#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
PROKR2	128674	genome.wustl.edu	37	20	5282804	5282804	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr20:5282804T>A	ENST00000217270.3	-	2	1036	c.1037A>T	c.(1036-1038)aAg>aTg	p.K346M	PROKR2_ENST00000546004.1_Missense_Mutation_p.K346M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	346					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGCATCATCTTCTTGAAGTA	0.562										HNSCC(71;0.22)																																						0			20											243.0	194.0	211.0					20																	5282804		2203	4300	6503	5230804	SO:0001583	missense	128674			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1037A>T	20.37:g.5282804T>A	ENSP00000217270:p.Lys346Met		5230804	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.K346M	ENST00000217270.3	37	c.1037	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544369	0.45280	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.43294	0.95;0.95	5.05	1.5	0.22942	.	0.147726	0.64402	D	0.000011	T	0.39384	0.1076	M	0.70595	2.14	0.50171	D	0.999856	P	0.42692	0.787	B	0.39971	0.315	T	0.21177	-1.0253	10	0.66056	D	0.02	.	7.8306	0.29340	0.0:0.257:0.0:0.743	.	346	Q8NFJ6	PKR2_HUMAN	M	346	ENSP00000440790:K346M;ENSP00000217270:K346M	ENSP00000217270:K346M	K	-	2	0	PROKR2	5230804	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.888000	0.39708	-0.004000	0.14419	0.533000	0.62120	AAG	-	superfamily_SSF81321		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	protein_coding	OTTHUMT00000077854.1	T	NM_144773		5230804	-1	no_errors	NM_144773	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PPP2R2C	5522	genome.wustl.edu	37	4	6377561	6377561	+	Silent	SNP	C	C	T	rs144455156		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:6377561C>T	ENST00000382599.4	-	4	648	c.432G>A	c.(430-432)acG>acA	p.T144T	PPP2R2C_ENST00000335585.5_Silent_p.T144T|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Silent_p.T137T|PPP2R2C_ENST00000515571.1_Silent_p.T127T|PPP2R2C_ENST00000506140.1_Silent_p.T137T			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	144					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGACGTCACCGTGGACAGGT	0.473																																																0			4						C	,,,	0,4406		0,0,2203	157.0	147.0	150.0		411,411,381,432	-8.2	0.6	4	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	137/441,137/441,127/431,144/448	6377561	1,13005	2203	4300	6503	6428462	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.432G>A	4.37:g.6377561C>T			6428462	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2	p.T144	ENST00000382599.4	37	c.432		4																																																																																			-	superfamily_WD40 repeat-like		0.473	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	protein_coding	OTTHUMT00000206889.2	C	NM_181876		6428462	-1	no_errors	NM_020416	genbank	human	reviewed	54_36p	silent	SNP	0.919	T
CAMTA1	23261	genome.wustl.edu	37	1	7151369	7151369	+	Silent	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:7151369T>C	ENST00000303635.7	+	4	447	c.240T>C	c.(238-240)atT>atC	p.I80I	CAMTA1_ENST00000439411.2_Silent_p.I80I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCAGGAAATTGCAGCTTATT	0.373			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											102.0	97.0	99.0					1																	7151369		2203	4300	6503	7073956	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.240T>C	1.37:g.7151369T>C			7073956	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ	p.I80	ENST00000303635.7	37	c.240	CCDS30576.1	1																																																																																			-	HMMPfam_CG-1		0.373	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	T	NM_015215		7073956	+1	no_errors	NM_015215	genbank	human	validated	54_36p	silent	SNP	1.000	C
VCX3B	425054	genome.wustl.edu	37	X	8434367	8434367	+	Silent	SNP	C	C	T	rs139169782		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chrX:8434367C>T	ENST00000381032.1	+	3	991	c.684C>T	c.(682-684)agC>agT	p.S228S	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Silent_p.S196S|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000444481.1_Silent_p.S198S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	228	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GTCAGGAGAGCGAGATGGAAG	0.557													-|||	923	0.244503	0.0968	0.147	3775	,	,		6423	0.2887		0.1173	False		,,,				2504	0.2904															0			X						C		600,2579		158,223,61,977,402	108.0	222.0	187.0		684	-0.6	0.0	X	dbSNP_134	187	808,5694		89,402,228,1896,1500	no	coding-synonymous	VCX3B	NM_001001888.3		247,625,289,2873,1902	TT,TC,T,CC,C		12.4269,18.8739,14.544		228/247	8434367	1408,8273	1821	4115	5936	8394367	SO:0001819	synonymous_variant	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.684C>T	X.37:g.8434367C>T			8394367	C9JS46|Q4KN12	Silent	SNP	NULL	p.S198	ENST00000381032.1	37	c.594	CCDS48077.2	X																																																																																			-	NULL		0.557	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	protein_coding	OTTHUMT00000055691.1	C			8394367	+1	no_errors	NM_001001888	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
DNAH9	1770	genome.wustl.edu	37	17	11835360	11835360	+	Silent	SNP	G	G	A	rs374717515		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:11835360G>A	ENST00000262442.4	+	64	12203	c.12135G>A	c.(12133-12135)acG>acA	p.T4045T	DNAH9_ENST00000608377.1_Silent_p.T357T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.T3969T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCGGGAGACGGAGTTTAAGA	0.493																																																0			17						G	,	0,4406		0,0,2203	342.0	317.0	325.0		12135,1071	-9.9	0.0	17		325	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAH9	NM_001372.3,NM_004662.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4045/4487,357/799	11835360	1,13005	2203	4300	6503	11776085	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12135G>A	17.37:g.11835360G>A			11776085	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.T4045	ENST00000262442.4	37	c.12135	CCDS11160.1	17																																																																																			-	HMMPfam_Dynein_heavy		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11776085	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	silent	SNP	0.780	A
REPS2	9185	genome.wustl.edu	37	X	17088087	17088087	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chrX:17088087C>A	ENST00000357277.3	+	11	1475	c.1304C>A	c.(1303-1305)gCc>gAc	p.A435D	REPS2_ENST00000303843.7_Missense_Mutation_p.A434D|REPS2_ENST00000380064.4_Missense_Mutation_p.A295D	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	435					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					ATCAATGAAGCCTTACCAAAG	0.274																																																0			X											33.0	31.0	32.0					X																	17088087		2203	4294	6497	16998008	SO:0001583	missense	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1304C>A	X.37:g.17088087C>A	ENSP00000349824:p.Ala435Asp		16998008	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1	p.A435D	ENST00000357277.3	37	c.1304	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196177	0.22037	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.32988	1.43;1.43;1.49	5.35	3.61	0.41365	.	0.376195	0.25780	N	0.028346	T	0.24967	0.0606	L	0.51422	1.61	0.34154	D	0.667843	B;B;B	0.32245	0.047;0.355;0.361	B;B;B	0.33521	0.022;0.165;0.08	T	0.27400	-1.0075	10	0.22109	T	0.4	-1.7737	7.108	0.25374	0.0:0.797:0.0:0.203	.	295;434;435	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	D	435;435;434;295	ENSP00000349824:A435D;ENSP00000306033:A434D;ENSP00000369404:A295D	ENSP00000306033:A434D	A	+	2	0	REPS2	16998008	0.992000	0.36948	0.555000	0.28281	0.348000	0.29142	0.248000	0.18198	0.643000	0.30638	0.600000	0.82982	GCC	-	NULL		0.274	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	protein_coding	OTTHUMT00000316778.1	C	NM_004726		16998008	+1	no_errors	NM_004726	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
FEM1AP4	729524	genome.wustl.edu	37	13	19240500	19240500	+	IGR	SNP	G	G	A	rs541070844		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr13:19240500G>A								LINC00388 (54685 upstream) : LINC00387 (6466 downstream)																							ATCCGGGAGCGCATCCTCAGT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14482	0.0		0.001	False		,,,				2504	0.0															0			13																																								18138500	SO:0001628	intergenic_variant	729524																															13.37:g.19240500G>A			18138500		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.597					LOC729524			G			18138500	+1	pseudogene	XR_015575	genbank	human	model	54_36p	rna	SNP	1.000	A
SATB1	6304	genome.wustl.edu	37	3	18391169	18391169	+	Silent	SNP	C	C	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:18391169C>T	ENST00000338745.6	-	11	3519	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	SATB1_ENST00000454909.2_Silent_p.Q595Q|SATB1_ENST00000417717.2_Silent_p.Q627Q|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	595	Poly-Gln.				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						gttgctgctgctgttgctgcA	0.587																																																0			3											9.0	10.0	9.0					3																	18391169		2164	4251	6415	18366173	SO:0001819	synonymous_variant	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.1785G>A	3.37:g.18391169C>T			18366173	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox	p.Q595	ENST00000338745.6	37	c.1785	CCDS2631.1	3																																																																																			-	NULL		0.587	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	C	NM_001131010		18366173	-1	no_errors	NM_002971	genbank	human	validated	54_36p	silent	SNP	0.918	T
PIK3C2G	5288	genome.wustl.edu	37	12	18499756	18499756	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:18499756A>C	ENST00000266497.5	+	10	1649	c.1611A>C	c.(1609-1611)gaA>gaC	p.E537D	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E537D|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E537D|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E537D			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	537	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACATTCCAGAAACCTGGGTGC	0.423																																																0			12											49.0	46.0	47.0					12																	18499756		1921	4124	6045	18391023	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1611A>C	12.37:g.18499756A>C	ENSP00000266497:p.Glu537Asp		18391023	A1L3U0	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2	p.E537D	ENST00000266497.5	37	c.1611	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845403	0.32606	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.76709	1.45;-1.04;-1.04;-0.41	4.25	-1.08	0.09936	Phosphoinositide 3-kinase, C2 (2);	11.940400	0.00166	N	0.000000	D	0.84192	0.5418	M	0.67953	2.075	0.23016	N	0.998428	D;D;D	0.69078	0.995;0.997;0.997	P;D;D	0.66602	0.813;0.909;0.945	T	0.68168	-0.5480	10	0.13470	T	0.59	-18.3114	9.0527	0.36385	0.6487:0.0:0.3513:0.0	.	536;537;537	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	D	537	ENSP00000443850:E537D;ENSP00000404845:E537D;ENSP00000266497:E537D;ENSP00000445381:E537D	ENSP00000266497:E537D	E	+	3	2	PIK3C2G	18391023	0.804000	0.28969	0.104000	0.21259	0.711000	0.40976	0.829000	0.27449	-0.201000	0.10284	-0.375000	0.07067	GAA	-	HMMPfam_PI3K_C2		0.423	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	A	NM_004570		18391023	+1	no_errors	ENST00000266497	ensembl	human	known	54_36p	missense	SNP	0.687	C
RIMBP3	85376	genome.wustl.edu	37	22	20458524	20458524	+	Silent	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr22:20458524C>A	ENST00000426804.1	-	1	3262	c.2778G>T	c.(2776-2778)ctG>ctT	p.L926L	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	926										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGTCTTCCTCCAGAGCTTCAT	0.582																																																0			22											47.0	55.0	52.0					22																	20458524		1932	4148	6080	18838524	SO:0001819	synonymous_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2778G>T	22.37:g.20458524C>A			18838524	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III	p.L926	ENST00000426804.1	37	c.2778	CCDS46665.1	22																																																																																			-	NULL		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	protein_coding	OTTHUMT00000318945.2	C	NM_015672		18838524	-1	no_errors	NM_015672	genbank	human	validated	54_36p	silent	SNP	0.000	A
TAS1R2	80834	genome.wustl.edu	37	1	19181469	19181469	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:19181469G>A	ENST00000375371.3	-	3	516	c.495C>T	c.(493-495)agC>agT	p.S165S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	165					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCTGATGGCGCTGTAGGTGA	0.637																																																0			1											40.0	40.0	40.0					1																	19181469		2198	4297	6495	19054056	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.495C>T	1.37:g.19181469G>A			19054056	Q5TZ19	Silent	SNP	PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3	p.S165	ENST00000375371.3	37	c.495	CCDS187.1	1																																																																																			-	superfamily_SSF53822,HMMPfam_ANF_receptor		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	G			19054056	-1	no_errors	NM_152232	genbank	human	validated	54_36p	silent	SNP	0.958	A
KRT18P40	390904	genome.wustl.edu	37	19	21144173	21144173	+	IGR	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr19:21144173A>T								ZNF85 (10670 upstream) : CTD-2542C24.8 (10894 downstream)																							CTGGCCTCCTACCTGGACAGA	0.587																																																0			19																																								20936013	SO:0001628	intergenic_variant	390904																															19.37:g.21144173A>T			20936013		RNA	SNP	-	NULL		37	NULL		19																																																																																			-	-	0	0.587					KRT18P40			A			20936013	+1	pseudogene	XR_017288	genbank	human	model	54_36p	rna	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	1	23571413	23571413	+	IGR	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:23571413G>T								HTR1D (50191 upstream) : RP5-1057J7.6 (36388 downstream)																							CAACAAGAAGGTCCTAAAGAA	0.537																																																0			1																																								23444000	SO:0001628	intergenic_variant	391019																															1.37:g.23571413G>T			23444000		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.537					LOC391019			G			23444000	+1	pseudogene	XR_017506	genbank	human	model	54_36p	rna	SNP	0.985	T
ADAM7	8756	genome.wustl.edu	37	8	24346732	24346732	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:24346732T>G	ENST00000175238.6	+	12	1235	c.1152T>G	c.(1150-1152)gaT>gaG	p.D384E	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384E|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156E	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTTGAAGGATTATAAGCCAA	0.358																																																0			8											157.0	134.0	142.0					8																	24346732		2203	4300	6503	24402622	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1152T>G	8.37:g.24346732T>G	ENSP00000175238:p.Asp384Glu		24402622	A8K8X7|O75959|Q6PEJ6	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"	p.D384E	ENST00000175238.6	37	c.1152	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753308	0.49362	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.61980	0.06;0.06;0.06	5.74	-2.49	0.06403	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.215318	0.32343	N	0.006233	T	0.52092	0.1713	L	0.31207	0.915	0.09310	N	1	P;D	0.56746	0.939;0.977	P;P	0.57283	0.575;0.817	T	0.55585	-0.8118	10	0.10636	T	0.68	.	7.5594	0.27843	0.0:0.4447:0.1342:0.421	.	156;384	E5RK87;Q9H2U9	.;ADAM7_HUMAN	E	384;384;156;199	ENSP00000175238:D384E;ENSP00000370166:D384E;ENSP00000430400:D156E	ENSP00000175238:D384E	D	+	3	2	ADAM7	24402622	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.693000	0.05121	-0.702000	0.05056	-0.250000	0.11733	GAT	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	protein_coding	OTTHUMT00000215150.1	T	NM_003817		24402622	+1	no_errors	NM_003817	genbank	human	validated	54_36p	missense	SNP	0.006	G
CAD	790	genome.wustl.edu	37	2	27448706	27448706	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:27448706C>G	ENST00000403525.1	+	12	1898	c.1754C>G	c.(1753-1755)aCc>aGc	p.T585S	CAD_ENST00000264705.4_Missense_Mutation_p.T585S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.T585S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGCCCATACCAGCCAAGTG	0.572																																																1	Substitution - Missense(1)	endometrium(1)	2											113.0	106.0	108.0					2																	27448706		2203	4300	6503	27302210	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1754C>G	2.37:g.27448706C>G	ENSP00000384510:p.Thr585Ser		27302210	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	superfamily_CP_synthsmall,HMMPfam_CPSase_sm_chain,superfamily_SSF52317,HMMPfam_GATase,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_chain,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_D3,superfamily_SSF52335,HMMPfam_MGS,HMMPfam_Amidohydro_1,superfamily_SSF51556,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,superfamily_Metalo_hydrolase,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_OTCace	p.T585S	ENST00000403525.1	37	c.1754		2	.	.	.	.	.	.	.	.	.	.	C	7.662	0.685073	0.14973	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96396	-4.0;-4.0	5.65	5.65	0.86999	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.045477	0.85682	N	0.000000	D	0.83931	0.5361	N	0.00289	-1.7	0.49915	D	0.999838	B;B	0.18968	0.032;0.002	B;B	0.21360	0.034;0.017	T	0.83243	-0.0057	10	0.02654	T	1	-0.3458	18.3447	0.90317	0.0:1.0:0.0:0.0	.	585;585	F8VPD4;P27708	.;PYR1_HUMAN	S	585	ENSP00000264705:T585S;ENSP00000384510:T585S	ENSP00000264705:T585S	T	+	2	0	CAD	27302210	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.741000	0.68638	2.683000	0.91414	0.456000	0.33151	ACC	-	HMMPfam_CPSase_L_D2,superfamily_SSF56059		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	C			27302210	+1	no_errors	NM_004341	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
OR2B3	442184	genome.wustl.edu	37	6	29054904	29054904	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:29054904C>A	ENST00000377173.2	-	1	186	c.122G>T	c.(121-123)gGc>gTc	p.G41V		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGACACATTGCCAAATATGGT	0.408																																																0			6											142.0	132.0	135.0					6																	29054904		2203	4300	6503	29162883	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.122G>T	6.37:g.29054904C>A	ENSP00000366378:p.Gly41Val		29162883	B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G41V	ENST00000377173.2	37	c.122	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898253	0.33535	.	.	ENSG00000204703	ENST00000377173	T	0.04406	3.63	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000923	T	0.21062	0.0507	H	0.98027	4.13	0.33800	D	0.626531	D	0.71674	0.998	D	0.67548	0.952	T	0.40175	-0.9577	10	0.87932	D	0	.	9.4102	0.38487	0.0:0.8975:0.0:0.1025	.	41	O76000	OR2B3_HUMAN	V	41	ENSP00000366378:G41V	ENSP00000366378:G41V	G	-	2	0	OR2B3	29162883	0.000000	0.05858	0.692000	0.30179	0.631000	0.37964	-0.230000	0.09083	1.696000	0.51158	0.579000	0.79373	GGC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	protein_coding	OTTHUMT00000076469.2	C			29162883	-1	no_errors	NM_001005226	genbank	human	validated	54_36p	missense	SNP	0.440	A
SETD1A	9739	genome.wustl.edu	37	16	30982881	30982881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr16:30982881G>T	ENST00000262519.8	+	13	3885	c.3199G>T	c.(3199-3201)Gaa>Taa	p.E1067*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1067					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGATGAAGAGGAAGAGGAGCG	0.632																																																0			16											32.0	36.0	35.0					16																	30982881		2197	4300	6497	30890382	SO:0001587	stop_gained	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3199G>T	16.37:g.30982881G>T	ENSP00000262519:p.Glu1067*		30890382	A6NP62|Q6PIF3|Q8TAJ6	Nonsense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET	p.E1067*	ENST00000262519.8	37	c.3199	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	G	47	13.757935	0.99761	.	.	ENSG00000099381	ENST00000262519	.	.	.	5.81	5.81	0.92471	.	0.358981	0.28946	N	0.013621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	.	.	.	X	1067	.	ENSP00000262519:E1067X	E	+	1	0	SETD1A	30890382	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.087000	0.71362	2.752000	0.94435	0.467000	0.42956	GAA	-	NULL		0.632	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	G	NM_014712		30890382	+1	no_errors	NM_014712	genbank	human	provisional	54_36p	nonsense	SNP	1.000	T
NRG1	3084	genome.wustl.edu	37	8	32621801	32621801	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:32621801A>T	ENST00000405005.3	+	12	1804	c.1804A>T	c.(1804-1806)Aca>Tca	p.T602S	RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Missense_Mutation_p.T445S|NRG1_ENST00000519301.1_Missense_Mutation_p.T552S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.T607S|NRG1_ENST00000338921.4_Missense_Mutation_p.T610S|NRG1_ENST00000287842.3_Missense_Mutation_p.T599S|NRG1_ENST00000287845.5_Missense_Mutation_p.T573S			Q02297	NRG1_HUMAN	neuregulin 1	602					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTTGAGGCAACACCTGCCTT	0.537																																																0			8											53.0	59.0	57.0					8																	32621801		2203	4300	6503	32741343	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1804A>T	8.37:g.32621801A>T	ENSP00000384620:p.Thr602Ser		32741343	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,HMMPfam_Neuregulin	p.T607S	ENST00000405005.3	37	c.1819	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	6.156	0.397067	0.11638	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.95	2.86	0.33363	Neuregulin 1-related, C-terminal (1);	0.504438	0.21982	N	0.066299	T	0.19604	0.0471	N	0.01874	-0.695	0.09310	N	0.999992	B;B;B;B;B;B;B	0.16166	0.001;0.008;0.01;0.0;0.008;0.016;0.008	B;B;B;B;B;B;B	0.23275	0.001;0.02;0.045;0.0;0.02;0.034;0.026	T	0.25606	-1.0127	9	.	.	.	-9.3965	9.4706	0.38839	0.2573:0.0:0.7427:0.0	.	445;573;607;610;599;602;607	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	S	552;675;610;607;602;573;599;602;445	ENSP00000429582:T552S;ENSP00000429067:T675S;ENSP00000343395:T610S;ENSP00000349275:T607S;ENSP00000287840:T602S;ENSP00000287845:T573S;ENSP00000287842:T599S;ENSP00000384620:T602S;ENSP00000439276:T445S	.	T	+	1	0	NRG1	32741343	0.918000	0.31147	0.629000	0.29254	0.988000	0.76386	1.819000	0.39022	0.266000	0.21894	-0.468000	0.05107	ACA	-	HMMPfam_Neuregulin		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	A			32741343	+1	no_errors	NM_013956	genbank	human	reviewed	54_36p	missense	SNP	0.116	T
DEPDC7	91614	genome.wustl.edu	37	11	33050193	33050193	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:33050193C>G	ENST00000241051.3	+	4	729	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	DEPDC7_ENST00000311388.3_Missense_Mutation_p.Q204E	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	213					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GCGTCTACTACAACTTGTAGA	0.398																																																0			11											96.0	89.0	91.0					11																	33050193		1882	4117	5999	33006769	SO:0001583	missense	91614				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.637C>G	11.37:g.33050193C>G	ENSP00000241051:p.Gln213Glu		33006769	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	"superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049"	p.Q213E	ENST00000241051.3	37	c.637	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144258	0.57044	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.15718	2.4;2.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.70716	0.94;0.97	T	0.37502	-0.9703	10	0.59425	D	0.04	-6.7174	20.6593	0.99626	0.0:1.0:0.0:0.0	.	204;213	G5E941;Q96QD5	.;DEPD7_HUMAN	E	213;204	ENSP00000241051:Q213E;ENSP00000308971:Q204E	ENSP00000241051:Q213E	Q	+	1	0	DEPDC7	33006769	1.000000	0.71417	0.646000	0.29493	0.078000	0.17371	7.103000	0.77014	2.885000	0.99019	0.655000	0.94253	CAA	-	NULL		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	protein_coding	OTTHUMT00000388655.1	C	NM_139160		33006769	+1	no_errors	NM_001077242	genbank	human	validated	54_36p	missense	SNP	1.000	G
TCP11L1	55346	genome.wustl.edu	37	11	33094196	33094196	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:33094196C>A	ENST00000334274.4	+	10	1904	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	TCP11L1_ENST00000324357.9_Missense_Mutation_p.L281M|TCP11L1_ENST00000531632.2_Missense_Mutation_p.L502M|TCP11L1_ENST00000432887.1_Missense_Mutation_p.L502M	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	502						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CGATGCAATCCTGAGTAAGAT	0.453																																																0			11											190.0	169.0	176.0					11																	33094196		2202	4298	6500	33050772	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1504C>A	11.37:g.33094196C>A	ENSP00000335595:p.Leu502Met		33050772	D3DR01|Q8IVX4	Missense_Mutation	SNP	HMMPfam_Tcp11	p.L502M	ENST00000334274.4	37	c.1504	CCDS7882.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.471245|3.471245	0.63625|0.63625	.|.	.|.	ENSG00000176148|ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357|ENST00000528962	T;T;T;T|.	0.16597|.	2.33;2.33;2.33;2.33|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83128|0.83128	0.5187|0.5187	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.84365|0.84365	0.0540|0.0540	10|5	0.59425|.	D|.	0.04|.	-15.7276|-15.7276	19.3923|19.3923	0.94587|0.94587	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502|.	Q9NUJ3|.	T11L1_HUMAN|.	M|H	502;502;502;281|117	ENSP00000335595:L502M;ENSP00000433067:L502M;ENSP00000395070:L502M;ENSP00000316279:L281M|.	ENSP00000316279:L281M|.	L|P	+|+	1|2	2|0	TCP11L1|TCP11L1	33050772|33050772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.535000|0.535000	0.34838|0.34838	4.493000|4.493000	0.60341|0.60341	2.582000|2.582000	0.87167|0.87167	0.313000|0.313000	0.20887|0.20887	CTG|CCT	-	HMMPfam_Tcp11		0.453	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L1	protein_coding	OTTHUMT00000383377.4	C	NM_018393		33050772	+1	no_errors	NM_018393	genbank	human	validated	54_36p	missense	SNP	1.000	A
EPHA10	284656	genome.wustl.edu	37	1	38227466	38227466	+	Missense_Mutation	SNP	G	G	T	rs370728811		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:38227466G>T	ENST00000373048.4	-	3	460	c.461C>A	c.(460-462)aCg>aAg	p.T154K	EPHA10_ENST00000319637.6_Missense_Mutation_p.T154K|EPHA10_ENST00000427468.2_Missense_Mutation_p.T154K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	154	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCCGCGATCGTGTCGATTTT	0.662																																																0			1											28.0	34.0	32.0					1																	38227466		2197	4298	6495	38000053	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.461C>A	1.37:g.38227466G>T	ENSP00000362139:p.Thr154Lys		38000053	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.T154K	ENST00000373048.4	37	c.461	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041798	0.93685	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.05382	3.45;3.45;3.45	4.75	4.75	0.60458	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.42964	D	0.000631	T	0.32763	0.0840	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.32561	-0.9902	10	0.87932	D	0	.	17.2504	0.87041	0.0:0.0:1.0:0.0	.	154;154	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	154	ENSP00000397746:T154K;ENSP00000362139:T154K;ENSP00000316395:T154K	ENSP00000316395:T154K	T	-	2	0	EPHA10	38000053	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	9.511000	0.98006	2.598000	0.87819	0.643000	0.83706	ACG	-	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	protein_coding	OTTHUMT00000012497.2	G	NM_173641		38000053	-1	no_errors	NM_001099439	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF106	64397	genome.wustl.edu	37	15	42737062	42737062	+	Missense_Mutation	SNP	T	T	G	rs144125806		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr15:42737062T>G	ENST00000263805.4	-	5	3580	c.3254A>C	c.(3253-3255)tAt>tCt	p.Y1085S	ZNF106_ENST00000565380.1_Missense_Mutation_p.Y313S|ZNF106_ENST00000565611.1_Missense_Mutation_p.Y270S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1085					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACTTCCACATAAGCTGTCTG	0.433																																																0			15											127.0	118.0	121.0					15																	42737062		2203	4299	6502	40524354	SO:0001583	missense	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3254A>C	15.37:g.42737062T>G	ENSP00000263805:p.Tyr1085Ser		40524354	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Y1085S	ENST00000263805.4	37	c.3254	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232347	0.79688	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	D	0.82167	-1.58	5.12	3.92	0.45320	.	0.068023	0.64402	D	0.000009	D	0.88171	0.6365	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;P;D	0.85130	0.997;0.881;0.991	D	0.88962	0.3394	10	0.87932	D	0	-16.3766	11.7327	0.51746	0.1318:0.0:0.0:0.8682	.	313;1085;313	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	S	1085;313	ENSP00000263805:Y1085S	ENSP00000263805:Y1085S	Y	-	2	0	ZFP106	40524354	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.610000	0.61155	2.055000	0.61198	0.528000	0.53228	TAT	-	NULL		0.433	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	protein_coding	OTTHUMT00000422587.1	T	NM_022473		40524354	-1	no_errors	NM_022473	genbank	human	provisional	54_36p	missense	SNP	1.000	G
ENOX1	55068	genome.wustl.edu	37	13	43788228	43788228	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr13:43788228C>A	ENST00000261488.6	-	17	2407	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	ENOX1_ENST00000412891.1_Missense_Mutation_p.L610F	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	610					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCAGCCTCATCAAAAGCATTT	0.433																																																0			13											95.0	91.0	92.0					13																	43788228		2203	4300	6503	42686228	SO:0001583	missense	55068			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1830G>T	13.37:g.43788228C>A	ENSP00000261488:p.Leu610Phe		42686228	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.L610F	ENST00000261488.6	37	c.1830	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	.	19.47	3.833418	0.71258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.59772	0.24;0.24	6.16	6.16	0.99307	.	0.065353	0.64402	D	0.000010	T	0.64091	0.2567	L	0.55481	1.735	0.80722	D	1	D	0.54207	0.965	P	0.51016	0.656	T	0.63703	-0.6577	10	0.52906	T	0.07	-16.633	15.9288	0.79644	0.0:0.9342:0.0:0.0658	.	610	Q8TC92	ENOX1_HUMAN	F	610	ENSP00000261488:L610F;ENSP00000415054:L610F	ENSP00000261488:L610F	L	-	3	2	ENOX1	42686228	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.127000	0.64727	2.937000	0.99478	0.650000	0.86243	TTG	-	NULL		0.433	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	protein_coding	OTTHUMT00000044717.2	C	NM_017993		42686228	-1	no_errors	NM_017993	genbank	human	validated	54_36p	missense	SNP	1.000	A
CDCP1	64866	genome.wustl.edu	37	3	45127350	45127350	+	Missense_Mutation	SNP	G	G	T	rs570761435		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:45127350G>T	ENST00000296129.1	-	9	2425	c.2291C>A	c.(2290-2292)cCg>cAg	p.P764Q		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	764						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCCTGGAACGGCCGGTAGGT	0.612																																																0			3											94.0	91.0	92.0					3																	45127350		2203	4300	6503	45102354	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2291C>A	3.37:g.45127350G>T	ENSP00000296129:p.Pro764Gln		45102354	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain	p.P764Q	ENST00000296129.1	37	c.2291	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743656	0.69418	.	.	ENSG00000163814	ENST00000296129	T	0.33654	1.4	5.67	4.79	0.61399	.	0.106393	0.64402	D	0.000005	T	0.60586	0.2280	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65286	-0.6205	10	0.62326	D	0.03	.	16.7578	0.85504	0.0:0.1291:0.8709:0.0	.	764	Q9H5V8	CDCP1_HUMAN	Q	764	ENSP00000296129:P764Q	ENSP00000296129:P764Q	P	-	2	0	CDCP1	45102354	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.228000	0.78079	1.392000	0.46585	0.563000	0.77884	CCG	-	NULL		0.612	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	protein_coding	OTTHUMT00000256748.3	G	NM_022842		45102354	-1	no_errors	NM_022842	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FBXO11	80204	genome.wustl.edu	37	2	48061973	48061973	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:48061973T>C	ENST00000403359.3	-	6	827	c.755A>G	c.(754-756)cAt>cGt	p.H252R	FBXO11_ENST00000316377.4_Missense_Mutation_p.H168R|FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000402508.1_Missense_Mutation_p.H168R|FBXO11_ENST00000480038.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	252					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTAGAAATGTTCAGCAAA	0.279			"""Mis, F, D"""		DLBCL																																		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											104.0	104.0	104.0					2																	48061973		2203	4295	6498	47915477	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.755A>G	2.37:g.48061973T>C	ENSP00000384823:p.His252Arg		47915477	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_Pectin_lyas_like,HMMSmart_PbH1,HMMSmart_CASH,HMMPfam_zf-UBR	p.H168R	ENST00000403359.3	37	c.503	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	T	9.228	1.035017	0.19590	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.42900	0.99;0.96;0.99	5.89	5.89	0.94794	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	N	0.14661	0.345	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.10245	-1.0638	10	0.08179	T	0.78	-6.6549	16.3071	0.82852	0.0:0.0:0.0:1.0	.	252	Q86XK2	FBX11_HUMAN	R	168;252;168	ENSP00000385398:H168R;ENSP00000384823:H252R;ENSP00000323822:H168R	ENSP00000323822:H168R	H	-	2	0	FBXO11	47915477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.250000	0.74265	0.477000	0.44152	CAT	-	superfamily_SSF81383		0.279	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	protein_coding	OTTHUMT00000251181.3	T	NM_012167, NM_018693, NM_025133		47915477	-1	no_errors	NM_025133	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ADNP	23394	genome.wustl.edu	37	20	49509938	49509938	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr20:49509938C>A	ENST00000396029.3	-	5	1880	c.1313G>T	c.(1312-1314)gGt>gTt	p.G438V	ADNP_ENST00000396032.3_Missense_Mutation_p.G438V|ADNP_ENST00000349014.3_Missense_Mutation_p.G438V|ADNP_ENST00000371602.4_Missense_Mutation_p.G438V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	438					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGAAGTGTTACCTGGGGGAGG	0.458																																																0			20											104.0	109.0	107.0					20																	49509938		2203	4300	6503	48943345	SO:0001583	missense	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1313G>T	20.37:g.49509938C>A	ENSP00000379346:p.Gly438Val		48943345	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox	p.G438V	ENST00000396029.3	37	c.1313	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	0.199	-1.046014	0.01997	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	0.214	0.15249	.	0.920656	0.09491	N	0.794883	T	0.11537	0.0281	N	0.01168	-0.975	0.26630	N	0.972492	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.27785	T	0.31	-5.8613	4.4011	0.11386	0.172:0.4914:0.2241:0.1125	.	438	Q9H2P0	ADNP_HUMAN	V	438	.	ENSP00000342905:G438V	G	-	2	0	ADNP	48943345	0.759000	0.28416	0.005000	0.12908	0.574000	0.36063	1.564000	0.36375	-0.151000	0.11176	-0.171000	0.13296	GGT	-	NULL		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	protein_coding	OTTHUMT00000079705.2	C	NM_181442		48943345	-1	no_errors	NM_015339	genbank	human	reviewed	54_36p	missense	SNP	0.047	A
C10orf71	118461	genome.wustl.edu	37	10	50531957	50531957	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr10:50531957C>G	ENST00000374144.3	+	3	1655	c.1367C>G	c.(1366-1368)gCc>gGc	p.A456G	C10orf71_ENST00000323868.4_Missense_Mutation_p.A456G			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	456										endometrium(1)	1						AGCAAGCACGCCCTGGATTCA	0.532																																																0			10											57.0	60.0	59.0					10																	50531957		2076	4230	6306	50201963	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1367C>G	10.37:g.50531957C>G	ENSP00000363259:p.Ala456Gly		50201963	A0AVL8	Missense_Mutation	SNP	NULL	p.A456G	ENST00000374144.3	37	c.1367	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726536	0.03158	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14144	2.53;3.65	5.3	-3.86	0.04230	.	2.021170	0.03124	N	0.164129	T	0.04770	0.0129	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.20046	T	0.44	.	1.2369	0.01955	0.2318:0.2064:0.09:0.4718	.	456	Q711Q0-3	.	G	456	ENSP00000318713:A456G;ENSP00000363259:A456G	ENSP00000318713:A456G	A	+	2	0	C10orf71	50201963	0.015000	0.18098	0.002000	0.10522	0.008000	0.06430	0.346000	0.19997	-1.068000	0.03156	0.650000	0.86243	GCC	-	NULL		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50201963	+1	no_errors	NM_199459	genbank	human	validated	54_36p	missense	SNP	0.001	G
PGGT1BP1	653895	genome.wustl.edu	37	10	52486914	52486914	+	IGR	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr10:52486914C>A								RP11-564C4.6 (66886 upstream) : ASAH2B (12163 downstream)																							GCAAATCCCCCTACGAGGCGA	0.403																																																0			10																																								52156920	SO:0001628	intergenic_variant	653895																															10.37:g.52486914C>A			52156920		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.403					LOC653895			C			52156920	-1	pseudogene	XR_037143	genbank	human	model	54_36p	rna	SNP	1.000	A
PXDNL	137902	genome.wustl.edu	37	8	52284521	52284521	+	Silent	SNP	G	G	T	rs376858684		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:52284521G>T	ENST00000356297.4	-	19	3913	c.3813C>A	c.(3811-3813)gtC>gtA	p.V1271V	PXDNL_ENST00000543296.1_Silent_p.V1271V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1271					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTTTACAAAGACATCAGCCT	0.527																																																0			8											77.0	77.0	77.0					8																	52284521		2045	4195	6240	52447074	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3813C>A	8.37:g.52284521G>T			52447074	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1	p.V1271	ENST00000356297.4	37	c.3813	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	6.604	0.479917	0.12581	.	.	ENSG00000147485	ENST00000522933	.	.	.	5.11	-1.73	0.08081	.	.	.	.	.	T	0.65923	0.2738	.	.	.	0.49483	D	0.99979	.	.	.	.	.	.	T	0.62110	-0.6923	4	.	.	.	.	14.7708	0.69675	0.0736:0.7041:0.2223:0.0	.	.	.	.	Y	345	.	.	S	-	2	0	PXDNL	52447074	0.991000	0.36638	0.000000	0.03702	0.794000	0.44872	0.094000	0.15107	-0.761000	0.04670	0.491000	0.48974	TCT	-	superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase		0.527	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52447074	-1	no_errors	NM_144651	genbank	human	validated	54_36p	silent	SNP	0.374	T
CCDC85A	114800	genome.wustl.edu	37	2	56599533	56599533	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:56599533G>T	ENST00000407595.2	+	4	1874	c.1372G>T	c.(1372-1374)Ggc>Tgc	p.G458C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	458										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATGGAGAAAGGCTGGGGGTC	0.507																																																0			2											29.0	32.0	31.0					2																	56599533		1899	4112	6011	56453037	SO:0001583	missense	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1372G>T	2.37:g.56599533G>T	ENSP00000384040:p.Gly458Cys		56453037		Missense_Mutation	SNP	HMMPfam_DUF2216	p.G458C	ENST00000407595.2	37	c.1372	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836946	0.71373	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.95	0.65309	.	0.000000	0.53938	D	0.000058	T	0.37156	0.0993	N	0.08118	0	0.41111	D	0.985747	D	0.56287	0.975	P	0.51487	0.671	T	0.37619	-0.9698	9	0.72032	D	0.01	-30.3556	11.3652	0.49668	0.0859:0.0:0.9141:0.0	.	458	Q96PX6	CC85A_HUMAN	C	458;47	.	ENSP00000384040:G458C	G	+	1	0	CCDC85A	56453037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.651000	0.46674	2.767000	0.95098	0.591000	0.81541	GGC	-	NULL		0.507	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	protein_coding	OTTHUMT00000324993.1	G			56453037	+1	no_errors	NM_001080433	genbank	human	provisional	54_36p	missense	SNP	1.000	T
PPIB	5479	genome.wustl.edu	37	15	64449052	64449052	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr15:64449052C>A	ENST00000300026.3	-	4	618	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	134	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CAGCCAGGCCCGTAGTGCTTC	0.562																																					GBM(105;399 1481 32889 33051 36637)											0			15											138.0	118.0	125.0					15																	64449052		2203	4300	6503	62236105	SO:0001583	missense	5479				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.400G>T	15.37:g.64449052C>A	ENSP00000300026:p.Gly134Trp		62236105	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1	p.G134W	ENST00000300026.3	37	c.400	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027047	0.93518	.	.	ENSG00000166794	ENST00000300026	T	0.22945	1.93	5.92	5.92	0.95590	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.046382	0.85682	D	0.000000	T	0.64832	0.2634	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73151	-0.4073	10	0.87932	D	0	.	19.9192	0.97079	0.0:1.0:0.0:0.0	.	134	P23284	PPIB_HUMAN	W	134	ENSP00000300026:G134W	ENSP00000300026:G134W	G	-	1	0	PPIB	62236105	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	7.352000	0.79404	2.811000	0.96726	0.555000	0.69702	GGG	-	superfamily_CSA_PPIase,HMMPfam_Pro_isomerase		0.562	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	protein_coding	OTTHUMT00000256604.1	C			62236105	-1	no_errors	NM_000942	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
UGT2B11	10720	genome.wustl.edu	37	4	70080377	70080377	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:70080377T>A	ENST00000446444.1	-	1	72	c.64A>T	c.(64-66)Agt>Tgt	p.S22C	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	22					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCCACAACTCCCAGAGCTA	0.448																																																0			4											195.0	200.0	198.0					4																	70080377		2203	4300	6503	70114966	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.64A>T	4.37:g.70080377T>A	ENSP00000387683:p.Ser22Cys		70114966	Q3KNV9	Missense_Mutation	SNP	superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT	p.S22C	ENST00000446444.1	37	c.64	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	7.723	0.697664	0.15106	.	.	ENSG00000213759	ENST00000446444	T	0.61040	0.14	1.96	-1.11	0.09840	.	2.751080	0.02093	U	0.053276	T	0.63803	0.2542	M	0.84433	2.695	0.09310	N	1	D	0.55172	0.97	P	0.48089	0.566	T	0.50363	-0.8837	10	0.38643	T	0.18	.	1.9646	0.03393	0.4446:0.2145:0.0:0.3408	.	22	O75310	UDB11_HUMAN	C	22	ENSP00000387683:S22C	ENSP00000387683:S22C	S	-	1	0	UGT2B11	70114966	0.000000	0.05858	0.152000	0.22495	0.150000	0.21749	0.056000	0.14256	0.061000	0.16311	0.155000	0.16302	AGT	-	NULL		0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	protein_coding	OTTHUMT00000251551.2	T	NM_001073		70114966	-1	no_errors	NM_001073	genbank	human	provisional	54_36p	missense	SNP	0.002	A
C6orf57	135154	genome.wustl.edu	37	6	71289270	71289270	+	Splice_Site	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:71289270G>T	ENST00000370474.3	+	2	241		c.e2+1			NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57						innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)				kidney(1)|lung(1)|skin(1)	3						CCACTGGAAAGTAAGTATAAT	0.353																																																0			6											72.0	73.0	73.0					6																	71289270		2203	4300	6503	71345991	SO:0001630	splice_region_variant	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.217+1G>T	6.37:g.71289270G>T			71345991	E1P532	Splice_Site	SNP	-	e2+1	ENST00000370474.3	37	c.217+1	CCDS4972.1	6	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003896	0.54254	.	.	ENSG00000154079	ENST00000370474	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3809	0.87404	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf57	71345991	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	6.374000	0.73132	2.457000	0.83068	0.551000	0.68910	.	-	-		0.353	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf57	protein_coding	OTTHUMT00000041140.1	G	NM_145267	Intron	71345991	+1	no_errors	NM_145267	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
FOXK2	3607	genome.wustl.edu	37	17	80521410	80521410	+	Silent	SNP	C	C	A	rs201972160	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:80521410C>A	ENST00000335255.5	+	2	774	c.600C>A	c.(598-600)ccC>ccA	p.P200P		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	200					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGCCCTCCCCCACGGGAACCA	0.612													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16126	0.0		0.0	False		,,,				2504	0.0															0			17											98.0	62.0	74.0					17																	80521410		2203	4300	6503	78114699	SO:0001819	synonymous_variant	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.600C>A	17.37:g.80521410C>A			78114699	A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	"superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2"	p.P200	ENST00000335255.5	37	c.600	CCDS11813.1	17																																																																																			-	NULL		0.612	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	protein_coding	OTTHUMT00000277099.2	C	NM_181430		78114699	+1	no_errors	NM_004514	genbank	human	reviewed	54_36p	silent	SNP	0.998	A
VCAN	1462	genome.wustl.edu	37	5	82785990	82785990	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:82785990G>A	ENST00000265077.3	+	3	709	c.144G>A	c.(142-144)acG>acA	p.T48T	VCAN_ENST00000342785.4_Silent_p.T48T|VCAN_ENST00000343200.5_Silent_p.T48T|VCAN_ENST00000512590.2_De_novo_Start_InFrame|VCAN_ENST00000502527.2_Silent_p.T48T|VCAN_ENST00000513984.1_Silent_p.T48T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	48	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTTTTCAACGATGCCTACTT	0.418																																																0			5											81.0	78.0	79.0					5																	82785990		2203	4300	6503	82821746	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.144G>A	5.37:g.82785990G>A			82821746	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.T48	ENST00000265077.3	37	c.144	CCDS4060.1	5																																																																																			-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82821746	+1	no_errors	NM_004385	genbank	human	validated	54_36p	silent	SNP	0.930	A
LOC101930107	101930107	genome.wustl.edu	37	2	88025695	88025695	+	IGR	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:88025695G>A								MIR4435-1 (96342 upstream) : PLGLB2 (21910 downstream)																							TACCAAGCTGGCGACTCTCAA	0.498																																																0			2																																								87806810	SO:0001628	intergenic_variant	730268																															2.37:g.88025695G>A			87806810		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.498					LOC730268			G			87806810	+1	no_errors	XR_015914	genbank	human	model	54_36p	rna	SNP	1.000	A
PDE6C	5146	genome.wustl.edu	37	10	95372912	95372912	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr10:95372912G>T	ENST00000371447.3	+	1	568	c.430G>T	c.(430-432)Ggt>Tgt	p.G144C		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	144	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	TGGGATAGTGGGTTGGGCTGC	0.532																																																0			10											57.0	58.0	58.0					10																	95372912		2203	4299	6502	95362902	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.430G>T	10.37:g.95372912G>T	ENSP00000360502:p.Gly144Cys		95362902	A6NCR6|Q5VY29	Missense_Mutation	SNP	superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.G144C	ENST00000371447.3	37	c.430	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946333	0.73672	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.55	4.65	0.58169	GAF (2);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93445	0.6797	10	0.87932	D	0	.	14.6425	0.68737	0.0694:0.0:0.9306:0.0	.	144	P51160	PDE6C_HUMAN	C	144	ENSP00000360502:G144C	ENSP00000360502:G144C	G	+	1	0	PDE6C	95362902	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.652000	0.98499	1.584000	0.49913	0.655000	0.94253	GGT	-	superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF		0.532	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95362902	+1	no_errors	NM_006204	genbank	human	validated	54_36p	missense	SNP	0.998	T
WARS	7453	genome.wustl.edu	37	14	100801271	100801271	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr14:100801271T>C	ENST00000355338.2	-	11	1975	c.1357A>G	c.(1357-1359)Acg>Gcg	p.T453A	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.T412A|WARS_ENST00000392882.2_Missense_Mutation_p.T453A|WARS_ENST00000358655.4_Missense_Mutation_p.T412A|WARS_ENST00000557135.1_Missense_Mutation_p.T453A|WARS_ENST00000344102.5_Missense_Mutation_p.T412A	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	453					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATCTCATCCGTGACCTCCTTG	0.512																																																0			14											141.0	117.0	125.0					14																	100801271		2203	4300	6503	99871024	SO:0001583	missense	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1357A>G	14.37:g.100801271T>C	ENSP00000347495:p.Thr453Ala		99871024	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	superfamily_S15/NS1 RNA-binding domain,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1b	p.T453A	ENST00000355338.2	37	c.1357	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955321	0.73902	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	H	0.94698	3.57	0.80722	D	1	B	0.30326	0.276	B	0.34452	0.183	T	0.83074	-0.0141	10	0.56958	D	0.05	-0.4795	15.4012	0.74843	0.0:0.0:0.0:1.0	.	453	P23381	SYWC_HUMAN	A	453;412;453;412;453;412	ENSP00000376620:T453A;ENSP00000351481:T412A;ENSP00000347495:T453A;ENSP00000339485:T412A;ENSP00000451460:T453A;ENSP00000451887:T412A	ENSP00000339485:T412A	T	-	1	0	WARS	99871024	1.000000	0.71417	0.996000	0.52242	0.563000	0.35712	7.903000	0.87398	2.101000	0.63845	0.482000	0.46254	ACG	-	superfamily_Nucleotidylyl transferase		0.512	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	protein_coding	OTTHUMT00000414236.1	T	NM_004184		99871024	-1	no_errors	NM_004184	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GRIK2	2898	genome.wustl.edu	37	6	102074301	102074301	+	Silent	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr6:102074301A>T	ENST00000421544.1	+	3	820	c.330A>T	c.(328-330)tcA>tcT	p.S110S	GRIK2_ENST00000358361.3_Silent_p.S110S|GRIK2_ENST00000369138.1_Silent_p.S110S|GRIK2_ENST00000369134.4_Silent_p.S61S|GRIK2_ENST00000369137.3_Silent_p.S110S|GRIK2_ENST00000413795.1_Silent_p.S110S|GRIK2_ENST00000318991.6_Silent_p.S110S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	110					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S110S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCGGGCCTTCACACAGCTCAT	0.532																																																2	Substitution - coding silent(2)	large_intestine(2)	6											171.0	172.0	172.0					6																	102074301		2203	4300	6503	102180994	SO:0001819	synonymous_variant	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.330A>T	6.37:g.102074301A>T			102180994	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.S110	ENST00000421544.1	37	c.330	CCDS5048.1	6																																																																																			-	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor		0.532	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	A			102180994	+1	no_errors	NM_021956	genbank	human	reviewed	54_36p	silent	SNP	0.677	T
TBCK	93627	genome.wustl.edu	37	4	107170083	107170083	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:107170083T>C	ENST00000273980.5	-	9	1162	c.715A>G	c.(715-717)Ata>Gta	p.I239V	TBCK_ENST00000432496.2_Missense_Mutation_p.I239V|TBCK_ENST00000394708.2_Missense_Mutation_p.I239V|TBCK_ENST00000361687.4_Missense_Mutation_p.I176V|TBCK_ENST00000394706.3_Missense_Mutation_p.I200V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAACCTTTATAATGTCCAAA	0.294																																																0			4											79.0	77.0	78.0					4																	107170083		2202	4298	6500	107389532	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.715A>G	4.37:g.107170083T>C	ENSP00000273980:p.Ile239Val		107389532		Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC,superfamily_Rhodanese-like,HMMSmart_RHOD,HMMPfam_Rhodanese	p.I176V	ENST00000273980.5	37	c.526	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720590	0.30503	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.45	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083079	0.85682	N	0.000000	T	0.05593	0.0147	L	0.28344	0.845	0.45490	D	0.998451	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.38735	-0.9647	10	0.22109	T	0.4	.	6.5123	0.22228	0.1377:0.0735:0.0:0.7888	.	239;200;176	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	239;239;176;200;239	ENSP00000273980:I239V;ENSP00000405847:I239V;ENSP00000355338:I176V;ENSP00000378196:I200V;ENSP00000378198:I239V	ENSP00000273980:I239V	I	-	1	0	TBCK	107389532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.914000	0.48797	0.902000	0.36520	0.528000	0.53228	ATA	-	superfamily_Kinase_like		0.294	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCKL	protein_coding	OTTHUMT00000253953.4	T	NM_033115		107389532	-1	no_errors	NM_033115	genbank	human	provisional	54_36p	missense	SNP	1.000	C
MYH15	22989	genome.wustl.edu	37	3	108107824	108107824	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:108107824G>T	ENST00000273353.3	-	39	5644	c.5588C>A	c.(5587-5589)aCc>aAc	p.T1863N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1863						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACCTGATAGGTCAGCTCTTT	0.552																																																0			3											101.0	108.0	106.0					3																	108107824		2007	4176	6183	109590514	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5588C>A	3.37:g.108107824G>T	ENSP00000273353:p.Thr1863Asn		109590514		Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat	p.T1863N	ENST00000273353.3	37	c.5588	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785706	0.70337	.	.	ENSG00000144821	ENST00000273353	T	0.78481	-1.18	5.66	0.63	0.17693	Myosin tail (1);	.	.	.	.	T	0.74215	0.3687	M	0.77103	2.36	0.33982	D	0.648113	B	0.15473	0.013	B	0.26770	0.073	T	0.69749	-0.5061	9	0.62326	D	0.03	.	4.2445	0.10665	0.1299:0.2322:0.5178:0.1201	.	1863	Q9Y2K3	MYH15_HUMAN	N	1863	ENSP00000273353:T1863N	ENSP00000273353:T1863N	T	-	2	0	MYH15	109590514	1.000000	0.71417	0.000000	0.03702	0.861000	0.49209	1.420000	0.34804	-0.168000	0.10853	-0.140000	0.14226	ACC	-	HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat		0.552	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	G	XM_036988		109590514	-1	no_errors	NM_014981	genbank	human	validated	54_36p	missense	SNP	1.000	T
LINC01205	401082	genome.wustl.edu	37	3	109128789	109128789	+	lincRNA	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr3:109128789G>T	ENST00000497996.1	+	0	0																											TGATTTCACGGAGTGCCACAG	0.502																																																0			3																																								110611479			0																															3.37:g.109128789G>T			110611479		Silent	SNP	superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone	p.L36	ENST00000497996.1	37	c.108		3																																																																																			-	superfamily_Histone-fold,HMMSmart_SM00428		0.502	RP11-702L6.4-002	KNOWN	basic	lincRNA	LOC644950	lincRNA	OTTHUMT00000353892.1	G			110611479	-1	no_errors	XM_001717224	genbank	human	model	54_36p	silent	SNP	1.000	T
PPP2R1B	5519	genome.wustl.edu	37	11	111618723	111618723	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:111618723C>G	ENST00000527614.1	-	11	1419	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.D291H|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.D388H|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.D325H|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.D452H|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.D407H	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	452					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCTTTTCATCAAAGAATTCC	0.348																																																0			11											110.0	99.0	103.0					11																	111618723		2201	4296	6497	111123933	SO:0001583	missense	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1354G>C	11.37:g.111618723C>G	ENSP00000437193:p.Asp452His		111123933	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_HEAT	p.D452H	ENST00000527614.1	37	c.1354	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749839	0.69533	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.32272	2.22;2.22;2.22;2.22;1.46;2.22	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.044662	0.85682	D	0.000000	T	0.55130	0.1901	M	0.87900	2.915	0.80722	D	1	P;B;B;P;B;B	0.43857	0.585;0.142;0.127;0.819;0.424;0.358	P;B;B;P;B;B	0.51550	0.487;0.25;0.107;0.673;0.131;0.179	T	0.60727	-0.7206	10	0.87932	D	0	-22.5378	17.7493	0.88429	0.0:1.0:0.0:0.0	.	325;407;291;388;452;452	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	H	452;325;388;452;291;407;325	ENSP00000311344:D452H;ENSP00000410671:D388H;ENSP00000437193:D452H;ENSP00000415759:D291H;ENSP00000343317:D407H;ENSP00000376775:D325H	ENSP00000311344:D452H	D	-	1	0	PPP2R1B	111123933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.861000	0.98227	0.655000	0.94253	GAT	-	superfamily_ARM-type_fold,HMMPfam_HEAT		0.348	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	protein_coding	OTTHUMT00000391298.1	C	NM_002716		111123933	-1	no_errors	NM_181699	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
GPR85	54329	genome.wustl.edu	37	7	112724273	112724273	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr7:112724273C>A	ENST00000297146.3	-	3	1107	c.504G>T	c.(502-504)gaG>gaT	p.E168D	GPR85_ENST00000424100.1_Missense_Mutation_p.E168D|GPR85_ENST00000501255.2_Missense_Mutation_p.E168D|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.E168D	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	168					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATTGATCTTCCTCCCTAATGA	0.498																																																0			7											86.0	77.0	80.0					7																	112724273		2203	4300	6503	112511509	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.504G>T	7.37:g.112724273C>A	ENSP00000297146:p.Glu168Asp		112511509	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.E168D	ENST00000297146.3	37	c.504	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444195	0.25987	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.41	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	L	0.33245	0.995	0.80722	D	1	B	0.14805	0.011	B	0.18263	0.021	T	0.04621	-1.0938	10	0.11794	T	0.64	.	11.3914	0.49817	0.0:0.8574:0.0:0.1426	.	168	P60893	GPR85_HUMAN	D	168	ENSP00000445808:E168D;ENSP00000297146:E168D;ENSP00000396763:E168D;ENSP00000401178:E168D	ENSP00000297146:E168D	E	-	3	2	GPR85	112511509	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.198000	0.42705	0.740000	0.32651	0.650000	0.86243	GAG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	protein_coding	OTTHUMT00000346650.2	C			112511509	-1	no_errors	NM_018970	genbank	human	validated	54_36p	missense	SNP	1.000	A
DCLRE1B	64858	genome.wustl.edu	37	1	114454658	114454658	+	Missense_Mutation	SNP	C	C	A	rs201447479		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:114454658C>A	ENST00000369563.3	+	4	1890	c.1444C>A	c.(1444-1446)Ccc>Acc	p.P482T	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	482					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGGTTCTCCCCTGTCCCA	0.537								Other identified genes with known or suspected DNA repair function																																								0			1											101.0	107.0	105.0					1																	114454658		2203	4300	6503	114256181	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1444C>A	1.37:g.114454658C>A	ENSP00000358576:p.Pro482Thr		114256181	Q9H9E5	Missense_Mutation	SNP	HMMPfam_Lactamase_B,superfamily_SSF56281,HMMPfam_DRMBL	p.P482T	ENST00000369563.3	37	c.1444	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616200	0.28801	.	.	ENSG00000118655	ENST00000369563	T	0.75477	-0.94	5.12	3.2	0.36748	.	0.552403	0.17931	N	0.157172	T	0.41190	0.1148	L	0.29908	0.895	0.09310	N	1	B	0.30793	0.295	B	0.30029	0.11	T	0.24225	-1.0166	10	0.46703	T	0.11	-15.0619	7.3171	0.26507	0.0:0.7357:0.1713:0.0931	.	482	Q9H816	DCR1B_HUMAN	T	482	ENSP00000358576:P482T	ENSP00000358576:P482T	P	+	1	0	DCLRE1B	114256181	0.000000	0.05858	0.003000	0.11579	0.276000	0.26787	0.090000	0.15025	0.795000	0.33922	0.655000	0.94253	CCC	-	NULL		0.537	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	protein_coding	OTTHUMT00000033020.2	C	NM_022836		114256181	+1	no_errors	NM_022836	genbank	human	provisional	54_36p	missense	SNP	0.004	A
OR10S1	219873	genome.wustl.edu	37	11	123848349	123848349	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:123848349G>C	ENST00000531945.1	-	1	139	c.50C>G	c.(49-51)cCc>cGc	p.P17R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTCTGGTTGGGGTTCTCCGT	0.478																																																0			11											82.0	82.0	82.0					11																	123848349		2202	4299	6501	123353559	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.50C>G	11.37:g.123848349G>C	ENSP00000431914:p.Pro17Arg		123353559	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.P17R	ENST00000531945.1	37	c.50	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	0.408	-0.915006	0.02415	.	.	ENSG00000196248	ENST00000531945	T	0.00249	8.44	4.75	3.76	0.43208	.	1.137800	0.06852	U	0.797515	T	0.00073	0.0002	N	0.02721	-0.515	0.19300	N	0.999975	B	0.29716	0.255	B	0.30782	0.12	T	0.01819	-1.1267	10	0.09590	T	0.72	-7.7192	5.3031	0.15790	0.3045:0.0:0.6955:0.0	.	17	Q8NGN2	O10S1_HUMAN	R	17	ENSP00000431914:P17R	ENSP00000431914:P17R	P	-	2	0	OR10S1	123353559	.	.	0.729000	0.30791	0.136000	0.21042	.	.	1.067000	0.40740	0.644000	0.83932	CCC	-	superfamily_Family A G protein-coupled receptor-like		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	protein_coding	OTTHUMT00000387265.2	G	NM_001004474		123353559	-1	no_errors	NM_001004474	genbank	human	provisional	54_36p	missense	SNP	0.418	C
TMEM132B	114795	genome.wustl.edu	37	12	125834811	125834811	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:125834811A>T	ENST00000299308.3	+	2	874	c.866A>T	c.(865-867)aAt>aTt	p.N289I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	289						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCTCTGAATCTAGTCCGG	0.547																																																0			12											206.0	197.0	200.0					12																	125834811		1977	4147	6124	124400764	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.866A>T	12.37:g.125834811A>T	ENSP00000299308:p.Asn289Ile		124400764	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.N289I	ENST00000299308.3	37	c.866	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413792	0.62511	.	.	ENSG00000139364	ENST00000299308	T	0.12672	2.66	5.34	4.21	0.49690	.	.	.	.	.	T	0.10078	0.0247	L	0.39898	1.24	0.80722	D	1	B	0.24920	0.114	B	0.20955	0.032	T	0.15549	-1.0433	9	0.37606	T	0.19	.	4.3751	0.11267	0.7111:0.0:0.2889:0.0	.	289	Q14DG7	T132B_HUMAN	I	289	ENSP00000299308:N289I	ENSP00000299308:N289I	N	+	2	0	TMEM132B	124400764	0.999000	0.42202	1.000000	0.80357	0.862000	0.49288	1.469000	0.35343	2.014000	0.59158	0.533000	0.62120	AAT	-	NULL		0.547	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	A	NM_052907		124400764	+1	no_errors	NM_052907	genbank	human	provisional	54_36p	missense	SNP	0.975	T
FAT4	79633	genome.wustl.edu	37	4	126372307	126372307	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr4:126372307G>T	ENST00000394329.3	+	9	10149	c.10136G>T	c.(10135-10137)gGc>gTc	p.G3379V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1677V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3379	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGAACTTTGGCAGCATTAGA	0.403																																																0			4											162.0	158.0	159.0					4																	126372307		2203	4300	6503	126591757	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10136G>T	4.37:g.126372307G>T	ENSP00000377862:p.Gly3379Val		126591757	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF	p.G3379V	ENST00000394329.3	37	c.10136	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768661	0.49680	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03441	3.93;3.93	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34828	U	0.003642	T	0.30448	0.0765	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.48305	-0.9047	10	0.87932	D	0	.	18.9292	0.92558	0.0:0.0:1.0:0.0	.	1677;3379;3379	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3379;1677	ENSP00000377862:G3379V;ENSP00000335169:G1677V	ENSP00000335169:G1677V	G	+	2	0	FAT4	126591757	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	9.666000	0.98612	2.461000	0.83175	0.655000	0.94253	GGC	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126591757	+1	no_errors	NM_024582	genbank	human	validated	54_36p	missense	SNP	1.000	T
RIMBP2	23504	genome.wustl.edu	37	12	130926717	130926717	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:130926717A>T	ENST00000261655.4	-	8	1292	c.1129T>A	c.(1129-1131)Tcg>Acg	p.S377T	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S285T|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S285T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCATCCGAGCTGCCCCTG	0.642																																																0			12											116.0	108.0	111.0					12																	130926717		2203	4300	6503	129492670	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1129T>A	12.37:g.130926717A>T	ENSP00000261655:p.Ser377Thr		129492670	Q96ID2	Missense_Mutation	SNP	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060	p.S377T	ENST00000261655.4	37	c.1129	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	a	15.81	2.942868	0.53079	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.58506	0.33;0.33;0.33	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	M	0.86178	2.8	0.52501	D	0.999955	D;D;D	0.89917	0.993;1.0;0.982	P;D;D	0.75484	0.714;0.986;0.952	T	0.81125	-0.1075	10	0.66056	D	0.02	-15.1802	13.3303	0.60483	1.0:0.0:0.0:0.0	.	285;285;377	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	T	377;285;285;285	ENSP00000261655:S377T;ENSP00000440347:S285T;ENSP00000439159:S285T	ENSP00000261655:S377T	S	-	1	0	RIMBP2	129492670	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.252000	0.78309	1.522000	0.49001	0.439000	0.28862	TCG	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	A	NM_015347		129492670	-1	no_errors	NM_015347	genbank	human	validated	54_36p	missense	SNP	1.000	T
ADAMTS8	11095	genome.wustl.edu	37	11	130275533	130275533	+	Missense_Mutation	SNP	C	C	T	rs61753089	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr11:130275533C>T	ENST00000257359.6	-	9	3296	c.2590G>A	c.(2590-2592)Ggc>Agc	p.G864S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	864	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GAGGCCTGGCCGGAGGGGTCC	0.672													C|||	15	0.00299521	0.0	0.0072	5008	,	,		17156	0.0		0.008	False		,,,				2504	0.002															0			11						C	SER/GLY	10,3942		0,10,1966	49.0	57.0	55.0		2590	4.4	0.8	11	dbSNP_129	55	56,8250		0,56,4097	yes	missense	ADAMTS8	NM_007037.4	56	0,66,6063	TT,TC,CC		0.6742,0.253,0.5384	probably-damaging	864/890	130275533	66,12192	1976	4153	6129	129780743	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2590G>A	11.37:g.130275533C>T	ENSP00000257359:p.Gly864Ser		129780743	Q9NZS0	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.G864S	ENST00000257359.6	37	c.2590	CCDS41732.1	11	7	0.003205128205128205	0	0.0	3	0.008287292817679558	0	0.0	4	0.005277044854881266	C	18.86	3.714106	0.68730	0.00253	0.006742	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50001	0.76	5.35	4.42	0.53409	.	0.048013	0.85682	N	0.000000	T	0.57359	0.2048	M	0.79475	2.455	0.80722	D	1	B;D	0.89917	0.094;1.0	B;D	0.91635	0.053;0.999	T	0.63834	-0.6547	10	0.09084	T	0.74	.	14.2876	0.66256	0.0:0.9272:0.0:0.0728	rs61753089	864;345	Q9UP79;B3KVX9	ATS8_HUMAN;.	S	262;864;893	ENSP00000257359:G864S	ENSP00000257359:G864S	G	-	1	0	ADAMTS8	129780743	1.000000	0.71417	0.828000	0.32881	0.891000	0.51852	5.750000	0.68712	1.228000	0.43614	0.591000	0.81541	GGC	-	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1		0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	protein_coding	OTTHUMT00000385636.1	C	NM_007037		129780743	-1	no_errors	NM_007037	genbank	human	reviewed	54_36p	missense	SNP	0.974	T
GOLGA3	2802	genome.wustl.edu	37	12	133398612	133398612	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr12:133398612C>A	ENST00000450791.2	-	1	286	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V35L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V35L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V35L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.V35L			Q08378	GOGA3_HUMAN	golgin A3	35	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGGTGGCACCAGTGGGCCC	0.647																																																0			12											64.0	63.0	63.0					12																	133398612		2203	4300	6503	131908685	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.103G>T	12.37:g.133398612C>A	ENSP00000410378:p.Val35Leu		131908685	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Spectrin repeat,superfamily_Prefoldin	p.V35L	ENST00000450791.2	37	c.103	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364178	0.24684	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29917	1.98;1.98;1.98;1.55;1.55	4.85	-0.619	0.11572	.	0.779066	0.11019	N	0.608630	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	B;B;B	0.21606	0.058;0.034;0.034	B;B;B	0.22601	0.04;0.04;0.04	T	0.25047	-1.0143	10	0.33940	T	0.23	.	4.7173	0.12901	0.1475:0.4829:0.0:0.3696	.	35;35;35	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	35	ENSP00000204726:V35L;ENSP00000410378:V35L;ENSP00000409303:V35L;ENSP00000442143:V35L;ENSP00000442603:V35L	ENSP00000204726:V35L	V	-	1	0	GOLGA3	131908685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.371000	0.20450	-0.005000	0.14395	0.561000	0.74099	GTG	-	NULL		0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	protein_coding	OTTHUMT00000397569.2	C	NM_005895		131908685	-1	no_errors	NM_005895	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
SPOCK1	6695	genome.wustl.edu	37	5	136320850	136320850	+	Missense_Mutation	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:136320850T>A	ENST00000394945.1	-	9	1139	c.970A>T	c.(970-972)Agt>Tgt	p.S324C	SPOCK1_ENST00000282223.7_Missense_Mutation_p.S324C|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	324	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCCCTTACTCAGCTTCTGA	0.393																																																0			5											190.0	182.0	185.0					5																	136320850		2203	4300	6503	136348749	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.970A>T	5.37:g.136320850T>A	ENSP00000378401:p.Ser324Cys		136348749	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473,superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY	p.S324C	ENST00000394945.1	37	c.970	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776781	0.70107	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.64618	-0.11;-0.11	5.82	5.82	0.92795	Thyroglobulin type-1 (4);	0.127047	0.64402	D	0.000001	T	0.67059	0.2853	L	0.49126	1.545	0.45025	D	0.998049	D	0.58620	0.983	P	0.54346	0.749	T	0.70121	-0.4959	10	0.66056	D	0.02	.	11.3785	0.49743	0.0:0.0:0.1512:0.8488	.	324	Q08629	TICN1_HUMAN	C	324	ENSP00000378401:S324C;ENSP00000282223:S324C	ENSP00000282223:S324C	S	-	1	0	SPOCK1	136348749	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.012000	0.40932	2.227000	0.72691	0.454000	0.30748	AGT	-	superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1		0.393	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	protein_coding	OTTHUMT00000251222.1	T	NM_004598		136348749	-1	no_errors	NM_004598	genbank	human	reviewed	54_36p	missense	SNP	0.970	A
KIAA1549	57670	genome.wustl.edu	37	7	138596024	138596024	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr7:138596024G>T	ENST00000422774.1	-	4	3061	c.3013C>A	c.(3013-3015)Cct>Act	p.P1005T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P955T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1005T			Q9HCM3	K1549_HUMAN	KIAA1549	1005						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAAACGAAAGGACCGGATGTT	0.378			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	0			7											68.0	66.0	66.0					7																	138596024		1865	4102	5967	138246564	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3013C>A	7.37:g.138596024G>T	ENSP00000416040:p.Pro1005Thr		138246564	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	PatternScan_HTH_LUXR_1	p.P955T	ENST00000422774.1	37	c.2863	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533125	0.45073	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24908	1.83;1.84;1.84	5.23	5.23	0.72850	.	0.078739	0.52532	D	0.000071	T	0.41971	0.1182	L	0.36672	1.1	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	T	0.05852	-1.0860	10	0.35671	T	0.21	.	17.9688	0.89107	0.0:0.0:1.0:0.0	.	1005;1005	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	1005;955;1005	ENSP00000406661:P1005T;ENSP00000242365:P955T;ENSP00000416040:P1005T	ENSP00000242365:P955T	P	-	1	0	KIAA1549	138246564	1.000000	0.71417	0.714000	0.30535	0.209000	0.24338	6.862000	0.75484	2.721000	0.93114	0.655000	0.94253	CCT	-	NULL		0.378	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	G			138246564	-1	no_errors	NM_020910	genbank	human	validated	54_36p	missense	SNP	0.987	T
CACNA1B	774	genome.wustl.edu	37	9	141006926	141006926	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr9:141006926G>T	ENST00000371372.1	+	40	5650	c.5505G>T	c.(5503-5505)aaG>aaT	p.K1835N	CACNA1B_ENST00000277549.5_Missense_Mutation_p.K1029N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K1833N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K1836N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K1834N|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K1835N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1835					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCCAGAAGACTTTGGACT	0.572																																																0			9											83.0	89.0	87.0					9																	141006926		2000	4175	6175	140126747	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5505G>T	9.37:g.141006926G>T	ENSP00000360423:p.Lys1835Asn		140126747	B1AQK5	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.K1835N	ENST00000371372.1	37	c.5505	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112708	0.56398	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.14	5.14	0.70334	.	0.105353	0.64402	D	0.000004	T	0.80813	0.4695	M	0.83852	2.665	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67900	0.937;0.954;0.937	D	0.83650	0.0155	10	0.87932	D	0	.	18.7993	0.92010	0.0:0.0:1.0:0.0	.	1835;1834;1833	Q00975;B1AQK7;B1AQK6	CAC1B_HUMAN;.;.	N	1835;1835;1029;1833;1834;1836	ENSP00000360423:K1835N;ENSP00000277551:K1835N;ENSP00000277549:K1029N;ENSP00000360414:K1833N;ENSP00000360408:K1834N;ENSP00000360406:K1836N	ENSP00000277549:K1029N	K	+	3	2	CACNA1B	140126747	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.674000	0.61612	2.664000	0.90586	0.655000	0.94253	AAG	-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140126747	+1	no_errors	NM_000718	genbank	human	validated	54_36p	missense	SNP	1.000	T
PCDHA1	56147	genome.wustl.edu	37	5	140168195	140168195	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:140168195C>A	ENST00000504120.2	+	1	2320	c.2320C>A	c.(2320-2322)Cca>Aca	p.P774T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P774T|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	774	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTCAGCCCAGGCCTATC	0.532																																																0			5											45.0	43.0	43.0					5																	140168195		2203	4300	6503	140148379	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2320C>A	5.37:g.140168195C>A	ENSP00000420840:p.Pro774Thr		140148379	O75288|Q9NRT7	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.P774T	ENST00000504120.2	37	c.2320	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	10.96	1.499388	0.26861	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.27256	1.68;1.68	4.34	4.34	0.51931	.	0.000000	0.39341	U	0.001396	T	0.60573	0.2279	H	0.94734	3.575	0.27378	N	0.955486	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.62534	-0.6834	10	0.72032	D	0.01	.	12.8001	0.57580	0.0:0.9172:0.0:0.0828	.	774;774	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	T	774	ENSP00000420840:P774T;ENSP00000367373:P774T	ENSP00000367373:P774T	P	+	1	0	PCDHA1	140148379	0.985000	0.35326	0.823000	0.32752	0.158000	0.22134	2.258000	0.43249	2.145000	0.66743	0.644000	0.83932	CCA	-	NULL		0.532	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140148379	+1	no_errors	NM_018900	genbank	human	reviewed	54_36p	missense	SNP	0.990	A
TRAPPC9	83696	genome.wustl.edu	37	8	141310656	141310656	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr8:141310656C>G	ENST00000438773.2	-	11	1813	c.1680G>C	c.(1678-1680)ttG>ttC	p.L560F	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.L658F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L551F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	560					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTGACCCAGCAAGCTTTTCA	0.438																																																0			8											219.0	194.0	203.0					8																	141310656		2203	4300	6503	141379838	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1680G>C	8.37:g.141310656C>G	ENSP00000405060:p.Leu560Phe		141379838	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	HMMPfam_Trs120	p.L658F	ENST00000438773.2	37	c.1974	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.476971|2.476971	0.44044|0.44044	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.92|5.92	4.94|4.94	0.65067|0.65067	.|.	.|0.134422	.|0.51477	.|D	.|0.000094	T|T	0.49795|0.49795	0.1578|0.1578	L|L	0.29908|0.29908	0.895|0.895	0.34922|0.34922	D|D	0.748576|0.748576	.|P;P;P	.|0.47910	.|0.902;0.853;0.659	.|P;P;B	.|0.53450	.|0.726;0.502;0.312	T|T	0.53927|0.53927	-0.8369|-0.8369	5|9	.|0.25751	.|T	.|0.34	.|.	10.6245|10.6245	0.45500|0.45500	0.0:0.861:0.0:0.139|0.0:0.861:0.0:0.139	.|.	.|560;551;658	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	P|F	404|658;551;560	.|.	.|ENSP00000373978:L551F	A|L	-|-	1|3	0|2	TRAPPC9|TRAPPC9	141379838|141379838	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.305000|0.305000	0.19254|0.19254	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	GCT|TTG	-	NULL		0.438	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	protein_coding	OTTHUMT00000377749.1	C	NM_031466		141379838	-1	no_errors	NM_031466	genbank	human	provisional	54_36p	missense	SNP	1.000	G
LOC154761	154761	genome.wustl.edu	37	7	143508033	143508033	+	RNA	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr7:143508033C>A	ENST00000494978.1	-	0	2517					NR_015421.1																						TTGTACCCCTCAAAACACCCC	0.562																																																0			7																																								143138966			0																															7.37:g.143508033C>A			143138966		Nonsense_Mutation	SNP	NULL	p.S237*	ENST00000494978.1	37	c.710		7																																																																																			-	NULL		0.562	RP11-61L23.2-003	PUTATIVE	basic	processed_transcript	uc010lpb.1	pseudogene	OTTHUMT00000349573.1	C			143138966	+1	no_start_codon	ENST00000291129	ensembl	human	known	54_36p	nonsense	SNP	0.220	A
OR10J3	441911	genome.wustl.edu	37	1	159283703	159283703	+	Silent	SNP	G	G	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:159283703G>A	ENST00000332217.5	-	1	746	c.747C>T	c.(745-747)gtC>gtT	p.V249V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGTGGATGATGACCACTGTGA	0.512																																																0			1											135.0	116.0	122.0					1																	159283703		2203	4300	6503	157550327	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.747C>T	1.37:g.159283703G>A			157550327		Silent	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.V249	ENST00000332217.5	37	c.747	CCDS30909.1	1																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.512	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	protein_coding	OTTHUMT00000090629.1	G			157550327	-1	no_errors	NM_001004467	genbank	human	provisional	54_36p	silent	SNP	0.859	A
LY75	4065	genome.wustl.edu	37	2	160755469	160755469	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:160755469A>T	ENST00000263636.4	-	2	223	c.196T>A	c.(196-198)Tta>Ata	p.L66I	LY75_ENST00000553424.1_Missense_Mutation_p.L66I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L66I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L66I|LY75_ENST00000554112.1_Missense_Mutation_p.L66I	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	66	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACTTCCATAACTTGTCCTCA	0.478																																																0			2											152.0	130.0	137.0					2																	160755469		2203	4300	6503	160463715	SO:0001583	missense	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.196T>A	2.37:g.160755469A>T	ENSP00000263636:p.Leu66Ile		160463715	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.L66I	ENST00000263636.4	37	c.196	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	18.01	3.526912	0.64860	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.02	-0.467	0.12150	Ricin B-related lectin (1);Ricin B lectin (2);	0.357587	0.15516	N	0.258310	T	0.54727	0.1876	M	0.82630	2.6	0.21527	N	0.999658	D;P;P	0.53745	0.962;0.842;0.465	P;B;B	0.53649	0.731;0.424;0.178	T	0.53012	-0.8498	10	0.33940	T	0.23	-2.5003	12.3157	0.54955	0.5724:0.0:0.4276:0.0	.	66;66;66	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	I	66	ENSP00000451511:L66I;ENSP00000451446:L66I;ENSP00000263636:L66I;ENSP00000423463:L66I;ENSP00000421035:L66I	ENSP00000423463:L66I	L	-	1	2	LY75;LY75-CD302	160463715	0.301000	0.24444	0.629000	0.29254	0.792000	0.44763	0.280000	0.18790	-0.039000	0.13602	0.533000	0.62120	TTA	-	superfamily_Ricin B-like lectins,HMMSmart_SM00458		0.478	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	A			160463715	-1	no_errors	NM_002349	genbank	human	validated	54_36p	missense	SNP	0.926	T
LRP2	4036	genome.wustl.edu	37	2	169993965	169993965	+	Silent	SNP	T	T	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:169993965T>A	ENST00000263816.3	-	76	13842	c.13557A>T	c.(13555-13557)atA>atT	p.I4519I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4519					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTCAAATATTATGGGCTGCT	0.443																																																0			2											168.0	161.0	163.0					2																	169993965		2203	4300	6503	169702211	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13557A>T	2.37:g.169993965T>A			169702211	O00711|Q16215	Silent	SNP	superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1	p.I4519	ENST00000263816.3	37	c.13557	CCDS2232.1	2																																																																																			-	NULL		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	T	NM_004525		169702211	-1	no_errors	NM_004525	genbank	human	validated	54_36p	silent	SNP	0.993	A
UBTD2	92181	genome.wustl.edu	37	5	171639071	171639071	+	Silent	SNP	C	C	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr5:171639071C>T	ENST00000393792.2	-	3	873	c.468G>A	c.(466-468)ttG>ttA	p.L156L		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	156	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAAAGGCGCAAACGAAGCT	0.502																																																0			5											173.0	151.0	158.0					5																	171639071		2203	4300	6503	171571676	SO:0001819	synonymous_variant	92181			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.468G>A	5.37:g.171639071C>T			171571676	Q8TDQ3	Silent	SNP	PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin	p.L156	ENST00000393792.2	37	c.468	CCDS4379.2	5																																																																																			-	superfamily_SSF54236,HMMSmart_UBQ		0.502	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTD2	protein_coding	OTTHUMT00000252936.1	C	NM_152277		171571676	-1	no_errors	NM_152277	genbank	human	validated	54_36p	silent	SNP	0.998	T
HMCN1	83872	genome.wustl.edu	37	1	185964060	185964060	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:185964060G>T	ENST00000271588.4	+	24	3848	c.3619G>T	c.(3619-3621)Ggt>Tgt	p.G1207C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1207C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1207	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTCCAAAGGTGGAAGCAC	0.478																																																0			1											145.0	131.0	136.0					1																	185964060		2203	4299	6502	184230683	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3619G>T	1.37:g.185964060G>T	ENSP00000271588:p.Gly1207Cys		184230683	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2	p.G1207C	ENST00000271588.4	37	c.3619	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312269	0.40895	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.33216	1.42;1.42	5.35	3.42	0.39159	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.396244	0.30419	N	0.009680	T	0.49762	0.1576	M	0.76328	2.33	0.29155	N	0.878123	D	0.71674	0.998	P	0.61800	0.894	T	0.51276	-0.8726	10	0.72032	D	0.01	.	11.9017	0.52687	0.1514:0.0:0.8486:0.0	.	1207	Q96RW7	HMCN1_HUMAN	C	1207	ENSP00000271588:G1207C;ENSP00000356462:G1207C	ENSP00000271588:G1207C	G	+	1	0	HMCN1	184230683	1.000000	0.71417	0.094000	0.20943	0.016000	0.09150	5.883000	0.69721	1.350000	0.45770	0.650000	0.86243	GGT	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935		184230683	+1	no_errors	NM_031935	genbank	human	reviewed	54_36p	missense	SNP	0.899	T
GPR1	2825	genome.wustl.edu	37	2	207041567	207041567	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:207041567G>T	ENST00000407325.2	-	3	767	c.405C>A	c.(403-405)caC>caA	p.H135Q	GPR1_ENST00000437420.1_Missense_Mutation_p.H135Q	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	135					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGTGGATATAGTGGTCCAGGC	0.453																																																0			2											117.0	109.0	112.0					2																	207041567		2203	4300	6503	206749812	SO:0001583	missense	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.405C>A	2.37:g.207041567G>T	ENSP00000384345:p.His135Gln		206749812	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.H135Q	ENST00000407325.2	37	c.405	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101568	0.37048	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.84	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.056337	0.64402	D	0.000001	T	0.55162	0.1903	N	0.19112	0.55	0.26810	N	0.969019	B	0.20459	0.045	B	0.19666	0.026	T	0.53514	-0.8428	10	0.87932	D	0	.	10.5521	0.45095	0.0765:0.2411:0.6823:0.0	.	135	P46091	GPR1_HUMAN	Q	135	ENSP00000384345:H135Q;ENSP00000397535:H135Q;ENSP00000414836:H135Q;ENSP00000391146:H135Q;ENSP00000414524:H135Q	ENSP00000384345:H135Q	H	-	3	2	GPR1	206749812	0.992000	0.36948	1.000000	0.80357	0.892000	0.51952	0.186000	0.16978	2.768000	0.95171	0.650000	0.86243	CAC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.453	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	protein_coding	OTTHUMT00000256394.2	G	NM_001098199		206749812	-1	no_errors	NM_001098199	genbank	human	validated	54_36p	missense	SNP	1.000	T
CCDC108	255101	genome.wustl.edu	37	2	219868963	219868963	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:219868963C>A	ENST00000341552.5	-	33	5349	c.5266G>T	c.(5266-5268)Ggg>Tgg	p.G1756W	CCDC108_ENST00000441968.1_Missense_Mutation_p.G1756W|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1756W|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1756						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tTTCCCAACCCTGGATAGTGC	0.542																																																0			2											147.0	141.0	143.0					2																	219868963		2203	4300	6503	219577207	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5266G>T	2.37:g.219868963C>A	ENSP00000340776:p.Gly1756Trp		219577207	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	PatternScan_MGMT,superfamily_PapD-like	p.G1756W	ENST00000341552.5	37	c.5266	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	3.427	-0.116910	0.06838	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05139	3.49;3.49;3.49	0.95	-1.53	0.08611	.	2.524670	0.01534	N	0.018917	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	P	0.51933	0.949	B	0.43889	0.435	T	0.20042	-1.0287	10	0.66056	D	0.02	0.0015	4.285	0.10850	0.0:0.5229:0.0:0.4771	.	1756	Q6ZU64	CC108_HUMAN	W	1756	ENSP00000340776:G1756W;ENSP00000413377:G1756W;ENSP00000409117:G1756W	ENSP00000340776:G1756W	G	-	1	0	CCDC108	219577207	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.380000	0.07427	-0.631000	0.05560	-0.367000	0.07326	GGG	-	NULL		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219577207	-1	no_errors	NM_194302	genbank	human	provisional	54_36p	missense	SNP	0.000	A
OR14A16	284532	genome.wustl.edu	37	1	247978884	247978884	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:247978884C>A	ENST00000357627.1	-	1	147	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGATGATGGTCCAAAGTTGTG	0.398																																					Ovarian(112;180 1586 15073 21914 33526)											0			1											80.0	79.0	79.0					1																	247978884		2203	4300	6503	246045507	SO:0001583	missense	284532			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.148G>T	1.37:g.247978884C>A	ENSP00000350248:p.Asp50Tyr		246045507	Q6IF96	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.D50Y	ENST00000357627.1	37	c.148	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625394	0.46840	.	.	ENSG00000196772	ENST00000357627	T	0.02974	4.09	3.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.136606	0.32204	U	0.006439	T	0.22704	0.0548	H	0.97587	4.035	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.23904	-1.0175	10	0.87932	D	0	.	10.7528	0.46219	0.1904:0.8096:0.0:0.0	.	50	Q8NHC5	O14AG_HUMAN	Y	50	ENSP00000350248:D50Y	ENSP00000350248:D50Y	D	-	1	0	OR14A16	246045507	0.001000	0.12720	0.021000	0.16686	0.138000	0.21146	0.070000	0.14573	2.010000	0.58986	0.590000	0.80494	GAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.398	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	protein_coding	OTTHUMT00000096856.1	C	NM_001001966		246045507	-1	no_errors	NM_001001966	genbank	human	provisional	54_36p	missense	SNP	0.024	A
TP53	7157	genome.wustl.edu	37	17	7578395	7578400	+	In_Frame_Del	DEL	GGTGGG	GGTGGG	-	rs587780070		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	GGTGGG	GGTGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr17:7578395_7578400delGGTGGG	ENST00000269305.4	-	5	719_724	c.530_535delCCCACC	c.(529-537)ccccaccat>cat	p.PH177del	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.PH177del|TP53_ENST00000420246.2_In_Frame_Del_p.PH177del|TP53_ENST00000445888.2_In_Frame_Del_p.PH177del|TP53_ENST00000359597.4_In_Frame_Del_p.PH177del|TP53_ENST00000455263.2_In_Frame_Del_p.PH177del	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.P177R(18)|p.P177L(17)|p.H179N(16)|p.H178fs*69(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.H178Q(5)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.H85_S90delHHERCS(1)|p.P45R(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAGCGCCT	0.641		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"""	312	Substitution - Missense(216)|Deletion - Frameshift(40)|Deletion - In frame(27)|Substitution - coding silent(12)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)|Complex - compound substitution(1)	large_intestine(44)|skin(42)|upper_aerodigestive_tract(34)|lung(31)|breast(28)|haematopoietic_and_lymphoid_tissue(20)|ovary(19)|central_nervous_system(16)|stomach(15)|oesophagus(14)|liver(10)|endometrium(7)|bone(6)|urinary_tract(5)|pancreas(5)|prostate(4)|vulva(2)|genital_tract(2)|soft_tissue(2)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|biliary_tract(1)|thymus(1)	17	GRCh37	CD983489|CM067054	TP53	D|M	rs68130327																																			7519125	SO:0001651	inframe_deletion	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.530_535delCCCACC	17.37:g.7578395_7578400delGGTGGG	ENSP00000269305:p.Pro177_His178del		7519120	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.PH177in_frame_del	ENST00000269305.4	37	c.535_530	CCDS11118.1	17																																																																																			(deletion:cds_exon[7519096,7519279])	HMMPfam_P53,superfamily_p53-like transcription factors		0.641	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	GGTGGG	NM_000546		7519125	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.997:0.998:1.000	-
EPOR	2057	genome.wustl.edu	37	19	11489031	11489060	+	In_Frame_Del	DEL	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	-	rs281860299|rs199645071|rs35423344|rs192441411	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr19:11489031_11489060delGGAGGTCCTCACTGGGCGGGTTCCGGGGCA	ENST00000222139.6	-	8	1231_1260	c.1127_1156delTGCCCCGGAACCCGCCCAGTGAGGACCTCC	c.(1126-1158)ctgccccggaacccgcccagtgaggacctccca>cca	p.LPRNPPSEDL376del	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	376					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCAGGCCCTGGGAGGTCCTCACTGGGCGGGTTCCGGGGCAGCAACCATTT	0.63											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19																																								11350060	SO:0001651	inframe_deletion	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1127_1156delTGCCCCGGAACCCGCCCAGTGAGGACCTCC	19.37:g.11489031_11489060delGGAGGTCCTCACTGGGCGGGTTCCGGGGCA	ENSP00000222139:p.Leu376_Leu385del	672	11350031	B2RCG4|Q15443|Q2M205	In_Frame_Del	DEL	superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F1	p.LPRNPPSEDL376in_frame_del	ENST00000222139.6	37	c.1156_1127	CCDS12260.1	19																																																																																			(deletion:cds_exon[11349660,11350271])	NULL		0.630	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	protein_coding	OTTHUMT00000458791.1	GGAGGTCCTCACTGGGCGGGTTCCGGGGCA			11350060	-1	no_errors	NM_000121	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.000:0.001:0.007:0.007:0.006:0.005:0.017:0.177:0.104:0.096:0.004:0.003:0.001:0.001:0.001:0.000:0.002:0.133:0.167:0.135:0.131:0.176:0.198:0.240:0.732:0.970:0.995:0.995:0.995:0.995	-
GCKR	2646	genome.wustl.edu	37	2	27730593	27730601	+	In_Frame_Del	DEL	CTTCCCTCT	CTTCCCTCT	-			TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	CTTCCCTCT	CTTCCCTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr2:27730593_27730601delCTTCCCTCT	ENST00000264717.2	+	14	1252_1260	c.1189_1197delCTTCCCTCT	c.(1189-1197)cttccctctdel	p.LPS397del	GCKR_ENST00000424318.2_In_Frame_Del_p.LPS207del	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	397	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACTTCCATCCTTCCCTCTCTCACGGAAA	0.536																																																0			2																																								27584105	SO:0001651	inframe_deletion	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1189_1197delCTTCCCTCT	2.37:g.27730593_27730601delCTTCCCTCT	ENSP00000264717:p.Leu397_Ser399del		27584097	A1L4C2|B4DPQ2|Q53RY6|Q99522	In_Frame_Del	DEL	superfamily_SIS domain,PatternScan_GCKR	p.PSL398in_frame_del	ENST00000264717.2	37	c.1189_1197	CCDS1757.1	2																																																																																			(deletion:cds_exon[27584052,27584148])	superfamily_SIS domain		0.536	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	protein_coding	OTTHUMT00000250214.1	CTTCCCTCT	NM_001486		27584105	+1	no_errors	NM_001486	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.995:0.997:0.997:0.996:0.989:0.948:0.953:0.956:0.948	-
PODN	127435	genome.wustl.edu	37	1	53546529	53546543	+	In_Frame_Del	DEL	CTCAAGGGGATCTTT	CTCAAGGGGATCTTT	-	rs147003164		TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	CTCAAGGGGATCTTT	CTCAAGGGGATCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:53546529_53546543delCTCAAGGGGATCTTT	ENST00000312553.5	+	9	1793_1807	c.1786_1800delCTCAAGGGGATCTTT	c.(1786-1800)ctcaaggggatctttdel	p.LKGIF596del	PODN_ENST00000395871.2_In_Frame_Del_p.LKGIF454del|PODN_ENST00000371500.3_In_Frame_Del_p.LKGIF577del|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	548					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACGCCCAACCTCAAGGGGATCTTTCTCAGGTAGG	0.614																																																0			1																																								53319131	SO:0001651	inframe_deletion	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1786_1800delCTCAAGGGGATCTTT	1.37:g.53546529_53546543delCTCAAGGGGATCTTT	ENSP00000308315:p.Leu596_Phe600del		53319117	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	In_Frame_Del	DEL	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047	p.KGIFL597in_frame_del	ENST00000312553.5	37	c.1786_1800	CCDS573.1	1																																																																																			(deletion:cds_exon[53318988,53319136])	superfamily_SSF52047		0.614	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	protein_coding	OTTHUMT00000024735.1	CTCAAGGGGATCTTT	NM_153703		53319131	+1	no_errors	NM_153703	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.991:0.998:1.000:1.000:1.000:1.000:1.000	-
OR10J3	441911	genome.wustl.edu	37	1	159283873	159283910	+	Frame_Shift_Del	DEL	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	-	rs148881868|rs376626818|rs143263954	byFrequency	TCGA-09-1675-01B-01W-0633-09	TCGA-09-1675-10A-01W-0633-09	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	736114fa-92b0-47cf-8ada-45c45b07c3f5	ff6b0463-d32c-492e-b911-ca0cb1274916	g.chr1:159283873_159283910delTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	ENST00000332217.5	-	1	539_576	c.540_577delTGATGTGAGACACCTGCTGAAGCTGGCCTGCACAGACA	c.(538-579)tgtgatgtgagacacctgctgaagctggcctgcacagacaccfs	p.DVRHLLKLACTDT181fs		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C180*(1)|p.V182L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGACAGTGGTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCACAGAAGAAGT	0.492																																																2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)	1																																								157550534	SO:0001589	frameshift_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.540_577delTGATGTGAGACACCTGCTGAAGCTGGCCTGCACAGACA	1.37:g.159283873_159283910delTGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA	ENSP00000331789:p.Asp181fs		157550497		Frame_Shift_Del	DEL	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.D181fs	ENST00000332217.5	37	c.577_540	CCDS30909.1	1																																																																																			(deletion:cds_exon[157550084,157551073])	superfamily_SSF81321,HMMPfam_7tm_1		0.492	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	protein_coding	OTTHUMT00000090629.1	TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA			157550534	-1	no_errors	NM_001004467	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.091:0.060:0.061:0.023:0.000:0.000:0.000:0.039:0.988:1.000:0.994:0.993:0.977:0.981:0.999:0.999:0.925:0.919:0.917:0.856:0.870:0.789:0.622:0.632:0.002:0.001:0.027:0.026:0.003:0.003:0.000:0.001:0.133:0.144:0.179:0.977:0.997:0.998	-
