_errors	NM_001005191	genbank	human	provisional	54_36p	silent	SNP	0.014	G
ANKRD12	23253	genome.wustl.edu	37	18	9255428	9255428	+	Silent	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:9255428A>G	ENST00000262126.4	+	9	2403	c.2163A>G	c.(2161-2163)gaA>gaG	p.E721E	ANKRD12_ENST00000400020.3_Silent_p.E698E|ANKRD12_ENST00000383440.2_Silent_p.E698E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAACATTAGAAAAAAAATCAA	0.284																																																0			18											28.0	30.0	29.0					18																	9255428		2143	4223	6366	9245428	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2163A>G	18.37:g.9255428A>G			9245428	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.E721	ENST00000262126.4	37	c.2163	CCDS11843.1	18																																																																																			-	superfamily_Ankyrin repeat		0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	A	NM_015208		9245428	+1	no_errors	NM_015208	genbank	human	validated	54_36p	silent	SNP	1.000	G
DRD5	1816	genome.wustl.edu	37	4	9783719	9783719	+	Silent	SNP	G	G	A	rs191825696	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:9783719G>A	ENST00000304374.2	+	1	462	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	22					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGCAGCTGGCGCAGGGGAACG	0.706													G|||	18	0.00359425	0.0106	0.0058	5008	,	,		15735	0.0		0.0	False		,,,				2504	0.0															0			4						G		44,4244		0,44,2100	6.0	7.0	7.0		66	-4.5	0.0	4		7	2,8428		0,2,4213	no	coding-synonymous	DRD5	NM_000798.4		0,46,6313	AA,AG,GG		0.0237,1.0261,0.3617		22/478	9783719	46,12672	2144	4215	6359	9392817	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.66G>A	4.37:g.9783719G>A			9392817	B2R9S3|Q8NEQ8	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A22	ENST00000304374.2	37	c.66	CCDS3405.1	4																																																																																			-	NULL		0.706	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	protein_coding	OTTHUMT00000250293.1	G			9392817	+1	no_errors	NM_000798	genbank	human	reviewed	54_36p	silent	SNP	0.136	A
MYH4	4622	genome.wustl.edu	37	17	10366910	10366910	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:10366910G>A	ENST00000255381.2	-	8	809	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	233	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.F233F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCATTGCCGAAGGCTTCCA	0.423																																																1	Substitution - coding silent(1)	prostate(1)	17											106.0	103.0	104.0					17																	10366910		2203	4300	6503	10307635	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.699C>T	17.37:g.10366910G>A			10307635		Silent	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1	p.F233	ENST00000255381.2	37	c.699	CCDS11154.1	17																																																																																			-	superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10307635	-1	no_errors	NM_017533	genbank	human	validated	54_36p	silent	SNP	1.000	A
CCT5	22948	genome.wustl.edu	37	5	10258338	10258338	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:10258338G>A	ENST00000280326.4	+	5	1066	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	CCT5_ENST00000503026.1_Missense_Mutation_p.G195S|CCT5_ENST00000515390.1_Missense_Mutation_p.G161S|CCT5_ENST00000515676.1_Missense_Mutation_p.G178S|CCT5_ENST00000506600.1_Missense_Mutation_p.G123S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	216					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGGCAAAGTGGGCGGCAGGCT	0.502																																																0			5											97.0	82.0	87.0					5																	10258338		2203	4300	6503	10311338	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.646G>A	5.37:g.10258338G>A	ENSP00000280326:p.Gly216Ser		10311338	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like	p.G216S	ENST00000280326.4	37	c.646	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.686803	0.96784	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.99740	4.74	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;1.0;1.0	D	0.99620	1.0983	10	0.87932	D	0	-29.2698	18.6782	0.91537	0.0:0.0:1.0:0.0	.	123;161;65;214;216;216	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	S	216;195;161;189;178;123	ENSP00000280326:G216S;ENSP00000423318:G195S;ENSP00000426923:G161S;ENSP00000427297:G178S;ENSP00000423052:G123S	ENSP00000280326:G216S	G	+	1	0	CCT5	10311338	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.265000	0.95647	2.648000	0.89879	0.650000	0.86243	GGC	-	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like		0.502	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	protein_coding	OTTHUMT00000253688.2	G			10311338	+1	no_errors	NM_012073	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TNFRSF8	943	genome.wustl.edu	37	1	12175722	12175722	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:12175722C>A	ENST00000263932.2	+	8	1104	c.882C>A	c.(880-882)acC>acA	p.T294T	TNFRSF8_ENST00000417814.2_Silent_p.T183T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	294					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CATCAGCCACCAACTCCCGTG	0.602																																																0			1											155.0	114.0	128.0					1																	12175722		2203	4300	6503	12098309	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.882C>A	1.37:g.12175722C>A			12098309	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1	p.T294	ENST00000263932.2	37	c.882	CCDS144.1	1																																																																																			-	superfamily_TNF receptor-like		0.602	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	protein_coding	OTTHUMT00000005130.1	C			12098309	+1	no_errors	NM_001243	genbank	human	reviewed	54_36p	silent	SNP	0.871	A
FBLN2	2199	genome.wustl.edu	37	3	13677995	13677995	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:13677995T>C	ENST00000295760.7	+	16	3193	c.3124T>C	c.(3124-3126)Tgc>Cgc	p.C1042R	FBLN2_ENST00000535798.1_Missense_Mutation_p.C1068R|FBLN2_ENST00000404922.3_Missense_Mutation_p.C1089R|FBLN2_ENST00000492059.1_Missense_Mutation_p.C1089R	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1042	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGCTGAGACCTGCCACAACAT	0.612																																																0			3											62.0	73.0	69.0					3																	13677995		2177	4281	6458	13652996	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3124T>C	3.37:g.13677995T>C	ENSP00000295760:p.Cys1042Arg		13652996	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	HMMSmart_SM00181,HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.C1088R	ENST00000295760.7	37	c.3262	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253424	0.80135	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.91;-5.91;-5.76;-5.91	4.91	4.91	0.64330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96895	0.9656	10	0.87932	D	0	.	14.5639	0.68162	0.0:0.0:0.0:1.0	.	1042;1089;1068	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	R	1068;1089;1042;1089	ENSP00000445705:C1068R;ENSP00000384169:C1089R;ENSP00000295760:C1042R;ENSP00000420042:C1089R	ENSP00000295760:C1042R	C	+	1	0	FBLN2	13652996	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.984000	0.88150	1.848000	0.53677	0.459000	0.35465	TGC	-	PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF_CA,HMMSmart_SM00181,superfamily_EGF/Laminin		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	protein_coding	OTTHUMT00000340083.3	T	NM_001004019		13652996	+1	no_errors	ENST00000295761	ensembl	human	known	54_36p	missense	SNP	1.000	C
NBEAP3	100418905	genome.wustl.edu	37	22	16123027	16123027	+	IGR	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:16123027T>G								LA16c-4G1.3 (59791 upstream) : AP000525.9 (24951 downstream)																							CGTTTCCAGGTGAACCACACA	0.552																																																0			22																																								14503027	SO:0001628	intergenic_variant	729057																															22.37:g.16123027T>G			14503027		RNA	SNP	-	NULL		37	NULL		22																																																																																			-	-	0	0.552					LOC729057			T			14503027	+1	no_errors	XR_042044	genbank	human	model	54_36p	rna	SNP	1.000	G
FAM105A	54491	genome.wustl.edu	37	5	14602388	14602388	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:14602388T>G	ENST00000274217.3	+	5	565	c.445T>G	c.(445-447)Ttc>Gtc	p.F149V		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	149	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ATTTCAGATATTCAGCCAGGG	0.398																																																0			5											127.0	119.0	122.0					5																	14602388		2203	4300	6503	14655388	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.445T>G	5.37:g.14602388T>G	ENSP00000274217:p.Phe149Val		14655388	Q53H50|Q9H037	Missense_Mutation	SNP	NULL	p.F149V	ENST00000274217.3	37	c.445	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160428	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16073	2.37	5.2	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	M	0.63428	1.95	0.34016	D	0.652075	P	0.45531	0.86	P	0.44561	0.453	T	0.40757	-0.9546	10	0.62326	D	0.03	-27.4555	11.1915	0.48687	0.0:0.0736:0.0:0.9264	.	149	Q9NUU6	F105A_HUMAN	V	149	ENSP00000274217:F149V	ENSP00000274217:F149V	F	+	1	0	FAM105A	14655388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.884000	0.39668	1.960000	0.56953	0.454000	0.30748	TTC	-	NULL		0.398	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	protein_coding	OTTHUMT00000253710.1	T	NM_019018		14655388	+1	no_errors	NM_019018	genbank	human	validated	54_36p	missense	SNP	1.000	G
EPS15L1	58513	genome.wustl.edu	37	19	16545258	16545258	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:16545258A>G	ENST00000248070.6	-	7	555	c.416T>C	c.(415-417)tTg>tCg	p.L139S	EPS15L1_ENST00000597937.1_Missense_Mutation_p.L139S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L139S|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L139S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L139S|EPS15L1_ENST00000602009.1_5'UTR	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	139	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTGATGGGCAAGAGGCTTTC	0.493																																																0			19											155.0	155.0	155.0					19																	16545258		2203	4300	6503	16406258	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.416T>C	19.37:g.16545258A>G	ENSP00000248070:p.Leu139Ser		16406258	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.L139S	ENST00000248070.6	37	c.416	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	A	1.781	-0.481877	0.04383	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.27402	1.67;1.67;1.67	4.87	4.87	0.63330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.546827	0.17224	N	0.182212	T	0.09069	0.0224	N	0.00525	-1.395	0.09310	N	1	B;B;B;B;B	0.21688	0.002;0.002;0.059;0.009;0.008	B;B;B;B;B	0.18263	0.01;0.006;0.017;0.021;0.012	T	0.13098	-1.0522	10	0.07325	T	0.83	.	13.6814	0.62487	1.0:0.0:0.0:0.0	.	139;139;139;139;139	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	S	139	ENSP00000393313:L139S;ENSP00000248070:L139S;ENSP00000440103:L139S	ENSP00000248070:L139S	L	-	2	0	EPS15L1	16406258	0.038000	0.19896	0.022000	0.16811	0.967000	0.64934	2.843000	0.48238	1.844000	0.53588	0.383000	0.25322	TTG	-	superfamily_SSF47473,HMMSmart_EH		0.493	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	protein_coding	OTTHUMT00000461040.1	A	NM_021235		16406258	-1	no_errors	NM_021235	genbank	human	provisional	54_36p	missense	SNP	0.540	G
MICU3	286097	genome.wustl.edu	37	8	16921602	16921602	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:16921602G>A	ENST00000318063.5	+	2	433	c.391G>A	c.(391-393)Ggc>Agc	p.G131S		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	131						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GGTTGCTATTGGCAGAACAGA	0.363																																																0			8											180.0	165.0	170.0					8																	16921602		2203	4300	6503	16965973	SO:0001583	missense	286097			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.391G>A	8.37:g.16921602G>A	ENSP00000321455:p.Gly131Ser		16965973	Q8IYZ3	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.G131S	ENST00000318063.5	37	c.391	CCDS5999.1	8	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443327	0.25987	.	.	ENSG00000155970	ENST00000318063	T	0.42900	0.96	5.23	3.18	0.36537	.	0.686095	0.14211	N	0.334070	T	0.15089	0.0364	N	0.01352	-0.895	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.20519	T	0.43	-1.6737	8.1824	0.31319	0.3634:0.0:0.6366:0.0	.	131	Q86XE3	EFHA2_HUMAN	S	131	ENSP00000321455:G131S	ENSP00000321455:G131S	G	+	1	0	EFHA2	16965973	0.743000	0.28239	0.461000	0.27105	0.905000	0.53344	1.328000	0.33758	0.503000	0.28060	0.591000	0.81541	GGC	-	NULL		0.363	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	protein_coding	OTTHUMT00000214031.1	G	NM_181723		16965973	+1	no_errors	NM_181723	genbank	human	provisional	54_36p	missense	SNP	0.089	A
KCNC1	3746	genome.wustl.edu	37	11	17793871	17793871	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:17793871G>A	ENST00000379472.3	+	2	1260	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	KCNC1_ENST00000265969.6_Silent_p.T410T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	410					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACCCGCAGACGTGGTCCGGCA	0.612																																																0			11											84.0	83.0	84.0					11																	17793871		2200	4293	6493	17750447	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1230G>A	11.37:g.17793871G>A			17750447	K4DI87	Silent	SNP	superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans	p.T410	ENST00000379472.3	37	c.1230	CCDS7827.1	11																																																																																			-	superfamily_SSF81324,HMMPfam_Ion_trans		0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	protein_coding	OTTHUMT00000389389.1	G	NM_004976		17750447	+1	no_errors	NM_004976	genbank	human	reviewed	54_36p	silent	SNP	0.996	A
SATB1	6304	genome.wustl.edu	37	3	18428081	18428081	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:18428081C>T	ENST00000338745.6	-	8	2963	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.R410Q|SATB1_ENST00000454909.2_Missense_Mutation_p.R410Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	410	Matrix attachment region (MAR) DNA- binding.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCTTCCTTTCGGAGGATTTC	0.507																																																0			3											74.0	75.0	75.0					3																	18428081		2203	4300	6503	18403085	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1229G>A	3.37:g.18428081C>T	ENSP00000341024:p.Arg410Gln		18403085	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox	p.R410Q	ENST00000338745.6	37	c.1229	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.641154	0.96693	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.63417	-0.04;-0.04;-0.02	6.05	6.05	0.98169	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83805	0.0238	10	0.72032	D	0.01	-18.0943	20.6013	0.99457	0.0:1.0:0.0:0.0	.	410;410	Q01826-2;Q01826	.;SATB1_HUMAN	Q	410	ENSP00000341024:R410Q;ENSP00000399708:R410Q;ENSP00000399518:R410Q	ENSP00000341024:R410Q	R	-	2	0	SATB1	18403085	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.757000	0.85209	2.878000	0.98634	0.650000	0.86243	CGA	-	HMMPfam_CUT		0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	C	NM_001131010		18403085	-1	no_errors	NM_002971	genbank	human	validated	54_36p	missense	SNP	1.000	T
MAPK7	5598	genome.wustl.edu	37	17	19286501	19286501	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:19286501C>A	ENST00000308406.5	+	7	2794	c.2408C>A	c.(2407-2409)tCc>tAc	p.S803Y	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.S664Y|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.S803Y|MAPK7_ENST00000395604.3_Missense_Mutation_p.S803Y	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	803	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGATGGACTCCCCAATGCTG	0.612																																																0			17											75.0	68.0	70.0					17																	19286501		2203	4300	6503	19227094	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2408C>A	17.37:g.19286501C>A	ENSP00000311005:p.Ser803Tyr		19227094	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST	p.S803Y	ENST00000308406.5	37	c.2408	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725337	0.89298	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;D;T;T	0.81499	-1.28;-1.5;-1.28;-1.28	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	L	0.55481	1.735	0.47659	D	0.999481	D	0.64830	0.994	P	0.57371	0.819	D	0.86906	0.2057	10	0.87932	D	0	-18.8646	15.6104	0.76713	0.0:1.0:0.0:0.0	.	803	Q13164	MK07_HUMAN	Y	803;664;803;803	ENSP00000311005:S803Y;ENSP00000299612:S664Y;ENSP00000378968:S803Y;ENSP00000378966:S803Y	ENSP00000299612:S664Y	S	+	2	0	MAPK7	19227094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.922000	0.75811	2.269000	0.75478	0.491000	0.48974	TCC	-	NULL		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19227094	+1	no_errors	NM_002749	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RIN2	54453	genome.wustl.edu	37	20	19981350	19981350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:19981350C>T	ENST00000255006.6	+	12	2754	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	RIN2_ENST00000440354.2_Nonsense_Mutation_p.Q387*|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	820	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGATGTGTGTCAGATCTGCGC	0.532																																																0			20											129.0	131.0	130.0					20																	19981350		2061	4210	6271	19929350	SO:0001587	stop_gained	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2605C>T	20.37:g.19981350C>T	ENSP00000255006:p.Gln869*		19929350	Q00425|Q5TFT8|Q9BQL3|Q9H071	Nonsense_Mutation	SNP	superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314	p.Q820*	ENST00000255006.6	37	c.2458	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	39	7.601418	0.98384	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	.	.	.	5.69	5.69	0.88448	.	0.419985	0.27473	N	0.019204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.3662	19.3957	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	869;387	.	.	Q	+	1	0	RIN2	19929350	0.997000	0.39634	1.000000	0.80357	0.951000	0.60555	2.438000	0.44837	2.687000	0.91594	0.462000	0.41574	CAG	-	HMMPfam_RA,HMMSmart_SM00314		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	C			19929350	+1	no_errors	NM_018993	genbank	human	reviewed	54_36p	nonsense	SNP	0.951	T
ACSM5P1	100421779	genome.wustl.edu	37	16	20607128	20607128	+	IGR	SNP	A	A	C	rs564484559	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr16:20607128A>C								RP11-143N13.2 (9122 upstream) : ACSM1 (27430 downstream)																							AGATGGTTGGAACACAGCAGA	0.473																																																0			16																																								20514629	SO:0001628	intergenic_variant	646805																															16.37:g.20607128A>C			20514629		Silent	SNP	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like	p.V82		37	c.246		16																																																																																			-	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like	0	0.473					LOC646805			A			20514629	-1	no_errors	XM_001726979	genbank	human	model	54_36p	silent	SNP	0.931	C
ZNF521	25925	genome.wustl.edu	37	18	22805504	22805504	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:22805504C>G	ENST00000361524.3	-	4	2526	c.2378G>C	c.(2377-2379)gGc>gCc	p.G793A	ZNF521_ENST00000538137.2_Missense_Mutation_p.G793A|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.G573A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	793					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCTCGGTGCCAAAGGACTC	0.468			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											152.0	134.0	140.0					18																	22805504		2203	4300	6503	21059502	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2378G>C	18.37:g.22805504C>G	ENSP00000354794:p.Gly793Ala		21059502	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G793A	ENST00000361524.3	37	c.2378	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982877	0.34942	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.39592	1.07;1.07	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.04994	-0.135	0.49213	D	0.999766	B	0.27971	0.196	B	0.27796	0.083	T	0.11108	-1.0601	10	0.15952	T	0.53	-31.6694	20.3539	0.98825	0.0:1.0:0.0:0.0	.	793	Q96K83	ZN521_HUMAN	A	793;827;793	ENSP00000354794:G793A;ENSP00000382352:G793A	ENSP00000354794:G793A	G	-	2	0	ZNF521	21059502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GGC	-	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	C	NM_015461		21059502	-1	no_errors	NM_015461	genbank	human	validated	54_36p	missense	SNP	1.000	G
ZNF521	25925	genome.wustl.edu	37	18	22807557	22807557	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:22807557C>G	ENST00000361524.3	-	4	473	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E109Q|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTTCTTCCTCTCCAAAATCG	0.517			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											79.0	74.0	76.0					18																	22807557		2203	4300	6503	21061555	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.325G>C	18.37:g.22807557C>G	ENSP00000354794:p.Glu109Gln		21061555	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.E109Q	ENST00000361524.3	37	c.325	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554016	0.45487	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09817	2.94;2.95	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	N	0.24115	0.695	0.45883	D	0.998733	D	0.89917	1.0	D	0.85130	0.997	T	0.07385	-1.0775	10	0.14656	T	0.56	-37.2702	20.6593	0.99626	0.0:1.0:0.0:0.0	.	109	Q96K83	ZN521_HUMAN	Q	109;143;109	ENSP00000354794:E109Q;ENSP00000382352:E109Q	ENSP00000354794:E109Q	E	-	1	0	ZNF521	21061555	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAG	-	NULL		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	C	NM_015461		21061555	-1	no_errors	NM_015461	genbank	human	validated	54_36p	missense	SNP	1.000	G
RAP1GAP	5909	genome.wustl.edu	37	1	21944445	21944445	+	Silent	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:21944445T>G	ENST00000374765.4	-	6	287	c.87A>C	c.(85-87)ccA>ccC	p.P29P	RAP1GAP_ENST00000374763.2_Silent_p.P29P|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Silent_p.P60P|RAP1GAP_ENST00000290101.4_Silent_p.P93P|RAP1GAP_ENST00000542643.2_Silent_p.P29P	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	29					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGCTCGGGTATGGAATGTAGT	0.592																																																0			1											176.0	153.0	161.0					1																	21944445		2203	4300	6503	21817032	SO:0001819	synonymous_variant	5909			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.87A>C	1.37:g.21944445T>G			21817032	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	HMMPfam_GoLoco,HMMSmart_SM00390,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP	p.P29	ENST00000374765.4	37	c.87	CCDS218.1	1																																																																																			-	NULL		0.592	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	protein_coding	OTTHUMT00000019759.2	T	NM_002885		21817032	-1	no_errors	NM_002885	genbank	human	validated	54_36p	silent	SNP	0.960	G
RP11-285M22.1	0	genome.wustl.edu	37	17	22192780	22192780	+	lincRNA	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:22192780G>T	ENST00000577879.1	+	0	238				RP11-285M22.3_ENST00000582507.1_lincRNA																							TCCATTTCTGGGAAGAGCTTC	0.428																																																0			17																																								22116907			0																															17.37:g.22192780G>T			22116907		RNA	SNP	-	NULL	ENST00000577879.1	37	NULL		17																																																																																			-	-		0.428	RP11-285M22.1-001	KNOWN	basic	lincRNA	LOC100128717	lincRNA	OTTHUMT00000444747.1	G			22116907	-1	pseudogene	XR_037607	genbank	human	model	54_36p	rna	SNP	1.000	T
TCEB3	6924	genome.wustl.edu	37	1	24077343	24077343	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:24077343A>G	ENST00000418390.2	+	4	597	c.326A>G	c.(325-327)gAg>gGg	p.E109G	TCEB3_ENST00000609199.1_Missense_Mutation_p.E83G|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	109					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAAATGCTGAGCCTGATGAA	0.463																																																0			1											27.0	29.0	28.0					1																	24077343		2202	4300	6502	23949930	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.326A>G	1.37:g.24077343A>G	ENSP00000395574:p.Glu109Gly		23949930	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMPfam_TFIIS,HMMSmart_SM00509,HMMPfam_Elongin_A	p.E83G	ENST00000418390.2	37	c.248	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235558	0.39498	.	.	ENSG00000011007	ENST00000418390	T	0.09255	3.0	5.43	5.43	0.79202	Transcription factor IIS, N-terminal (2);	0.408346	0.23492	N	0.047589	T	0.11750	0.0286	L	0.43152	1.355	0.39049	D	0.960289	B	0.17852	0.024	B	0.13407	0.009	T	0.10042	-1.0647	10	0.26408	T	0.33	-19.0789	15.6414	0.77006	1.0:0.0:0.0:0.0	.	109	Q14241	ELOA1_HUMAN	G	109	ENSP00000395574:E109G	ENSP00000395574:E109G	E	+	2	0	TCEB3	23949930	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	6.178000	0.71968	2.279000	0.76181	0.533000	0.62120	GAG	-	HMMPfam_TFIIS		0.463	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	protein_coding	OTTHUMT00000008230.2	A	NM_003198		23949930	+1	no_errors	NM_003198	genbank	human	reviewed	54_36p	missense	SNP	0.944	G
DSG3	1830	genome.wustl.edu	37	18	29027852	29027852	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:29027852C>A	ENST00000257189.4	+	1	95	c.12C>A	c.(10-12)ctC>ctA	p.L4L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	4					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATGGGGCTCTTCCCCAGAA	0.478																																																0			18											92.0	80.0	84.0					18																	29027852		2203	4300	6503	27281850	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.12C>A	18.37:g.29027852C>A			27281850	A8K2V2	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin,PatternScan_CADHERIN_1	p.L4	ENST00000257189.4	37	c.12	CCDS11898.1	18																																																																																			-	NULL		0.478	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	protein_coding	OTTHUMT00000254949.1	C	NM_001944		27281850	+1	no_errors	NM_001944	genbank	human	reviewed	54_36p	silent	SNP	0.021	A
PRKD1	5587	genome.wustl.edu	37	14	30047502	30047502	+	Silent	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:30047502G>T	ENST00000331968.5	-	17	2728	c.2499C>A	c.(2497-2499)acC>acA	p.T833T	PRKD1_ENST00000415220.2_Silent_p.T841T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTGGCTCAAGGTCTTATCCA	0.323																																																0			14											86.0	86.0	86.0					14																	30047502		2203	4300	6503	29117253	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2499C>A	14.37:g.30047502G>T			29117253	A6NL64|B2RAF6	Silent	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.T833	ENST00000331968.5	37	c.2499	CCDS9637.1	14																																																																																			-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.323	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742		29117253	-1	no_errors	NM_002742	genbank	human	validated	54_36p	silent	SNP	0.986	T
OR5V1	81696	genome.wustl.edu	37	6	29323251	29323251	+	Missense_Mutation	SNP	C	C	A	rs149477718	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:29323251C>A	ENST00000377154.1	-	4	1021	c.722G>T	c.(721-723)tGt>tTt	p.C241F	OR5V1_ENST00000543825.1_Missense_Mutation_p.C241F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGGGAGGCACATGTAGAGAA	0.443																																					Ovarian(32;43 883 21137 32120 42650)											0			6											91.0	82.0	85.0					6																	29323251		2203	4300	6503	29431230	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.722G>T	6.37:g.29323251C>A	ENSP00000366359:p.Cys241Phe		29431230	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.C241F	ENST00000377154.1	37	c.722	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186163	0.38609	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00368	7.75;7.75	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01254	0.0041	H	0.97732	4.065	0.45930	D	0.998768	D	0.89917	1.0	D	0.91635	0.999	T	0.27839	-1.0062	9	0.87932	D	0	-44.5685	18.0803	0.89440	0.0:1.0:0.0:0.0	.	241	Q9UGF6	OR5V1_HUMAN	F	241	ENSP00000366359:C241F;ENSP00000443309:C241F	ENSP00000366356:C241F	C	-	2	0	OR5V1	29431230	1.000000	0.71417	0.958000	0.39756	0.119000	0.20118	4.993000	0.63895	2.601000	0.87937	0.543000	0.68304	TGT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.443	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	protein_coding	OTTHUMT00000076398.3	C			29431230	-1	no_errors	NM_030876	genbank	human	validated	54_36p	missense	SNP	0.998	A
OR5V1	81696	genome.wustl.edu	37	6	29385064	29385064	+	Intron	SNP	A	A	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:29385064A>G	ENST00000377154.1	-	3	218				OR12D1_ENST00000514827.1_RNA			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATGCTGAATACAACCTCA	0.383																																					Ovarian(32;43 883 21137 32120 42650)											0			6																																								29493043	SO:0001627	intron_variant	442194				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.81+5319T>C	6.37:g.29385064A>G			29493043	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.N3S	ENST00000377154.1	37	c.8	CCDS4657.1	6																																																																																			-	superfamily_SSF81321		0.383	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	protein_coding	OTTHUMT00000076398.3	A			29493043	+1	no_errors	ENST00000383554	ensembl	human	known	54_36p	missense	SNP	0.315	G
DTNA	1837	genome.wustl.edu	37	18	32438362	32438362	+	Splice_Site	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr18:32438362G>T	ENST00000399113.3	+	15	1565	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	DTNA_ENST00000601125.1_Splice_Site_p.R144I|DTNA_ENST00000598142.1_Splice_Site_p.R465I|DTNA_ENST00000591182.1_Splice_Site_p.R170I|DTNA_ENST00000556414.3_Splice_Site_p.R174I|DTNA_ENST00000269191.6_Splice_Site_p.R522I|DTNA_ENST00000348997.5_Splice_Site_p.R519I|DTNA_ENST00000444659.1_Splice_Site_p.R522I|DTNA_ENST00000598774.1_Splice_Site_p.R465I|DTNA_ENST00000599844.1_Splice_Site_p.S144I|DTNA_ENST00000399097.3_Splice_Site_p.R170I|DTNA_ENST00000597599.1_Splice_Site_p.R462I|DTNA_ENST00000269190.7_Splice_Site_p.R523I|DTNA_ENST00000399121.5_Splice_Site_p.R462I|DTNA_ENST00000598334.1_Splice_Site_p.R462I|DTNA_ENST00000595022.1_Splice_Site_p.R462I|DTNA_ENST00000597674.1_Splice_Site_p.R144I|DTNA_ENST00000283365.9_Splice_Site_p.R465I|DTNA_ENST00000596745.1_Splice_Site_p.R272I|DTNA_ENST00000269192.7_Splice_Site_p.R231I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	522					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGCTCCTCAGGTAGGAGAGA	0.512																																																0			18											49.0	47.0	48.0					18																	32438362		2203	4300	6503	30692360	SO:0001630	splice_region_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1565+1G>T	18.37:g.32438362G>T			30692360	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1	p.R522I	ENST00000399113.3	37	c.1565	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.467098	0.96257	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.55930	0.99;0.49;0.81;0.5;0.78;0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.996;0.998;0.999;0.997;0.998;0.999;0.999;0.999;0.997;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.988;0.981;0.943;0.997;0.999;0.969;0.983;0.995;0.999;0.983;0.963;0.983;0.991	T	0.76753	-0.2843	10	0.87932	D	0	-10.5603	19.4422	0.94825	0.0:0.0:1.0:0.0	.	174;231;212;272;522;522;462;465;170;519;462;473;465;465	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	I	465;465;462;523;170;519;522;522;522;522;231;170;174	ENSP00000283365:R465I;ENSP00000269190:R523I;ENSP00000336682:R519I;ENSP00000405819:R522I;ENSP00000269191:R522I;ENSP00000382064:R522I	ENSP00000269190:R523I	R	+	2	0	DTNA	30692360	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.612000	0.88384	0.650000	0.86243	AGA	-	NULL		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	protein_coding	OTTHUMT00000255422.2	G	NM_001390	Missense_Mutation	30692360	+1	no_errors	NM_001390	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31778258	31778258	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:31778258T>C	ENST00000389961.3	-	28	4553	c.4554A>G	c.(4552-4554)gaA>gaG	p.E1518E	HEATR5A_ENST00000439348.1_Silent_p.E1518E|HEATR5A_ENST00000439727.1_Silent_p.E1231E|HEATR5A_ENST00000543095.2_Silent_p.E1524E|AL136418.1_ENST00000582500.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1518										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGATGCTCCTTCATCTGGGT	0.458																																																0			14											207.0	192.0	196.0					14																	31778258		1919	4132	6051	30848009	SO:0001819	synonymous_variant	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4554A>G	14.37:g.31778258T>C			30848009	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	superfamily_ARM repeat,HMMPfam_HEAT	p.E1231	ENST00000389961.3	37	c.3693		14	.	.	.	.	.	.	.	.	.	.	T	9.456	1.091948	0.20471	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.52	0.287	0.15714	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	.	5.2467	0.15500	0.0:0.3139:0.1449:0.5412	.	.	.	.	R	1152	.	.	K	-	2	0	HEATR5A	30848009	0.997000	0.39634	0.983000	0.44433	0.996000	0.88848	0.355000	0.20163	0.096000	0.17463	0.533000	0.62120	AAG	-	NULL		0.458	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	protein_coding		T	NM_015473		30848009	-1	no_errors	NM_015473	genbank	human	validated	54_36p	silent	SNP	0.974	C
FAM60A	58516	genome.wustl.edu	37	12	31446781	31446781	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:31446781T>A	ENST00000337682.4	-	4	681	c.313A>T	c.(313-315)Agc>Tgc	p.S105C	FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000395766.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S105C	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	105					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATCTGGTTGCTTTTTATCCTG	0.363																																																0			12											99.0	91.0	94.0					12																	31446781		2203	4298	6501	31338048	SO:0001583	missense	58516			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.313A>T	12.37:g.31446781T>A	ENSP00000337477:p.Ser105Cys		31338048	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	NULL	p.S105C	ENST00000337682.4	37	c.313	CCDS8723.1	12	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685692	0.68157	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.83	3.69	0.42338	.	0.225469	0.53938	D	0.000059	T	0.46171	0.1379	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.99;0.997	P;P	0.57324	0.634;0.818	T	0.41910	-0.9482	10	0.66056	D	0.02	-3.3028	10.3669	0.44030	0.0:0.078:0.0:0.922	.	105;146	Q9NP50;B7Z287	FA60A_HUMAN;.	C	105;105;146;105;105	ENSP00000337477:S105C;ENSP00000393279:S105C;ENSP00000443881:S105C;ENSP00000437363:S105C	ENSP00000337477:S105C	S	-	1	0	FAM60A	31338048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.386000	0.44380	0.806000	0.34183	0.459000	0.35465	AGC	-	NULL		0.363	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM60A	protein_coding	OTTHUMT00000400347.1	T	NM_021238		31338048	-1	no_errors	NM_021238	genbank	human	validated	54_36p	missense	SNP	1.000	A
GGT7	2686	genome.wustl.edu	37	20	33440278	33440278	+	Silent	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:33440278G>T	ENST00000336431.5	-	11	1427	c.1383C>A	c.(1381-1383)ctC>ctA	p.L461L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	461					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGACAGGCAGGAGTGGGGCAG	0.582																																																0			20											52.0	57.0	55.0					20																	33440278		2203	4300	6503	32903939	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1383C>A	20.37:g.33440278G>T			32903939	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	HMMPfam_G_glu_transpept	p.L461	ENST00000336431.5	37	c.1383	CCDS13242.2	20																																																																																			-	HMMPfam_G_glu_transpept		0.582	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	protein_coding	OTTHUMT00000078816.2	G	NM_178026		32903939	-1	no_errors	NM_178026	genbank	human	reviewed	54_36p	silent	SNP	0.901	T
YARS	8565	genome.wustl.edu	37	1	33251997	33251997	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:33251997G>T	ENST00000373477.4	-	8	1780	c.872C>A	c.(871-873)gCt>gAt	p.A291D		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	291					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTCCACGTAAGCTGTGTAGGT	0.393																																																0			1											198.0	157.0	171.0					1																	33251997		2203	4300	6503	33024584	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.872C>A	1.37:g.33251997G>T	ENSP00000362576:p.Ala291Asp		33024584	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1b,superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_bind	p.A291D	ENST00000373477.4	37	c.872	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	G	6.566	0.472798	0.12461	.	.	ENSG00000134684	ENST00000373477	T	0.71103	-0.54	4.92	-0.258	0.12975	.	0.534990	0.21723	N	0.070083	T	0.26521	0.0648	N	0.00436	-1.5	0.30079	N	0.809352	B	0.06786	0.001	B	0.04013	0.001	T	0.31558	-0.9939	10	0.11485	T	0.65	-0.446	3.9763	0.09476	0.2925:0.0:0.3554:0.3521	.	291	P54577	SYYC_HUMAN	D	291	ENSP00000362576:A291D	ENSP00000362576:A291D	A	-	2	0	YARS	33024584	0.000000	0.05858	0.928000	0.36995	0.846000	0.48090	-0.155000	0.10115	0.047000	0.15862	-0.444000	0.05651	GCT	-	superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1b		0.393	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	protein_coding	OTTHUMT00000011225.1	G	NM_003680		33024584	-1	no_errors	NM_003680	genbank	human	reviewed	54_36p	missense	SNP	0.839	T
PARD3	56288	genome.wustl.edu	37	10	34671760	34671760	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:34671760T>C	ENST00000374789.3	-	9	1432	c.1107A>G	c.(1105-1107)ctA>ctG	p.L369L	PARD3_ENST00000374788.3_Silent_p.L369L|PARD3_ENST00000374790.3_Silent_p.L325L|PARD3_ENST00000350537.4_Silent_p.L369L|PARD3_ENST00000545693.1_Silent_p.L369L|PARD3_ENST00000346874.4_Silent_p.L369L|PARD3_ENST00000374794.3_Silent_p.L325L|PARD3_ENST00000340077.5_Silent_p.L369L|PARD3_ENST00000374776.1_Silent_p.L369L|PARD3_ENST00000545260.1_Silent_p.L325L|PARD3_ENST00000544292.1_Silent_p.L99L|PARD3_ENST00000374773.1_Silent_p.L369L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	369					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACTTTGGGATAGTTGTTCAT	0.458																																																0			10											167.0	161.0	163.0					10																	34671760		2203	4300	6503	34711766	SO:0001819	synonymous_variant	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1107A>G	10.37:g.34671760T>C			34711766	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ	p.L369	ENST00000374789.3	37	c.1107	CCDS7178.1	10																																																																																			-	superfamily_PDZ domain-like		0.458	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	protein_coding	OTTHUMT00000047527.1	T	NM_019619		34711766	-1	no_errors	NM_019619	genbank	human	provisional	54_36p	silent	SNP	0.444	C
URI1	8725	genome.wustl.edu	37	19	30503229	30503229	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:30503229C>G	ENST00000542441.2	+	10	1513	c.1216C>G	c.(1216-1218)Cgc>Ggc	p.R406G	URI1_ENST00000360605.4_Missense_Mutation_p.R388G|URI1_ENST00000392271.1_Missense_Mutation_p.R330G|URI1_ENST00000312051.6_Missense_Mutation_p.R366G			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	406					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ATATGTCCCTCGCAAATCCAT	0.403																																																0			19											169.0	156.0	161.0					19																	30503229		2203	4300	6503	35195069	SO:0001583	missense	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1216C>G	19.37:g.30503229C>G	ENSP00000442436:p.Arg406Gly		35195069	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Prefoldin	p.R406G	ENST00000542441.2	37	c.1216	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377508	0.42105	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.60424	0.19	5.54	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.63843	1.955	0.58432	D	0.999994	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.69307	0.963;0.919;0.919	T	0.74928	-0.3497	10	0.66056	D	0.02	-12.3638	14.2813	0.66213	0.0:0.9285:0.0:0.0715	.	366;406;403	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	G	404;330;406;366	ENSP00000442436:R406G	ENSP00000312530:R366G	R	+	1	0	C19orf2	35195069	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	4.351000	0.59398	1.348000	0.45733	-0.225000	0.12378	CGC	-	NULL		0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf2	protein_coding	OTTHUMT00000439756.1	C	NM_134447		35195069	+1	no_errors	NM_003796	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TRIOBP	11078	genome.wustl.edu	37	22	38120109	38120109	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:38120109T>C	ENST00000406386.3	+	7	1801	c.1546T>C	c.(1546-1548)Tcc>Ccc	p.S516P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	516					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCAGAACCTCCTCTCCCAA	0.602																																																0			22											20.0	34.0	30.0					22																	38120109		1757	3951	5708	36450055	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1546T>C	22.37:g.38120109T>C	ENSP00000384312:p.Ser516Pro		36450055	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.S516P	ENST00000406386.3	37	c.1546	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	-	13.37	2.216578	0.39201	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23950	1.88	2.68	1.57	0.23409	.	.	.	.	.	T	0.16727	0.0402	L	0.44542	1.39	0.80722	D	1	B	0.18310	0.027	B	0.12156	0.007	T	0.10359	-1.0633	9	0.33940	T	0.23	.	2.2097	0.03945	0.2523:0.1452:0.0:0.6024	.	516	Q9H2D6	TARA_HUMAN	P	516	ENSP00000384312:S516P	ENSP00000384312:S516P	S	+	1	0	TRIOBP	36450055	0.000000	0.05858	0.930000	0.37139	0.261000	0.26267	0.197000	0.17197	0.259000	0.21709	0.240000	0.17902	TCC	-	NULL		0.602	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	T			36450055	+1	no_errors	NM_001039141	genbank	human	reviewed	54_36p	missense	SNP	0.006	C
DNALI1	7802	genome.wustl.edu	37	1	38027204	38027204	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:38027204G>A	ENST00000296218.7	+	4	520	c.510G>A	c.(508-510)ctG>ctA	p.L170L	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Silent_p.L22L	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	148					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAGGGGGCTGCTGCTGCTGC	0.612											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											93.0	80.0	84.0					1																	38027204		2203	4300	6503	37799791	SO:0001819	synonymous_variant	7802			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.510G>A	1.37:g.38027204G>A		875	37799791	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Silent	SNP	HMMPfam_Ax_dynein_light	p.L170	ENST00000296218.7	37	c.510	CCDS420.1	1																																																																																			-	HMMPfam_Ax_dynein_light		0.612	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNALI1	protein_coding	OTTHUMT00000012159.1	G	NM_003462		37799791	+1	no_errors	NM_003462	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
RPLP0P6	220717	genome.wustl.edu	37	2	38709000	38709000	+	lincRNA	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:38709000G>T	ENST00000417039.1	-	0	696																											GTGATGCCCAGGGAAGACAGG	0.493																																																0			2																																								38562504			220717																															2.37:g.38709000G>T			38562504		RNA	SNP	-	NULL	ENST00000417039.1	37	NULL		2																																																																																			-	-		0.493	AC016995.3-001	KNOWN	basic	lincRNA	RPLP0-like	lincRNA	OTTHUMT00000331173.1	G			38562504	+1	pseudogene	XR_017813	genbank	human	model	54_36p	rna	SNP	1.000	T
THUMPD2	80745	genome.wustl.edu	37	2	39993224	39993224	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:39993224T>C	ENST00000505747.1	-	5	803	c.776A>G	c.(775-777)tAc>tGc	p.Y259C	THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000403537.3_5'Flank|THUMPD2_ENST00000260619.6_Missense_Mutation_p.Y229C	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	259	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CACCACAGAGTAAATGTCATT	0.328																																																0			2											106.0	108.0	107.0					2																	39993224		2203	4300	6503	39846728	SO:0001583	missense	80745			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.776A>G	2.37:g.39993224T>C	ENSP00000423933:p.Tyr259Cys		39846728	A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	HMMPfam_THUMP,HMMPfam_UPF0020,superfamily_SSF53335	p.Y229C	ENST00000505747.1	37	c.686	CCDS1805.2	2	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592163	0.66219	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.39	5.39	0.77823	THUMP (2);	0.120557	0.64402	D	0.000020	T	0.76147	0.3947	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	T	0.76892	-0.2791	8	.	.	.	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	150;259	B4DP37;Q9BTF0	.;THUM2_HUMAN	C	259;229	.	.	Y	-	2	0	THUMPD2	39846728	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	5.169000	0.64984	2.168000	0.68352	0.455000	0.32223	TAC	-	HMMPfam_THUMP		0.328	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD2	protein_coding	OTTHUMT00000219991.2	T	NM_025264		39846728	-1	no_errors	NM_025264	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CATSPERG	57828	genome.wustl.edu	37	19	38860694	38860694	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:38860694G>T	ENST00000409235.3	+	27	3218	c.3103G>T	c.(3103-3105)Gtg>Ttg	p.V1035L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V995L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1035					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAAGGTGTTGGTGAGCAATAG	0.562																																																0			19											165.0	153.0	157.0					19																	38860694		2203	4300	6503	43552534	SO:0001583	missense	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3103G>T	19.37:g.38860694G>T	ENSP00000386962:p.Val1035Leu		43552534	A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.V675L	ENST00000409235.3	37	c.2023	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754631	0.69648	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.27890	1.65;1.64	5.9	5.9	0.94986	.	0.000000	0.44902	D	0.000414	T	0.47002	0.1422	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.35992	-0.9766	10	0.66056	D	0.02	-32.3722	15.78	0.78252	0.0:0.0:1.0:0.0	.	1035;995	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	995;1035;1035	ENSP00000387057:V995L;ENSP00000386962:V1035L	ENSP00000386962:V1035L	V	+	1	0	CATSPERG	43552534	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.619000	0.67729	2.804000	0.96469	0.549000	0.68633	GTG	-	NULL		0.562	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf15	protein_coding	OTTHUMT00000330204.1	G	NM_021185		43552534	+1	no_errors	NM_021185	genbank	human	validated	54_36p	missense	SNP	1.000	T
RNU6-599P	106481370	genome.wustl.edu	37	9	44110511	44110511	+	RNA	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:44110511T>C	ENST00000459383.1	-	0	0									RNA, U6 small nuclear 599, pseudogene																		GCACTTGCTTTCTTTTTCAAT	0.318																																																0			9																																								44050507			653436					9p11.2	2013-05-01			ENSG00000238529	ENSG00000238529			47562	pseudogene	RNA, pseudogene							Standard			Approved						9.37:g.44110511T>C			44050507		RNA	SNP	-	NULL	ENST00000459383.1	37	NULL		9																																																																																			-	-		0.318	RNU6-599P-201	KNOWN	basic	snRNA	LOC653436	snRNA		T			44050507	-1	pseudogene	XR_042306	genbank	human	model	54_36p	rna	SNP	0.072	C
ARID2	196528	genome.wustl.edu	37	12	46245723	46245723	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:46245723C>A	ENST00000334344.6	+	15	3989	c.3817C>A	c.(3817-3819)Cga>Aga	p.R1273R	ARID2_ENST00000444670.1_Silent_p.R883R|ARID2_ENST00000422737.1_Silent_p.R1124R|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428			"""N, S, F"""		hepatocellular carcinoma																																		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			12											51.0	51.0	51.0					12																	46245723		2203	4300	6503	44531990	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3817C>A	12.37:g.46245723C>A			44531990	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	"HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_""Winged helix"" DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1"	p.R1273	ENST00000334344.6	37	c.3817	CCDS31783.1	12																																																																																			-	NULL		0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	C	XM_350875		44531990	+1	no_errors	NM_152641	genbank	human	validated	54_36p	silent	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	9	44874146	44874146	+	IGR	SNP	G	G	T	rs77727598	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:44874146G>T								RP11-160N1.10 (3618 upstream) : FAM27C (116167 downstream)																							GAGAAATGAAGCCACACCACA	0.537													.|||	785	0.156749	0.1362	0.1599	5008	,	,		19106	0.126		0.171	False		,,,				2504	0.1994															0			9																																								44814142	SO:0001628	intergenic_variant	0																															9.37:g.44874146G>T			44814142		Missense_Mutation	SNP	NULL	p.A47S		37	c.139		9																																																																																			-	NULL	0	0.537					ENSG00000204813			G			44814142	+1	no_start_codon:no_stop_codon	ENST00000377544	ensembl	human	known	54_36p	missense	SNP	0.000	T
CELSR1	9620	genome.wustl.edu	37	22	46772988	46772988	+	Missense_Mutation	SNP	G	G	T	rs116079347	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:46772988G>T	ENST00000262738.3	-	24	7553	c.7554C>A	c.(7552-7554)ttC>ttA	p.F2518L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2518					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAATCACGAACACCAGCT	0.612													G|||	125	0.0249601	0.09	0.0086	5008	,	,		17992	0.0		0.0	False		,,,				2504	0.0															0			22						G	LEU/PHE	343,4063	177.6+/-206.5	11,321,1871	64.0	52.0	56.0		7554	0.9	0.8	22	dbSNP_132	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CELSR1	NM_014246.1	22	11,323,6169	TT,TG,GG		0.0233,7.7848,2.6526	probably-damaging	2518/3015	46772988	345,12661	2203	4300	6503	45151652	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7554C>A	22.37:g.46772988G>T	ENSP00000262738:p.Phe2518Leu		45151652	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.F2518L	ENST00000262738.3	37	c.7554	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846401	0.51164	0.077848	2.33E-4	ENSG00000075275	ENST00000262738	T	0.44482	0.92	4.67	0.883	0.19177	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	T	0.07369	0.0186	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.20306	-1.0279	10	0.72032	D	0.01	.	8.7801	0.34787	0.3752:0.0:0.6248:0.0	.	839;2518	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2518	ENSP00000262738:F2518L	ENSP00000262738:F2518L	F	-	3	2	CELSR1	45151652	0.999000	0.42202	0.836000	0.33094	0.078000	0.17371	0.424000	0.21330	0.423000	0.26033	-0.350000	0.07774	TTC	-	HMMPfam_7tm_2		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246		45151652	-1	no_errors	NM_014246	genbank	human	reviewed	54_36p	missense	SNP	0.995	T
CYP2B6	1555	genome.wustl.edu	37	19	41509968	41509968	+	Silent	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:41509968G>C	ENST00000324071.4	+	2	241	c.234G>C	c.(232-234)ctG>ctC	p.L78L	CYP2B6_ENST00000593831.1_Silent_p.L2L|CYP2B6_ENST00000330446.5_Silent_p.L38L|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	78					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TGGTCATGCTGTGTGGAGTAG	0.582																																																0			19											75.0	76.0	76.0					19																	41509968		2203	4300	6503	46201808	SO:0001819	synonymous_variant	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.234G>C	19.37:g.41509968G>C			46201808	B4DWP3|Q2V565|Q9UK46	Silent	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.L78	ENST00000324071.4	37	c.234	CCDS12570.1	19																																																																																			-	HMMPfam_p450,superfamily_Cytochrome_P450		0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	protein_coding	OTTHUMT00000463260.1	G	NM_000767		46201808	+1	no_errors	NM_000767	genbank	human	reviewed	54_36p	silent	SNP	0.040	C
PREX1	57580	genome.wustl.edu	37	20	47269204	47269204	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr20:47269204T>A	ENST00000371941.3	-	21	2409	c.2387A>T	c.(2386-2388)cAg>cTg	p.Q796L	PREX1_ENST00000396220.1_Missense_Mutation_p.Q796L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	796					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCGTGCTTCCTGGGCATCCTC	0.627																																																0			20											76.0	63.0	68.0					20																	47269204		2203	4300	6503	46702611	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2387A>T	20.37:g.47269204T>A	ENSP00000361009:p.Gln796Leu		46702611	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	"superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228"	p.Q796L	ENST00000371941.3	37	c.2387	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120247	0.77323	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38240	1.15;1.15	4.5	4.5	0.54988	.	0.110766	0.36972	U	0.002307	T	0.29524	0.0736	L	0.27053	0.805	0.35964	D	0.834847	P;P	0.44429	0.616;0.835	B;B	0.41946	0.254;0.371	T	0.46119	-0.9214	10	0.87932	D	0	.	13.8299	0.63373	0.0:0.0:0.0:1.0	.	796;93	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	796	ENSP00000361009:Q796L;ENSP00000379522:Q796L	ENSP00000361009:Q796L	Q	-	2	0	PREX1	46702611	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.945000	0.70226	1.667000	0.50832	0.460000	0.39030	CAG	-	superfamily_PDZ domain-like		0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	T	NM_020820		46702611	-1	no_errors	NM_020820	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MKNK1	8569	genome.wustl.edu	37	1	47034135	47034135	+	Silent	SNP	A	A	G	rs201471887		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:47034135A>G	ENST00000371946.4	-	9	815	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.L82L|MKNK1_ENST00000428112.2_Silent_p.L177L|MKNK1_ENST00000371945.4_Silent_p.L177L|MKNK1_ENST00000341183.5_Silent_p.L177L	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GATTCACACAATATATTTTCT	0.378																																																0			1											113.0	107.0	109.0					1																	47034135		2203	4300	6503	46806722	SO:0001819	synonymous_variant	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.652T>C	1.37:g.47034135A>G			46806722	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.L218	ENST00000371946.4	37	c.652	CCDS538.1	1																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST		0.378	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	protein_coding	OTTHUMT00000021897.2	A	NM_003684		46806722	-1	no_errors	NM_003684	genbank	human	validated	54_36p	silent	SNP	0.993	G
CELSR3	1951	genome.wustl.edu	37	3	48677416	48677416	+	Missense_Mutation	SNP	C	C	T	rs115648137	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:48677416C>T	ENST00000164024.4	-	34	9882	c.9602G>A	c.(9601-9603)cGg>cAg	p.R3201Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3206Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3201					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTGCTCCCGAGAGTTCGA	0.677													C|||	50	0.00998403	0.0356	0.0043	5008	,	,		15006	0.0		0.0	False		,,,				2504	0.0															0			3						C	GLN/ARG	136,4264	91.6+/-130.3	2,132,2066	33.0	40.0	37.0		9602	4.0	1.0	3	dbSNP_132	37	4,8592	3.7+/-12.6	0,4,4294	yes	missense	CELSR3	NM_001407.2	43	2,136,6360	TT,TC,CC		0.0465,3.0909,1.0773	possibly-damaging	3201/3313	48677416	140,12856	2200	4298	6498	48652420	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9602G>A	3.37:g.48677416C>T	ENSP00000164024:p.Arg3201Gln		48652420	O75092	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.R3201Q	ENST00000164024.4	37	c.9602	CCDS2775.1	3	19	0.0086996336996337	15	0.03048780487804878	4	0.011049723756906077	0	0.0	0	0.0	C	16.39	3.110689	0.56398	0.030909	4.65E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71698	-0.59;-0.58	4.92	3.98	0.46160	.	.	.	.	.	T	0.31327	0.0793	L	0.32530	0.975	0.43408	D	0.995548	P;P;P	0.47677	0.809;0.71;0.899	B;B;B	0.33799	0.17;0.082;0.082	T	0.53337	-0.8453	9	0.31617	T	0.26	.	16.7758	0.85550	0.0:0.8596:0.1404:0.0	.	3206;3201;3299	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	Q	3201;3206	ENSP00000164024:R3201Q;ENSP00000445694:R3206Q	ENSP00000164024:R3201Q	R	-	2	0	CELSR3	48652420	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	2.686000	0.46968	2.267000	0.75376	0.555000	0.69702	CGG	-	NULL		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48652420	-1	no_errors	NM_001407	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49052671	49052671	+	Missense_Mutation	SNP	C	C	T	rs148510310		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:49052671C>T	ENST00000608424.1	+	6	3355	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	WDR6_ENST00000448293.1_Missense_Mutation_p.R1055C|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000395474.3_Missense_Mutation_p.R1136C|WDR6_ENST00000415265.2_Missense_Mutation_p.R554C			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1106					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGGCCACCGTTGTGCCCT	0.587																																																0			3						C	CYS/ARG,,	0,4406		0,0,2203	96.0	76.0	83.0		3406,,	5.5	1.0	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,utr-3	WDR6,DALRD3	NM_018031.3,NM_001009996.1,NM_018114.4	180,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,	1136/1152,,	49052671	1,13005	2203	4300	6503	49027675	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.3316C>T	3.37:g.49052671C>T	ENSP00000477389:p.Arg1106Cys		49027675	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.R1106C	ENST00000608424.1	37	c.3316		3	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446829	0.63178	0.0	1.16E-4	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.61392	0.11;0.12	5.54	5.54	0.83059	.	0.297777	0.27792	N	0.017832	T	0.56834	0.2012	N	0.22421	0.69	0.44685	D	0.997673	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.62014	0.706;0.724;0.897	T	0.56335	-0.7996	10	0.41790	T	0.15	-27.41	8.6287	0.33906	0.0:0.8387:0.0:0.1613	.	554;1106;1055	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	C	1136;554;1055	ENSP00000378857:R1136C;ENSP00000413432:R1055C	ENSP00000378857:R1136C	R	+	1	0	WDR6	49027675	0.974000	0.33945	1.000000	0.80357	0.981000	0.71138	1.366000	0.34193	2.611000	0.88343	0.561000	0.74099	CGT	-	NULL		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	protein_coding	OTTHUMT00000471652.1	C			49027675	+1	no_errors	NM_018031	genbank	human	reviewed	54_36p	missense	SNP	0.970	T
CPT1B	1375	genome.wustl.edu	37	22	51012936	51012936	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:51012936C>G	ENST00000360719.2	-	8	1008	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	CPT1B_ENST00000312108.7_Missense_Mutation_p.E291Q|CPT1B_ENST00000405237.3_Missense_Mutation_p.E291Q|CPT1B_ENST00000395650.2_Missense_Mutation_p.E291Q|CPT1B_ENST00000440709.1_Missense_Mutation_p.E291Q|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.E257Q|CPT1B_ENST00000434492.2_Missense_Mutation_p.E88Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	291					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGATTTCTTCACGGTCCAGT	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0			22											203.0	166.0	178.0					22																	51012936		2203	4300	6503	49359802	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.871G>C	22.37:g.51012936C>G	ENSP00000353945:p.Glu291Gln		49359802	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2	p.E291Q	ENST00000360719.2	37	c.871	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652175	0.29336	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-1.51;-2.65;-1.51;-2.65	4.81	4.81	0.61882	.	0.051897	0.85682	D	0.000000	D	0.90943	0.7153	L	0.42632	1.34	0.46542	D	0.999098	D;B;B;P	0.65815	0.995;0.036;0.432;0.549	D;B;P;B	0.62955	0.909;0.204;0.491;0.34	D	0.86950	0.2085	10	0.06236	T	0.91	-18.6899	15.3912	0.74744	0.0:1.0:0.0:0.0	.	291;257;88;291	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	Q	291;291;291;257;291;88;291	ENSP00000385486:E291Q;ENSP00000312189:E291Q;ENSP00000353945:E291Q;ENSP00000409342:E257Q;ENSP00000414713:E291Q;ENSP00000410966:E88Q;ENSP00000379011:E291Q	ENSP00000312189:E291Q	E	-	1	0	CPT1B	49359802	0.737000	0.28175	0.995000	0.50966	0.905000	0.53344	2.729000	0.47327	2.503000	0.84419	0.561000	0.74099	GAA	-	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf		0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	protein_coding	OTTHUMT00000317264.5	C	NM_152246		49359802	-1	no_errors	NM_004377	genbank	human	reviewed	54_36p	missense	SNP	0.995	G
COBL	23242	genome.wustl.edu	37	7	51261214	51261214	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:51261214T>C	ENST00000265136.7	-	3	483	c.318A>G	c.(316-318)gaA>gaG	p.E106E	COBL_ENST00000395542.2_Silent_p.E106E|COBL_ENST00000441453.1_Silent_p.E106E|COBL_ENST00000395540.2_Silent_p.E106E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	106					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGACCGAATTTCAAGGGCAT	0.413																																					NSCLC(189;2119 2138 12223 30818 34679)											0			7											94.0	84.0	87.0					7																	51261214		2203	4300	6503	51228708	SO:0001819	synonymous_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.318A>G	7.37:g.51261214T>C			51228708	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	HMMPfam_Cobl,HMMPfam_WH2,HMMSmart_SM00246	p.E106	ENST00000265136.7	37	c.318	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	T	9.489	1.100144	0.20552	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.58	4.61	0.57282	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56547	-0.7961	4	.	.	.	.	8.8422	0.35148	0.0:0.7883:0.0:0.2117	.	.	.	.	D	25	.	.	N	-	1	0	COBL	51228708	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	1.794000	0.38774	1.154000	0.42482	-0.408000	0.06270	AAT	-	HMMPfam_Cobl		0.413	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	protein_coding	OTTHUMT00000342682.1	T	NM_015198		51228708	-1	no_errors	NM_015198	genbank	human	validated	54_36p	silent	SNP	0.971	C
CCDC155	147872	genome.wustl.edu	37	19	49920497	49920497	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:49920497G>T	ENST00000447857.3	+	19	1726	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	507						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGGGGCCAGCTCTGCCTGC	0.667																																																0			19											23.0	27.0	26.0					19																	49920497		1927	4113	6040	54612309	SO:0001583	missense	147872				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1521G>T	19.37:g.49920497G>T	ENSP00000404220:p.Gln507His		54612309	Q96MC3	Missense_Mutation	SNP	NULL	p.Q507H	ENST00000447857.3	37	c.1521	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	g	10.34	1.321941	0.23994	.	.	ENSG00000161609	ENST00000447857	T	0.37584	1.19	3.89	-0.915	0.10494	.	0.553031	0.15566	N	0.255707	T	0.31009	0.0783	M	0.72118	2.19	0.21147	N	0.999778	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.34378	-0.9831	10	0.72032	D	0.01	-27.4004	4.1027	0.10020	0.229:0.3904:0.3806:0.0	.	507;507	C9JGW3;Q8N6L0	.;CC155_HUMAN	H	507	ENSP00000404220:Q507H	ENSP00000404220:Q507H	Q	+	3	2	CCDC155	54612309	0.012000	0.17670	0.216000	0.23742	0.731000	0.41821	-0.212000	0.09319	0.046000	0.15833	0.450000	0.29827	CAG	-	NULL		0.667	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	protein_coding	OTTHUMT00000465436.2	G	NM_144688		54612309	+1	no_errors	NM_144688	genbank	human	provisional	54_36p	missense	SNP	0.456	T
PMEL	6490	genome.wustl.edu	37	12	56350847	56350847	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:56350847T>C	ENST00000548747.1	-	6	1902	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	PMEL_ENST00000539511.1_Missense_Mutation_p.T328A|PMEL_ENST00000548493.1_Missense_Mutation_p.T414A|PMEL_ENST00000536427.1_Intron|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_Missense_Mutation_p.T414A|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.T414A|PMEL_ENST00000550464.1_Missense_Mutation_p.T328A|PMEL_ENST00000360714.4_Missense_Mutation_p.T414A			P40967	PMEL_HUMAN	premelanosome protein	414	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						tgtgcagctgtggttccagaa	0.512																																																0			12											133.0	115.0	121.0					12																	56350847		2203	4300	6503	54637114	SO:0001583	missense	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1240A>G	12.37:g.56350847T>C	ENSP00000448828:p.Thr414Ala		54637114	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	superfamily_PKD domain,HMMPfam_PKD,HMMSmart_SM00089	p.T414A	ENST00000548747.1	37	c.1240	CCDS8897.1	12	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236513	0.39498	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000539511	T;T;T;T;T;T;T	0.08282	3.11;3.13;3.14;3.13;3.13;3.11;3.14	5.02	5.02	0.67125	.	0.000000	0.53938	D	0.000051	T	0.09598	0.0236	L	0.27053	0.805	0.31021	N	0.718125	P;D;P	0.53745	0.912;0.962;0.935	P;P;B	0.50896	0.6;0.653;0.428	T	0.07520	-1.0768	10	0.18710	T	0.47	-2.4907	11.702	0.51577	0.0:0.0:0.0:1.0	.	328;414;414	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	A	414;414;328;414;414;414;328	ENSP00000402758:T414A;ENSP00000449690:T414A;ENSP00000450036:T328A;ENSP00000448828:T414A;ENSP00000447374:T414A;ENSP00000353940:T414A;ENSP00000445005:T328A	ENSP00000353940:T414A	T	-	1	0	PMEL	54637114	0.511000	0.26179	0.988000	0.46212	0.234000	0.25298	0.790000	0.26900	2.183000	0.69458	0.533000	0.62120	ACA	-	NULL		0.512	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SILV	protein_coding	OTTHUMT00000409626.1	T	NM_006928		54637114	-1	no_errors	NM_006928	genbank	human	validated	54_36p	missense	SNP	0.987	C
LYPLA1	10434	genome.wustl.edu	37	8	54963653	54963653	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:54963653C>A	ENST00000316963.3	-	8	751	c.558G>T	c.(556-558)gtG>gtT	p.V186V	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000343231.6_Silent_p.V170V	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	186					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TTAGTTTTTCCACCGTAAGAG	0.448																																																0			8											127.0	118.0	121.0					8																	54963653		2203	4300	6503	55126206	SO:0001819	synonymous_variant	10434			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.558G>T	8.37:g.54963653C>A			55126206	O43202|Q9UQF9	Silent	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2	p.V186	ENST00000316963.3	37	c.558	CCDS6157.1	8																																																																																			-	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2		0.448	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	protein_coding	OTTHUMT00000378238.1	C			55126206	-1	no_errors	NM_006330	genbank	human	reviewed	54_36p	silent	SNP	0.213	A
OR5B17	219965	genome.wustl.edu	37	11	58126393	58126393	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:58126393G>T	ENST00000357377.3	-	1	149	c.150C>A	c.(148-150)gaC>gaA	p.D50E		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAGATGAGAGTCCAGCAGGA	0.468																																																0			11											83.0	80.0	81.0					11																	58126393		2201	4295	6496	57882969	SO:0001583	missense	219965			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.150C>A	11.37:g.58126393G>T	ENSP00000349945:p.Asp50Glu		57882969	Q6IEX1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.D50E	ENST00000357377.3	37	c.150	CCDS31548.1	11	.	.	.	.	.	.	.	.	.	.	g	5.086	0.201527	0.09652	.	.	ENSG00000197786	ENST00000357377	T	0.02709	4.19	3.6	0.551	0.17225	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04724	0.0128	M	0.70595	2.14	0.09310	N	1	P	0.36438	0.553	B	0.36030	0.216	T	0.26677	-1.0096	9	0.72032	D	0.01	-16.886	7.5733	0.27920	0.3904:0.0:0.6096:0.0	.	50	Q8NGF7	OR5BH_HUMAN	E	50	ENSP00000349945:D50E	ENSP00000349945:D50E	D	-	3	2	OR5B17	57882969	0.000000	0.05858	0.369000	0.25952	0.011000	0.07611	-0.394000	0.07296	0.212000	0.20703	-0.677000	0.03784	GAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.468	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B17	protein_coding	OTTHUMT00000394708.2	G	NM_001005489		57882969	-1	no_errors	NM_001005489	genbank	human	provisional	54_36p	missense	SNP	0.009	T
ELOVL7	79993	genome.wustl.edu	37	5	60060124	60060124	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:60060124C>T	ENST00000508821.1	-	7	743	c.429G>A	c.(427-429)gtG>gtA	p.V143V	ELOVL7_ENST00000505959.1_Silent_p.V130V|ELOVL7_ENST00000425382.1_Silent_p.V143V|ELOVL7_ENST00000438340.1_Silent_p.V143V	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	143					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GAAGGAAAGTCACTTGGCTAT	0.353																																																0			5											87.0	83.0	84.0					5																	60060124		2203	4300	6503	60095881	SO:0001819	synonymous_variant	79993			AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.429G>A	5.37:g.60060124C>T			60095881	Q589T3|Q9H5D0|Q9NT66	Silent	SNP	HMMPfam_ELO,PatternScan_ELO	p.V143	ENST00000508821.1	37	c.429	CCDS34164.1	5																																																																																			-	HMMPfam_ELO,PatternScan_ELO		0.353	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL7	protein_coding	OTTHUMT00000368195.1	C			60095881	-1	no_errors	NM_001104558	genbank	human	validated	54_36p	silent	SNP	1.000	T
BICC1	80114	genome.wustl.edu	37	10	60549137	60549137	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:60549137T>A	ENST00000373886.3	+	7	720	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	239					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AATATTTCAGTATCATTTAAA	0.393																																																0			10											142.0	135.0	138.0					10																	60549137		2203	4300	6503	60219143	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.716T>A	10.37:g.60549137T>A	ENSP00000362993:p.Val239Glu		60219143		Missense_Mutation	SNP	HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain	p.V239E	ENST00000373886.3	37	c.716	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965538	0.92855	.	.	ENSG00000122870	ENST00000373886	T	0.36157	1.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.61594	-0.7031	10	0.87932	D	0	-14.9001	15.9023	0.79387	0.0:0.0:0.0:1.0	.	239	Q9H694	BICC1_HUMAN	E	239	ENSP00000362993:V239E	ENSP00000362993:V239E	V	+	2	0	BICC1	60219143	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.810000	0.86072	2.153000	0.67306	0.533000	0.62120	GTA	-	NULL		0.393	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	protein_coding	OTTHUMT00000048150.2	T	NM_025044		60219143	+1	no_errors	NM_001080512	genbank	human	provisional	54_36p	missense	SNP	0.999	A
PTPRH	5794	genome.wustl.edu	37	19	55715407	55715407	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr19:55715407G>T	ENST00000376350.3	-	5	651	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	210	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTTCCTCACTGGGTTGTGAGC	0.507																																																0			19											57.0	51.0	53.0					19																	55715407		2203	4300	6503	60407219	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.629C>A	19.37:g.55715407G>T	ENSP00000365528:p.Pro210Gln		60407219	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.P210Q	ENST00000376350.3	37	c.629	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576627	0.45902	.	.	ENSG00000080031	ENST00000376350	T	0.58797	0.31	3.59	2.41	0.29592	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70518	0.3233	M	0.72118	2.19	0.09310	N	0.999991	D;D	0.89917	0.999;1.0	D;D	0.83275	0.964;0.996	T	0.55088	-0.8195	9	0.44086	T	0.13	.	8.0931	0.30811	0.0:0.2511:0.7489:0.0	.	32;210	Q9HD43-2;Q9HD43	.;PTPRH_HUMAN	Q	210	ENSP00000365528:P210Q	ENSP00000365528:P210Q	P	-	2	0	PTPRH	60407219	0.008000	0.16893	0.009000	0.14445	0.259000	0.26198	1.494000	0.35616	1.942000	0.56320	0.505000	0.49811	CCA	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.507	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	G			60407219	-1	no_errors	NM_002842	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
C5orf64	285668	genome.wustl.edu	37	5	60982795	60982795	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:60982795G>C	ENST00000505642.1	+	3	198	c.123G>C	c.(121-123)gaG>gaC	p.E41D	C5orf64_ENST00000313303.7_Missense_Mutation_p.E41D|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000513386.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	41						extracellular region (GO:0005576)				breast(1)	1						CTGCGATAGAGACAGAGTTCA	0.448																																																0			5											165.0	155.0	158.0					5																	60982795		1925	4147	6072	61018552	SO:0001583	missense	285668				CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.123G>C	5.37:g.60982795G>C	ENSP00000423157:p.Glu41Asp		61018552	Q2M2H1|Q8N1U8	Missense_Mutation	SNP	NULL	p.E41D	ENST00000505642.1	37	c.123	CCDS54860.1	5	.	.	.	.	.	.	.	.	.	.	G	6.342	0.431120	0.12045	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.37752	1.18;1.18	5.03	0.599	0.17519	.	0.696244	0.11835	N	0.524874	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.24048	-1.0171	10	0.25751	T	0.34	-0.252	4.921	0.13869	0.1894:0.0:0.561:0.2496	.	41	Q2M2E5	CE064_HUMAN	D	41	ENSP00000423157:E41D;ENSP00000318395:E41D	ENSP00000318395:E41D	E	+	3	2	C5orf64	61018552	0.014000	0.17966	0.000000	0.03702	0.304000	0.27724	0.604000	0.24164	-0.090000	0.12462	-0.345000	0.07892	GAG	-	NULL		0.448	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ37543	protein_coding	OTTHUMT00000368790.1	G	NM_173667		61018552	+1	no_errors	NM_173667	genbank	human	validated	54_36p	missense	SNP	0.000	C
AHNAK	79026	genome.wustl.edu	37	11	62292955	62292955	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:62292955C>T	ENST00000378024.4	-	5	9208	c.8934G>A	c.(8932-8934)aaG>aaA	p.K2978K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2978					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACATCGCCCTTCACCTTGG	0.512																																																0			11											159.0	169.0	165.0					11																	62292955		2202	4299	6501	62049531	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8934G>A	11.37:g.62292955C>T			62049531	A1A586	Silent	SNP	superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC	p.K2978	ENST00000378024.4	37	c.8934	CCDS31584.1	11																																																																																			-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62049531	-1	no_errors	NM_001620	genbank	human	validated	54_36p	silent	SNP	0.675	T
TTPA	7274	genome.wustl.edu	37	8	63978639	63978639	+	Missense_Mutation	SNP	C	C	T	rs138483857		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:63978639C>T	ENST00000260116.4	-	3	407	c.376G>A	c.(376-378)Gtt>Att	p.V126I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTGTAAAAACTTTGGGGTCC	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17750	0.0		0.0	False		,,,				2504	0.0															0			8						C	ILE/VAL	5,4401	6.2+/-15.9	0,5,2198	51.0	48.0	49.0		376	2.6	1.0	8	dbSNP_134	49	0,8600		0,0,4300	no	missense	TTPA	NM_000370.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	126/279	63978639	5,13001	2203	4300	6503	64141193	SO:0001583	missense	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.376G>A	8.37:g.63978639C>T	ENSP00000260116:p.Val126Ile		64141193	Q71V64	Missense_Mutation	SNP	superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C,HMMSmart_SEC14	p.V126I	ENST00000260116.4	37	c.376	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883837	0.33255	0.001135	0.0	ENSG00000137561	ENST00000260116	T	0.75367	-0.93	5.54	2.6	0.31112	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.465045	0.23780	N	0.044623	T	0.49795	0.1578	N	0.16201	0.385	0.27447	N	0.953548	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.40728	T	0.16	.	1.7941	0.03058	0.2286:0.4464:0.1122:0.2128	.	126	P49638	TTPA_HUMAN	I	126	ENSP00000260116:V126I	ENSP00000260116:V126I	V	-	1	0	TTPA	64141193	0.792000	0.28813	1.000000	0.80357	0.998000	0.95712	0.557000	0.23454	1.326000	0.45319	0.655000	0.94253	GTT	-	HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C,HMMSmart_SEC14		0.353	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	protein_coding	OTTHUMT00000378460.1	C	NM_000370		64141193	-1	no_errors	NM_000370	genbank	human	validated	54_36p	missense	SNP	0.987	T
THAP11	57215	genome.wustl.edu	37	16	67876829	67876829	+	Missense_Mutation	SNP	G	G	C	rs199582467|rs376100464		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr16:67876829G>C	ENST00000303596.1	+	1	617	c.372G>C	c.(370-372)caG>caC	p.Q124H	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	124	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcaacagcagcagcagcagc	0.687																																																0			16																																								66434330	SO:0001583	missense	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.372G>C	16.37:g.67876829G>C	ENSP00000304689:p.Gln124His		66434330	A4UCT5|A8K002|O94795	Missense_Mutation	SNP	HMMPfam_THAP,HMMSmart_DM3	p.Q124H	ENST00000303596.1	37	c.372	CCDS10847.1	16	.	.	.	.	.	.	.	.	.	.	G	0.889	-0.726031	0.03158	.	.	ENSG00000168286	ENST00000303596	T	0.63913	-0.07	4.26	-1.36	0.09085	Armadillo-like helical (1);	0.000000	0.32055	N	0.006647	T	0.45955	0.1368	L	0.49126	1.545	0.09310	N	1	P	0.39576	0.679	B	0.31751	0.135	T	0.40059	-0.9583	10	0.48119	T	0.1	-8.9074	8.6446	0.33998	0.5493:0.0:0.4507:0.0	.	124	Q96EK4	THA11_HUMAN	H	124	ENSP00000304689:Q124H	ENSP00000304689:Q124H	Q	+	3	2	THAP11	66434330	0.015000	0.18098	0.438000	0.26821	0.011000	0.07611	1.203000	0.32284	-0.281000	0.09141	-0.972000	0.02603	CAG	-	NULL		0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	protein_coding	OTTHUMT00000268879.1	G	NM_020457		66434330	+1	no_errors	NM_020457	genbank	human	reviewed	54_36p	missense	SNP	0.989	C
DIRAS3	9077	genome.wustl.edu	37	1	68512922	68512922	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:68512922A>T	ENST00000370981.1	-	4	695	c.59T>A	c.(58-60)cTg>cAg	p.L20Q	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.L20Q|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	20					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGGGCGGGCAGAAGCCGCAA	0.592																																																0			1											26.0	30.0	29.0					1																	68512922		2181	4270	6451	68285510	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.59T>A	1.37:g.68512922A>T	ENSP00000360020:p.Leu20Gln		68285510	B3KMP3	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174,HMMPfam_Ras	p.L20Q	ENST00000370981.1	37	c.59	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941535	0.34283	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.73897	-0.79;-0.79	4.15	-0.729	0.11158	.	.	.	.	.	T	0.53690	0.1812	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.55055	0.767	T	0.46762	-0.9168	9	0.87932	D	0	.	6.9754	0.24672	0.5444:0.0:0.4556:0.0	.	20	O95661	DIRA3_HUMAN	Q	20	ENSP00000360020:L20Q;ENSP00000378627:L20Q	ENSP00000360020:L20Q	L	-	2	0	DIRAS3	68285510	0.003000	0.15002	0.006000	0.13384	0.073000	0.16967	0.235000	0.17948	0.069000	0.16605	0.383000	0.25322	CTG	-	NULL		0.592	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	protein_coding	OTTHUMT00000026354.2	A	NM_004675		68285510	-1	no_errors	NM_004675	genbank	human	reviewed	54_36p	missense	SNP	0.005	T
PGM5	5239	genome.wustl.edu	37	9	71144548	71144548	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr9:71144548G>A	ENST00000396396.1	+	11	1909	c.1680G>A	c.(1678-1680)cgG>cgA	p.R560R		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	560					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAACTGGCCGGAGGGGACCCA	0.507																																																0			9											54.0	47.0	49.0					9																	71144548		2203	4299	6502	70334368	SO:0001819	synonymous_variant	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1680G>A	9.37:g.71144548G>A			70334368	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,PatternScan_PGM_PMM,PatternScan_TRYPSIN_HIS,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase C-terminal domain,HMMPfam_PGM_PMM_IV	p.R560	ENST00000396396.1	37	c.1680	CCDS6622.2	9																																																																																			-	superfamily_Phosphoglucomutase C-terminal domain		0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	protein_coding	OTTHUMT00000052548.2	G	NM_021965		70334368	+1	no_errors	NM_021965	genbank	human	validated	54_36p	silent	SNP	1.000	A
STRA6	64220	genome.wustl.edu	37	15	74488366	74488366	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:74488366G>A	ENST00000323940.5	-	5	634	c.389C>T	c.(388-390)gCc>gTc	p.A130V	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.A130V|STRA6_ENST00000423167.2_Missense_Mutation_p.A121V|STRA6_ENST00000535552.1_Missense_Mutation_p.A167V|STRA6_ENST00000432245.2_Missense_Mutation_p.A130V|STRA6_ENST00000449139.2_Missense_Mutation_p.A130V|STRA6_ENST00000563965.1_Missense_Mutation_p.A169V|STRA6_ENST00000574278.1_Missense_Mutation_p.A145V|STRA6_ENST00000395105.4_Missense_Mutation_p.A130V	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	130					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGGTGCTGAGGCGAGAGTCAG	0.627																																																0			15											71.0	58.0	62.0					15																	74488366		2198	4297	6495	72275419	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.389C>T	15.37:g.74488366G>A	ENSP00000326085:p.Ala130Val		72275419	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	NULL	p.A130V	ENST00000323940.5	37	c.389	CCDS10261.1	15	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090611	0.36855	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129;ENST00000432245	T;T;T;T;T	0.80566	-1.36;-1.36;-1.39;-1.38;-1.12	5.24	3.21	0.36854	.	0.887861	0.10105	N	0.715474	T	0.72061	0.3414	L	0.48362	1.52	0.09310	N	1	B;B;B;B;B;B	0.33171	0.226;0.226;0.4;0.136;0.136;0.226	B;B;B;B;B;B	0.30029	0.101;0.101;0.11;0.071;0.071;0.101	T	0.59236	-0.7492	10	0.40728	T	0.16	-3.8166	6.7725	0.23601	0.1046:0.1769:0.7185:0.0	.	167;168;130;121;130;169	F5GYI8;B7Z5G7;Q9BX79-2;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;.;STRA6_HUMAN;.	V	130;130;62;169;121;167;20;130	ENSP00000378537:A130V;ENSP00000326085:A130V;ENSP00000413012:A121V;ENSP00000440238:A167V;ENSP00000407176:A130V	ENSP00000326085:A130V	A	-	2	0	STRA6	72275419	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.706000	0.25690	0.576000	0.29452	0.655000	0.94253	GCC	-	NULL		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	protein_coding	OTTHUMT00000272891.1	G			72275419	-1	no_errors	NM_022369	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
NDST2	8509	genome.wustl.edu	37	10	75562281	75562281	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:75562281C>A	ENST00000309979.6	-	15	3136	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|NDST2_ENST00000299641.4_Missense_Mutation_p.K737N			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	860	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCTCAGCAGCTTCGACAACT	0.517																																																0			10											32.0	35.0	34.0					10																	75562281		2203	4300	6503	75232287	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2580G>T	10.37:g.75562281C>A	ENSP00000310657:p.Lys860Asn		75232287	Q2TB32|Q59H89	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1	p.K860N	ENST00000309979.6	37	c.2580	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516816	0.64634	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.57107	0.42;0.42	6.17	2.85	0.33270	.	0.096296	0.64402	D	0.000003	T	0.68933	0.3055	M	0.92026	3.265	0.54753	D	0.999981	P	0.47962	0.903	P	0.53549	0.729	T	0.73490	-0.3966	10	0.87932	D	0	.	9.0962	0.36640	0.1145:0.7078:0.1111:0.0666	.	860	P52849	NDST2_HUMAN	N	860;737	ENSP00000310657:K860N;ENSP00000299641:K737N	ENSP00000299641:K737N	K	-	3	2	NDST2	75232287	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.835000	0.39181	0.908000	0.36671	-0.181000	0.13052	AAG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1		0.517	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	protein_coding	OTTHUMT00000048710.1	C	NM_003635		75232287	-1	no_errors	NM_003635	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EIF4A3	9775	genome.wustl.edu	37	17	78112027	78112027	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr17:78112027C>T	ENST00000269349.3	-	8	1002	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	261	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TTCCACTCTTCCCTCTCCACT	0.463																																																0			17											207.0	179.0	188.0					17																	78112027		2203	4300	6503	75726622	SO:0001583	missense	9775			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.781G>A	17.37:g.78112027C>T	ENSP00000269349:p.Glu261Lys		75726622	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C	p.E261K	ENST00000269349.3	37	c.781	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850794	0.91277	.	.	ENSG00000141543	ENST00000269349	T	0.05025	3.51	5.12	4.15	0.48705	Helicase, C-terminal (1);	0.097389	0.64402	D	0.000002	T	0.10078	0.0247	L	0.39147	1.195	0.80722	D	1	D	0.53312	0.959	P	0.50192	0.634	T	0.03139	-1.1068	10	0.87932	D	0	-32.3749	11.0005	0.47602	0.0:0.9079:0.0:0.0921	.	261	P38919	IF4A3_HUMAN	K	261	ENSP00000269349:E261K	ENSP00000269349:E261K	E	-	1	0	EIF4A3	75726622	1.000000	0.71417	0.754000	0.31244	0.985000	0.73830	7.300000	0.78841	1.159000	0.42565	0.655000	0.94253	GAA	-	superfamily_SSF52540		0.463	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	protein_coding	OTTHUMT00000437446.1	C	NM_014740		75726622	-1	no_errors	NM_014740	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FRG2C	100288801	genome.wustl.edu	37	3	75718973	75718973	+	IGR	SNP	T	T	G	rs377680734		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:75718973T>G	ENST00000308062.3	+	0	2078					NM_001124759.1	NP_001118231.1	A6NGY1	FRG2C_HUMAN	FSHD region gene 2 family, member C							nucleus (GO:0005634)				breast(2)|ovary(1)	3						GGGCAAGGTGTGCTTGCGCCA	0.706																																																0			3																																								75801663	SO:0001628	intergenic_variant	0				CCDS43108.1	3p12.3	2009-11-25			ENSG00000172969	ENSG00000172969			33626	protein-coding gene	gene with protein product							Standard	NM_001124759		Approved			A6NGY1	OTTHUMG00000158963		3.37:g.75718973T>G			75801663		RNA	SNP	-	NULL	ENST00000308062.3	37	NULL	CCDS43108.1	3																																																																																			-	-		0.706	FRG2C-001	KNOWN	NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	LOC440015	protein_coding	OTTHUMT00000352694.1	T	NM_001124759.1		75801663	+1	no_errors	XR_015234	genbank	human	model	54_36p	rna	SNP	0.092	G
SH2D7	646892	genome.wustl.edu	37	15	78390852	78390852	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:78390852T>G	ENST00000328828.5	+	4	559	c.559T>G	c.(559-561)Tct>Gct	p.S187A	SH2D7_ENST00000409568.2_Missense_Mutation_p.S51A	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	187										endometrium(2)|kidney(2)|lung(3)	7						CCCCCGCTCTTCTCCAAAGCC	0.612																																																0			15											42.0	50.0	48.0					15																	78390852		1928	4128	6056	76177907	SO:0001583	missense	0				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.559T>G	15.37:g.78390852T>G	ENSP00000327846:p.Ser187Ala		76177907		Missense_Mutation	SNP	HMMSmart_SH2,superfamily_SSF55550,HMMPfam_SH2	p.S187A	ENST00000328828.5	37	c.559	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	T	9.439	1.087644	0.20390	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.33438	1.41;1.61	3.94	-6.16	0.02098	.	1.055570	0.07532	N	0.912445	T	0.11665	0.0284	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37033	-0.9723	10	0.05436	T	0.98	2.4401	1.6985	0.02867	0.2686:0.413:0.1587:0.1596	.	187	A6NKC9	SH2D7_HUMAN	A	51;187	ENSP00000386676:S51A;ENSP00000327846:S187A	ENSP00000327846:S187A	S	+	1	0	SH2D7	76177907	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.539000	0.02202	-0.989000	0.03485	0.454000	0.30748	TCT	-	NULL		0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	protein_coding	OTTHUMT00000334660.2	T	NM_001101404		76177907	+1	no_errors	NM_001101404	genbank	human	provisional	54_36p	missense	SNP	0.009	G
OTOGL	283310	genome.wustl.edu	37	12	80650115	80650115	+	Splice_Site	SNP	A	A	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:80650115A>C	ENST00000547103.1	+	16	1566		c.e16-1		OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTTTTACGCAGAATCTTGGC	0.438																																																0			12											76.0	67.0	70.0					12																	80650115		1852	4104	5956	79174246	SO:0001630	splice_region_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1561-1A>C	12.37:g.80650115A>C			79174246	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	-	e1-2	ENST00000547103.1	37	c.1-2		12	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255205	0.39896	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5908	0.76526	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79174246	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	7.411000	0.80078	2.170000	0.68504	0.533000	0.62120	.	-	-		0.438	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	C12orf64	protein_coding	OTTHUMT00000407438.1	A	NM_173591	Intron	79174246	+1	no_errors	ENST00000298820	ensembl	human	known	54_36p	splice_site	SNP	0.996	C
FGF5	2250	genome.wustl.edu	37	4	81188280	81188280	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:81188280T>G	ENST00000312465.7	+	1	528	c.302T>G	c.(301-303)cTg>cGg	p.L101R	FGF5_ENST00000456523.3_Missense_Mutation_p.L101R	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	101					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTTCCATCTGCAGATCTAC	0.582																																																0			4											47.0	52.0	51.0					4																	81188280		2202	4298	6500	81407304	SO:0001583	missense	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.302T>G	4.37:g.81188280T>G	ENSP00000311697:p.Leu101Arg		81407304	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF	p.L101R	ENST00000312465.7	37	c.302	CCDS34021.1	4	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854347	0.91355	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	D;D	0.90069	-1.54;-2.61	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95414	0.8511	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96219	0.9159	10	0.87932	D	0	.	15.794	0.78394	0.0:0.0:0.0:1.0	.	101;101	P12034-2;P12034	.;FGF5_HUMAN	R	101	ENSP00000311697:L101R;ENSP00000398353:L101R	ENSP00000311697:L101R	L	+	2	0	FGF5	81407304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.099000	0.76981	2.317000	0.78254	0.459000	0.35465	CTG	-	superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF		0.582	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	protein_coding	OTTHUMT00000252627.2	T			81407304	+1	no_errors	NM_004464	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CACNA2D1	781	genome.wustl.edu	37	7	81593415	81593415	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:81593415C>A	ENST00000356253.5	-	34	3028	c.2773G>T	c.(2773-2775)Gca>Tca	p.A925S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A913S|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A125S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	925					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AATATGTCTGCTACTGATGGC	0.348																																																0			7											42.0	45.0	44.0					7																	81593415		2198	4293	6491	81431351	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2773G>T	7.37:g.81593415C>A	ENSP00000348589:p.Ala925Ser		81431351	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2	p.A913S	ENST00000356253.5	37	c.2737		7	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949934	0.53186	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.74209	-0.82;-0.82;-0.82	5.36	2.48	0.30137	.	0.272168	0.41712	N	0.000832	T	0.78188	0.4244	M	0.81942	2.565	0.43798	D	0.996346	P;P	0.48230	0.532;0.907	B;P	0.52109	0.423;0.69	T	0.73084	-0.4094	10	0.30078	T	0.28	-3.6654	7.4754	0.27374	0.1179:0.6836:0.0:0.1985	.	125;913	B7Z658;P54289-2	.;.	S	913;932;925;125	ENSP00000349320:A913S;ENSP00000348589:A925S;ENSP00000443124:A125S	ENSP00000284088:A932S	A	-	1	0	CACNA2D1	81431351	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.445000	0.44899	0.300000	0.22699	-0.151000	0.13558	GCA	-	NULL		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	protein_coding		C			81431351	-1	no_errors	NM_000722	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FABP12	646486	genome.wustl.edu	37	8	82443522	82443522	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr8:82443522T>A	ENST00000360464.4	-	1	91	c.29A>T	c.(28-30)aAg>aTg	p.K10M	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	10							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						AGAAATGGACTTCCATGTTCC	0.398																																																0			8											99.0	92.0	95.0					8																	82443522		1869	4103	5972	82606077	SO:0001583	missense	0				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.29A>T	8.37:g.82443522T>A	ENSP00000353650:p.Lys10Met		82606077	B7SUN0	Missense_Mutation	SNP	superfamily_Lipocalins,HMMPfam_Lipocalin	p.K10M	ENST00000360464.4	37	c.29	CCDS47882.1	8	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175013	0.78564	.	.	ENSG00000197416	ENST00000360464	T	0.09911	2.93	4.83	4.83	0.62350	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.054825	0.64402	D	0.000001	T	0.43875	0.1267	H	0.94658	3.565	0.52501	D	0.999957	D	0.76494	0.999	D	0.74023	0.982	T	0.59894	-0.7368	9	.	.	.	.	14.5241	0.67875	0.0:0.0:0.0:1.0	.	10	A6NFH5	FBP12_HUMAN	M	10	ENSP00000353650:K10M	.	K	-	2	0	FABP12	82606077	1.000000	0.71417	0.933000	0.37362	0.899000	0.52679	5.487000	0.66863	2.140000	0.66376	0.533000	0.62120	AAG	-	superfamily_Lipocalins,HMMPfam_Lipocalin		0.398	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	protein_coding	OTTHUMT00000379720.1	T	NM_001105281		82606077	-1	no_errors	NM_001105281	genbank	human	provisional	54_36p	missense	SNP	0.991	A
SLC6A15	55117	genome.wustl.edu	37	12	85267016	85267016	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:85267016A>C	ENST00000266682.5	-	7	1500	c.959T>G	c.(958-960)tTt>tGt	p.F320C	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.F213C|SLC6A15_ENST00000309283.7_Missense_Mutation_p.F28C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	320					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTAGCTTGAAAAGGCAATGAC	0.443																																																0			12											164.0	157.0	159.0					12																	85267016		2203	4300	6503	83791147	SO:0001583	missense	55117			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.959T>G	12.37:g.85267016A>C	ENSP00000266682:p.Phe320Cys		83791147	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.F320C	ENST00000266682.5	37	c.959	CCDS9026.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.2|26.2	4.716218|4.716218	0.89205|0.89205	.|.	.|.	ENSG00000072041|ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612|ENST00000551388	T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.044876|0.044876	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87188|0.87188	0.6115|0.6115	H|H	0.94808|0.94808	3.585|3.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.987;0.992|.	D|D	0.90497|0.90497	0.4471|0.4471	10|7	0.87932|0.87932	D|D	0|0	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	28;320|.	F8WJN6;Q9H2J7|.	.;S6A15_HUMAN|.	C|V	28;320;36;213;28;36|15	ENSP00000311645:F28C;ENSP00000266682:F320C;ENSP00000450145:F213C;ENSP00000449263:F36C|.	ENSP00000266682:F320C|ENSP00000449619:F15V	F|F	-|-	2|1	0|0	SLC6A15|SLC6A15	83791147|83791147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.962000|8.962000	0.93254|0.93254	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|TTT	-	HMMPfam_SNF		0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	protein_coding	OTTHUMT00000405678.1	A	NM_018057, NM_182767		83791147	-1	no_errors	NM_182767	genbank	human	validated	54_36p	missense	SNP	1.000	C
AKAP13	11214	genome.wustl.edu	37	15	86259070	86259070	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:86259070C>T	ENST00000394518.2	+	20	5746	c.5651C>T	c.(5650-5652)aCc>aTc	p.T1884I	AKAP13_ENST00000361243.2_Missense_Mutation_p.T1888I|AKAP13_ENST00000394510.2_Missense_Mutation_p.T129I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1884					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGGATGAAACCGCTACCACC	0.522																																					Melanoma(94;603 1453 3280 32295 32951)											0			15											155.0	122.0	133.0					15																	86259070		2202	4299	6501	84060074	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5651C>T	15.37:g.86259070C>T	ENSP00000378026:p.Thr1884Ile		84060074	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH	p.T1888I	ENST00000394518.2	37	c.5663	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012651	0.54468	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.26223	2.83;2.82;1.75	5.2	5.2	0.72013	.	.	.	.	.	T	0.20901	0.0503	L	0.39898	1.24	0.09310	N	1	B;B;B	0.28850	0.007;0.144;0.225	B;B;B	0.27262	0.005;0.035;0.078	T	0.07347	-1.0777	9	0.33141	T	0.24	.	9.1643	0.37041	0.1639:0.6781:0.158:0.0	.	1866;1884;1888	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	1888;1884;1887;1865;129	ENSP00000354718:T1888I;ENSP00000378026:T1884I;ENSP00000378018:T129I	ENSP00000354718:T1888I	T	+	2	0	AKAP13	84060074	0.000000	0.05858	0.080000	0.20451	0.727000	0.41649	0.160000	0.16462	2.854000	0.98071	0.655000	0.94253	ACC	-	NULL		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	C	NM_007200		84060074	+1	no_errors	NM_006738	genbank	human	reviewed	54_36p	missense	SNP	0.009	T
AEN	64782	genome.wustl.edu	37	15	89172518	89172518	+	Missense_Mutation	SNP	C	C	T	rs368922473		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr15:89172518C>T	ENST00000332810.3	+	3	753	c.602C>T	c.(601-603)gCg>gTg	p.A201V	AEN_ENST00000379231.3_Missense_Mutation_p.A201V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	201	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GACTTCCAGGCGCTCAAGTAT	0.622																																																0			15						C	VAL/ALA	0,4400		0,0,2200	103.0	100.0	101.0		602	4.5	1.0	15		101	1,8597	1.2+/-3.3	0,1,4298	no	missense	AEN	NM_022767.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	201/326	89172518	1,12997	2200	4299	6499	86973522	SO:0001583	missense	64782			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.602C>T	15.37:g.89172518C>T	ENSP00000331944:p.Ala201Val		86973522	C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T	p.A201V	ENST00000332810.3	37	c.602	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767883	0.69878	0.0	1.16E-4	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.27402	1.67;1.67	5.4	4.48	0.54585	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000009	T	0.31857	0.0810	L	0.28504	0.86	0.53688	D	0.999971	D;D	0.58970	0.98;0.984	B;P	0.52454	0.444;0.699	T	0.01468	-1.1347	10	0.35671	T	0.21	-24.2756	12.6249	0.56623	0.0:0.9202:0.0:0.0798	.	201;201	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	V	201	ENSP00000331944:A201V;ENSP00000368533:A201V	ENSP00000331944:A201V	A	+	2	0	AEN	86973522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.707000	0.47143	2.517000	0.84864	0.655000	0.94253	GCG	-	superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T		0.622	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	protein_coding	OTTHUMT00000309071.1	C	NM_022767		86973522	+1	no_errors	NM_022767	genbank	human	validated	54_36p	missense	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92616307	92616307	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr11:92616307C>A	ENST00000298047.6	+	23	12702	c.12685C>A	c.(12685-12687)Cag>Aag	p.Q4229K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q4229K|FAT3_ENST00000533797.1_Missense_Mutation_p.Q564K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q4079K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4229					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGCCCCCGCAGGTCCCCGT	0.672										TCGA Ovarian(4;0.039)																																						0			11											58.0	72.0	68.0					11																	92616307		1960	4133	6093	92255955	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12685C>A	11.37:g.92616307C>A	ENSP00000298047:p.Gln4229Lys		92255955	B5MDB0|Q96AU6	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.Q4229K	ENST00000298047.6	37	c.12685		11	.	.	.	.	.	.	.	.	.	.	C	33	5.208602	0.95069	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87029	-0.97;-1.09;-0.97;-2.2	5.85	5.85	0.93711	.	.	.	.	.	D	0.93539	0.7938	M	0.80982	2.52	0.80722	D	1	D;B	0.69078	0.997;0.001	D;B	0.70935	0.971;0.001	D	0.91242	0.5022	9	0.28530	T	0.3	.	20.161	0.98133	0.0:1.0:0.0:0.0	.	4229;4229	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4229;4229;4079;564	ENSP00000298047:Q4229K;ENSP00000387040:Q4229K;ENSP00000432586:Q4079K;ENSP00000436399:Q564K	ENSP00000298047:Q4229K	Q	+	1	0	FAT3	92255955	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.719000	0.84751	2.770000	0.95276	0.655000	0.94253	CAG	-	NULL		0.672	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781		92255955	+1	no_errors	NM_001008781	genbank	human	validated	54_36p	missense	SNP	1.000	A
BTBD7	55727	genome.wustl.edu	37	14	93709348	93709348	+	Silent	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr14:93709348C>T	ENST00000334746.5	-	11	2977	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	BTBD7_ENST00000554565.1_Silent_p.E539E|BTBD7_ENST00000393170.2_Silent_p.E464E	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	890					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTACAGCAAGCTCTGGAAGCC	0.527																																																0			14											175.0	162.0	166.0					14																	93709348		2203	4300	6503	92779101	SO:0001819	synonymous_variant	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2670G>A	14.37:g.93709348C>T			92779101	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK	p.E890	ENST00000334746.5	37	c.2670	CCDS32146.1	14																																																																																			-	NULL		0.527	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	protein_coding	OTTHUMT00000412701.1	C	NM_001002860		92779101	-1	no_errors	NM_001002860	genbank	human	validated	54_36p	silent	SNP	0.990	T
Unknown	0	genome.wustl.edu	37	2	95424166	95424166	+	IGR	SNP	G	G	A	rs149185590	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:95424166G>A								None (None upstream) : ANKRD20A8P (55682 downstream)																							tggcagccaggactcagccct	0.488													.|||	115	0.0229633	0.0847	0.0043	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0															0			2																																								94787893	SO:0001628	intergenic_variant	90499																															2.37:g.95424166G>A			94787893		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.488					LOC90499			G			94787893	-1	no_errors	XR_042127	genbank	human	model	54_36p	rna	SNP	0.000	A
ACSM6	142827	genome.wustl.edu	37	10	96971700	96971700	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:96971700T>C	ENST00000394005.3	+	5	830	c.821T>C	c.(820-822)tTa>tCa	p.L274S	C10orf129_ENST00000430183.1_Missense_Mutation_p.L119S|C10orf129_ENST00000341686.3_Missense_Mutation_p.L274S			Q6P461	ACSM6_HUMAN		274					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGTGGATCTTTATCCCTGAGC	0.478																																																0			10											178.0	154.0	162.0					10																	96971700		2203	4300	6503	96961690	SO:0001583	missense	142827																														ENST00000394005.3:c.821T>C	10.37:g.96971700T>C	ENSP00000377573:p.Leu274Ser		96961690	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	HMMPfam_AMP-binding,superfamily_SSF56801	p.L119S	ENST00000394005.3	37	c.356	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	T	1.039	-0.679298	0.03353	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.12361	3.07;2.69;3.07	1.69	1.69	0.24217	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.04363	0.0120	N	0.01874	-0.695	0.18873	N	0.999986	B	0.17852	0.024	B	0.15052	0.012	T	0.44190	-0.9344	9	0.18710	T	0.47	.	5.872	0.18809	0.0:0.0:0.0:1.0	.	274	Q6P461	ACSM6_HUMAN	S	300;274;119;274	ENSP00000340296:L274S;ENSP00000400368:L119S;ENSP00000377573:L274S	ENSP00000340296:L274S	L	+	2	0	C10orf129	96961690	0.000000	0.05858	0.003000	0.11579	0.756000	0.42949	0.434000	0.21494	0.745000	0.32763	0.372000	0.22366	TTA	-	HMMPfam_AMP-binding,superfamily_SSF56801		0.478	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	protein_coding	OTTHUMT00000049506.2	T			96961690	+1	no_errors	NM_207321	genbank	human	validated	54_36p	missense	SNP	0.949	C
ZNF518A	9849	genome.wustl.edu	37	10	97916761	97916761	+	RNA	SNP	A	A	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr10:97916761A>T	ENST00000534948.1	+	0	1539							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCACATTCATAGACATAATGA	0.353																																																0			10											147.0	144.0	145.0					10																	97916761		1904	4117	6021	97906751			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916761A>T			97906751	A0PJI5|O15044|Q32MP4	Nonsense_Mutation	SNP	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.R228*	ENST00000534948.1	37	c.682		10																																																																																			-	HMMSmart_SM00355		0.353	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518	processed_transcript		A	NM_014803		97906751	+1	no_errors	ENST00000371192	ensembl	human	known	54_36p	nonsense	SNP	1.000	T
OR5K4	403278	genome.wustl.edu	37	3	98073009	98073009	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:98073009C>A	ENST00000354924.2	+	1	312	c.312C>A	c.(310-312)ctC>ctA	p.L104L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTTATTTTCTCTGTCTTGCTG	0.448																																																0			3											226.0	232.0	230.0					3																	98073009		2203	4300	6503	99555699	SO:0001819	synonymous_variant	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.312C>A	3.37:g.98073009C>A			99555699		Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L104	ENST00000354924.2	37	c.312	CCDS33802.1	3																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.448	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	protein_coding	OTTHUMT00000359114.1	C			99555699	+1	no_errors	NM_001005517	genbank	human	provisional	54_36p	silent	SNP	0.000	A
PCCA	5095	genome.wustl.edu	37	13	100953816	100953816	+	Missense_Mutation	SNP	C	C	A	rs199969765		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr13:100953816C>A	ENST00000376285.1	+	13	1206	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S	PCCA_ENST00000376279.3_Missense_Mutation_p.R390S|PCCA_ENST00000376286.4_Missense_Mutation_p.R364S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	390	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATATTCGCATCAACGG	0.498																																																0			13											181.0	163.0	169.0					13																	100953816		2203	4300	6503	99751817	SO:0001583	missense	5095			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1168C>A	13.37:g.100953816C>A	ENSP00000365462:p.Arg390Ser		99751817	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudmnt_hyb_motif,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_BIOTIN	p.R390S	ENST00000376285.1	37	c.1168	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776018	0.49786	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97688	-4.49;-4.49;-4.49	5.65	5.65	0.86999	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.099922	0.64402	D	0.000001	D	0.93900	0.8048	N	0.17838	0.53	0.30638	N	0.756718	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.003;0.001	D	0.89583	0.3822	10	0.40728	T	0.16	.	13.3313	0.60488	0.0:0.9278:0.0:0.0722	.	390;364;390	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	S	364;390;390	ENSP00000365463:R364S;ENSP00000365456:R390S;ENSP00000365462:R390S	ENSP00000365456:R390S	R	+	1	0	PCCA	99751817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.864000	0.69575	2.827000	0.97445	0.650000	0.86243	CGC	-	HMMPfam_CPSase_L_D2,superfamily_SSF56059		0.498	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	protein_coding	OTTHUMT00000045627.2	C			99751817	+1	no_errors	NM_000282	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MUC17	140453	genome.wustl.edu	37	7	100683048	100683048	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:100683048C>A	ENST00000306151.4	+	3	8415	c.8351C>A	c.(8350-8352)aCt>aAt	p.T2784N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2784	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCACCACTTCTACTGAA	0.478																																																0			7											253.0	246.0	248.0					7																	100683048		2203	4300	6503	100469768	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8351C>A	7.37:g.100683048C>A	ENSP00000302716:p.Thr2784Asn		100469768	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.T2784N	ENST00000306151.4	37	c.8351	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635702	0.14322	.	.	ENSG00000169876	ENST00000306151	T	0.02974	4.09	1.06	0.122	0.14702	.	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	P	0.51653	0.947	P	0.55965	0.788	T	0.44406	-0.9330	9	0.26408	T	0.33	.	3.8136	0.08806	0.0:0.5217:0.0:0.4783	.	2784	Q685J3	MUC17_HUMAN	N	2784	ENSP00000302716:T2784N	ENSP00000302716:T2784N	T	+	2	0	MUC17	100469768	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.316000	0.19469	0.034000	0.15491	0.134000	0.15878	ACT	-	NULL		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100469768	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	missense	SNP	0.000	A
OLFM3	118427	genome.wustl.edu	37	1	102462358	102462358	+	Silent	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:102462358G>C	ENST00000370103.4	-	1	228	c.15C>G	c.(13-15)tcC>tcG	p.S5S	OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	19					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGAGAAGGTTGGACGTCGCCT	0.443																																																0			1											158.0	160.0	160.0					1																	102462358		2203	4300	6503	102234946	SO:0001819	synonymous_variant	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000370103.4:c.15C>G	1.37:g.102462358G>C			102234946	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.S5	ENST00000370103.4	37	c.15	CCDS30781.1	1																																																																																			-	NULL		0.443	OLFM3-003	KNOWN	basic|CCDS	protein_coding	OLFM3	protein_coding	OTTHUMT00000030144.1	G			102234946	-1	no_errors	NM_058170	genbank	human	validated	54_36p	silent	SNP	1.000	C
ZBTB11	27107	genome.wustl.edu	37	3	101370048	101370048	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr3:101370048C>G	ENST00000312938.4	-	11	3704	c.3124G>C	c.(3124-3126)Gtt>Ctt	p.V1042L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTACTTTAACAGTTTGAATA	0.353																																																0			3											135.0	134.0	135.0					3																	101370048		2203	4300	6503	102852738	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3124G>C	3.37:g.101370048C>G	ENSP00000326200:p.Val1042Leu		102852738	Q2NKP9	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.V1042L	ENST00000312938.4	37	c.3124	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226830	0.79576	.	.	ENSG00000066422	ENST00000312938	T	0.11169	2.8	5.39	5.39	0.77823	.	0.056466	0.64402	D	0.000001	T	0.10594	0.0259	L	0.27053	0.805	0.80722	D	1	P	0.47350	0.894	B	0.39935	0.314	T	0.04855	-1.0922	10	0.51188	T	0.08	-12.121	19.5182	0.95174	0.0:1.0:0.0:0.0	.	1042	O95625	ZBT11_HUMAN	L	1042	ENSP00000326200:V1042L	ENSP00000326200:V1042L	V	-	1	0	ZBTB11	102852738	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.334000	0.65923	2.692000	0.91855	0.555000	0.69702	GTT	-	NULL		0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	protein_coding	OTTHUMT00000353441.2	C	NM_014415		102852738	-1	no_errors	NM_014415	genbank	human	validated	54_36p	missense	SNP	1.000	G
CKAP4	10970	genome.wustl.edu	37	12	106633423	106633423	+	Silent	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:106633423C>A	ENST00000378026.4	-	2	1324	c.1188G>T	c.(1186-1188)tcG>tcT	p.S396S	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S396S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CAAAGGCTTCCGAGTGTCTGA	0.637																																																1	Substitution - coding silent(1)	large_intestine(1)	12											54.0	56.0	56.0					12																	106633423		2203	4300	6503	105157553	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1188G>T	12.37:g.106633423C>A			105157553	Q504S5|Q53ES6	Silent	SNP	NULL	p.S396	ENST00000378026.4	37	c.1188	CCDS9103.1	12																																																																																			-	NULL		0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	C			105157553	-1	no_errors	NM_006825	genbank	human	validated	54_36p	silent	SNP	0.000	A
ACACB	32	genome.wustl.edu	37	12	109617851	109617851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr12:109617851G>T	ENST00000338432.7	+	11	1896	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	ACACB_ENST00000377848.3_Nonsense_Mutation_p.E593*|ACACB_ENST00000377854.5_Nonsense_Mutation_p.E593*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	593	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCCTGCACAGAAATGATTGC	0.552																																																0			12											95.0	86.0	89.0					12																	109617851		2203	4300	6503	108102234	SO:0001587	stop_gained	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1777G>T	12.37:g.109617851G>T	ENSP00000341044:p.Glu593*		108102234	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudiment single hybrid motif,HMMPfam_Biotin_carb_C,superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,HMMPfam_ACC_central,superfamily_ClpP/crotonase,HMMPfam_Carboxyl_trans	p.E593*	ENST00000338432.7	37	c.1777	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.471619	0.96274	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7586	0.88457	0.0:0.0:1.0:0.0	.	.	.	.	X	593	.	ENSP00000341044:E593X	E	+	1	0	ACACB	108102234	1.000000	0.71417	0.944000	0.38274	0.626000	0.37791	9.729000	0.98795	2.193000	0.70182	0.563000	0.77884	GAA	-	superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	G	NM_001093		108102234	+1	no_errors	NM_001093	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	T
KRT18P42	391819	genome.wustl.edu	37	5	108924656	108924656	+	IGR	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:108924656C>T								RP11-231G15.1 (89847 upstream) : AC012603.1 (96624 downstream)																							AGAAGAACCACGAAGAAGAAG	0.532																																																0			5																																								108952555	SO:0001628	intergenic_variant	391819																															5.37:g.108924656C>T			108952555		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.532					KRT18P42			C			108952555	+1	pseudogene	XR_016386	genbank	human	model	54_36p	rna	SNP	1.000	T
RGAG1	57529	genome.wustl.edu	37	X	109696287	109696287	+	Silent	SNP	T	T	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrX:109696287T>C	ENST00000465301.2	+	3	2688	c.2442T>C	c.(2440-2442)gcT>gcC	p.A814A	RGAG1_ENST00000540313.1_Silent_p.A814A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	814										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCCCCAGCTTATGGAGCCA	0.532																																																0			X											100.0	96.0	97.0					X																	109696287		2203	4300	6503	109582943	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2442T>C	X.37:g.109696287T>C			109582943	Q9P2M8	Silent	SNP	HMMPfam_Retrotrans_gag	p.A814	ENST00000465301.2	37	c.2442	CCDS14552.1	X																																																																																			-	NULL		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	protein_coding	OTTHUMT00000057906.2	T	NM_020769		109582943	+1	no_errors	NM_020769	genbank	human	provisional	54_36p	silent	SNP	0.055	C
ZBTB24	9841	genome.wustl.edu	37	6	109796645	109796645	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:109796645G>A	ENST00000230122.3	-	5	1412	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	415					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACACATCCATGAATTTGCGAT	0.463																																																0			6											220.0	180.0	194.0					6																	109796645		2203	4300	6503	109903338	SO:0001819	synonymous_variant	9841			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1245C>T	6.37:g.109796645G>A			109903338	Q17RC6|Q5TED5|Q8N455	Silent	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_AT_hook,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.F415	ENST00000230122.3	37	c.1245	CCDS34509.1	6																																																																																			-	HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	protein_coding	OTTHUMT00000041758.1	G	NM_014797		109903338	-1	no_errors	NM_014797	genbank	human	provisional	54_36p	silent	SNP	1.000	A
TFDP1	7027	genome.wustl.edu	37	13	114290296	114290296	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr13:114290296T>G	ENST00000375370.5	+	9	904	c.692T>G	c.(691-693)aTt>aGt	p.I231S	TFDP1_ENST00000544902.1_Missense_Mutation_p.I136S|TFDP1_ENST00000538138.1_Missense_Mutation_p.I136S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	231	DCB1.|Dimerization. {ECO:0000255}.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTTTAGCAAATTGCCTTCAAG	0.607										TSP Lung(29;0.18)																																						0			13											41.0	45.0	44.0					13																	114290296		2203	4300	6503	113338297	SO:0001583	missense	7027			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.692T>G	13.37:g.114290296T>G	ENSP00000364519:p.Ile231Ser		113338297	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	HMMPfam_E2F_TDP,superfamily_SSF46785,HMMPfam_DP	p.I231S	ENST00000375370.5	37	c.692	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132668	0.77662	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	T;T;T;T	0.46451	0.87;1.78;0.93;1.31	4.02	4.02	0.46733	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.982;0.982;0.989;0.999	T	0.68161	-0.5482	10	0.87932	D	0	.	12.9609	0.58458	0.0:0.0:0.0:1.0	.	136;136;136;231	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	S	136;231;136;231	ENSP00000443878:I136S;ENSP00000364519:I231S;ENSP00000438450:I136S;ENSP00000386145:I231S	ENSP00000364519:I231S	I	+	2	0	TFDP1	113338297	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.208000	0.77907	1.457000	0.47850	0.402000	0.26972	ATT	-	HMMPfam_DP		0.607	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	protein_coding	OTTHUMT00000045918.3	T	NM_007111		113338297	+1	no_errors	NM_007111	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PSD4	23550	genome.wustl.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																																0			2						T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	113656750	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T			113656750	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.D82	ENST00000245796.6	37	c.246	CCDS33276.1	2																																																																																			-	NULL		0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	protein_coding	OTTHUMT00000330789.1	C	NM_012455		113656750	+1	no_errors	NM_012455	genbank	human	validated	54_36p	silent	SNP	0.248	T
ANK2	287	genome.wustl.edu	37	4	114274446	114274446	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr4:114274446G>T	ENST00000357077.4	+	38	4725	c.4672G>T	c.(4672-4674)Gac>Tac	p.D1558Y	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D1525Y|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1558					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTTAAAGAGGACTTAGAGAA	0.453																																																0			4											61.0	64.0	63.0					4																	114274446		2203	4300	6503	114493895	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4672G>T	4.37:g.114274446G>T	ENSP00000349588:p.Asp1558Tyr		114493895	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.D1558Y	ENST00000357077.4	37	c.4672	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400719	0.62177	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.77620	-0.55;-0.72;-1.11;-1.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000020	D	0.88051	0.6333	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.71414	0.917;0.973	D	0.89192	0.3551	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1525;1558	Q01484;Q01484-4	ANK2_HUMAN;.	Y	1471;1573;1558;1525	ENSP00000421011:D1471Y;ENSP00000424722:D1573Y;ENSP00000349588:D1558Y;ENSP00000264366:D1525Y	ENSP00000264366:D1525Y	D	+	1	0	ANK2	114493895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.500000	0.84329	0.650000	0.86243	GAC	-	NULL		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114493895	+1	no_errors	NM_001148	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PCDHA6	56142	genome.wustl.edu	37	5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	rs150162226	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	97	Cadherin 1. {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)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGC	0.577																																																0			5											111.0	127.0	121.0					5																	140207965		2203	4291	6494	140188149	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		140188149	O75283|Q9NRT8	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.G97R	ENST00000529310.1	37	c.289	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG	-	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	G	NM_018909		140188149	+1	no_errors	NM_018909	genbank	human	reviewed	54_36p	missense	SNP	0.878	C
TCERG1	10915	genome.wustl.edu	37	5	145862219	145862219	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:145862219G>A	ENST00000296702.5	+	13	1989	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A630T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	651					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATTAAAGCTGCCCGAGAAAG	0.418																																																0			5											51.0	53.0	52.0					5																	145862219		2203	4300	6503	145842412	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1951G>A	5.37:g.145862219G>A	ENSP00000296702:p.Ala651Thr		145842412	Q2NKN2|Q59EA1	Missense_Mutation	SNP	superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF	p.A651T	ENST00000296702.5	37	c.1951	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715124	0.89112	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26660	1.72;1.72	5.95	5.95	0.96441	FF domain (2);	0.047417	0.85682	D	0.000000	T	0.53690	0.1812	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.74674	0.962;0.984	T	0.42050	-0.9474	10	0.38643	T	0.18	-9.602	20.3719	0.98893	0.0:0.0:1.0:0.0	.	630;651	O14776-2;O14776	.;TCRG1_HUMAN	T	651;630	ENSP00000296702:A651T;ENSP00000377943:A630T	ENSP00000296702:A651T	A	+	1	0	TCERG1	145842412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.826000	0.97356	0.491000	0.48974	GCC	-	superfamily_FF domain		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	protein_coding	OTTHUMT00000251886.1	G	NM_001040006		145842412	+1	no_errors	NM_006706	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrUnknown:0G>C								None (None upstream) : None (None downstream)																								0.0																																																0			X																																								148576801	SO:0001628	intergenic_variant	4110																															Unknown.37:g.0G>C			148576801		Missense_Mutation	SNP	HMMPfam_MAGE	p.S153C		37	c.458		X																																																																																			-	NULL	0	0					MAGEA11			G			148576801	-1	no_errors	NM_005366	genbank	human	reviewed	54_36p	missense	SNP	0.017	C
SSPO	23145	genome.wustl.edu	37	7	149492763	149492763	+	RNA	SNP	C	C	T	rs140637788	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:149492763C>T	ENST00000378016.2	+	0	6534							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTATCACCCGCCCAAGGCC	0.607													C|||	4	0.000798722	0.0	0.0	5008	,	,		20117	0.001		0.0	False		,,,				2504	0.0031															0			7											134.0	142.0	139.0					7																	149492763		2037	4185	6222	149123696			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492763C>T			149123696	Q76B61	Silent	SNP	HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00214,HMMPfam_VWC,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C	p.P1189	ENST00000378016.2	37	c.3567		7																																																																																			-	NULL		0.607	SSPO-202	KNOWN	basic	processed_transcript	ENSG00000197558	processed_transcript		C			149123696	+1	no_start_codon	ENST00000262089	ensembl	human	novel	54_36p	silent	SNP	0.000	T
PSMB4	5692	genome.wustl.edu	37	1	151372123	151372123	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:151372123G>C	ENST00000290541.6	+	1	114	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCAGGACAGTTTTACCGCA	0.572																																																0			1											64.0	66.0	66.0					1																	151372123		2203	4300	6503	149638747	SO:0001583	missense	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.60G>C	1.37:g.151372123G>C	ENSP00000290541:p.Gln20His		149638747	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B	p.Q20H	ENST00000290541.6	37	c.60	CCDS996.1	1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535235	0.27475	.	.	ENSG00000159377	ENST00000290541	T	0.52983	0.64	5.21	3.19	0.36642	.	0.413092	0.27595	N	0.018675	T	0.13457	0.0326	N	0.08118	0	0.42328	D	0.992286	B;B	0.12013	0.005;0.002	B;B	0.11329	0.006;0.003	T	0.04976	-1.0914	10	0.45353	T	0.12	-14.2281	11.2848	0.49216	0.0:0.3574:0.6425:0.0	.	20;20	B4DFL3;P28070	.;PSB4_HUMAN	H	20	ENSP00000290541:Q20H	ENSP00000290541:Q20H	Q	+	3	2	PSMB4	149638747	0.998000	0.40836	1.000000	0.80357	0.384000	0.30261	1.019000	0.30014	1.175000	0.42826	-0.305000	0.09177	CAG	-	NULL		0.572	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	PSMB4	protein_coding	OTTHUMT00000034885.1	G	NM_002796		149638747	+1	no_errors	NM_002796	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
HRNR	388697	genome.wustl.edu	37	1	152193031	152193031	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:152193031G>A	ENST00000368801.2	-	3	1149	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	358					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATAGCCAGAGGACTGTCCTG	0.547																																																0			1											141.0	139.0	139.0					1																	152193031		2203	4300	6503	150459655	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1074C>T	1.37:g.152193031G>A			150459655	Q5DT20|Q5U1F4	Silent	SNP	PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,superfamily_SSF47473	p.S358	ENST00000368801.2	37	c.1074	CCDS30859.1	1																																																																																			-	NULL		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	G	XM_373868		150459655	-1	no_errors	NM_001009931	genbank	human	validated	54_36p	silent	SNP	0.000	A
CD1D	912	genome.wustl.edu	37	1	158151290	158151290	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158151290T>A	ENST00000368171.3	+	3	606	c.107T>A	c.(106-108)tTc>tAc	p.F36Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	36					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ATCTCGTCCTTCGCCAATAGC	0.637																																																0			1											154.0	171.0	166.0					1																	158151290		2203	4300	6503	156417914	SO:0001583	missense	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.107T>A	1.37:g.158151290T>A	ENSP00000357153:p.Phe36Tyr		156417914	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1	p.F36Y	ENST00000368171.3	37	c.107	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540466	0.65085	.	.	ENSG00000158473	ENST00000368171	T	0.08008	3.14	4.44	3.31	0.37934	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.47852	D	0.000209	T	0.11879	0.0289	M	0.78344	2.41	0.09310	N	1	D	0.76494	0.999	D	0.64687	0.928	T	0.06427	-1.0827	10	0.56958	D	0.05	-18.8484	6.8415	0.23965	0.0:0.1064:0.0:0.8936	.	36	P15813	CD1D_HUMAN	Y	36	ENSP00000357153:F36Y	ENSP00000357153:F36Y	F	+	2	0	CD1D	156417914	0.021000	0.18746	0.009000	0.14445	0.074000	0.17049	1.234000	0.32660	0.831000	0.34780	0.533000	0.62120	TTC	-	HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog		0.637	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	protein_coding	OTTHUMT00000058340.1	T	NM_001766		156417914	+1	no_errors	NM_001766	genbank	human	reviewed	54_36p	missense	SNP	0.015	A
OR10R2	343406	genome.wustl.edu	37	1	158450551	158450551	+	Missense_Mutation	SNP	C	C	T	rs142790175		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158450551C>T	ENST00000368152.1	+	1	884	c.884C>T	c.(883-885)aCg>aTg	p.T295M	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T295M(1)|p.V296fs*16(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGGCTGGTGACGGTGACATAC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		16488	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(1)|Insertion - Frameshift(1)	lung(1)|pancreas(1)	1						C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	162.0	137.0	146.0		884	2.3	0.0	1	dbSNP_134	146	8,8592	6.4+/-24.3	0,8,4292	yes	missense	OR10R2	NM_001004472.1	81	0,11,6492	TT,TC,CC		0.093,0.0681,0.0846	probably-damaging	295/336	158450551	11,12995	2203	4300	6503	156717175	SO:0001583	missense	343406			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.884C>T	1.37:g.158450551C>T	ENSP00000357134:p.Thr295Met		156717175	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T295M	ENST00000368152.1	37	c.884	CCDS30898.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	7.604	0.673384	0.14776	6.81E-4	9.3E-4	ENSG00000198965	ENST00000368152	T	0.00174	8.62	4.2	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	M	0.85373	2.75	0.09310	N	1	P	0.47484	0.896	B	0.42163	0.378	T	0.07158	-1.0787	9	0.87932	D	0	.	9.6498	0.39890	0.0:0.823:0.0:0.177	.	295	Q8NGX6	O10R2_HUMAN	M	295	ENSP00000357134:T295M	ENSP00000357134:T295M	T	+	2	0	OR10R2	156717175	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	0.526000	0.22971	0.402000	0.25451	0.655000	0.94253	ACG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.448	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	protein_coding	OTTHUMT00000051847.2	C	NM_001004472		156717175	+1	no_errors	NM_001004472	genbank	human	provisional	54_36p	missense	SNP	0.001	T
SPTA1	6708	genome.wustl.edu	37	1	158609712	158609712	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:158609712C>G	ENST00000368147.4	-	34	5003	c.4823G>C	c.(4822-4824)cGt>cCt	p.R1608P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1608					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463																																																0			1											200.0	184.0	189.0					1																	158609712		1922	4121	6043	156876336	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4823G>C	1.37:g.158609712C>G	ENSP00000357129:p.Arg1608Pro		156876336	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen	p.R1608P	ENST00000368147.4	37	c.4823	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350975	0.82132	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36520	1.25;1.25	5.53	5.53	0.82687	.	0.000000	0.32134	N	0.006521	T	0.45316	0.1336	M	0.68952	2.095	0.41430	D	0.987856	D	0.71674	0.998	D	0.71656	0.974	T	0.48854	-0.8998	10	0.72032	D	0.01	.	8.2512	0.31724	0.0:0.8418:0.0:0.1582	.	1608	P02549	SPTA1_HUMAN	P	1608	ENSP00000357130:R1608P;ENSP00000357129:R1608P	ENSP00000357129:R1608P	R	-	2	0	SPTA1	156876336	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.475000	0.66787	2.882000	0.98803	0.655000	0.94253	CGT	-	HMMPfam_Spectrin		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	C	NM_003126		156876336	-1	no_errors	NM_003126	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ADAM19	8728	genome.wustl.edu	37	5	156946894	156946894	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr5:156946894C>T	ENST00000517905.1	-	6	597	c.553G>A	c.(553-555)Gac>Aac	p.D185N	ADAM19_ENST00000394020.1_Missense_Mutation_p.D187N|ADAM19_ENST00000257527.4_Missense_Mutation_p.D185N|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	185					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGCCCAGTCCCTGGTGGTG	0.562																																																0			5											110.0	116.0	114.0					5																	156946894		2203	4300	6503	156879472	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.553G>A	5.37:g.156946894C>T	ENSP00000428654:p.Asp185Asn		156879472	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2"	p.D185N	ENST00000517905.1	37	c.553		5	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773868	0.49786	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01725	4.68;4.71;4.67	5.67	4.8	0.61643	.	0.162092	0.43579	D	0.000542	T	0.02342	0.0072	L	0.52364	1.645	0.40931	D	0.984399	B	0.21147	0.052	B	0.18561	0.022	T	0.50866	-0.8777	10	0.16896	T	0.51	.	11.7035	0.51585	0.0:0.9176:0.0:0.0823	.	185	Q9H013-2	.	N	185;187;185	ENSP00000257527:D185N;ENSP00000377588:D187N;ENSP00000428654:D185N	ENSP00000257527:D185N	D	-	1	0	ADAM19	156879472	0.515000	0.26210	0.809000	0.32408	0.969000	0.65631	1.013000	0.29937	1.402000	0.46780	0.655000	0.94253	GAC	-	NULL		0.562	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	protein_coding	OTTHUMT00000373918.1	C	NM_033274		156879472	-1	no_errors	NM_033274	genbank	human	reviewed	54_36p	missense	SNP	0.945	T
TAGAP	117289	genome.wustl.edu	37	6	159461803	159461803	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr6:159461803C>A	ENST00000367066.3	-	7	870	c.539G>T	c.(538-540)gGt>gTt	p.G180V	TAGAP_ENST00000326965.6_Missense_Mutation_p.G2V|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.G180V|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	180	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCAGAGCACCCATCCACTC	0.532																																																0			6											162.0	146.0	151.0					6																	159461803		2203	4300	6503	159381791	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.539G>T	6.37:g.159461803C>A	ENSP00000356033:p.Gly180Val		159381791	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.G180V	ENST00000367066.3	37	c.539	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574975	0.28092	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000338313	T;T;T	0.18502	2.21;2.44;2.21	5.78	-0.723	0.11181	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.983537	0.08329	N	0.962668	T	0.03959	0.0111	L	0.39020	1.185	0.52501	D	0.999956	B;B	0.27192	0.013;0.171	B;B	0.24006	0.015;0.05	T	0.44034	-0.9354	10	0.40728	T	0.16	-11.7997	2.1443	0.03783	0.1083:0.2625:0.1923:0.4368	.	180;180	Q8N103-4;Q8N103	.;TAGAP_HUMAN	V	180;2;180	ENSP00000356033:G180V;ENSP00000322650:G2V;ENSP00000340217:G180V	ENSP00000322650:G2V	G	-	2	0	TAGAP	159381791	0.524000	0.26282	0.969000	0.41365	0.739000	0.42172	0.640000	0.24705	-0.134000	0.11516	0.563000	0.77884	GGT	-	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP		0.532	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159381791	-1	no_errors	NM_054114	genbank	human	reviewed	54_36p	missense	SNP	0.388	A
RGS16	6004	genome.wustl.edu	37	1	182569475	182569475	+	Silent	SNP	G	G	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:182569475G>A	ENST00000367558.5	-	5	709	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	187					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GAGTGGCAGAGGCGGCTGAGG	0.632																																																0			1											74.0	75.0	75.0					1																	182569475		2201	4296	6497	180836098	SO:0001819	synonymous_variant	6004			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.561C>T	1.37:g.182569475G>A			180836098	B2R4M4|Q5VYN9|Q99701	Silent	SNP	superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315	p.A187	ENST00000367558.5	37	c.561	CCDS1348.1	1																																																																																			-	superfamily_Regulator of G-protein signaling RGS		0.632	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS16	protein_coding	OTTHUMT00000085188.1	G	NM_002928		180836098	-1	no_errors	NM_002928	genbank	human	reviewed	54_36p	silent	SNP	0.011	A
COL5A2	1290	genome.wustl.edu	37	2	189921706	189921706	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:189921706C>T	ENST00000374866.3	-	35	2658	c.2384G>A	c.(2383-2385)gGt>gAt	p.G795D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	795					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACTCTTGCACCATCATTTCC	0.398																																																0			2											203.0	191.0	195.0					2																	189921706		2203	4300	6503	189629951	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2384G>A	2.37:g.189921706C>T	ENSP00000364000:p.Gly795Asp		189629951	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.G795D	ENST00000374866.3	37	c.2384	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314032	0.81358	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000059	D	0.99832	0.9924	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.985	D	0.96936	0.9684	9	.	.	.	.	20.2147	0.98293	0.0:1.0:0.0:0.0	.	435;795	Q5PR22;P05997	.;CO5A2_HUMAN	D	795;435	ENSP00000364000:G795D	.	G	-	2	0	COL5A2	189629951	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.797000	0.85911	2.785000	0.95823	0.591000	0.81541	GGT	-	HMMPfam_Collagen		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	C	NM_000393		189629951	-1	no_errors	NM_000393	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
AC010731.4	0	genome.wustl.edu	37	2	207509332	207509332	+	lincRNA	SNP	A	A	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:207509332A>C	ENST00000543490.1	+	0	547																											AGGAAGAGAAAATCTCAGCAG	0.488																																																0			2											53.0	55.0	55.0					2																	207509332		2048	4206	6254	207217577			200726																															2.37:g.207509332A>C			207217577		Missense_Mutation	SNP	NULL	p.K124N	ENST00000543490.1	37	c.372		2																																																																																			-	NULL		0.488	AC010731.4-201	KNOWN	basic	lincRNA	LOC200726	lincRNA		A			207217577	+1	no_errors	NM_001102659	genbank	human	predicted	54_36p	missense	SNP	0.631	C
PTH2R	5746	genome.wustl.edu	37	2	209358261	209358261	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:209358261C>A	ENST00000272847.2	+	13	1743	c.1530C>A	c.(1528-1530)caC>caA	p.H510Q	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	510					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ACTCTTTCCACGAGGAGACCA	0.522																																																0			2											83.0	76.0	78.0					2																	209358261		2203	4300	6503	209066506	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1530C>A	2.37:g.209358261C>A	ENSP00000272847:p.His510Gln		209066506	Q8N429	Missense_Mutation	SNP	superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.H510Q	ENST00000272847.2	37	c.1530	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.394543	0.01175	.	.	ENSG00000144407	ENST00000272847	T	0.49720	0.77	5.31	-10.6	0.00265	.	0.444949	0.16405	N	0.215850	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.44452	-0.9327	9	.	.	.	.	6.0706	0.19887	0.2156:0.464:0.211:0.1094	.	399;510	B4DFN8;P49190	.;PTH2R_HUMAN	Q	510	ENSP00000272847:H510Q	.	H	+	3	2	PTH2R	209066506	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.564000	0.00061	-6.152000	0.00006	-1.937000	0.00501	CAC	-	NULL		0.522	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	protein_coding	OTTHUMT00000256519.2	C	NM_005048		209066506	+1	no_errors	NM_005048	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
STK36	27148	genome.wustl.edu	37	2	219561857	219561857	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:219561857G>C	ENST00000295709.3	+	23	2961	c.2682G>C	c.(2680-2682)gaG>gaC	p.E894D	STK36_ENST00000440309.1_Missense_Mutation_p.E894D|STK36_ENST00000392105.3_Missense_Mutation_p.E873D|STK36_ENST00000392106.2_Missense_Mutation_p.E873D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCCCGAGGAGGCATCTGCAC	0.542																																																0			2											134.0	141.0	138.0					2																	219561857		2203	4300	6503	219270101	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2682G>C	2.37:g.219561857G>C	ENSP00000295709:p.Glu894Asp		219270101		Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM repeat,HMMPfam_HEAT	p.E894D	ENST00000295709.3	37	c.2682	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.332896|2.332896	0.41297|0.41297	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.71817|.	-0.59;-0.6;-0.6;-0.59|.	5.12|5.12	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.42821|.	D|.	0.000650|.	T|T	0.23133|0.23133	0.0559|0.0559	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;B|.	0.37955|.	0.612;0.477;0.346|.	B;B;B|.	0.36134|.	0.185;0.218;0.109|.	T|T	0.15578|0.15578	-1.0432|-1.0432	10|5	0.26408|.	T|.	0.33|.	-7.3731|-7.3731	4.2967|4.2967	0.10904|0.10904	0.2447:0.0:0.5913:0.164|0.2447:0.0:0.5913:0.164	.|.	873;873;894|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	D|T	894;873;873;894|87	ENSP00000295709:E894D;ENSP00000375955:E873D;ENSP00000375954:E873D;ENSP00000394095:E894D|.	ENSP00000295709:E894D|.	E|R	+|+	3|2	2|0	STK36|STK36	219270101|219270101	0.000000|0.000000	0.05858|0.05858	0.952000|0.952000	0.39060|0.39060	0.831000|0.831000	0.47069|0.47069	-0.579000|-0.579000	0.05834|0.05834	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	GAG|AGG	-	superfamily_ARM repeat		0.542	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	protein_coding	OTTHUMT00000256723.2	G			219270101	+1	no_errors	NM_015690	genbank	human	validated	54_36p	missense	SNP	0.150	C
SUSD4	55061	genome.wustl.edu	37	1	223402669	223402669	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:223402669C>A	ENST00000343846.3	-	5	1419	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SUSD4_ENST00000484758.2_Missense_Mutation_p.E193D|SUSD4_ENST00000454695.2_Missense_Mutation_p.E102D|SUSD4_ENST00000494793.2_Missense_Mutation_p.E262D|SUSD4_ENST00000366878.4_Missense_Mutation_p.E262D|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	262	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTTGTAGCGCTCACAAGGCC	0.527																																																0			1											79.0	88.0	85.0					1																	223402669		2120	4248	6368	221469292	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.786G>T	1.37:g.223402669C>A	ENSP00000344219:p.Glu262Asp		221469292	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.E262D	ENST00000343846.3	37	c.786	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530930	0.13127	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.64260	-0.09;-0.09;-0.09	5.61	-0.191	0.13252	Complement control module (2);Sushi/SCR/CCP (3);	0.426877	0.19943	N	0.102615	T	0.29976	0.0750	N	0.04297	-0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04229	-1.0967	10	0.13470	T	0.59	-14.5122	5.6069	0.17385	0.1681:0.5485:0.1634:0.1199	.	262	Q5VX71	SUSD4_HUMAN	D	262;262;193;102	ENSP00000344219:E262D;ENSP00000355843:E262D;ENSP00000399288:E102D	ENSP00000344219:E262D	E	-	3	2	SUSD4	221469292	0.969000	0.33509	0.980000	0.43619	0.958000	0.62258	-0.029000	0.12329	-0.150000	0.11195	-0.797000	0.03246	GAG	-	superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	protein_coding	OTTHUMT00000092592.2	C	NM_017982		221469292	-1	no_errors	NM_017982	genbank	human	validated	54_36p	missense	SNP	0.878	A
GIGYF2	26058	genome.wustl.edu	37	2	233655523	233655523	+	Silent	SNP	G	G	C	rs368592394		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr2:233655523G>C	ENST00000409547.1	+	12	1139	c.828G>C	c.(826-828)ggG>ggC	p.G276G	GIGYF2_ENST00000409451.3_Silent_p.G298G|GIGYF2_ENST00000452341.2_Silent_p.G107G|GIGYF2_ENST00000409196.3_Silent_p.G270G|GIGYF2_ENST00000373563.4_Silent_p.G276G|GIGYF2_ENST00000373566.3_Silent_p.G298G|GIGYF2_ENST00000409480.1_Silent_p.G298G	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	276					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGGCAGTGGGAGCATAGATG	0.493																																																0			2						G	,,,	0,4406		0,0,2203	162.0	162.0	162.0		828,894,810,828	-6.5	1.0	2		162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GIGYF2	NM_001103146.1,NM_001103147.1,NM_001103148.1,NM_015575.3	,,,	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	,,,	276/1300,298/1321,270/1294,276/1300	233655523	2,13004	2203	4300	6503	233363767	SO:0001819	synonymous_variant	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.828G>C	2.37:g.233655523G>C			233363767	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF	p.G298	ENST00000409547.1	37	c.894	CCDS33401.1	2																																																																																			-	NULL		0.493	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	protein_coding	OTTHUMT00000330316.2	G	NM_001103146		233363767	+1	no_errors	NM_001103147	genbank	human	validated	54_36p	silent	SNP	0.997	C
OTOA	146183	genome.wustl.edu	37	16	21734221	21734230	+	Splice_Site	DEL	TTCAGGTTAA	TTCAGGTTAA	-			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	TTCAGGTTAA	TTCAGGTTAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr16:21734221_21734230delTTCAGGTTAA	ENST00000286149.4	+	17	1849_1854	c.1848_1853delTTCAGGTTAA	c.(1846-1854)cattcaggt>cat	p.SG617fs	OTOA_ENST00000388956.4_Splice_Site_p.SG524fs|OTOA_ENST00000388957.3_Splice_Site_p.SG279fs|OTOA_ENST00000388958.3_Splice_Site_p.SG603fs			Q7RTW8	OTOAN_HUMAN	otoancorin	617					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGCTTAATCTTTCAGGTTAATTGTTTGGCG	0.443																																																0			16																																								21641731	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1849-1TTCAGGTTAA>-	16.37:g.21734221_21734230delTTCAGGTTAA			21641722	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	DEL	-	e17-1	ENST00000286149.4	37	c.1807-5_1807-1		16																																																																																			(deletion:intron[21638327,21641726], cds_exon[21641727,21641800])	-		0.443	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	TTCAGGTTAA		Frame_Shift_Del	21641731	+1	no_errors	NM_144672	genbank	human	provisional	54_36p	splice_site_del	DEL	0.994:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999	-
HECW1	23072	genome.wustl.edu	37	7	43485101	43485123	+	Frame_Shift_Del	DEL	GCGGGCACGTGGAAAGAAGCCCG	GCGGGCACGTGGAAAGAAGCCCG	-	rs200544206|rs373326288|rs548549863|rs377512268		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCGGGCACGTGGAAAGAAGCCCG	GCGGGCACGTGGAAAGAAGCCCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr7:43485101_43485123delGCGGGCACGTGGAAAGAAGCCCG	ENST00000395891.2	+	11	2935_2957	c.2330_2352delGCGGGCACGTGGAAAGAAGCCCG	c.(2329-2352)agcgggcacgtggaaagaagcccgfs	p.SGHVERSP777fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.SGHVERSP777fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	777					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCGCCCCTAGCGGGCACGTGGAAAGAAGCCCGGAAGGTCTGG	0.619																																																0			7																																								43451648	SO:0001589	frameshift_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2330_2352delGCGGGCACGTGGAAAGAAGCCCG	7.37:g.43485101_43485123delGCGGGCACGTGGAAAGAAGCCCG	ENSP00000379228:p.Ser777fs		43451626	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.S777fs	ENST00000395891.2	37	c.2330_2352	CCDS5469.2	7																																																																																			(deletion:cds_exon[43450342,43451694])	NULL		0.619	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	GCGGGCACGTGGAAAGAAGCCCG	NM_015052		43451648	+1	no_errors	NM_015052	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000:0.001:0.161:0.142:0.047:0.046:0.033:0.015:0.001:0.000:0.001:0.002:0.003:0.000:0.001:0.001:0.001:0.004:0.005:0.003:0.010:0.001:0.001	-
MAPK8IP2	23542	genome.wustl.edu	37	22	51041695	51041717	+	Frame_Shift_Del	DEL	GCTCCTTCCAGGATGACTTCCAG	GCTCCTTCCAGGATGACTTCCAG	-	rs561923174|rs537375229	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCTCCTTCCAGGATGACTTCCAG	GCTCCTTCCAGGATGACTTCCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr22:51041695_51041717delGCTCCTTCCAGGATGACTTCCAG	ENST00000329492.3	+	3	332_354	c.215_237delGCTCCTTCCAGGATGACTTCCAG	c.(214-237)tgctccttccaggatgacttccagfs	p.CSFQDDFQ72fs	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.CSFQDDFQ72fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.CSFQDDFQ72fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.CSFQDDFQ45fs|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	72					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACCCCATCTGCTCCTTCCAGGATGACTTCCAGGAGTTTGAGA	0.632																																																0			22																																								49388583	SO:0001589	frameshift_variant	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.215_237delGCTCCTTCCAGGATGACTTCCAG	22.37:g.51041695_51041717delGCTCCTTCCAGGATGACTTCCAG	ENSP00000330572:p.Cys72fs		49388561	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID	p.C72fs	ENST00000329492.3	37	c.215_237		22																																																																																			(deletion:cds_exon[49388518,49388793])	NULL		0.632	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	MAPK8IP2	protein_coding		GCTCCTTCCAGGATGACTTCCAG	NM_012324		49388583	+1	no_errors	ENST00000329492	ensembl	human	known	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
ZCCHC12	170261	genome.wustl.edu	37	X	117960206	117960250	+	In_Frame_Del	DEL	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	-	rs201023696|rs370321809		TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chrX:117960206_117960250delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	ENST00000310164.2	+	4	1506_1550	c.999_1043delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	c.(997-1044)ggggagatgcgtagagccaggaagcgaaaacacacaatccgctgttcg>ggg	p.EMRRARKRKHTIRCS334del		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	334					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R346L(1)|p.R346S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACGGTCCTGGGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTCGTATTGTGGT	0.506																																																2	Substitution - Missense(2)	lung(2)	X	GRCh37	CM085768	ZCCHC12	M																																				117844278	SO:0001651	inframe_deletion	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.999_1043delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	X.37:g.117960206_117960250delGGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	ENSP00000308921:p.Glu334_Ser348del		117844234	B3KV48|Q6PID5|Q8N1C1	In_Frame_Del	DEL	NULL	p.EMRRARKRKHTIRCS334in_frame_del	ENST00000310164.2	37	c.999_1043	CCDS14574.1	X																																																																																			(deletion:cds_exon[117843236,117844444])	NULL		0.506	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	protein_coding	OTTHUMT00000058014.1	GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC	NM_173798		117844278	+1	no_errors	NM_173798	genbank	human	provisional	54_36p	in_frame_del	DEL	0.000:0.000:0.002:0.001:0.003:0.253:0.536:0.602:0.666:0.718:0.777:0.794:0.790:0.764:0.774:0.917:0.958:0.970:0.979:0.980:0.975:0.958:0.937:0.863:0.549:0.523:0.429:0.112:0.011:0.008:0.005:0.005:0.007:0.005:0.006:0.011:0.011:0.015:0.030:0.047:0.064:0.068:0.058:0.059:0.051	-
BGLAP	632	genome.wustl.edu	37	1	156212358	156212358	+	Frame_Shift_Del	DEL	G	G	-	rs557201215|rs150202037	byFrequency	TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:156212358delG	ENST00000368272.4	+	2	349	c.79delG	c.(79-81)ggtfs	p.G27fs	PMF1_ENST00000565805.1_Frame_Shift_Del_p.R128fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.A193fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.R173fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.R173fs|PAQR6_ENST00000492619.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.R128fs	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	27					bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GAAGCCCAGCGGTGCAGAGTC	0.622													GG|GG|G|deletion	12	0.00239617	0.0091	0.0	5008	,	,		20875	0.0		0.0	False		,,,				2504	0.0															0			1							,,,,	22,4148		2,18,2065	87.0	90.0	89.0		,,,,	-7.0	0.0	1		85	2,7996		1,0,3998	no	frameshift,frameshift,frameshift,frameshift,frameshift	BGLAP,PMF1-BGLAP	NM_199173.4,NM_001199664.1,NM_001199663.1,NM_001199662.1,NM_001199661.1	,,,,	3,18,6063	A1A1,A1R,RR		0.025,0.5276,0.1972	,,,,	,,,,	156212358	24,12144	2155	4196	6351	154478982	SO:0001589	frameshift_variant	632			X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819	ENST00000368272.4:c.79delG	1.37:g.156212358delG	ENSP00000357255:p.Gly27fs		154478982	Q5TCK6	Frame_Shift_Del	DEL	HMMSmart_SM00069,HMMPfam_Gla,superfamily_GLA-domain,PatternScan_GLA_1	p.G27fs	ENST00000368272.4	37	c.79	CCDS1134.1	1																																																																																			(deletion:cds_exon[154478968,154479006])	NULL		0.622	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGLAP	protein_coding	OTTHUMT00000040867.2	G	NM_199173		154478982	+1	no_errors	NM_199173	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000	-
ATP2B4	493	genome.wustl.edu	37	1	203689687	203689697	+	Frame_Shift_Del	DEL	GCACAGATGTA	GCACAGATGTA	-			TCGA-29-1763-01A-02W-0633-09	TCGA-29-1763-10A-01W-0633-09	GCACAGATGTA	GCACAGATGTA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	81332463-a84e-4215-a4f4-c4e974a6f7bb	8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57	g.chr1:203689687_203689697delGCACAGATGTA	ENST00000357681.5	+	16	3540_3550	c.2417_2427delGCACAGATGTA	c.(2416-2427)ggcacagatgtafs	p.GTDV806fs	ATP2B4_ENST00000341360.2_Frame_Shift_Del_p.GTDV806fs|ATP2B4_ENST00000367218.3_Frame_Shift_Del_p.GTDV806fs|ATP2B4_ENST00000367219.3_Frame_Shift_Del_p.GTDV794fs|ATP2B4_ENST00000391954.2_Frame_Shift_Del_p.GTDV806fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	806					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCATCGCAGGCACAGATGTAGCAAAGGAGG	0.502																																																0			1																																								201956320	SO:0001589	frameshift_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2417_2427delGCACAGATGTA	1.37:g.203689687_203689697delGCACAGATGTA	ENSP00000350310:p.Gly806fs		201956310	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Del	DEL	HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C	p.T807fs	ENST00000357681.5	37	c.2417_2427	CCDS1440.1	1																																																																																			(deletion:cds_exon[201956300,201956491])	superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	GCACAGATGTA	NM_001001396		201956320	+1	no_errors	NM_001684	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.620	-
