#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_BAM_File	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_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_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_default_gene_name	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_name_source	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
ABCC10	89845	genome.wustl.edu	37	6	43406530	43406530	+	Silent	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:43406530C>G	ENST00000372530.4	+	8	2339	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	ABCC10_ENST00000244533.3_Silent_p.L680L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ATGATGACCTCAGTGTGAGTG	0.517																																																	0													118.0	104.0	109.0					6																	43406530		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2124C>G	6.37:g.43406530C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L708	ENST00000372530.4	37	c.2124	CCDS56430.1	6																																																																																			ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.517	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43406530	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	silent	SNP	0.015	G
ACP1	52	genome.wustl.edu	37	2	272070	272070	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr2:272070G>C	ENST00000272065.5	+	3	244	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	ACP1_ENST00000407983.3_Missense_Mutation_p.E51Q|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000272067.6_Intron	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	51						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TTCCGGGTATGAGATAGGGAA	0.532																																																	0													99.0	95.0	97.0					2																	272070		2203	4300	6503	SO:0001583	missense	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.151G>C	2.37:g.272070G>C	ENSP00000272065:p.Glu51Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.E51Q	ENST00000272065.5	37	c.151	CCDS1639.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532576	0.64972	.	.	ENSG00000143727	ENST00000272065;ENST00000407983	T;T	0.47177	2.23;0.85	5.63	5.63	0.86233	Phosphotyrosine protein phosphatase I superfamily (3);	.	.	.	.	T	0.55337	0.1914	L	0.49455	1.56	0.80722	D	1	B;P	0.38223	0.231;0.623	B;P	0.46885	0.074;0.53	T	0.56323	-0.7998	9	0.72032	D	0.01	.	17.5236	0.87793	0.0:0.0:1.0:0.0	.	51;51	P24666;B5MCC7	PPAC_HUMAN;.	Q	51	ENSP00000272065:E51Q;ENSP00000385404:E51Q	ENSP00000272065:E51Q	E	+	1	0	ACP1	262070	1.000000	0.71417	0.797000	0.32132	0.985000	0.73830	9.394000	0.97261	2.797000	0.96272	0.655000	0.94253	GAG	ACP1	-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF		0.532	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	HGNC	protein_coding	OTTHUMT00000195862.3	G			272070	+1	no_errors	ENST00000272065	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTB	60	genome.wustl.edu	37	7	5568000	5568000	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:5568000C>G	ENST00000331789.5	-	4	905	c.714G>C	c.(712-714)aaG>aaC	p.K238N	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	238					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCTCGTAGCTCTTCTCCAGGG	0.597																																																	0													62.0	64.0	63.0					7																	5568000		2203	4300	6503	SO:0001583	missense	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.714G>C	7.37:g.5568000C>G	ENSP00000349960:p.Lys238Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K238N	ENST00000331789.5	37	c.714	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663417	0.67700	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94687	-3.49	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000009	D	0.97611	0.9217	M	0.90369	3.11	0.58432	D	0.999997	P	0.34780	0.468	P	0.53549	0.729	D	0.97887	1.0295	10	0.87932	D	0	.	18.1418	0.89642	0.0:1.0:0.0:0.0	.	238	P60709	ACTB_HUMAN	N	238;214;210;157	ENSP00000349960:K238N	ENSP00000440549:K157N	K	-	3	2	ACTB	5534526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.800000	0.69108	2.617000	0.88574	0.650000	0.86243	AAG	ACTB	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.597	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	C	NM_001101		5568000	-1	no_errors	ENST00000331789	ensembl	human	known	70_37	missense	SNP	1.000	G
ADA	100	genome.wustl.edu	37	20	43255112	43255112	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:43255112G>A	ENST00000372874.4	-	4	481	c.347C>T	c.(346-348)cCc>cTc	p.P116L	ADA_ENST00000537820.1_Missense_Mutation_p.P116L|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	116					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGGTTCCAGGGGATTGGCTC	0.592									Adenosine Deaminase Deficiency																																								0													124.0	92.0	103.0					20																	43255112		2203	4300	6503	SO:0001583	missense	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.347C>T	20.37:g.43255112G>A	ENSP00000361965:p.Pro116Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53F92|Q6LA59	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.P116L	ENST00000372874.4	37	c.347	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484011	0.63962	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95885	-3.84;-3.84	5.16	5.16	0.70880	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.73598	2.24	0.80722	D	1	B	0.33198	0.401	P	0.51582	0.674	D	0.97448	1.0026	10	0.72032	D	0.01	-6.7379	19.0171	0.92899	0.0:0.0:1.0:0.0	.	116	P00813	ADA_HUMAN	L	116	ENSP00000361965:P116L;ENSP00000441818:P116L	ENSP00000361965:P116L	P	-	2	0	ADA	42688526	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	6.018000	0.70811	2.561000	0.86390	0.655000	0.94253	CCC	ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase		0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	G	NM_000022		43255112	-1	no_errors	ENST00000372874	ensembl	human	known	70_37	missense	SNP	1.000	A
AFAP1L1	134265	genome.wustl.edu	37	5	148695471	148695471	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:148695471G>A	ENST00000296721.4	+	10	1206	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.D370N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	370						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACCTGTGATCACGGTAG	0.617																																																	0													63.0	58.0	59.0					5																	148695471		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1108G>A	5.37:g.148695471G>A	ENSP00000296721:p.Asp370Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D370N	ENST00000296721.4	37	c.1108	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245989	0.39697	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11930	2.73;2.73	5.72	4.86	0.63082	.	0.420897	0.27650	N	0.018432	T	0.19046	0.0457	L	0.43152	1.355	0.41232	D	0.98658	P;B	0.36616	0.561;0.321	B;B	0.43916	0.436;0.063	T	0.02004	-1.1231	10	0.87932	D	0	-4.6286	13.2107	0.59822	0.0737:0.0:0.9263:0.0	.	370;370	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	370	ENSP00000296721:D370N;ENSP00000424427:D370N	ENSP00000296721:D370N	D	+	1	0	AFAP1L1	148675664	1.000000	0.71417	0.885000	0.34714	0.006000	0.05464	7.280000	0.78610	1.427000	0.47276	-0.291000	0.09656	GAT	AFAP1L1	-	NULL		0.617	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	G	NM_152406		148695471	+1	no_errors	ENST00000296721	ensembl	human	known	70_37	missense	SNP	0.914	A
AKAP3	10566	genome.wustl.edu	37	12	4737915	4737915	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr12:4737915C>T	ENST00000545990.2	-	5	677	c.153G>A	c.(151-153)aaG>aaA	p.K51K	AKAP3_ENST00000228850.1_Silent_p.K51K|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	51					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTGCTGTACTCTTCTCCAGGT	0.473																																																	0													63.0	57.0	59.0					12																	4737915		2203	4300	6503	SO:0001819	synonymous_variant	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.153G>A	12.37:g.4737915C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.K51	ENST00000545990.2	37	c.153	CCDS8531.1	12																																																																																			AKAP3	-	smart_AKAP_110		0.473	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4737915	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	silent	SNP	0.920	T
BSN	8927	genome.wustl.edu	37	3	49694574	49694574	+	Missense_Mutation	SNP	C	C	T	rs200351851		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr3:49694574C>T	ENST00000296452.4	+	5	7699	c.7585C>T	c.(7585-7587)Cgg>Tgg	p.R2529W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2529					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTGCTGCACCGGGGTCTCCC	0.627																																																	0													43.0	42.0	43.0					3																	49694574		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7585C>T	3.37:g.49694574C>T	ENSP00000296452:p.Arg2529Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R2529W	ENST00000296452.4	37	c.7585	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	7.087	0.571489	0.13623	.	.	ENSG00000164061	ENST00000296452	T	0.21932	1.98	5.58	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.55481	1.735	0.35868	D	0.828003	D	0.89917	1.0	D	0.67548	0.952	T	0.52953	-0.8506	10	0.87932	D	0	-21.0185	13.0839	0.59129	0.4578:0.5422:0.0:0.0	.	2529	Q9UPA5	BSN_HUMAN	W	2529	ENSP00000296452:R2529W	ENSP00000296452:R2529W	R	+	1	2	BSN	49669578	0.461000	0.25783	0.995000	0.50966	0.984000	0.73092	-0.008000	0.12788	1.307000	0.44944	0.561000	0.74099	CGG	BSN	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49694574	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.469	T
C11orf30	56946	genome.wustl.edu	37	11	76253261	76253261	+	Splice_Site	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:76253261C>T	ENST00000529032.1	+	17	2559	c.2559C>T	c.(2557-2559)gtC>gtT	p.V853V	C11orf30_ENST00000343878.3_Splice_Site_p.V853V|C11orf30_ENST00000525919.1_Splice_Site_p.V854V|C11orf30_ENST00000334736.3_Splice_Site_p.V853V|C11orf30_ENST00000533248.1_Silent_p.V762V|C11orf30_ENST00000524767.1_Splice_Site_p.V868V|C11orf30_ENST00000525038.1_Splice_Site_p.V854V|C11orf30_ENST00000524490.1_Splice_Site_p.V755V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	853					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TATTTTCAGTCAGCCATCGCT	0.507																																																	0													122.0	127.0	125.0					11																	76253261		2200	4292	6492	SO:0001630	splice_region_variant	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2558-1C>T	11.37:g.76253261C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	pfam_ENT_N,pfscan_ENT_N	p.V853	ENST00000529032.1	37	c.2559	CCDS8244.1	11																																																																																			C11orf30	-	NULL		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193	Silent	76253261	+1	no_errors	ENST00000334736	ensembl	human	known	70_37	silent	SNP	0.997	T
C14orf182	283551	genome.wustl.edu	37	14	50470652	50470652	+	5'UTR	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:50470652C>T	ENST00000529902.1	-	0	2585				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						ccagagagatcagattccagg	0.468																																																	0																																										SO:0001623	5_prime_UTR_variant	283551			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-1694G>A	14.37:g.50470652C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYX4	RNA	SNP	-	NULL	ENST00000529902.1	37	NULL		14																																																																																			C14orf182	-	-		0.468	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	HGNC	protein_coding	OTTHUMT00000395721.1	C	NM_001012706		50470652	-1	no_errors	ENST00000529902	ensembl	human	known	70_37	rna	SNP	0.002	T
ERICH3	127254	genome.wustl.edu	37	1	75038598	75038598	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:75038598C>T	ENST00000326665.5	-	14	3014	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		932	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACCCTCAGCCTCTCCCTCCT	0.542																																																	0													132.0	135.0	134.0					1																	75038598		2203	4300	6503	SO:0001819	synonymous_variant	127254																														ENST00000326665.5:c.2796G>A	1.37:g.75038598C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.E932	ENST00000326665.5	37	c.2796	CCDS30755.1	1																																																																																			C1orf173	-	NULL		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038598	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	silent	SNP	0.000	T
CAPN8	388743	genome.wustl.edu	37	1	223815838	223815838	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:223815838G>T	ENST00000366873.2	-	4	509	c.433C>A	c.(433-435)Cag>Aag	p.Q145K	CAPN8_ENST00000366872.5_Missense_Mutation_p.Q145K			A6NHC0	CAN8_HUMAN	calpain 8	145	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						TCTCCGTACTGCCAGAACTGG	0.572																																																	0													38.0	35.0	36.0					1																	223815838		692	1591	2283	SO:0001583	missense	388743				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366873.2:c.433C>A	1.37:g.223815838G>T	ENSP00000355838:p.Gln145Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Q145K	ENST00000366873.2	37	c.433		1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067932	0.76301	.	.	ENSG00000203697	ENST00000366872;ENST00000419193;ENST00000366873	D;D;D	0.86694	-2.16;-2.16;-2.16	4.82	3.89	0.44902	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91509	0.7319	M	0.79011	2.435	0.80722	D	1	D	0.69078	0.997	P	0.58013	0.831	D	0.92221	0.5784	10	0.87932	D	0	.	13.9263	0.63964	0.0:0.0:0.8463:0.1537	.	145	A6NHC0	CAN8_HUMAN	K	145	ENSP00000355837:Q145K;ENSP00000401665:Q145K;ENSP00000355838:Q145K	ENSP00000355837:Q145K	Q	-	1	0	CAPN8	221882461	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	7.924000	0.87555	0.987000	0.38709	0.561000	0.74099	CAG	CAPN8	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.572	CAPN8-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CAPN8	HGNC	protein_coding	OTTHUMT00000171394.3	G	NM_001143962		223815838	-1	no_errors	ENST00000366872	ensembl	human	known	70_37	missense	SNP	1.000	T
CASP8	841	genome.wustl.edu	37	2	202137499	202137499	+	Splice_Site	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr2:202137499G>C	ENST00000432109.2	+	5	739	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CASP8_ENST00000264274.9_Splice_Site_p.G184R|CASP8_ENST00000392258.3_Splice_Site_p.E184Q|CASP8_ENST00000264275.5_Splice_Site_p.G216R|CASP8_ENST00000358485.4_Splice_Site_p.E243Q|CASP8_ENST00000323492.7_Splice_Site_p.G184R|CASP8_ENST00000392259.2_Splice_Site_p.E184Q|CASP8_ENST00000392266.3_Splice_Site_p.D184H	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	184					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATTCAGCAAAGGTAGAAACAA	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													111.0	113.0	112.0					2																	202137499		2203	4300	6503	SO:0001630	splice_region_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.550+1G>C	2.37:g.202137499G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E243Q	ENST00000432109.2	37	c.727	CCDS2342.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.04|11.04|11.04	1.522800|1.522800|1.522800	0.27211|0.27211|0.27211	.|.|.	.|.|.	ENSG00000064012|ENSG00000064012|ENSG00000064012	ENST00000392266;ENST00000447616;ENST00000424461|ENST00000392259;ENST00000432109;ENST00000392258;ENST00000358485;ENST00000413726|ENST00000392263;ENST00000264274;ENST00000264275;ENST00000450491;ENST00000392261;ENST00000323492;ENST00000444430	D;D;D|D;T;D;T;D|T;D;D;D;T;D	0.82619|0.82893|0.82711	-1.63;-1.63;-1.63|-1.66;4.36;-1.66;4.33;-1.66|4.37;-1.64;-1.64;-1.64;4.37;-1.64	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|DEATH-like (2);|.	.|1.422880|.	.|0.04149|.	.|N|.	.|0.321025|.	T|T|T	0.71970|0.71970|0.71970	0.3403|0.3403|0.3403	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.21627|0.21627|0.21627	N|N|N	0.999619|0.999619|0.999619	P|P;D;B;P|B;B;B;B	0.36315|0.54964|0.24882	0.547|0.933;0.969;0.105;0.744|0.023;0.007;0.005;0.113	B|P;P;B;B|B;B;B;B	0.31101|0.51385|0.28232	0.124|0.668;0.668;0.034;0.361|0.011;0.004;0.008;0.087	T|T|T	0.64888|0.64888|0.64888	-0.6301|-0.6301|-0.6301	9|10|9	0.48119|0.15066|0.52906	T|T|T	0.1|0.55|0.07	.|.|.	15.4272|15.4272|15.4272	0.75061|0.75061|0.75061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	184|184;243;184;184|184;184;184;216	Q14790-6|Q14790-7;Q14790-9;Q14790;Q14790-5|Q14790-3;A8MU92;Q14790-2;Q14790-4	.|.;.;CASP8_HUMAN;.|.;.;.;.	H|Q|R	184;184;47|184;184;184;243;184|184;184;216;81;184;184;47	ENSP00000376094:D184H;ENSP00000388306:D184H;ENSP00000390346:D47H|ENSP00000376088:E184Q;ENSP00000412523:E184Q;ENSP00000376087:E184Q;ENSP00000351273:E243Q;ENSP00000397528:E184Q|ENSP00000376091:G184R;ENSP00000264274:G184R;ENSP00000264275:G216R;ENSP00000391709:G81R;ENSP00000325722:G184R;ENSP00000394434:G47R	ENSP00000376094:D184H|ENSP00000351273:E243Q|ENSP00000264274:G184R	D|E|G	+|+|+	1|1|1	0|0|0	CASP8|CASP8|CASP8	201845744|201845744|201845744	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.990000|0.990000|0.990000	0.47175|0.47175|0.47175	0.032000|0.032000|0.032000	0.12392|0.12392|0.12392	4.065000|4.065000|4.065000	0.57513|0.57513|0.57513	2.714000|2.714000|2.714000	0.92807|0.92807|0.92807	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|GAG|GGG	CASP8	-	superfamily_DEATH-like		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	G	NM_001228	Missense_Mutation	202137499	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	1.000	C
CD70	970	genome.wustl.edu	37	19	6586084	6586084	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:6586084G>A	ENST00000245903.3	-	3	678	c.529C>T	c.(529-531)Cct>Tct	p.P177S	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TTTCGGGAAGGCAAAAGTGTC	0.517																																					Pancreas(183;2617 2876 10173 34193)												0													66.0	54.0	58.0					19																	6586084		2203	4300	6503	SO:0001583	missense	970			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.529C>T	19.37:g.6586084G>A	ENSP00000245903:p.Pro177Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.P177S	ENST00000245903.3	37	c.529	CCDS12170.1	19	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957563	0.53400	.	.	ENSG00000125726	ENST00000245903	D	0.94138	-3.36	4.42	1.88	0.25563	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.285294	0.25154	N	0.032723	D	0.91327	0.7265	L	0.34521	1.04	0.09310	N	1	D	0.60575	0.988	P	0.56823	0.807	D	0.83652	0.0156	10	0.87932	D	0	.	6.6485	0.22949	0.0:0.2308:0.5815:0.1878	.	177	P32970	CD70_HUMAN	S	177	ENSP00000245903:P177S	ENSP00000245903:P177S	P	-	1	0	CD70	6537084	0.939000	0.31865	0.043000	0.18650	0.010000	0.07245	2.500000	0.45381	0.954000	0.37851	0.556000	0.70494	CCT	CD70	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF		0.517	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD70	HGNC	protein_coding	OTTHUMT00000457860.1	G			6586084	-1	no_errors	ENST00000245903	ensembl	human	known	70_37	missense	SNP	0.017	A
CDC16	8881	genome.wustl.edu	37	13	115012590	115012591	+	Intron	INS	-	-	T	rs5807004		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr13:115012590_115012591insT	ENST00000356221.3	+	11	1079				CDC16_ENST00000375312.3_Intron|CDC16_ENST00000360383.3_Intron|CDC16_ENST00000375308.1_Intron|CDC16_ENST00000252458.6_Intron|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000252457.5_Intron|CDC16_ENST00000375310.1_Intron			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGAATAAATGttttttttttt	0.351																																																	0																																										SO:0001627	intron_variant	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.971+111->T	13.37:g.115012601_115012601dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A365|Q5T8C8|Q96AE6|Q9Y564	RNA	INS	-	NULL	ENST00000356221.3	37	NULL	CCDS9542.2	13																																																																																			CDC16	-	-		0.351	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1	-	NM_003903		115012591	+1	no_errors	ENST00000494581	ensembl	human	known	70_37	rna	INS	0.000:0.004	T
CHST8	64377	genome.wustl.edu	37	19	34263476	34263476	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:34263476C>T	ENST00000262622.4	+	4	1541	c.783C>T	c.(781-783)ttC>ttT	p.F261F	CHST8_ENST00000438847.3_Silent_p.F261F|CHST8_ENST00000434302.1_Silent_p.F261F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	261					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGAGCCCTTCGAGAGGCTGG	0.612																																																	0													103.0	96.0	98.0					19																	34263476		2203	4300	6503	SO:0001819	synonymous_variant	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.783C>T	19.37:g.34263476C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.F261	ENST00000262622.4	37	c.783	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	C	NM_022467		34263476	+1	no_errors	ENST00000262622	ensembl	human	known	70_37	silent	SNP	0.997	T
CIITA	4261	genome.wustl.edu	37	16	11009489	11009489	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:11009489C>T	ENST00000324288.8	+	14	3084	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	CIITA_ENST00000381835.5_Missense_Mutation_p.S400F	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	984			Missing (in BLS2).		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACGGCCTTTTCCTCCCTGCAG	0.572			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													96.0	89.0	92.0					16																	11009489		2197	4300	6497	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2951C>T	16.37:g.11009489C>T	ENSP00000316328:p.Ser984Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S984F	ENST00000324288.8	37	c.2951	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588064	0.46110	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.54675	0.56;0.56	4.6	3.63	0.41609	.	0.609926	0.15603	N	0.253816	T	0.63768	0.2539	L	0.46157	1.445	0.24816	N	0.992614	D;P;P	0.71674	0.998;0.952;0.923	D;P;P	0.68483	0.958;0.878;0.722	T	0.55003	-0.8208	10	0.66056	D	0.02	.	11.9598	0.53001	0.0:0.8253:0.1747:0.0	.	400;984;984	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	F	984;400	ENSP00000316328:S984F;ENSP00000371257:S400F	ENSP00000316328:S984F	S	+	2	0	CIITA	10916990	0.257000	0.24022	0.900000	0.35374	0.518000	0.34316	2.061000	0.41403	1.130000	0.42092	0.655000	0.94253	TCC	CIITA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.572	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11009489	+1	no_errors	ENST00000324288	ensembl	human	known	70_37	missense	SNP	0.967	T
CLPTM1L	81037	genome.wustl.edu	37	5	1341804	1341804	+	Silent	SNP	G	G	A	rs566053718		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:1341804G>A	ENST00000320895.5	-	3	692	c.435C>T	c.(433-435)acC>acT	p.T145T	CLPTM1L_ENST00000507807.1_Silent_p.T12T|CLPTM1L_ENST00000320927.6_Silent_p.T145T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	145					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T145T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CAGACTCCCCGGTGAGCAGGT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		17994	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	endometrium(1)											115.0	105.0	108.0					5																	1341804		2203	4300	6503	SO:0001819	synonymous_variant	81037			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.435C>T	5.37:g.1341804G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	pfam_CLPTM1	p.T145	ENST00000320895.5	37	c.435	CCDS3862.1	5																																																																																			CLPTM1L	-	pfam_CLPTM1		0.577	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	G	NM_030782		1341804	-1	no_errors	ENST00000320895	ensembl	human	known	70_37	silent	SNP	0.004	A
CST4	1472	genome.wustl.edu	37	20	23666568	23666568	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:23666568C>T	ENST00000217423.3	-	3	459	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	130					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CAGGGACATTCTGTCCTCCCA	0.547																																																	0													108.0	99.0	102.0					20																	23666568		2203	4300	6503	SO:0001583	missense	1472				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.389G>A	20.37:g.23666568C>T	ENSP00000217423:p.Arg130Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R130K	ENST00000217423.3	37	c.389	CCDS13159.1	20	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.735665	0.00681	.	.	ENSG00000101441	ENST00000217423	T	0.12569	2.67	1.94	-0.703	0.11261	Proteinase inhibitor I25, cystatin (1);	1.144480	0.06519	N	0.739312	T	0.03095	0.0091	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.02654	T	1	.	3.2987	0.06975	0.0:0.2401:0.3861:0.3738	.	130	P01036	CYTS_HUMAN	K	130	ENSP00000217423:R130K	ENSP00000217423:R130K	R	-	2	0	CST4	23614568	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.815000	0.00752	-0.151000	0.11176	0.205000	0.17691	AGA	CST4	-	smart_Prot_inh_cystat		0.547	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST4	HGNC	protein_coding	OTTHUMT00000078349.2	C	NM_001899		23666568	-1	no_errors	ENST00000217423	ensembl	human	known	70_37	missense	SNP	0.001	T
CTNNAL1	8727	genome.wustl.edu	37	9	111775718	111775718	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:111775718G>T	ENST00000325551.4	-	1	91	c.5C>A	c.(4-6)gCc>gAc	p.A2D	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.A2D|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A2D|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.A2D	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	2					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGGAGAGGCGGCCATGGCCCT	0.746																																																	0													3.0	4.0	4.0					9																	111775718		1652	3413	5065	SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.5C>A	9.37:g.111775718G>T	ENSP00000320434:p.Ala2Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A2D	ENST00000325551.4	37	c.5	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439682	0.43326	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.68765	1.53;1.64;1.52;-0.35	3.82	3.82	0.43975	.	0.000000	0.40144	N	0.001171	T	0.45677	0.1354	N	0.08118	0	0.37305	D	0.908868	B;B;B	0.23058	0.048;0.079;0.048	B;B;B	0.21546	0.015;0.035;0.015	T	0.54682	-0.8257	10	0.87932	D	0	-4.838	11.0862	0.48089	0.0:0.0:1.0:0.0	.	2;2;2	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	D	2	ENSP00000363723:A2D;ENSP00000320434:A2D;ENSP00000323351:A2D;ENSP00000363721:A2D	ENSP00000320434:A2D	A	-	2	0	CTNNAL1	110815539	1.000000	0.71417	0.994000	0.49952	0.107000	0.19398	1.855000	0.39378	1.942000	0.56320	0.561000	0.74099	GCC	CTNNAL1	-	NULL		0.746	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	G	NM_003798		111775718	-1	no_errors	ENST00000325551	ensembl	human	known	70_37	missense	SNP	0.991	T
CUL1	8454	genome.wustl.edu	37	7	148495070	148495070	+	Silent	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:148495070G>A	ENST00000325222.4	+	19	2268	c.1989G>A	c.(1987-1989)ttG>ttA	p.L663L	CUL1_ENST00000602748.1_Silent_p.L663L|CUL1_ENST00000409469.1_Silent_p.L663L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	663					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGGTGGAATTGAAGCCAGATA	0.368																																																	0													55.0	55.0	55.0					7																	148495070		2203	4300	6503	SO:0001819	synonymous_variant	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1989G>A	7.37:g.148495070G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L663	ENST00000325222.4	37	c.1989	CCDS34772.1	7																																																																																			CUL1	-	superfamily_Cullin_homology		0.368	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148495070	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	silent	SNP	1.000	A
CUTA	51596	genome.wustl.edu	37	6	33384740	33384740	+	Missense_Mutation	SNP	T	T	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:33384740T>G	ENST00000488034.1	-	5	491	c.370A>C	c.(370-372)Aaa>Caa	p.K124Q	CUTA_ENST00000494751.1_Missense_Mutation_p.K101Q|CUTA_ENST00000488478.1_Intron|CUTA_ENST00000374496.3_Missense_Mutation_p.K101Q|CUTA_ENST00000440279.3_Missense_Mutation_p.K101Q|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.K143Q|CUTA_ENST00000607266.1_Missense_Mutation_p.K101Q	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	124					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CTTTGGGTTTTAATCATCTAA	0.468																																																	0													119.0	122.0	121.0					6																	33384740		2203	4300	6503	SO:0001583	missense	51596			AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.370A>C	6.37:g.33384740T>G	ENSP00000417544:p.Lys124Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.K143Q	ENST00000488034.1	37	c.427	CCDS34433.1	6	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339368	0.81911	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000374496	.	.	.	4.66	4.66	0.58398	Nitrogen regulatory PII-like, alpha/beta (1);	0.048552	0.85682	D	0.000000	D	0.84474	0.5480	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88579	0.3135	9	0.87932	D	0	-12.0176	10.4082	0.44276	0.0:0.0:0.0:1.0	.	143;124	O60888-2;O60888	.;CUTA_HUMAN	Q	143;101;124;101;101	.	ENSP00000363620:K101Q	K	-	1	0	CUTA	33492718	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.005000	0.63972	1.952000	0.56665	0.459000	0.35465	AAA	CUTA	-	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b		0.468	CUTA-008	KNOWN	basic|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076541.3	T	NM_015921		33384740	-1	no_errors	ENST00000374500	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAJC7	7266	genome.wustl.edu	37	17	40133891	40133891	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:40133891C>T	ENST00000457167.4	-	12	1602	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	DNAJC7_ENST00000426588.3_Missense_Mutation_p.E400K|DNAJC7_ENST00000316603.7_Missense_Mutation_p.E400K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	456					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TTCATGCCCTCCTCATCTAGG	0.483																																					Colon(63;618 1117 8600 10857 19751)												0													148.0	140.0	143.0					17																	40133891		1965	4154	6119	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1366G>A	17.37:g.40133891C>T	ENSP00000406463:p.Glu456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z784	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E456K	ENST00000457167.4	37	c.1366	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058011	0.76074	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.42900	1.22;0.96;0.96	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (2);	0.359114	0.32204	N	0.006427	T	0.25044	0.0608	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.002;0.008	B;B	0.17098	0.01;0.017	T	0.13255	-1.0516	10	0.07325	T	0.83	-7.2285	19.3043	0.94155	0.0:1.0:0.0:0.0	.	400;456	Q7Z784;Q99615	.;DNJC7_HUMAN	K	456;400;400	ENSP00000406463:E456K;ENSP00000394327:E400K;ENSP00000313311:E400K	ENSP00000313311:E400K	E	-	1	0	DNAJC7	37387417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.548000	0.85928	0.655000	0.94253	GAG	DNAJC7	-	superfamily_DnaJ_N		0.483	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	C			40133891	-1	no_errors	ENST00000457167	ensembl	human	known	70_37	missense	SNP	1.000	T
DPY19L2P1	554236	genome.wustl.edu	37	7	35189789	35189789	+	IGR	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:35189789C>T								DPY19L2P1 (42443 upstream) : TBX20 (52252 downstream)																							TCCTCTACAGCCTCTTCTATT	0.338																																																	0																																										SO:0001628	intergenic_variant	554236																															7.37:g.35189789C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			DPY19L2P1	-	-	0	0.338					DPY19L2P1	HGNC			C			35189789	-1	no_errors	ENST00000458672	ensembl	human	known	70_37	rna	SNP	0.001	T
DYNLRB1	83658	genome.wustl.edu	37	20	33128384	33128384	+	Splice_Site	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:33128384G>T	ENST00000357156.2	+	4	297		c.e4-1		DYNLRB1_ENST00000480759.1_Splice_Site|DYNLRB1_ENST00000374846.3_Splice_Site	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CTCTTTTGCAGATAAAGACTA	0.333																																																	0													69.0	65.0	66.0					20																	33128384		2203	4300	6503	SO:0001630	splice_region_variant	83658			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.248-1G>T	20.37:g.33128384G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Splice_Site	SNP	-	e4-1	ENST00000357156.2	37	c.248-1	CCDS13235.1	20	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591067	0.86851	.	.	ENSG00000125971	ENST00000357156;ENST00000374846	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2174	0.93783	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNLRB1	32592045	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.894000	0.92506	2.616000	0.88540	0.655000	0.94253	.	DYNLRB1	-	-		0.333	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	G	NM_014183	Intron	33128384	+1	no_errors	ENST00000357156	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MT-ND1	4535	genome.wustl.edu	37	M	1351	1351	+	5'Flank	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrM:1351G>T	ENST00000361390.2	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCCATGAGGTGGCAAGAAAT	0.458																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1351G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.458	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		G	YP_003024026		1351	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	T
AL132819.1	0	genome.wustl.edu	37	14	99828697	99828697	+	RNA	SNP	T	T	A	rs563783884		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:99828697T>A	ENST00000401354.1	+	0	70																											tctctctctctcACACACACA	0.502																																																	0													94.0	88.0	90.0					14																	99828697		692	1591	2283			0																															14.37:g.99828697T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000401354.1	37	NULL		14																																																																																			AL132819.1	-	-		0.502	AL132819.1-201	NOVEL	basic	miRNA	ENSG00000216173	Clone_based_ensembl_gene	miRNA		T			99828697	+1	no_errors	ENST00000401354	ensembl	human	novel	70_37	rna	SNP	0.000	A
AC002485.1	0	genome.wustl.edu	37	6	67069361	67069362	+	RNA	DEL	AC	AC	-			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:67069361_67069362delAC	ENST00000408354.1	+	0	44_45																											GTATGCAAATacacacacacac	0.411																																																	0																																												0																															6.37:g.67069371_67069372delAC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000408354.1	37	NULL		6																																																																																			AC002485.1	-	-		0.411	AC002485.1-201	NOVEL	basic	miRNA	ENSG00000221281	Clone_based_ensembl_gene	miRNA		AC			67069362	+1	no_errors	ENST00000408354	ensembl	human	novel	70_37	rna	DEL	0.000:0.000	-
STX5	6811	genome.wustl.edu	37	11	62575156	62575156	+	Intron	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:62575156C>T	ENST00000294179.3	-	11	1062				STX5_ENST00000394690.1_Intron|STX5_ENST00000541317.1_Intron|NXF1_ENST00000439713.2_5'Flank|NXF1_ENST00000294172.2_5'Flank|NXF1_ENST00000531709.2_5'Flank|NXF1_ENST00000531131.1_5'Flank|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000532297.1_5'Flank|STX5_ENST00000377897.4_Intron	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5						ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						AAAAAGAATGCTGTTGAAGTC	0.438																																																	0																																										SO:0001627	intron_variant	0			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.909-56G>A	11.37:g.62575156C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	RNA	SNP	-	NULL	ENST00000294179.3	37	NULL	CCDS8038.2	11																																																																																			RP11-727F15.13	-	-		0.438	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269463	Clone_based_vega_gene	protein_coding	OTTHUMT00000290113.1	C	NM_003164		62575156	-1	no_errors	ENST00000596971	ensembl	human	known	70_37	rna	SNP	0.000	T
ETV2	2116	genome.wustl.edu	37	19	36134313	36134313	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:36134313G>A	ENST00000403402.1	+	4	679	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ETV2_ENST00000402764.2_Missense_Mutation_p.E125K|ETV2_ENST00000479824.1_Missense_Mutation_p.E32K|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.E153K			O00321	ETV2_HUMAN	ets variant 2	125					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCGGCTCCGAAGGCGCCGC	0.751																																																	0													2.0	3.0	3.0					19																	36134313		1584	3292	4876	SO:0001583	missense	2116			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.373G>A	19.37:g.36134313G>A	ENSP00000385369:p.Glu125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E125K	ENST00000403402.1	37	c.373	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	g	16.71	3.198503	0.58126	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.21932	1.98;1.99;1.99	4.84	1.53	0.23141	.	53.534100	0.00166	N	0.000000	T	0.12092	0.0294	N	0.24115	0.695	0.09310	N	1	P;P;P	0.43352	0.804;0.804;0.804	B;B;B	0.27170	0.062;0.077;0.062	T	0.23833	-1.0177	10	0.56958	D	0.05	.	4.7388	0.13003	0.1939:0.179:0.6272:0.0	.	124;153;125	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	K	153;125;125;125	ENSP00000368312:E153K;ENSP00000384524:E125K;ENSP00000385369:E125K	ENSP00000368307:E125K	E	+	1	0	ETV2	40826153	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.927000	0.28818	0.255000	0.21593	0.556000	0.70494	GAA	ETV2	-	NULL		0.751	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	G	XM_209182		36134313	+1	no_errors	ENST00000402764	ensembl	human	known	70_37	missense	SNP	0.000	A
EZH2	2146	genome.wustl.edu	37	7	148523576	148523576	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:148523576C>G	ENST00000460911.1	-	8	965	c.877G>C	c.(877-879)Gac>Cac	p.D293H	EZH2_ENST00000541220.1_Missense_Mutation_p.D284H|EZH2_ENST00000350995.2_Missense_Mutation_p.D254H|EZH2_ENST00000476773.1_Missense_Mutation_p.D284H|EZH2_ENST00000536783.1_Missense_Mutation_p.D184H|EZH2_ENST00000478654.1_Missense_Mutation_p.D284H|EZH2_ENST00000483967.1_Missense_Mutation_p.D284H|EZH2_ENST00000320356.2_Missense_Mutation_p.D293H			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	293	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGGAAGCAGTCATATTTAAAA	0.363			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													141.0	118.0	125.0					7																	148523576		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.877G>C	7.37:g.148523576C>G	ENSP00000419711:p.Asp293His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D293H	ENST00000460911.1	37	c.877	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	c	26.2	4.719345	0.89205	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;0.999;1.0;0.999	D	0.96480	0.9355	10	0.87932	D	0	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	293;284;284;293;254;293	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	H	284;293;293;254;284;284;284;184	ENSP00000417062:D284H;ENSP00000320147:D293H;ENSP00000419711:D293H;ENSP00000223193:D254H;ENSP00000443219:D284H;ENSP00000419050:D284H;ENSP00000419856:D284H;ENSP00000439305:D184H	ENSP00000320147:D293H	D	-	1	0	EZH2	148154509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.582000	0.87167	0.591000	0.81541	GAC	EZH2	-	NULL		0.363	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148523576	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM151B	167555	genome.wustl.edu	37	5	79809458	79809458	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:79809458C>G	ENST00000282226.4	+	3	342	c.187C>G	c.(187-189)Cca>Gca	p.P63A	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	63										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGTCCTTCTTCCAAGTGATGG	0.443																																																	0													107.0	98.0	101.0					5																	79809458		2203	4300	6503	SO:0001583	missense	167555				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.187C>G	5.37:g.79809458C>G	ENSP00000282226:p.Pro63Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRE4	Missense_Mutation	SNP	pfam_DUF2181	p.P63A	ENST00000282226.4	37	c.187	CCDS4051.1	5	.	.	.	.	.	.	.	.	.	.	C	1.574	-0.533470	0.04082	.	.	ENSG00000152380	ENST00000282226	T	0.10668	2.85	6.04	2.27	0.28462	.	0.149838	0.64402	N	0.000020	T	0.07999	0.0200	L	0.46157	1.445	0.22412	N	0.999122	B	0.09022	0.002	B	0.08055	0.003	T	0.41770	-0.9490	10	0.10377	T	0.69	-16.9088	6.8267	0.23887	0.0:0.6403:0.1373:0.2224	.	63	Q6UXP7	F151B_HUMAN	A	63	ENSP00000282226:P63A	ENSP00000282226:P63A	P	+	1	0	FAM151B	79845214	0.991000	0.36638	0.382000	0.26119	0.369000	0.29798	0.332000	0.19751	0.438000	0.26450	-0.251000	0.11542	CCA	FAM151B	-	pfam_DUF2181		0.443	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151B	HGNC	protein_coding	OTTHUMT00000254072.1	C	NM_205548		79809458	+1	no_errors	ENST00000282226	ensembl	human	known	70_37	missense	SNP	0.546	G
FAM179B	23116	genome.wustl.edu	37	14	45464961	45464961	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:45464961G>A	ENST00000361577.3	+	2	2273	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.D687N|FAM179B_ENST00000361462.2_Missense_Mutation_p.D687N	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	687										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCAACATATGATTTCATCCC	0.274																																																	0													61.0	60.0	60.0					14																	45464961		2201	4297	6498	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2059G>A	14.37:g.45464961G>A	ENSP00000355045:p.Asp687Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D687N	ENST00000361577.3	37	c.2059	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983215	0.74474	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.42	5.42	0.78866	Armadillo-type fold (1);	0.151334	0.44097	D	0.000498	T	0.04861	0.0131	L	0.27053	0.805	0.36892	D	0.889955	B;P;B;B	0.39759	0.42;0.687;0.2;0.42	B;B;B;B	0.39503	0.128;0.301;0.051;0.128	T	0.47071	-0.9145	10	0.45353	T	0.12	-11.187	11.4663	0.50241	0.084:0.0:0.916:0.0	.	687;687;687;687	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	N	687;687;687;687;6	ENSP00000355045:D687N;ENSP00000354917:D687N;ENSP00000371668:D687N;ENSP00000451141:D6N	ENSP00000354917:D687N	D	+	1	0	FAM179B	44534711	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.116000	0.57871	2.554000	0.86153	0.585000	0.79938	GAT	FAM179B	-	superfamily_ARM-type_fold		0.274	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	G	XM_113781		45464961	+1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	0.993	A
FBXO34	55030	genome.wustl.edu	37	14	55818715	55818715	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:55818715C>G	ENST00000313833.4	+	2	1852	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	FBXO34_ENST00000440021.1_Missense_Mutation_p.S536C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	536										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTGCCAGCCTCTTCTGTGGAA	0.502																																																	0													128.0	125.0	126.0					14																	55818715		2203	4300	6503	SO:0001583	missense	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1607C>G	14.37:g.55818715C>G	ENSP00000313159:p.Ser536Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S536C	ENST00000313833.4	37	c.1607	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	C	6.780	0.512908	0.12944	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20069	2.1;2.1	5.49	2.71	0.32032	.	0.587434	0.14937	N	0.289747	T	0.28366	0.0701	M	0.62723	1.935	0.09310	N	1	D	0.60575	0.988	P	0.49752	0.621	T	0.09997	-1.0649	10	0.72032	D	0.01	-10.3532	8.0027	0.30306	0.1311:0.7331:0.0:0.1357	.	536	Q9NWN3	FBX34_HUMAN	C	536	ENSP00000313159:S536C;ENSP00000394117:S536C	ENSP00000313159:S536C	S	+	2	0	FBXO34	54888468	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.833000	0.39161	0.442000	0.26555	0.655000	0.94253	TCT	FBXO34	-	NULL		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	C			55818715	+1	no_errors	ENST00000313833	ensembl	human	known	70_37	missense	SNP	0.001	G
GALNS	2588	genome.wustl.edu	37	16	88898465	88898465	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:88898465C>G	ENST00000268695.5	-	9	1031	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	GALNS_ENST00000542788.1_Missense_Mutation_p.E240Q	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	315	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		ATCCCTCCTTCAAACGTGGTC	0.672																																					GBM(129;1929 2344 25209 33204)												0													90.0	68.0	76.0					16																	88898465		2198	4300	6498	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.943G>C	16.37:g.88898465C>G	ENSP00000268695:p.Glu315Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E315Q	ENST00000268695.5	37	c.943	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.277598	0.95459	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.95690	-3.78;-3.78	5.4	5.4	0.78164	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.94698	3.57	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.72338	0.977;0.928	D	0.99449	1.0940	10	0.87932	D	0	.	19.2326	0.93846	0.0:1.0:0.0:0.0	.	315;315	B2R6P1;P34059	.;GALNS_HUMAN	Q	315;240	ENSP00000268695:E315Q;ENSP00000438197:E240Q	ENSP00000268695:E315Q	E	-	1	0	GALNS	87425966	1.000000	0.71417	0.989000	0.46669	0.775000	0.43874	7.547000	0.82146	2.553000	0.86117	0.549000	0.68633	GAA	GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.672	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	C			88898465	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	missense	SNP	1.000	G
GEMIN5	25929	genome.wustl.edu	37	5	154280965	154280965	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr5:154280965G>C	ENST00000285873.7	-	21	3023	c.2948C>G	c.(2947-2949)tCt>tGt	p.S983C		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	983					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGTAGGTGAGAAGCAGCCTT	0.453																																																	0													117.0	116.0	116.0					5																	154280965		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2948C>G	5.37:g.154280965G>C	ENSP00000285873:p.Ser983Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S983C	ENST00000285873.7	37	c.2948	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334837	0.81801	.	.	ENSG00000082516	ENST00000285873	T	0.73363	-0.74	5.93	5.06	0.68205	.	0.054427	0.85682	N	0.000000	D	0.86197	0.5875	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87983	0.2744	10	0.72032	D	0.01	-10.7747	17.2669	0.87089	0.0:0.1255:0.8744:0.0	.	982;983	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	C	983	ENSP00000285873:S983C	ENSP00000285873:S983C	S	-	2	0	GEMIN5	154261158	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.147000	0.94646	1.493000	0.48517	-0.165000	0.13383	TCT	GEMIN5	-	NULL		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154280965	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	missense	SNP	1.000	C
GJA4	2701	genome.wustl.edu	37	1	35260438	35260438	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:35260438C>T	ENST00000342280.4	+	2	712	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	208					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGACCATCTTCATCATCT	0.602																																																	0													110.0	98.0	102.0					1																	35260438		2203	4300	6503	SO:0001819	synonymous_variant	2701			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.624C>T	1.37:g.35260438C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37	p.I208	ENST00000342280.4	37	c.624	CCDS30669.1	1																																																																																			GJA4	-	pfam_Connexin_CCC,prints_Connexin		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	HGNC	protein_coding	OTTHUMT00000011556.1	C	NM_002060		35260438	+1	no_errors	ENST00000342280	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR125	166647	genome.wustl.edu	37	4	22415240	22415240	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr4:22415240C>T	ENST00000334304.5	-	13	2276	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	669					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGTGAGAATCACAGGGGTAA	0.398																																																	0													116.0	109.0	111.0					4																	22415240		2203	4300	6503	SO:0001819	synonymous_variant	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2007G>A	4.37:g.22415240C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.V669	ENST00000334304.5	37	c.2007	CCDS33964.1	4																																																																																			GPR125	-	NULL		0.398	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	C			22415240	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	silent	SNP	1.000	T
GUCY2F	2986	genome.wustl.edu	37	X	108696806	108696806	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:108696806G>A	ENST00000218006.2	-	4	1606	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	439					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAGGGAAGTGAATAGGGGTC	0.488																																																	0													133.0	99.0	111.0					X																	108696806		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1315C>T	X.37:g.108696806G>A	ENSP00000218006:p.His439Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.H439Y	ENST00000218006.2	37	c.1315	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776434	0.49786	.	.	ENSG00000101890	ENST00000218006	T	0.74526	-0.85	3.97	3.11	0.35812	.	0.048554	0.85682	N	0.000000	T	0.68007	0.2954	M	0.72894	2.215	0.51482	D	0.999924	P	0.42827	0.791	B	0.39299	0.296	T	0.63571	-0.6607	10	0.20046	T	0.44	.	8.7795	0.34783	0.1162:0.0:0.8838:0.0	.	439	P51841	GUC2F_HUMAN	Y	439	ENSP00000218006:H439Y	ENSP00000218006:H439Y	H	-	1	0	GUCY2F	108583462	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	1.800000	0.38833	1.028000	0.39785	0.506000	0.49869	CAC	GUCY2F	-	NULL		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	G	NM_001522		108696806	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112712683	112712683	+	Intron	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr12:112712683G>A	ENST00000430131.2	-	10	1651				HECTD4_ENST00000377560.5_Intron|HECTD4_ENST00000550722.1_Missense_Mutation_p.S446L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACGCCCCAGTGAGCTTCCAGC	0.408																																																	0																																										SO:0001627	intron_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.506-1084C>T	12.37:g.112712683G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S446L	ENST00000430131.2	37	c.1337		12	.	.	.	.	.	.	.	.	.	.	G	35	5.520599	0.96416	.	.	ENSG00000173064	ENST00000550722	T	0.49720	0.77	5.93	5.93	0.95920	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72023	-0.4415	6	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	L	446	ENSP00000449784:S446L	ENSP00000449784:S446L	S	-	2	0	C12orf51	111197066	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	9.358000	0.97109	2.826000	0.97356	0.655000	0.94253	TCA	HECTD4	-	NULL		0.408	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112712683	-1	no_errors	ENST00000550722	ensembl	human	novel	70_37	missense	SNP	1.000	A
HINFP	25988	genome.wustl.edu	37	11	119003445	119003445	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:119003445C>T	ENST00000350777.2	+	7	892	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	HINFP_ENST00000527410.1_Missense_Mutation_p.R277C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	277					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCGCTTTCGTCACAGTGA	0.547																																																	0													120.0	113.0	116.0					11																	119003445		2200	4295	6495	SO:0001583	missense	25988			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.829C>T	11.37:g.119003445C>T	ENSP00000318085:p.Arg277Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R277C	ENST00000350777.2	37	c.829	CCDS8414.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941936	0.92526	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.28895	1.59;1.59	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	N	0.25890	0.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46119	-0.9214	10	0.87932	D	0	-29.9316	19.8599	0.96779	0.0:1.0:0.0:0.0	.	277	Q9BQA5	HINFP_HUMAN	C	277	ENSP00000318085:R277C;ENSP00000436815:R277C	ENSP00000318085:R277C	R	+	1	0	HINFP	118508655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.369000	0.59511	2.710000	0.92621	0.655000	0.94253	CGT	HINFP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	HGNC	protein_coding	OTTHUMT00000388201.2	C	NM_015517		119003445	+1	no_errors	ENST00000350777	ensembl	human	known	70_37	missense	SNP	1.000	T
HLA-A	3105	genome.wustl.edu	37	6	29911898	29911898	+	Splice_Site	SNP	G	G	A	rs199474608|rs386698554		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:29911898G>A	ENST00000396634.1	+	6	960		c.e6-1		HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTTCCCGTCAGACCCCCCCAA	0.572									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Unknown(1)	lung(1)											117.0	148.0	137.0					6																	29911898		1505	2709	4214	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.620-1G>A	6.37:g.29911898G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e4-1	ENST00000396634.1	37	c.620-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	12.77	2.037751	0.35989	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30019877	1.000000	0.71417	0.490000	0.27465	0.007000	0.05969	4.772000	0.62324	2.070000	0.61991	0.485000	0.47835	.	HLA-A	-	-		0.572	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29911898	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.987	A
HTR3B	9177	genome.wustl.edu	37	11	113813893	113813893	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:113813893G>T	ENST00000260191.2	+	7	1143	c.886G>T	c.(886-888)Gta>Tta	p.V296L	HTR3B_ENST00000537778.1_Missense_Mutation_p.V285L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	296					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCCACGGAGTGTAGGGAGCAC	0.572																																																	0													91.0	67.0	75.0					11																	113813893		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.886G>T	11.37:g.113813893G>T	ENSP00000260191:p.Val296Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.V296L	ENST00000260191.2	37	c.886	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971413	0.18736	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.85339	-1.97;-1.97	5.41	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.359492	0.31415	N	0.007693	T	0.63414	0.2509	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.006;0.011	B;B	0.19666	0.026;0.016	T	0.52139	-0.8615	10	0.87932	D	0	-0.1385	4.2865	0.10857	0.3775:0.0:0.2934:0.3291	.	285;296	O95264-2;O95264	.;5HT3B_HUMAN	L	296;285	ENSP00000260191:V296L;ENSP00000443118:V285L	ENSP00000260191:V296L	V	+	1	0	HTR3B	113319103	0.070000	0.21116	0.000000	0.03702	0.008000	0.06430	0.589000	0.23939	-0.889000	0.03950	-0.142000	0.14014	GTA	HTR3B	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113813893	+1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	0.019	T
IRGQ	126298	genome.wustl.edu	37	19	44096997	44096997	+	Silent	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:44096997G>A	ENST00000602269.1	-	2	1238	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	IRGQ_ENST00000422989.1_Silent_p.G351G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	351	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTAAGCTCTCGCCCTTGGGAT	0.587																																																	0													223.0	218.0	220.0					19																	44096997		2203	4300	6503	SO:0001819	synonymous_variant	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1053C>T	19.37:g.44096997G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNP3	Silent	SNP	NULL	p.G351	ENST00000602269.1	37	c.1053	CCDS33040.1	19																																																																																			IRGQ	-	NULL		0.587	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	G	NM_001007561		44096997	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	silent	SNP	0.000	A
ITGB1BP1	9270	genome.wustl.edu	37	2	9552384	9552384	+	Intron	DEL	T	T	-			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr2:9552384delT	ENST00000360635.3	-	5	1185				ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000355346.4_Intron|ITGB1BP1_ENST00000359712.3_Intron|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1						activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AGTTACGGAATTTTTTTTTTT	0.488																																																	0									,	633,165,15,3421		44,4,3,538,3,0,155,0,12,1358	32.0	32.0	32.0		,	-3.1	0.0	2	dbSNP_132	32	3001,174,76,4991		413,14,53,2108,1,0,158,1,21,1352	no	intron,intron	ITGB1BP1	NM_022334.3,NM_004763.3	,	457,18,56,2646,4,0,313,1,33,2710	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		39.4443,19.2017,32.5745	,	,	9552384	3634,339,91,8412	2192	4296	6488	SO:0001627	intron_variant	9270			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.288+13A>-	2.37:g.9552384delT		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	pfam_Integrin-bd_ICAP-1	p.N101fs	ENST00000360635.3	37	c.302	CCDS1662.1	2																																																																																			ITGB1BP1	-	NULL		0.488	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	T	NM_004763, NM_022334		9552384	-1	no_errors	ENST00000483795	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
KAT6B	23522	genome.wustl.edu	37	10	76789437	76789437	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:76789437G>A	ENST00000287239.4	+	18	5344	c.4855G>A	c.(4855-4857)Gtc>Atc	p.V1619I	KAT6B_ENST00000372724.1_Missense_Mutation_p.V1327I|KAT6B_ENST00000372711.1_Missense_Mutation_p.V1436I|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1327I|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1327I	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1619	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGCCCAAGTGTCCCTGCTCT	0.547																																																	0													173.0	143.0	153.0					10																	76789437		2203	4300	6503	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4855G>A	10.37:g.76789437G>A	ENSP00000287239:p.Val1619Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V1619I	ENST00000287239.4	37	c.4855	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869538	0.51588	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80566	-1.36;-1.36;-1.39;-1.36;-1.37	4.7	4.7	0.59300	.	0.000000	0.45126	D	0.000397	D	0.84065	0.5390	L	0.27053	0.805	0.54753	D	0.999988	D;D;D	0.61697	0.959;0.99;0.969	D;D;P	0.75484	0.949;0.986;0.903	D	0.86437	0.1764	10	0.62326	D	0.03	-7.1538	17.6433	0.88142	0.0:0.0:1.0:0.0	.	1436;1327;1619	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	I	1327;1327;1619;1327;1436	ENSP00000361810:V1327I;ENSP00000361809:V1327I;ENSP00000287239:V1619I;ENSP00000361799:V1327I;ENSP00000361796:V1436I	ENSP00000287239:V1619I	V	+	1	0	KAT6B	76459443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.430000	0.97488	2.154000	0.67381	0.563000	0.77884	GTC	KAT6B	-	NULL		0.547	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76789437	+1	no_errors	ENST00000287239	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNMA1	3778	genome.wustl.edu	37	10	78651444	78651444	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:78651444G>A	ENST00000286628.8	-	26	3180	c.3181C>T	c.(3181-3183)Cgg>Tgg	p.R1061W	KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1064W|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1030W|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1065W|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1003W|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1003W|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1044W|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1061W	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACCAGGGTCCGTATCAGGGTG	0.547																																																	0													61.0	62.0	62.0					10																	78651444		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3181C>T	10.37:g.78651444G>A	ENSP00000286628:p.Arg1061Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.R1065W	ENST00000286628.8	37	c.3193		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.280911|4.280911	0.80692|0.80692	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.85629|.	-1.97;-1.98;-1.99;-1.99;-1.98;-1.96;-2.01;-2.01;-2.0|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72120|0.72120	0.3421|0.3421	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.987;0.994;1.0;0.994;0.997;0.996;0.987|.	T|T	0.71220|0.71220	-0.4657|-0.4657	10|5	0.87932|.	D|.	0|.	-12.0615|-12.0615	14.294|14.294	0.66300|0.66300	0.0:0.0:0.8514:0.1485|0.0:0.0:0.8514:0.1485	.|.	1032;1033;1044;1061;1003;814;1064;1030|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	W|M	1003;940;996;1035;998;1030;1003;1035;1065;1064;1044;814|991;710	ENSP00000361517:R1003W;ENSP00000361485:R940W;ENSP00000361514:R996W;ENSP00000396608:R1035W;ENSP00000361520:R1030W;ENSP00000286627:R1003W;ENSP00000385552:R1065W;ENSP00000346321:R1064W;ENSP00000385806:R1044W|.	ENSP00000286627:R1003W|.	R|T	-|-	1|2	2|0	KCNMA1|KCNMA1	78321450|78321450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.214000|6.214000	0.72200|0.72200	2.607000|2.607000	0.88179|0.88179	0.585000|0.585000	0.79938|0.79938	CGG|ACG	KCNMA1	-	NULL		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	G	NM_002247		78651444	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	A
AREL1	9870	genome.wustl.edu	37	14	75151319	75151319	+	Silent	SNP	T	T	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:75151319T>A	ENST00000356357.4	-	4	596	c.81A>T	c.(79-81)gcA>gcT	p.A27A	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	27					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGACTACACGTGCGGCAAGCT	0.522																																																	0													52.0	51.0	51.0					14																	75151319		1982	4172	6154	SO:0001819	synonymous_variant	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.81A>T	14.37:g.75151319T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.A27	ENST00000356357.4	37	c.81	CCDS41971.1	14																																																																																			KIAA0317	-	NULL		0.522	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	T	NM_014821		75151319	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	silent	SNP	1.000	A
LILRA4	23547	genome.wustl.edu	37	19	54848713	54848713	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:54848713C>T	ENST00000291759.4	-	5	966	c.910G>A	c.(910-912)Gag>Aag	p.E304K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	304	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCGACCACTCGGAGGAGACG	0.682																																																	0													30.0	31.0	31.0					19																	54848713		2202	4299	6501	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.910G>A	19.37:g.54848713C>T	ENSP00000291759:p.Glu304Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E304K	ENST00000291759.4	37	c.910	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	9.106	1.005450	0.19199	.	.	ENSG00000239961	ENST00000291759	T	0.12879	2.64	2.69	-5.39	0.02664	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.590770	0.01049	N	0.004426	T	0.13457	0.0326	M	0.62154	1.92	0.09310	N	1	B	0.22276	0.067	B	0.23275	0.045	T	0.20207	-1.0282	10	0.45353	T	0.12	.	2.1657	0.03836	0.1463:0.1992:0.4351:0.2194	.	304	P59901	LIRA4_HUMAN	K	304	ENSP00000291759:E304K	ENSP00000291759:E304K	E	-	1	0	LILRA4	59540525	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.088000	0.01359	-1.550000	0.01708	-1.281000	0.01382	GAG	LILRA4	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.682	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	C	NM_012276		54848713	-1	no_errors	ENST00000291759	ensembl	human	known	70_37	missense	SNP	0.000	T
LPAL2	80350	genome.wustl.edu	37	6	160906846	160906846	+	RNA	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:160906846C>T	ENST00000335388.5	-	0	850					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAAAGACGTACGCATTTGGGT	0.463																																																	0																																												80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160906846C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5B4	Splice_Site	SNP	-	NULL	ENST00000335388.5	37	c.NULL		6																																																																																			LPAL2	-	-		0.463	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	C	NM_024492		160906846	-1	no_errors	ENST00000335388	ensembl	human	known	70_37	splice_site	SNP	0.969	T
MAGEL2	54551	genome.wustl.edu	37	15	23890185	23890185	+	Missense_Mutation	SNP	G	G	A	rs373945272		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr15:23890185G>A	ENST00000532292.1	-	1	990	c.896C>T	c.(895-897)aCg>aTg	p.T299M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	182					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAAGGCTAGCGTGTGGCCACG	0.622																																																	0								G	MET/THR	0,4310		0,0,2155	44.0	52.0	49.0		2705	-0.9	0.0	15		49	2,8570		0,2,4284	no	missense	MAGEL2	NM_019066.4	81	0,2,6439	AA,AG,GG		0.0233,0.0,0.0155	benign	902/1250	23890185	2,12880	2155	4286	6441	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.896C>T	15.37:g.23890185G>A	ENSP00000433433:p.Thr299Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T299M	ENST00000532292.1	37	c.896		15	.	.	.	.	.	.	.	.	.	.	G	0.629	-0.817964	0.02776	0.0	2.33E-4	ENSG00000254585	ENST00000532292	.	.	.	3.94	-0.886	0.10590	.	.	.	.	.	T	0.09291	0.0229	N	0.02539	-0.55	0.09310	N	1	.	.	.	.	.	.	T	0.32877	-0.9890	5	.	.	.	.	5.1425	0.14967	0.2651:0.4554:0.2795:0.0	.	.	.	.	C	331	.	.	R	-	1	0	MAGEL2	21441278	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.463000	0.06696	-0.154000	0.11118	0.655000	0.94253	CGC	MAGEL2	-	NULL		0.622	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	G	NM_019066		23890185	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.000	A
METTL4	64863	genome.wustl.edu	37	18	2544664	2544664	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr18:2544664G>A	ENST00000574538.1	-	7	1944	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	METTL4_ENST00000319888.6_Missense_Mutation_p.A390V	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	390					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAATGGTAGAGCAGTTTTTTC	0.323																																																	0													105.0	100.0	102.0					18																	2544664		2203	4300	6503	SO:0001583	missense	64863				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1169C>T	18.37:g.2544664G>A	ENSP00000458290:p.Ala390Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.A390V	ENST00000574538.1	37	c.1169	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182393	0.09495	.	.	ENSG00000101574	ENST00000319888	T	0.23552	1.9	4.85	2.67	0.31697	.	0.918042	0.09175	N	0.838211	T	0.19525	0.0469	L	0.39245	1.2	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.28038	-1.0056	10	0.22109	T	0.4	-9.1932	6.4838	0.22077	0.1919:0.0:0.6559:0.1522	.	390	Q8N3J2	METL4_HUMAN	V	390	ENSP00000320349:A390V	ENSP00000320349:A390V	A	-	2	0	METTL4	2534664	0.003000	0.15002	0.621000	0.29145	0.951000	0.60555	0.565000	0.23578	1.025000	0.39708	0.591000	0.81541	GCT	METTL4	-	pfam_MT-A70-like,pfscan_MT-A70-like		0.323	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	G	NM_022840		2544664	-1	no_errors	ENST00000574538	ensembl	human	known	70_37	missense	SNP	0.102	A
MGA	23269	genome.wustl.edu	37	15	42058656	42058656	+	Silent	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr15:42058656G>T	ENST00000570161.1	+	23	8376	c.8376G>T	c.(8374-8376)ctG>ctT	p.L2792L	MGA_ENST00000389936.4_Silent_p.L2753L|MGA_ENST00000219905.7_Silent_p.L2792L|MGA_ENST00000566586.1_Silent_p.L2583L|MGA_ENST00000545763.1_Silent_p.L2583L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGATGGAACTGAGGAAAGTAA	0.403																																																	0													81.0	76.0	78.0					15																	42058656		1990	4171	6161	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8376G>T	15.37:g.42058656G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L2792	ENST00000570161.1	37	c.8376	CCDS55959.1	15																																																																																			MGA	-	NULL		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42058656	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	silent	SNP	0.999	T
MGEA5	10724	genome.wustl.edu	37	10	103563732	103563732	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:103563732C>G	ENST00000361464.3	-	7	1191	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	MGEA5_ENST00000439817.1_Missense_Mutation_p.E266Q|MGEA5_ENST00000370094.3_Missense_Mutation_p.E266Q|MGEA5_ENST00000357797.5_Missense_Mutation_p.E266Q	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	266					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTAGAAACCTCTTCGATGGAC	0.393																																																	0													92.0	98.0	96.0					10																	103563732		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.796G>C	10.37:g.103563732C>G	ENSP00000354850:p.Glu266Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.E266Q	ENST00000361464.3	37	c.796	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.501045	0.96371	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.35236	1.43;1.34;1.44;1.32	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.55172	0.97;0.963;0.959;0.97	P;P;P;P	0.62813	0.907;0.85;0.835;0.892	T	0.48636	-0.9018	10	0.52906	T	0.07	-18.0855	20.5568	0.99304	0.0:1.0:0.0:0.0	.	266;266;266;266	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	Q	266;266;266;266;181	ENSP00000409973:E266Q;ENSP00000354850:E266Q;ENSP00000350445:E266Q;ENSP00000359112:E266Q	ENSP00000350445:E266Q	E	-	1	0	MGEA5	103553722	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.764000	0.85297	2.861000	0.98227	0.655000	0.94253	GAG	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF		0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	C	NM_012215		103563732	-1	no_errors	ENST00000361464	ensembl	human	known	70_37	missense	SNP	1.000	G
MPST	4357	genome.wustl.edu	37	22	37420682	37420682	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr22:37420682C>T	ENST00000397225.2	+	2	1341	c.426C>T	c.(424-426)ctC>ctT	p.L142L	MPST_ENST00000404802.3_Silent_p.L142L|MPST_ENST00000404393.1_Silent_p.L142L|MPST_ENST00000341116.3_Silent_p.L142L|MPST_ENST00000401419.3_Silent_p.L142L|MPST_ENST00000429360.2_Silent_p.L142L|MPST_ENST00000397129.1_Silent_p.L162L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	142	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						ACCTCCCGCTCAGCTCCGGCA	0.672																																																	0													12.0	13.0	13.0					22																	37420682		2196	4287	6483	SO:0001819	synonymous_variant	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.426C>T	22.37:g.37420682C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Silent	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L162	ENST00000397225.2	37	c.486	CCDS13939.1	22																																																																																			MPST	-	superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.672	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MPST	HGNC	protein_coding	OTTHUMT00000318832.1	C	NM_001013440		37420682	+1	no_errors	ENST00000397129	ensembl	human	known	70_37	silent	SNP	0.582	T
MRRFP1	286423	genome.wustl.edu	37	X	122251331	122251331	+	IGR	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:122251331C>T								U3 (276834 upstream) : GRIA3 (66674 downstream)																							CTATCACAGACTTCATTTCTT	0.423																																																	0																																										SO:0001628	intergenic_variant	286423																															X.37:g.122251331C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.K93		37	c.279		X																																																																																			MRRFP1	-	superfamily_Ribosome_recyc_fac_dom	0	0.423					MRRFP1	HGNC			C			122251331	-1	no_errors	ENST00000435941	ensembl	human	known	70_37	silent	SNP	0.989	T
MT-CO1	4512	genome.wustl.edu	37	M	6912	6912	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrM:6912G>A	ENST00000361624.2	+	1	1009	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	337					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AATGATCTGCTGCAGTGCTCT	0.473																																																	0																																										SO:0001583	missense	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1009G>A	M.37:g.6912G>A	ENSP00000354499:p.Ala337Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A337T	ENST00000361624.2	37	c.1009		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		G	YP_003024028		6912	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	missense	SNP	NULL	A
MUC17	140453	genome.wustl.edu	37	7	100678400	100678400	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr7:100678400G>A	ENST00000306151.4	+	3	3767	c.3703G>A	c.(3703-3705)Gag>Aag	p.E1235K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1235	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.517																																																	0													304.0	291.0	296.0					7																	100678400		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3703G>A	7.37:g.100678400G>A	ENSP00000302716:p.Glu1235Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1235K	ENST00000306151.4	37	c.3703	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225743	0.09916	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.471	0.471	0.16752	.	.	.	.	.	T	0.03827	0.0108	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.57009	0.811	T	0.26916	-1.0089	8	0.07175	T	0.84	.	.	.	.	.	1235	Q685J3	MUC17_HUMAN	K	1235	ENSP00000302716:E1235K	ENSP00000302716:E1235K	E	+	1	0	MUC17	100465120	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	0.216000	0.17585	0.558000	0.29135	0.134000	0.15878	GAG	MUC17	-	NULL		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100678400	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.019	A
MUT	4594	genome.wustl.edu	37	6	49403181	49403181	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:49403181C>T	ENST00000274813.3	-	12	2239	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	704	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGGTATCACCCCTCCAC	0.398																																																	0													88.0	74.0	79.0					6																	49403181		2203	4300	6503	SO:0001819	synonymous_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.2112G>A	6.37:g.49403181C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.V704	ENST00000274813.3	37	c.2112	CCDS4924.1	6																																																																																			MUT	-	pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C		0.398	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	C			49403181	-1	no_errors	ENST00000274813	ensembl	human	known	70_37	silent	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3242249	3242249	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:3242249C>T	ENST00000217939.6	-	5	1631	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	493	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGACCCCCTTCCAGGACAGTC	0.517																																																	0													114.0	102.0	106.0					X																	3242249		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1477G>A	X.37:g.3242249C>T	ENSP00000217939:p.Glu493Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E493K	ENST00000217939.6	37	c.1477	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585940	0.13749	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.33438	1.41	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181905	0.26055	U	0.026616	T	0.27489	0.0675	L	0.60845	1.875	0.23984	N	0.996264	B	0.25272	0.122	B	0.25884	0.064	T	0.14448	-1.0472	10	0.21014	T	0.42	.	9.9276	0.41503	0.0:0.8956:0.0:0.1044	.	493	Q9NR99	MXRA5_HUMAN	K	493	ENSP00000217939:E493K	ENSP00000217939:E493K	E	-	1	0	MXRA5	3252249	0.993000	0.37304	0.101000	0.21167	0.046000	0.14306	2.917000	0.48821	1.439000	0.47511	0.431000	0.28591	GAA	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3242249	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.922	T
NBL1	4681	genome.wustl.edu	37	1	19981629	19981629	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:19981629G>A	ENST00000375136.3	+	2	409	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	NBL1_ENST00000289749.2_Missense_Mutation_p.E71K|MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.E36K|NBL1_ENST00000548815.1_Missense_Mutation_p.E35K	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	36	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGGTGCGAAGCCAAGAA	0.632																																																	0													44.0	35.0	38.0					1																	19981629		2203	4300	6503	SO:0001583	missense	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.106G>A	1.37:g.19981629G>A	ENSP00000364278:p.Glu36Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.E71K	ENST00000375136.3	37	c.211	CCDS196.2	1	.	.	.	.	.	.	.	.	.	.	g	16.67	3.187078	0.57909	.	.	ENSG00000158747	ENST00000428975;ENST00000289749;ENST00000451758;ENST00000439664;ENST00000375136;ENST00000548815;ENST00000425400;ENST00000439278;ENST00000427894	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.14	4.14	0.48551	DAN (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	N	0.11201	0.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.991	T	0.22836	-1.0205	9	.	.	.	-12.7249	15.5288	0.75936	0.0:0.0:1.0:0.0	.	35;71	P41271;P41271-2	NBL1_HUMAN;.	K	36;71;36;36;36;35;36;70;35	ENSP00000412419:E36K;ENSP00000289749:E71K;ENSP00000390607:E36K;ENSP00000399333:E36K;ENSP00000364278:E36K;ENSP00000449007:E35K;ENSP00000400250:E36K;ENSP00000391858:E70K;ENSP00000394079:E35K	.	E	+	1	0	NBL1	19854216	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	7.182000	0.77689	2.292000	0.77174	0.457000	0.33378	GAA	NBL1	-	pfam_DAN,pfam_Cys_knot		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	G	NM_005380		19981629	+1	no_errors	ENST00000289749	ensembl	human	known	70_37	missense	SNP	1.000	A
NEU1	4758	genome.wustl.edu	37	6	31827564	31827564	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:31827564C>T	ENST00000375631.4	-	6	1309	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	394					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CGGCCTTTCTCATACAGGACG	0.582																																																	0													143.0	144.0	144.0					6																	31827564		1509	2708	4217	SO:0001583	missense	4758			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.1180G>A	6.37:g.31827564C>T	ENSP00000364782:p.Glu394Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Neuraminidase	p.E394K	ENST00000375631.4	37	c.1180	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.251074	0.95305	.	.	ENSG00000204386	ENST00000375631	D	0.87887	-2.31	5.4	5.4	0.78164	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92668	0.6147	10	0.87932	D	0	-8.6601	16.7195	0.85406	0.0:1.0:0.0:0.0	.	394	Q99519	NEUR1_HUMAN	K	394	ENSP00000364782:E394K	ENSP00000364782:E394K	E	-	1	0	NEU1	31935543	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.128000	0.77217	2.814000	0.96858	0.563000	0.77884	GAG	NEU1	-	superfamily_Neuraminidase		0.582	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	C			31827564	-1	no_errors	ENST00000375631	ensembl	human	known	70_37	missense	SNP	1.000	T
NFKBIA	4792	genome.wustl.edu	37	14	35872491	35872491	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:35872491C>G	ENST00000216797.5	-	3	513	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E48Q|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E138Q|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	138					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TCTCGGAGCTCAGGATCACAG	0.582																																																	0													100.0	105.0	103.0					14																	35872491		2203	4300	6503	SO:0001583	missense	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.412G>C	14.37:g.35872491C>G	ENSP00000216797:p.Glu138Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8L6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E138Q	ENST00000216797.5	37	c.412	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413940	0.62511	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.64618	-0.11;-0.11;-0.11	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.63426	0.2510	N	0.25825	0.765	0.44825	D	0.997837	D;P	0.53151	0.958;0.843	P;B	0.53649	0.731;0.162	T	0.55250	-0.8170	9	0.20519	T	0.43	-8.2846	20.6208	0.99490	0.0:1.0:0.0:0.0	.	138;138	G3V3I4;P25963	.;IKBA_HUMAN	Q	138;138;48	ENSP00000216797:E138Q;ENSP00000451257:E138Q;ENSP00000450514:E48Q	ENSP00000216797:E138Q	E	-	1	0	NFKBIA	34942242	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.941000	0.49011	2.882000	0.98803	0.655000	0.94253	GAG	NFKBIA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872491	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	missense	SNP	1.000	G
NOTCH3	4854	genome.wustl.edu	37	19	15295256	15295256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:15295256G>A	ENST00000263388.2	-	16	2491	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	806	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCTGGCATCGTGGGCCTGGG	0.627																																																	0													53.0	48.0	49.0					19																	15295256		2203	4300	6503	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2416C>T	19.37:g.15295256G>A	ENSP00000263388:p.Arg806*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.R806*	ENST00000263388.2	37	c.2416	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.212215	0.98139	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	4.13	0.48395	.	0.000000	0.26899	N	0.021922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	14.0281	0.64597	0.0:0.0:0.8475:0.1525	.	.	.	.	X	806	.	ENSP00000263388:R806X	R	-	1	2	NOTCH3	15156256	0.000000	0.05858	0.803000	0.32268	0.495000	0.33615	0.507000	0.22675	1.161000	0.42604	0.655000	0.94253	CGA	NOTCH3	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	G	NM_000435		15295256	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonsense	SNP	0.115	A
NUCB1	4924	genome.wustl.edu	37	19	49404117	49404117	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:49404117C>T	ENST00000405315.4	+	2	398	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000407032.1_Missense_Mutation_p.R22C|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.R22C	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	22						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		gctcctgctTCGCGCCGTGCT	0.667																																																	0													57.0	47.0	50.0					19																	49404117		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.64C>T	19.37:g.49404117C>T	ENSP00000385923:p.Arg22Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R22C	ENST00000405315.4	37	c.64	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732303	0.15507	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	T;T;T	0.17854	2.25;2.25;2.25	4.08	3.04	0.35103	.	0.726183	0.12968	N	0.424399	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	D;P	0.56968	0.978;0.946	B;B	0.31390	0.129;0.129	T	0.21518	-1.0243	10	0.37606	T	0.19	.	7.0694	0.25169	0.0:0.8749:0.0:0.1251	.	22;22	Q02818;Q53GX6	NUCB1_HUMAN;.	C	22	ENSP00000385923:R22C;ENSP00000385211:R22C;ENSP00000263273:R22C	ENSP00000263273:R22C	R	+	1	0	NUCB1	54095929	0.001000	0.12720	0.142000	0.22268	0.011000	0.07611	-0.005000	0.12855	1.269000	0.44280	0.549000	0.68633	CGC	NUCB1	-	NULL		0.667	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	C	NM_006184		49404117	+1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.162	T
NUDT3	11165	genome.wustl.edu	37	6	34261289	34261289	+	Silent	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:34261289C>T	ENST00000607016.1	-	4	590	c.279G>A	c.(277-279)acG>acA	p.T93T	RPS10-NUDT3_ENST00000605528.1_Silent_p.T212T	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	93	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						CATAGACATACGTCCTGTGCT	0.438																																					GBM(96;1206 1939 18658 39482)												0													142.0	132.0	135.0					6																	34261289		2203	4300	6503	SO:0001819	synonymous_variant	11165			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"""Nudix motif containing"""	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.279G>A	6.37:g.34261289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8N4	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.T93	ENST00000607016.1	37	c.279	CCDS4791.1	6																																																																																			NUDT3	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.438	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT3	HGNC	protein_coding	OTTHUMT00000040224.2	C			34261289	-1	no_errors	ENST00000358797	ensembl	human	known	70_37	silent	SNP	0.048	T
OR51A7	119687	genome.wustl.edu	37	11	4929287	4929287	+	Silent	SNP	T	T	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:4929287T>C	ENST00000359350.4	+	1	688	c.688T>C	c.(688-690)Ttg>Ctg	p.L230L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	230						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)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGCATCTTTGGCAGAGAG	0.468																																																	0													230.0	195.0	207.0					11																	4929287		2201	4298	6499	SO:0001819	synonymous_variant	119687			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.688T>C	11.37:g.4929287T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFH8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L230	ENST00000359350.4	37	c.688	CCDS31364.1	11																																																																																			OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	T	NM_001004749		4929287	+1	no_errors	ENST00000359350	ensembl	human	known	70_37	silent	SNP	0.000	C
OXA1L	5018	genome.wustl.edu	37	14	23235776	23235776	+	Missense_Mutation	SNP	G	G	T	rs149160371		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:23235776G>T	ENST00000285848.5	+	1	46	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000358043.5_5'Flank|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.A16S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAATATGGCCGCCAAGCTCCG	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											118.0	122.0	121.0					14																	23235776		2203	4300	6503	SO:0001583	missense	5018				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.46G>T	14.37:g.23235776G>T	ENSP00000285848:p.Ala16Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPA2	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC	p.A16S	ENST00000285848.5	37	c.46	CCDS9573.1	14	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581070	0.46006	.	.	ENSG00000155463	ENST00000285848	T	0.36699	1.24	4.98	3.16	0.36331	.	1.048650	0.07674	U	0.936032	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	P	0.39216	0.664	B	0.32149	0.141	T	0.01583	-1.1319	10	0.87932	D	0	-1.1814	7.1234	0.25458	0.1998:0.0:0.8002:0.0	.	16	Q2M1J6	.	S	16	ENSP00000285848:A16S	ENSP00000285848:A16S	A	+	1	0	OXA1L	22305616	0.711000	0.27906	0.590000	0.28732	0.774000	0.43823	0.728000	0.26013	0.696000	0.31696	0.655000	0.94253	GCC	OXA1L	-	NULL		0.493	OXA1L-001	KNOWN	basic|CCDS	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000071630.2	G	NM_005015		23235776	+1	no_errors	ENST00000285848	ensembl	human	known	70_37	missense	SNP	0.829	T
PLXNA3	55558	genome.wustl.edu	37	X	153698895	153698895	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:153698895G>T	ENST00000369682.3	+	30	5272	c.5097G>T	c.(5095-5097)gaG>gaT	p.E1699D	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1699					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGATGAGCAGGCGGACC	0.617																																																	0													94.0	84.0	88.0					X																	153698895		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5097G>T	X.37:g.153698895G>T	ENSP00000358696:p.Glu1699Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1699D	ENST00000369682.3	37	c.5097	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766710	0.49574	.	.	ENSG00000130827	ENST00000369682	T	0.12879	2.64	5.21	3.41	0.39046	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.35542	1.07	0.52501	D	0.999955	P	0.45902	0.868	P	0.52758	0.708	T	0.11591	-1.0581	10	0.23891	T	0.37	.	6.6588	0.23002	0.3939:0.0:0.6061:0.0	.	1699	P51805	PLXA3_HUMAN	D	1699	ENSP00000358696:E1699D	ENSP00000358696:E1699D	E	+	3	2	PLXNA3	153352089	0.999000	0.42202	0.998000	0.56505	0.808000	0.45660	0.462000	0.21956	0.405000	0.25532	-0.297000	0.09499	GAG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153698895	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	T
PPID	5481	genome.wustl.edu	37	4	159634413	159634413	+	Splice_Site	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr4:159634413C>T	ENST00000307720.3	-	7	860		c.e7-1			NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D						apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTCCACGTATCTGCAGAATGC	0.378																																																	0													96.0	88.0	91.0					4																	159634413		2203	4300	6503	SO:0001630	splice_region_variant	5481				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.753-1G>A	4.37:g.159634413C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9V2	Splice_Site	SNP	-	e7-1	ENST00000307720.3	37	c.753-1	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580015	0.46006	.	.	ENSG00000171497	ENST00000307720	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4496	0.90699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPID	159853863	1.000000	0.71417	0.103000	0.21229	0.012000	0.07955	5.731000	0.68554	2.505000	0.84491	0.557000	0.71058	.	PPID	-	-		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	C	NM_005038	Intron	159634413	-1	no_errors	ENST00000307720	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PREX1	57580	genome.wustl.edu	37	20	47361648	47361648	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:47361648G>A	ENST00000371941.3	-	3	350	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	PREX1_ENST00000396220.1_Missense_Mutation_p.H110Y	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	110	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAATCCTTATGAACTTCCAGG	0.493																																																	0													160.0	165.0	163.0					20																	47361648		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.328C>T	20.37:g.47361648G>A	ENSP00000361009:p.His110Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H110Y	ENST00000371941.3	37	c.328	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553070	0.86127	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.74002	-0.8;-0.8	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.51477	U	0.000099	D	0.91030	0.7178	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93930	0.7213	10	0.87932	D	0	.	18.0488	0.89341	0.0:0.0:1.0:0.0	.	110	Q8TCU6	PREX1_HUMAN	Y	110	ENSP00000361009:H110Y;ENSP00000379522:H110Y	ENSP00000361009:H110Y	H	-	1	0	PREX1	46795055	1.000000	0.71417	0.875000	0.34327	0.860000	0.49131	8.780000	0.91799	2.589000	0.87451	0.655000	0.94253	CAT	PREX1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.493	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47361648	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	A
RGR	5995	genome.wustl.edu	37	10	86008021	86008021	+	Intron	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr10:86008021G>T	ENST00000359452.4	+	2	274				RGR_ENST00000358110.5_Intron|RGR_ENST00000372092.3_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AGGATAAGAGGCAGGGAGGGG	0.473																																					NSCLC(15;204 545 5889 6385 32445)												0																																										SO:0001627	intron_variant	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.236+518G>T	10.37:g.86008021G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-		0.473	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	G	NM_002921		86008021	+1	no_errors	ENST00000483771	ensembl	human	known	70_37	rna	SNP	0.979	T
RNF113A	7737	genome.wustl.edu	37	X	119004829	119004829	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:119004829C>G	ENST00000371442.2	-	1	962	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	250							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTTCCCACTTCATAGTTTTCA	0.468																																																	0													130.0	118.0	122.0					X																	119004829		2203	4300	6503	SO:0001583	missense	7737			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.748G>C	X.37:g.119004829C>G	ENSP00000360497:p.Glu250Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.E250Q	ENST00000371442.2	37	c.748	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093675	0.76870	.	.	ENSG00000125352	ENST00000371442	T	0.35605	1.3	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.80508	2.5	0.58432	D	0.999998	D	0.69078	0.997	P	0.58391	0.838	T	0.62215	-0.6901	10	0.59425	D	0.04	-19.3287	13.3679	0.60696	0.0:0.8451:0.1549:0.0	.	250	O15541	R113A_HUMAN	Q	250	ENSP00000360497:E250Q	ENSP00000360497:E250Q	E	-	1	0	RNF113A	118888857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.285000	0.78660	1.167000	0.42706	0.600000	0.82982	GAA	RNF113A	-	NULL		0.468	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	C	NM_006978		119004829	-1	no_errors	ENST00000371442	ensembl	human	known	70_37	missense	SNP	1.000	G
RSF1	51773	genome.wustl.edu	37	11	77436745	77436745	+	Splice_Site	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:77436745C>G	ENST00000308488.6	-	5	881		c.e5-1		RSF1_ENST00000360355.2_Splice_Site			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1						CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTTTCGATTTCTAAACAAGGA	0.328																																																	0													71.0	65.0	67.0					11																	77436745		2199	4292	6491	SO:0001630	splice_region_variant	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.579-1G>C	11.37:g.77436745C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Splice_Site	SNP	-	e5-1	ENST00000308488.6	37	c.579-1	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648774	0.67358	.	.	ENSG00000048649	ENST00000308488;ENST00000360355;ENST00000528095;ENST00000440064	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8095	0.96541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSF1	77114393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.775000	0.95449	0.650000	0.86243	.	RSF1	-	-		0.328	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	C	NM_016578	Intron	77436745	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SELL	6402	genome.wustl.edu	37	1	169670640	169670640	+	5'UTR	DEL	T	T	-			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:169670640delT	ENST00000463108.1	-	0	1341				C1orf112_ENST00000498289.1_Intron|SELL_ENST00000236147.4_Intron			P14151	LYAM1_HUMAN	selectin L						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGTGGGTTTCTTTTTTTTTTC	0.358																																																	0																																										SO:0001623	5_prime_UTR_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000463108.1:c.-5A>-	1.37:g.169670640delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Q8|P15023|Q9UJ43	RNA	DEL	-	NULL	ENST00000463108.1	37	NULL		1																																																																																			SELL	-	-		0.358	SELL-002	KNOWN	basic	processed_transcript	SELL	HGNC	protein_coding	OTTHUMT00000084281.1	T	NM_000655		169670640	-1	no_errors	ENST00000463108	ensembl	human	known	70_37	rna	DEL	0.017	-
SETX	23064	genome.wustl.edu	37	9	135205161	135205161	+	Silent	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:135205161C>G	ENST00000224140.5	-	10	2006	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	SETX_ENST00000393220.1_Silent_p.L608L|SETX_ENST00000372169.2_Silent_p.L608L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	608					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGCAGAAGTCAGATCCACAA	0.358																																																	0													69.0	63.0	65.0					9																	135205161		2203	4299	6502	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1824G>C	9.37:g.135205161C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.L608	ENST00000224140.5	37	c.1824	CCDS6947.1	9																																																																																			SETX	-	NULL		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	C	NM_015046		135205161	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	0.007	G
SH2B1	25970	genome.wustl.edu	37	16	28877623	28877623	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr16:28877623G>C	ENST00000322610.8	+	4	647	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.E70Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.E70Q|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.E70Q|RP11-22P6.2_ENST00000567731.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	70	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for self-association.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCGTTTTGCTGAGCTCTTCCT	0.677																																																	0													23.0	25.0	24.0					16																	28877623		2197	4299	6496	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.208G>C	16.37:g.28877623G>C	ENSP00000321221:p.Glu70Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.E70Q	ENST00000322610.8	37	c.208	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512091	0.44660	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.48522	0.81;0.81;0.82;0.82	4.71	4.71	0.59529	Phenylalanine zipper (2);	0.073308	0.52532	D	0.000061	T	0.39410	0.1077	N	0.08118	0	0.28945	N	0.890775	P;P;D	0.53619	0.952;0.952;0.961	P;P;P	0.51866	0.549;0.549;0.682	T	0.34750	-0.9816	10	0.33141	T	0.24	-16.8952	16.4238	0.83808	0.0:0.0:1.0:0.0	.	70;70;70	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	70	ENSP00000321221:E70Q;ENSP00000352232:E70Q;ENSP00000378903:E70Q;ENSP00000337163:E70Q	ENSP00000321221:E70Q	E	+	1	0	SH2B1	28785124	0.993000	0.37304	1.000000	0.80357	0.783000	0.44284	2.103000	0.41806	2.163000	0.67991	0.455000	0.32223	GAG	SH2B1	-	pfam_Phe_ZIP,superfamily_Phe_ZIP		0.677	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28877623	+1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	1.000	C
SHBG	6462	genome.wustl.edu	37	17	7533799	7533799	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:7533799G>C	ENST00000380450.4	+	2	208	c.177G>C	c.(175-177)atG>atC	p.M59I	SHBG_ENST00000575314.1_Start_Codon_SNP_p.M1I|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000576478.1_Start_Codon_SNP_p.M1I|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000416273.3_Missense_Mutation_p.M59I|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000572182.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000441599.2_Missense_Mutation_p.M59I|SHBG_ENST00000574539.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000575903.1_Missense_Mutation_p.M59I|SHBG_ENST00000576728.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000570547.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000572262.1_Start_Codon_SNP_p.M1I|SHBG_ENST00000340624.5_Start_Codon_SNP_p.M1I	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	59	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	TCGCTGTCATGACCTTTGACC	0.537																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											140.0	125.0	130.0					17																	7533799		2203	4300	6503	SO:0001583	missense	6462				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.177G>C	17.37:g.7533799G>C	ENSP00000369816:p.Met59Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.M59I	ENST00000380450.4	37	c.177	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578782	0.28180	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	D;T;T;T	0.87809	-2.3;-1.16;-1.16;-1.16	4.48	3.51	0.40186	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.161565	0.56097	D	0.000040	D	0.83977	0.5371	M	0.72118	2.19	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.27656	0.099;0.099;0.013;0.038;0.033;0.067;0.024;0.024;0.184;0.06;0.024	B;B;B;B;B;B;B;B;B;B;B	0.22880	0.032;0.032;0.015;0.017;0.03;0.008;0.005;0.007;0.042;0.014;0.007	T	0.81070	-0.1099	10	0.62326	D	0.03	-5.7864	8.5355	0.33360	0.11:0.0:0.89:0.0	.	59;54;32;59;59;59;32;32;32;59;1	F5H5Z8;P04278-2;B0FWH6;E9PH59;E9PGW1;E9PGQ3;B0FWH7;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;.;.;.;SHBG_HUMAN;.	I	1;59;59;59;59;59	ENSP00000345675:M1I;ENSP00000393426:M59I;ENSP00000388867:M59I;ENSP00000369816:M59I	ENSP00000345675:M1I	M	+	3	0	SHBG	7474524	0.179000	0.23135	0.414000	0.26521	0.416000	0.31233	0.272000	0.18644	0.881000	0.35993	0.561000	0.74099	ATG	SHBG	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.537	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	G	NM_001040		7533799	+1	no_errors	ENST00000380450	ensembl	human	known	70_37	missense	SNP	0.951	C
SLC27A5	10998	genome.wustl.edu	37	19	59010279	59010279	+	Missense_Mutation	SNP	C	C	G	rs138205034		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr19:59010279C>G	ENST00000263093.2	-	9	1878	c.1769G>C	c.(1768-1770)tGt>tCt	p.C590S	SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.C506S|SLC27A5_ENST00000599700.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	590					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTTACCCTCACAACCTAGAGA	0.627																																																	0													50.0	50.0	50.0					19																	59010279		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1769G>C	19.37:g.59010279C>G	ENSP00000263093:p.Cys590Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.C590S	ENST00000263093.2	37	c.1769	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644242	0.47258	.	.	ENSG00000083807	ENST00000263093	T	0.46819	0.86	4.99	3.94	0.45596	.	0.222466	0.48286	D	0.000187	T	0.38427	0.1040	L	0.40543	1.245	0.36613	D	0.875314	P	0.41710	0.76	B	0.43331	0.416	T	0.30822	-0.9965	10	0.23302	T	0.38	-13.1806	8.633	0.33930	0.0:0.8966:0.0:0.1034	.	590	Q9Y2P5	S27A5_HUMAN	S	590	ENSP00000263093:C590S	ENSP00000263093:C590S	C	-	2	0	SLC27A5	63702091	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.487000	0.53222	2.470000	0.83445	0.650000	0.86243	TGT	SLC27A5	-	NULL		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59010279	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC41A1	254428	genome.wustl.edu	37	1	205764045	205764045	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:205764045G>T	ENST00000367137.3	-	10	2323	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	437					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATGAGTGTGAGGGTGGTGTGC	0.582																																																	0													100.0	89.0	92.0					1																	205764045		2203	4300	6503	SO:0001583	missense	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1309C>A	1.37:g.205764045G>T	ENSP00000356105:p.Leu437Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.L437I	ENST00000367137.3	37	c.1309	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702321	0.68501	.	.	ENSG00000133065	ENST00000367137	T	0.33865	1.39	5.71	5.71	0.89125	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.16130	0.375	0.80722	D	1	B	0.29508	0.246	B	0.37091	0.241	T	0.07868	-1.0750	10	0.18710	T	0.47	-1.1526	19.4413	0.94821	0.0:0.0:1.0:0.0	.	437	Q8IVJ1	S41A1_HUMAN	I	437	ENSP00000356105:L437I	ENSP00000356105:L437I	L	-	1	0	SLC41A1	204030668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.943000	0.87716	2.704000	0.92352	0.655000	0.94253	CTC	SLC41A1	-	pfam_MgtE_Mg_transptr_membr		0.582	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	G			205764045	-1	no_errors	ENST00000367137	ensembl	human	known	70_37	missense	SNP	1.000	T
SMC4	10051	genome.wustl.edu	37	3	160142730	160142730	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr3:160142730G>A	ENST00000357388.3	+	16	2852	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	SMC4_ENST00000469762.1_Missense_Mutation_p.E776K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E801K|SMC4_ENST00000462787.1_Missense_Mutation_p.E801K|SMC4_ENST00000360111.2_Missense_Mutation_p.E801K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	801					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTACAACTTGAAGAAAGAGT	0.368																																																	0													111.0	99.0	103.0					3																	160142730		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2401G>A	3.37:g.160142730G>A	ENSP00000349961:p.Glu801Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.E801K	ENST00000357388.3	37	c.2401	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.896725	0.97081	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.76186	-1.0;-1.0;-0.98;-1.0;-1.0	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.86178	2.8	0.80722	D	1	D;P;D;D	0.89917	1.0;0.95;0.999;0.999	D;P;D;D	0.83275	0.992;0.84;0.996;0.984	D	0.88063	0.2795	10	0.49607	T	0.09	-29.9133	19.9187	0.97077	0.0:0.0:1.0:0.0	.	801;776;776;801	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	801;801;776;801;801;395	ENSP00000349961:E801K;ENSP00000353225:E801K;ENSP00000417964:E776K;ENSP00000420734:E801K;ENSP00000341382:E801K	ENSP00000341382:E801K	E	+	1	0	SMC4	161625424	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.479000	0.90431	2.702000	0.92279	0.591000	0.81541	GAA	SMC4	-	pfam_RecF/RecN/SMC,superfamily_Chemotax_Me-accpt_rcpt_lig-bd		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160142730	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	A
SRMS	6725	genome.wustl.edu	37	20	62178640	62178640	+	Silent	SNP	G	G	C	rs36032098		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr20:62178640G>C	ENST00000217188.1	-	1	217	c.177C>G	c.(175-177)ctC>ctG	p.L59L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	59	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGAAGTCATAGAGCGCAAGGA	0.697																																																	0													168.0	169.0	168.0					20																	62178640		2188	4266	6454	SO:0001819	synonymous_variant	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.177C>G	20.37:g.62178640G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L59	ENST00000217188.1	37	c.177	CCDS13525.1	20																																																																																			SRMS	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	G	NM_080823		62178640	-1	no_errors	ENST00000217188	ensembl	human	known	70_37	silent	SNP	0.454	C
SWAP70	23075	genome.wustl.edu	37	11	9759861	9759861	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr11:9759861G>T	ENST00000318950.6	+	8	1285	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SWAP70_ENST00000447399.2_Missense_Mutation_p.E336D	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	394					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGAAAGAGAGAAGCTTGTGA	0.537																																																	0													55.0	52.0	53.0					11																	9759861		2201	4294	6495	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1182G>T	11.37:g.9759861G>T	ENSP00000315630:p.Glu394Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology	p.E394D	ENST00000318950.6	37	c.1182	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164703	0.57476	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.22743	1.94;1.94	5.27	2.35	0.29111	.	0.107189	0.64402	D	0.000002	T	0.29288	0.0729	L	0.32530	0.975	0.46317	D	0.998986	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.78314	0.987;0.991;0.978	T	0.01195	-1.1422	10	0.38643	T	0.18	-25.0792	8.2414	0.31662	0.3185:0.0:0.6815:0.0	.	336;394;336	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	D	336;394	ENSP00000399056:E336D;ENSP00000315630:E394D	ENSP00000315630:E394D	E	+	3	2	SWAP70	9716437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.294000	0.43567	0.304000	0.22809	0.585000	0.79938	GAG	SWAP70	-	NULL		0.537	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2	G	NM_015055		9759861	+1	no_errors	ENST00000318950	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS1R2	80834	genome.wustl.edu	37	1	19181144	19181144	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:19181144C>T	ENST00000375371.3	-	3	841	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	274					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)	p.V274M(1)		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)	GGCGAGAACACGACCACGACG	0.627																																																	1	Substitution - Missense(1)	lung(1)											70.0	61.0	64.0					1																	19181144		2203	4300	6503	SO:0001583	missense	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.820G>A	1.37:g.19181144C>T	ENSP00000364520:p.Val274Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.V274M	ENST00000375371.3	37	c.820	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830089	0.50845	.	.	ENSG00000179002	ENST00000375371	D	0.83755	-1.76	4.99	-3.83	0.04269	Extracellular ligand-binding receptor (1);	0.856575	0.09782	N	0.756542	D	0.86957	0.6058	M	0.81682	2.555	0.19300	N	0.999979	D	0.69078	0.997	P	0.58130	0.833	T	0.80336	-0.1425	10	0.87932	D	0	.	8.5563	0.33483	0.0:0.3452:0.4546:0.2002	.	274	Q8TE23	TS1R2_HUMAN	M	274	ENSP00000364520:V274M	ENSP00000364520:V274M	V	-	1	0	TAS1R2	19053731	0.117000	0.22190	0.000000	0.03702	0.349000	0.29174	0.675000	0.25232	-0.997000	0.03450	0.561000	0.74099	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	C			19181144	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	missense	SNP	0.087	T
TAF5L	27097	genome.wustl.edu	37	1	229730463	229730463	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:229730463G>C	ENST00000366676.1	-	4	1350	c.1351C>G	c.(1351-1353)Cgg>Ggg	p.R451G	TAF5L_ENST00000258281.2_Missense_Mutation_p.R451G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	451					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCCACAGCCGGACGGTCTTG	0.572																																																	0													85.0	88.0	87.0					1																	229730463		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1351C>G	1.37:g.229730463G>C	ENSP00000355636:p.Arg451Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R451G	ENST00000366676.1	37	c.1351	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204929	0.38905	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.67865	-0.29;-0.29	5.97	3.07	0.35406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.87038	2.855	0.58432	D	0.999998	D	0.56287	0.975	P	0.60682	0.878	T	0.77448	-0.2584	10	0.72032	D	0.01	-25.7391	7.042	0.25025	0.1306:0.0:0.6217:0.2478	.	451	O75529	TAF5L_HUMAN	G	451	ENSP00000355636:R451G;ENSP00000258281:R451G	ENSP00000258281:R451G	R	-	1	2	TAF5L	227797086	1.000000	0.71417	0.442000	0.26870	0.171000	0.22731	3.243000	0.51392	0.402000	0.25451	0.655000	0.94253	CGG	TAF5L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.572	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	G	NM_014409		229730463	-1	no_errors	ENST00000258281	ensembl	human	known	70_37	missense	SNP	0.963	C
TBC1D16	125058	genome.wustl.edu	37	17	77921464	77921464	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr17:77921464C>G	ENST00000310924.2	-	9	1823	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195Q|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208Q|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209Q|TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208Q	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	570	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCATGTCCTCGTCCCGGGGT	0.612																																					Ovarian(14;397 562 4850 31922 49378)												0													147.0	110.0	123.0					17																	77921464		2203	4300	6503	SO:0001583	missense	125058			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1708G>C	17.37:g.77921464C>G	ENSP00000309794:p.Glu570Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E570Q	ENST00000310924.2	37	c.1708	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351949	0.41700	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04603	3.59;3.59	5.57	5.57	0.84162	Rab-GAP/TBC domain (5);	0.046101	0.85682	D	0.000000	T	0.05593	0.0147	N	0.11892	0.195	0.80722	D	1	B;P;P;B	0.35433	0.446;0.501;0.501;0.26	B;B;B;B	0.41571	0.36;0.337;0.337;0.185	T	0.57957	-0.7721	10	0.25751	T	0.34	-30.4184	19.5469	0.95302	0.0:1.0:0.0:0.0	.	230;570;570;208	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	Q	208;570	ENSP00000341517:E208Q;ENSP00000309794:E570Q	ENSP00000309794:E570Q	E	-	1	0	TBC1D16	75536059	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.472000	0.80996	2.619000	0.88677	0.561000	0.74099	GAG	TBC1D16	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.612	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	C	NM_019020		77921464	-1	no_errors	ENST00000310924	ensembl	human	known	70_37	missense	SNP	1.000	G
TCEANC	170082	genome.wustl.edu	37	X	13682531	13682531	+	3'UTR	SNP	C	C	G			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chrX:13682531C>G	ENST00000380600.1	+	0	1991				TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTTTTCCCCTCTCTTTTCTCA	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.*848C>G	X.37:g.13682531C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI06|B2RDM3	RNA	SNP	-	NULL	ENST00000380600.1	37	NULL		X																																																																																			TCEANC	-	-		0.418	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	C	NM_152634		13682531	+1	no_errors	ENST00000490617	ensembl	human	known	70_37	rna	SNP	0.000	G
TCF21	6943	genome.wustl.edu	37	6	134212865	134212865	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr6:134212865G>T	ENST00000367882.4	+	2	725	c.465G>T	c.(463-465)atG>atT	p.M155I	RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.M155I|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	155					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGCCCTTTATGGTGGCCGGGA	0.627																																																	0													45.0	45.0	45.0					6																	134212865		2203	4300	6503	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.465G>T	6.37:g.134212865G>T	ENSP00000356857:p.Met155Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.M155I	ENST00000367882.4	37	c.465	CCDS5167.1	6	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443566	0.43429	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96073	-3.9;-3.9	5.63	4.74	0.60224	Helix-loop-helix DNA-binding (1);	0.081437	0.85682	D	0.000000	D	0.89438	0.6715	L	0.50333	1.59	0.53688	D	0.999976	B	0.19200	0.034	B	0.11329	0.006	D	0.86215	0.1627	10	0.20046	T	0.44	-22.7994	16.4148	0.83730	0.0:0.1317:0.8683:0.0	.	155	O43680	TCF21_HUMAN	I	155	ENSP00000356857:M155I;ENSP00000237316:M155I	ENSP00000237316:M155I	M	+	3	0	TCF21	134254558	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.777000	0.85628	1.346000	0.45694	0.650000	0.86243	ATG	TCF21	-	superfamily_HLH_dom		0.627	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	G	NM_198392		134212865	+1	no_errors	ENST00000237316	ensembl	human	known	70_37	missense	SNP	1.000	T
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q701P4|Q71RF1	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1	-	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44524456	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	missense	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216138814	216138814	+	Missense_Mutation	SNP	T	T	C			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr1:216138814T>C	ENST00000307340.3	-	37	7351	c.6965A>G	c.(6964-6966)aAt>aGt	p.N2322S	USH2A_ENST00000366943.2_Missense_Mutation_p.N2322S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2322	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAGTTCGATTTTCCACCTG	0.398										HNSCC(13;0.011)																																							0													102.0	103.0	102.0					1																	216138814		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6965A>G	1.37:g.216138814T>C	ENSP00000305941:p.Asn2322Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N2322S	ENST00000307340.3	37	c.6965	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328482	0.24167	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.56	5.56	0.83823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.295265	0.24195	N	0.040677	T	0.28797	0.0714	N	0.13098	0.295	0.24176	N	0.995607	D	0.53151	0.958	B	0.40825	0.341	T	0.13072	-1.0523	10	0.21014	T	0.42	.	11.5237	0.50567	0.0:0.0:0.2669:0.7331	.	2322	O75445	USH2A_HUMAN	S	2322	ENSP00000305941:N2322S;ENSP00000355910:N2322S	ENSP00000305941:N2322S	N	-	2	0	USH2A	214205437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.005000	0.40864	2.241000	0.73720	0.533000	0.62120	AAT	USH2A	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	T	NM_007123		216138814	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	C
WDHD1	11169	genome.wustl.edu	37	14	55422403	55422403	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr14:55422403C>A	ENST00000360586.3	-	24	2991	c.2926G>T	c.(2926-2928)Gca>Tca	p.A976S	WDHD1_ENST00000420358.2_Missense_Mutation_p.A853S|WDHD1_ENST00000421192.1_Missense_Mutation_p.A853S|WDHD1_ENST00000359167.4_Missense_Mutation_p.A494S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	976					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAATAGGATGCTGCAGATGCC	0.294																																																	0													66.0	66.0	66.0					14																	55422403		2203	4297	6500	SO:0001583	missense	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2926G>T	14.37:g.55422403C>A	ENSP00000353793:p.Ala976Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A976S	ENST00000360586.3	37	c.2926	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135877	0.37728	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.63913	0.29;0.78;-0.07	4.71	3.79	0.43588	.	0.763319	0.11901	N	0.518657	T	0.47783	0.1464	L	0.34521	1.04	0.31271	N	0.691728	B;B	0.27656	0.184;0.023	B;B	0.24974	0.057;0.011	T	0.44174	-0.9345	10	0.14252	T	0.57	.	10.7886	0.46419	0.0:0.9025:0.0:0.0975	.	494;976	F8W7P7;O75717	.;WDHD1_HUMAN	S	976;494;853	ENSP00000353793:A976S;ENSP00000352085:A494S;ENSP00000391049:A853S	ENSP00000352085:A494S	A	-	1	0	WDHD1	54492153	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.474000	0.45154	2.314000	0.78098	0.563000	0.77884	GCA	WDHD1	-	NULL		0.294	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	C	NM_007086		55422403	-1	no_errors	ENST00000360586	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF484	83744	genome.wustl.edu	37	9	95608983	95608983	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69L-01A-11D-A32I-09	TCGA-EX-A69L-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfb312b-35be-4631-be58-94556dbe866c	8da1f60a-7dd4-4e44-b983-5d8dcd9404fd	g.chr9:95608983C>T	ENST00000375495.3	-	5	2234	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ZNF484_ENST00000395506.3_Missense_Mutation_p.E698K|ZNF484_ENST00000395505.2_Missense_Mutation_p.E660K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E660K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	696					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCCCACATTCACTGCACTCA	0.393																																																	0													70.0	74.0	73.0					9																	95608983		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2086G>A	9.37:g.95608983C>T	ENSP00000364645:p.Glu696Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL89|B4DRI2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E698K	ENST00000375495.3	37	c.2092	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	11.18	1.563958	0.27915	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	L	0.58302	1.8	0.25893	N	0.983458	B;B	0.17667	0.023;0.011	B;B	0.16289	0.015;0.004	T	0.12268	-1.0554	9	0.49607	T	0.09	.	10.7577	0.46247	0.0:1.0:0.0:0.0	.	698;696	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	660;698;696;660	ENSP00000378881:E660K;ENSP00000378882:E698K;ENSP00000364645:E696K;ENSP00000364646:E660K	ENSP00000364646:E660K	E	-	1	0	ZNF484	94648804	0.000000	0.05858	0.993000	0.49108	0.989000	0.77384	-0.027000	0.12371	1.596000	0.50062	0.551000	0.68910	GAA	ZNF484	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95608983	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.987	T
