#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA1	19	genome.wustl.edu	37	9	107584791	107584791	+	Silent	SNP	C	C	A	rs9282546	byFrequency	TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr9:107584791C>A	ENST00000374736.3	-	19	3208	c.2814G>T	c.(2812-2814)ggG>ggT	p.G938G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	938	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGGTCGTCTTCCCCGCTCCAT	0.507																																						dbGAP											0													130.0	121.0	124.0					9																	107584791		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2814G>T	9.37:g.107584791C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G938	ENST00000374736.3	37	c.2814	CCDS6762.1	9																																																																																			ABCA1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000165029		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	56	0.00	0	C	NM_005502		107584791	107584791	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	silent	47	40.51	32	SNP	0.990	A
ACAN	176	genome.wustl.edu	37	15	89400043	89400043	+	Missense_Mutation	SNP	G	G	C	rs28559926	byFrequency	TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr15:89400043G>C	ENST00000561243.1	+	11	4227	c.4227G>C	c.(4225-4227)gaG>gaC	p.E1409D	ACAN_ENST00000352105.7_Missense_Mutation_p.E1409D|ACAN_ENST00000439576.2_Missense_Mutation_p.E1409D|ACAN_ENST00000559004.1_Missense_Mutation_p.E1409D			P16112	PGCA_HUMAN	aggrecan	1409	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGTAGAGGAGATCAGCGGGC	0.532													-|||	593	0.118411	0.3116	0.0548	5008	,	,		16522	0.0288		0.0348	False		,,,				2504	0.0808					dbGAP											0													78.0	80.0	79.0					15																	89400043		1765	4061	5826	-	-	-	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4227G>C	15.37:g.89400043G>C	ENSP00000453342:p.Glu1409Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E1409D	ENST00000561243.1	37	c.4227	CCDS53970.1	15	286	0.13095238095238096	131	0.266260162601626	33	0.09116022099447514	53	0.09265734265734266	69	0.09102902374670185	-	8.752	0.921544	0.17982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.92647	-3.08;-3.08	3.44	-4.2	0.03823	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B;B	0.11235	0.002;0.004	B;B	0.10450	0.005;0.004	T	0.28586	-1.0039	7	0.02654	T	1	.	0.893	0.01257	0.2137:0.3038:0.2582:0.2243	rs28559926;rs61593490	1409;1409	E7ENV9;E7EX88	.;.	D	1409;1409;1295	ENSP00000387356:E1409D;ENSP00000341615:E1409D	ENSP00000268134:E1295D	E	+	3	2	ACAN	87201047	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-4.411000	0.00238	-1.257000	0.02475	-1.278000	0.01390	GAG	ACAN	-	NULL	ENSG00000157766		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	21	0.00	0	G	NM_001135		89400043	89400043	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.000	C
ADNP2	22850	genome.wustl.edu	37	18	77894253	77894253	+	Silent	SNP	C	C	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr18:77894253C>A	ENST00000262198.4	+	4	1412	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	319	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGGAAGCCTCACTCATTCCC	0.642																																						dbGAP											0													69.0	70.0	69.0					18																	77894253		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.957C>A	18.37:g.77894253C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.L319	ENST00000262198.4	37	c.957	CCDS32853.1	18																																																																																			ADNP2	-	NULL	ENSG00000101544		0.642	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	62	0.00	0	C	NM_014913		77894253	77894253	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	silent	58	35.56	32	SNP	0.001	A
ALMS1P	200420	genome.wustl.edu	37	2	73912256	73912256	+	RNA	SNP	G	G	A	rs368610477		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr2:73912256G>A	ENST00000450720.1	+	0	1154					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GCCTGGGAAGGTTTTCTAATC	0.507																																						dbGAP											0													16.0	17.0	16.0					2																	73912256		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73912256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.507	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	33	0.00	0	G	NR_003683		73912256	73912256	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	32	15.79	6	SNP	0.001	A
BTNL8	79908	genome.wustl.edu	37	5	180374624	180374624	+	Splice_Site	SNP	G	G	T	rs532378819		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr5:180374624G>T	ENST00000340184.4	+	4	992	c.786G>T	c.(784-786)caG>caT	p.Q262H	BTNL8_ENST00000508408.1_Missense_Mutation_p.Q262H|BTNL8_ENST00000533815.2_Splice_Site_p.Q78H|BTNL8_ENST00000400707.3_Splice_Site_p.Q137H|BTNL8_ENST00000511704.1_Splice_Site_p.Q146H|BTNL8_ENST00000505126.1_Splice_Site_p.Q55H|BTNL8_ENST00000231229.4_Missense_Mutation_p.Q262H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	262					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAATTCCAGTGTAAGCGAG	0.488																																						dbGAP											0													239.0	243.0	242.0					5																	180374624		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+1G>T	5.37:g.180374624G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Splice_Site	SNP	-	e2-1	ENST00000340184.4	37	c.122-1	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	G	2.795	-0.250398	0.05867	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.60299	4.77;1.32;0.64;4.78;0.63;0.2;0.22	1.52	-2.02	0.07388	.	.	.	.	.	T	0.46171	0.1379	L	0.34521	1.04	0.09310	N	1	P;P;D;D;P	0.56521	0.875;0.952;0.976;0.976;0.804	B;B;P;B;B	0.50708	0.198;0.302;0.648;0.333;0.133	T	0.34004	-0.9846	9	0.33940	T	0.23	.	2.7345	0.05236	0.3777:0.2537:0.3686:0.0	.	137;146;262;262;262	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	H	262;262;137;262;146;55;78	ENSP00000231229:Q262H;ENSP00000342197:Q262H;ENSP00000383543:Q137H;ENSP00000424585:Q262H;ENSP00000425207:Q146H;ENSP00000427441:Q55H;ENSP00000435098:Q78H	ENSP00000231229:Q262H	Q	+	3	2	BTNL8	180307230	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.491000	0.06474	-0.685000	0.05177	0.436000	0.28706	CAG	BTNL8	-	-	ENSG00000113303		0.488	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	HGNC	protein_coding	OTTHUMT00000368440.1	21	0.00	0	G	NM_024850	Missense_Mutation	180374624	180374624	+1	no_errors	ENST00000503543	ensembl	human	known	69_37n	splice_site	32	27.27	12	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68772218	68772218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr16:68772218C>T	ENST00000261769.5	+	2	258	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q23*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	23					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.V17fs*1(3)|p.?(2)|p.W20fs*7(1)|p.Q23*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTGGCTCTGCCAGGAGCCGGA	0.677			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Deletion - Frameshift(4)|Unknown(2)|Substitution - Nonsense(1)	breast(7)											14.0	17.0	16.0					16																	68772218		1763	3312	5075	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.67C>T	16.37:g.68772218C>T	ENSP00000261769:p.Gln23*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q23*	ENST00000261769.5	37	c.67	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175447	0.78564	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	4.76	1.47	0.22746	.	0.000000	0.34652	N	0.003783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.0323	0.58848	0.0:0.551:0.449:0.0	.	.	.	.	X	23	.	ENSP00000261769:Q23X	Q	+	1	0	CDH1	67329719	0.998000	0.40836	0.961000	0.40146	0.242000	0.25591	0.719000	0.25881	0.574000	0.29417	0.563000	0.77884	CAG	CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.677	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	96	0.00	0	C	NM_004360		68772218	68772218	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	43	51.69	46	SNP	0.982	T
CDKAL1	54901	genome.wustl.edu	37	6	21065365	21065365	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr6:21065365T>C	ENST00000378610.1	+	10	1152	c.1142T>C	c.(1141-1143)gTt>gCt	p.V381A	CDKAL1_ENST00000274695.4_Missense_Mutation_p.V381A|CDKAL1_ENST00000378624.4_Missense_Mutation_p.V311A			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	381					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTGAAACTTGTTGAAGAGTAC	0.373																																						dbGAP											0													103.0	102.0	102.0					6																	21065365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1142T>C	6.37:g.21065365T>C	ENSP00000367873:p.Val381Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.V381A	ENST00000378610.1	37	c.1142	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880314	0.91740	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.80994	-1.44;-1.44;-1.44	5.87	5.87	0.94306	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.66297	2.02	0.58432	D	0.999998	D;P	0.54964	0.969;0.949	P;P	0.56343	0.672;0.796	D	0.85914	0.1442	10	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	311;381	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	A	381;311;381	ENSP00000274695:V381A;ENSP00000367889:V311A;ENSP00000367873:V381A	ENSP00000274695:V381A	V	+	2	0	CDKAL1	21173344	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GTT	CDKAL1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.373	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	49	0.00	0	T	NM_017774		21065365	21065365	+1	no_errors	ENST00000274695	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	1.000	C
CLASP2	23122	genome.wustl.edu	37	3	33552254	33552254	+	Silent	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr3:33552254C>T	ENST00000468888.2	-	37	4183	c.4137G>A	c.(4135-4137)gtG>gtA	p.V1379V	CLASP2_ENST00000307312.7_Silent_p.V860V|CLASP2_ENST00000480013.1_Silent_p.V1158V|CLASP2_ENST00000359576.5_Silent_p.V1370V|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Silent_p.V1138V|CLASP2_ENST00000399362.4_Silent_p.V1378V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1159					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGATCTCACCACCTAAAAAA	0.363																																						dbGAP											0													44.0	37.0	39.0					3																	33552254		1911	4118	6029	-	-	-	SO:0001819	synonymous_variant	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4137G>A	3.37:g.33552254C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V1378	ENST00000468888.2	37	c.4134		3																																																																																			CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.363	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	31	0.00	0	C	NM_001207044		33552254	33552254	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	silent	27	40.00	18	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111500	8111500	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr10:8111500G>A	ENST00000346208.3	+	5	1441	c.986G>A	c.(985-987)aGg>aAg	p.R329K	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.R330K			P23771	GATA3_HUMAN	GATA binding protein 3	329					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACACTCTGGAGGAGGAATGCC	0.552			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													177.0	125.0	143.0					10																	8111500		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.986G>A	10.37:g.8111500G>A	ENSP00000341619:p.Arg329Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.R330K	ENST00000346208.3	37	c.989	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.547649	0.96488	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99884	-7.49;-7.49	5.21	5.21	0.72293	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96003	0.8995	10	0.87932	D	0	-21.5759	19.1275	0.93391	0.0:0.0:1.0:0.0	.	329;330	P23771;P23771-2	GATA3_HUMAN;.	K	330;329	ENSP00000368632:R330K;ENSP00000341619:R329K	ENSP00000341619:R329K	R	+	2	0	GATA3	8151506	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.590000	0.87494	0.561000	0.74099	AGG	GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.552	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	84	0.00	0	G	NM_001002295		8111500	8111500	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	missense	76	27.62	29	SNP	1.000	A
GPR101	83550	genome.wustl.edu	37	X	136113330	136113330	+	Silent	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chrX:136113330G>A	ENST00000298110.1	-	1	503	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607																																						dbGAP											0													45.0	39.0	41.0					X																	136113330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.504C>T	X.37:g.136113330G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSM8|Q8NG93	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.Y168	ENST00000298110.1	37	c.504	CCDS14662.1	X																																																																																			GPR101	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165370		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	39	0.00	0	G			136113330	136113330	-1	no_errors	ENST00000298110	ensembl	human	known	69_37n	silent	39	37.10	23	SNP	0.882	A
GPR139	124274	genome.wustl.edu	37	16	20043437	20043437	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr16:20043437C>T	ENST00000570682.1	-	2	982	c.682G>A	c.(682-684)Gcc>Acc	p.A228T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	228					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A228T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AACAAGATGGCGGTGGTCTTC	0.527																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											83.0	88.0	86.0					16																	20043437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.682G>A	16.37:g.20043437C>T	ENSP00000458791:p.Ala228Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A228T	ENST00000570682.1	37	c.682	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630864	0.87660	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76305	-0.3008	9	0.66056	D	0.02	-41.5487	18.6361	0.91379	0.0:1.0:0.0:0.0	.	228	Q6DWJ6	GP139_HUMAN	T	228	.	ENSP00000370779:A228T	A	-	1	0	GPR139	19950938	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	7.484000	0.81180	2.637000	0.89404	0.655000	0.94253	GCC	GPR139	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180269		0.527	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	32	0.00	0	C	NM_001002911		20043437	20043437	-1	no_errors	ENST00000570682	ensembl	human	known	69_37n	missense	57	26.92	21	SNP	1.000	T
GPR161	23432	genome.wustl.edu	37	1	168056825	168056825	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:168056825T>C	ENST00000367838.1	-	7	1635	c.1322A>G	c.(1321-1323)aAa>aGa	p.K441R	GPR161_ENST00000367836.1_Missense_Mutation_p.K309R|GPR161_ENST00000546300.1_Missense_Mutation_p.K327R|GPR161_ENST00000539777.1_Missense_Mutation_p.K363R|GPR161_ENST00000361697.2_Missense_Mutation_p.K441R|GPR161_ENST00000537209.1_Missense_Mutation_p.K461R|GPR161_ENST00000271357.5_Missense_Mutation_p.K441R|GPR161_ENST00000367835.1_Missense_Mutation_p.K441R	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	441					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AAGCCAACCTTTGATTTGTTC	0.488																																						dbGAP											0													195.0	187.0	190.0					1																	168056825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1322A>G	1.37:g.168056825T>C	ENSP00000356812:p.Lys441Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.K461R	ENST00000367838.1	37	c.1382	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421550	0.43020	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82344	-0.13;-0.13;-1.6;-0.13;-1.13;-1.11;-0.05;-0.13	5.61	3.3	0.37823	.	0.159168	0.56097	N	0.000034	T	0.60818	0.2298	L	0.44542	1.39	0.32615	N	0.524131	B;B;B;B;B	0.12013	0.001;0.002;0.005;0.004;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.004;0.004;0.001	T	0.49457	-0.8938	9	0.36615	T	0.2	-9.5964	9.7731	0.40603	0.0:0.1399:0.0:0.8601	.	461;327;363;461;441	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	R	441;441;309;441;327;363;461;441	ENSP00000356812:K441R;ENSP00000271357:K441R;ENSP00000356810:K309R;ENSP00000356809:K441R;ENSP00000444348:K327R;ENSP00000437576:K363R;ENSP00000441039:K461R;ENSP00000355194:K441R	ENSP00000271357:K441R	K	-	2	0	GPR161	166323449	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	2.853000	0.48317	0.413000	0.25759	0.459000	0.35465	AAA	GPR161	-	NULL	ENSG00000143147		0.488	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	49	0.00	0	T	NM_007369		168056825	168056825	-1	no_errors	ENST00000537209	ensembl	human	known	69_37n	missense	129	17.83	28	SNP	1.000	C
HOXB2	3212	genome.wustl.edu	37	17	46622246	46622247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr17:46622246_46622247insA	ENST00000330070.4	-	1	1194_1195	c.27_28insT	c.(25-30)attgggfs	p.G10fs	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	10					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTATAAACCCAATCTCCCTCT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.28dupT	17.37:g.46622248_46622248dupA	ENSP00000331741:p.Gly10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P10913|P17485	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.G9fs	ENST00000330070.4	37	c.28_27	CCDS11527.1	17																																																																																			HOXB2	-	NULL	ENSG00000173917		0.545	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	59	0.00	0	-			46622246	46622247	-1	no_errors	ENST00000330070	ensembl	human	known	69_37n	frame_shift_ins	62	31.87	29	INS	1.000:1.000	A
KCNG2	26251	genome.wustl.edu	37	18	77624283	77624283	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr18:77624283G>A	ENST00000316249.3	+	1	616	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	206					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGCGCCGAGGAggagcgggt	0.766																																						dbGAP											0													10.0	11.0	11.0					18																	77624283		1934	3881	5815	-	-	-	SO:0001583	missense	0			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.616G>A	18.37:g.77624283G>A	ENSP00000315654:p.Glu206Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.E206K	ENST00000316249.3	37	c.616	CCDS12019.1	18	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593454	0.46214	.	.	ENSG00000178342	ENST00000316249	D	0.97328	-4.34	3.61	3.61	0.41365	.	0.073967	0.53938	N	0.000059	D	0.95915	0.8670	L	0.56769	1.78	0.58432	D	0.999991	P	0.41313	0.745	B	0.43445	0.42	D	0.95508	0.8583	10	0.39692	T	0.17	.	15.4399	0.75176	0.0:0.0:1.0:0.0	.	206	Q9UJ96	KCNG2_HUMAN	K	206	ENSP00000315654:E206K	ENSP00000315654:E206K	E	+	1	0	KCNG2	75725271	1.000000	0.71417	0.983000	0.44433	0.134000	0.20937	8.364000	0.90105	1.859000	0.53934	0.484000	0.47621	GAG	KCNG2	-	NULL	ENSG00000178342		0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	11	0.00	0	G	NM_012283		77624283	77624283	+1	no_errors	ENST00000316249	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	A
KRT14	3861	genome.wustl.edu	37	17	39740115	39740115	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr17:39740115G>A	ENST00000167586.6	-	4	910	c.824C>T	c.(823-825)gCa>gTa	p.A275V		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	275	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CACGCCAGGTGCAGCGTCCAT	0.567																																						dbGAP											0													158.0	131.0	140.0					17																	39740115		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.824C>T	17.37:g.39740115G>A	ENSP00000167586:p.Ala275Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.A275V	ENST00000167586.6	37	c.824	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805144	0.70682	.	.	ENSG00000186847	ENST00000167586	T	0.80393	-1.37	5.04	5.04	0.67666	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000055	D	0.91418	0.7292	M	0.90019	3.08	0.58432	D	0.999998	D	0.65815	0.995	D	0.67382	0.951	D	0.93138	0.6539	10	0.87932	D	0	.	18.7582	0.91839	0.0:0.0:1.0:0.0	.	275	P02533	K1C14_HUMAN	V	275	ENSP00000167586:A275V	ENSP00000167586:A275V	A	-	2	0	KRT14	36993641	0.578000	0.26717	0.182000	0.23118	0.047000	0.14425	3.459000	0.53021	2.487000	0.83934	0.655000	0.94253	GCA	KRT14	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I	ENSG00000186847		0.567	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	64	0.00	0	G	NM_000526		39740115	39740115	-1	no_errors	ENST00000167586	ensembl	human	known	69_37n	missense	64	27.27	24	SNP	0.979	A
LAMB3	3914	genome.wustl.edu	37	1	209800885	209800885	+	Missense_Mutation	SNP	G	G	A	rs202096620	byFrequency	TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:209800885G>A	ENST00000356082.4	-	12	1462	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	LAMB3_ENST00000367030.3_Missense_Mutation_p.P443L|LAMB3_ENST00000391911.1_Missense_Mutation_p.P443L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	443	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCGTCACACGGCATGTCCCT	0.617											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0015	0.0	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	58.0	60.0					1																	209800885		2203	4300	6503	-	-	-	SO:0001583	missense	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1328C>T	1.37:g.209800885G>A	ENSP00000348384:p.Pro443Leu	Somatic	2185	WXS	Illumina GAIIx	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.P443L	ENST00000356082.4	37	c.1328	CCDS1487.1	1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	16.65	3.183244	0.57800	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61158	0.13;0.13;0.13	5.13	4.22	0.49857	EGF-like, laminin (3);	0.000000	0.64402	D	0.000001	T	0.63426	0.2510	M	0.64630	1.985	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.64782	-0.6326	10	0.16896	T	0.51	.	14.472	0.67523	0.0733:0.0:0.9267:0.0	.	443	Q13751	LAMB3_HUMAN	L	443	ENSP00000375778:P443L;ENSP00000348384:P443L;ENSP00000355997:P443L	ENSP00000348384:P443L	P	-	2	0	LAMB3	207867508	1.000000	0.71417	0.910000	0.35882	0.400000	0.30750	3.820000	0.55693	1.276000	0.44395	-0.730000	0.03578	CCG	LAMB3	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000196878		0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	57	0.00	0	G	NM_000228		209800885	209800885	-1	no_errors	ENST00000356082	ensembl	human	known	69_37n	missense	60	41.75	43	SNP	0.991	A
LIN9	286826	genome.wustl.edu	37	1	226475491	226475491	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:226475491G>C	ENST00000328205.5	-	5	865	c.320C>G	c.(319-321)aCa>aGa	p.T107R	LIN9_ENST00000481685.1_Missense_Mutation_p.T72R|LIN9_ENST00000366801.1_Missense_Mutation_p.T56R	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	91	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CATTGTTGCTGTAAATTTCTA	0.294																																					Ovarian(197;1696 2974 11248 14117)	dbGAP											0													79.0	85.0	83.0					1																	226475491		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.320C>G	1.37:g.226475491G>C	ENSP00000329102:p.Thr107Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.T107R	ENST00000328205.5	37	c.320	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	8.794	0.931352	0.18131	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807;ENST00000359525	.	.	.	5.41	5.41	0.78517	.	0.104471	0.64402	D	0.000006	T	0.33585	0.0868	N	0.19112	0.55	0.37498	D	0.916662	B;B;B	0.27498	0.18;0.079;0.079	B;B;B	0.21360	0.034;0.034;0.034	T	0.30387	-0.9980	9	0.22109	T	0.4	.	10.1323	0.42687	0.0:0.1283:0.6151:0.2566	.	72;91;241	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	R	67;107;162;56;72;241;39	.	ENSP00000329102:T107R	T	-	2	0	LIN9	224542114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.916000	0.48813	2.527000	0.85204	0.561000	0.74099	ACA	LIN9	-	NULL	ENSG00000183814		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	30	0.00	0	G	NM_173083		226475491	226475491	-1	no_errors	ENST00000328205	ensembl	human	known	69_37n	missense	31	50.00	31	SNP	1.000	C
LIX1	167410	genome.wustl.edu	37	5	96460224	96460224	+	Silent	SNP	A	A	G			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr5:96460224A>G	ENST00000274382.4	-	2	487	c.192T>C	c.(190-192)ccT>ccC	p.P64P	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	64										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TCACAAAGGGAGGCCCAGGAG	0.483																																						dbGAP											0													97.0	87.0	91.0					5																	96460224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.192T>C	5.37:g.96460224A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R9|Q8N7I2	Silent	SNP	NULL	p.P64	ENST00000274382.4	37	c.192	CCDS4088.1	5																																																																																			LIX1	-	NULL	ENSG00000145721		0.483	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	36	0.00	0	A	NM_153234		96460224	96460224	-1	no_errors	ENST00000274382	ensembl	human	known	69_37n	silent	31	40.38	21	SNP	0.498	G
LOXHD1	125336	genome.wustl.edu	37	18	44146271	44146271	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr18:44146271C>T	ENST00000398722.4	-	10	1551	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	LOXHD1_ENST00000441551.2_Missense_Mutation_p.G796R|LOXHD1_ENST00000536736.1_Missense_Mutation_p.G796R			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	518	PLAT 4. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TCCAGGCGCCCGTCAGCCTGG	0.612																																						dbGAP											0													63.0	61.0	62.0					18																	44146271		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.1552G>A	18.37:g.44146271C>T	ENSP00000381707:p.Gly518Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.G796R	ENST00000398722.4	37	c.2386		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294112|2.294112	0.40594|0.40594	.|.	.|.	ENSG00000167210|ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730|ENST00000441551	T;T|T	0.26373|0.63096	1.74;1.74|-0.02	4.95|4.95	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72716|0.72716	0.3495|0.3495	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	P;P|.	0.44090|.	0.649;0.826|.	B;B|.	0.35971|.	0.101;0.215|.	T|T	0.73313|0.73313	-0.4022|-0.4022	10|6	0.34782|.	T|.	0.22|.	.|.	12.184|12.184	0.54227|0.54227	0.0:0.9011:0.0:0.0989|0.0:0.9011:0.0:0.0989	.|.	796;518|.	F5GZB4;Q8IVV2-2|.	.;.|.	R|Q	518;796;518|776	ENSP00000381707:G518R;ENSP00000444586:G796R|ENSP00000387621:R776Q	ENSP00000338222:G518R|.	G|R	-|-	1|2	0|0	LOXHD1|LOXHD1	42400269|42400269	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.879000|0.879000	0.50718|0.50718	3.539000|3.539000	0.53604|0.53604	1.053000|1.053000	0.40415|0.40415	0.491000|0.491000	0.48974|0.48974	GGG|CGG	LOXHD1	-	superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000167210		0.612	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		45	0.00	0	C	NM_144612		44146271	44146271	-1	no_errors	ENST00000536736	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	T
MUC17	140453	genome.wustl.edu	37	7	100677258	100677258	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr7:100677258G>A	ENST00000306151.4	+	3	2625	c.2561G>A	c.(2560-2562)aGc>aAc	p.S854N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	854	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)					GAAGGTACCAGCATGCCAACC	0.488																																						dbGAP											0													290.0	282.0	285.0					7																	100677258		2203	4298	6501	-	-	-	SO:0001583	missense	0			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.2561G>A	7.37:g.100677258G>A	ENSP00000302716:p.Ser854Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S854N	ENST00000306151.4	37	c.2561	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	1.601	-0.526564	0.04141	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	1.14	-2.29	0.06805	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.14023	0.01	T	0.48896	-0.8994	9	0.19147	T	0.46	.	8.1876	0.31348	0.0:0.5221:0.4778:0.0	.	854	Q685J3	MUC17_HUMAN	N	854	ENSP00000302716:S854N	ENSP00000302716:S854N	S	+	2	0	MUC17	100463978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.302000	0.08221	-0.445000	0.07159	-1.184000	0.01707	AGC	MUC17	-	NULL	ENSG00000169876		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	54	0.00	0	G	NM_001040105		100677258	100677258	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	88	30.16	38	SNP	0.000	A
NID1	4811	genome.wustl.edu	37	1	236157061	236157061	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:236157061G>T	ENST00000264187.6	-	13	2721	c.2639C>A	c.(2638-2640)gCg>gAg	p.A880E	NID1_ENST00000366595.3_Missense_Mutation_p.A747E	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	880	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTGCCCGTGCGCATCGCACTC	0.701																																						dbGAP											0													35.0	36.0	36.0					1																	236157061		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2639C>A	1.37:g.236157061G>T	ENSP00000264187:p.Ala880Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A880E	ENST00000264187.6	37	c.2639	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411861	0.01145	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.61627	0.09;0.09	5.69	3.29	0.37713	Thyroglobulin type-1 (6);	0.257894	0.45126	N	0.000399	T	0.20740	0.0499	N	0.01086	-1.025	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.33033	-0.9884	10	0.02654	T	1	.	8.1997	0.31417	0.1227:0.0:0.2636:0.6138	.	747;880	P14543-2;P14543	.;NID1_HUMAN	E	880;747	ENSP00000264187:A880E;ENSP00000355554:A747E	ENSP00000264187:A880E	A	-	2	0	NID1	234223684	0.976000	0.34144	0.082000	0.20525	0.242000	0.25591	1.742000	0.38248	0.403000	0.25479	-0.425000	0.05940	GCG	NID1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000116962		0.701	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	49	0.00	0	G	NM_002508		236157061	236157061	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	85	51.70	91	SNP	0.277	T
OR5L2	26338	genome.wustl.edu	37	11	55595104	55595104	+	Missense_Mutation	SNP	C	C	A	rs373762636		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr11:55595104C>A	ENST00000378397.1	+	1	410	c.410C>A	c.(409-411)tCt>tAt	p.S137Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTGACCATGTCTCAGAAGCTG	0.522										HNSCC(27;0.073)																												dbGAP											0													207.0	179.0	189.0					11																	55595104		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.410C>A	11.37:g.55595104C>A	ENSP00000367650:p.Ser137Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S137Y	ENST00000378397.1	37	c.410	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	15.28	2.785435	0.49997	.	.	ENSG00000205030	ENST00000378397	T	0.42513	0.97	5.18	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.134216	0.34725	N	0.003726	T	0.71567	0.3355	H	0.96889	3.9	0.33798	D	0.626263	D	0.89917	1.0	D	0.67900	0.954	T	0.83285	-0.0036	10	0.87932	D	0	-42.8981	8.7625	0.34683	0.0:0.7663:0.1526:0.0811	.	137	Q8NGL0	OR5L2_HUMAN	Y	137	ENSP00000367650:S137Y	ENSP00000367650:S137Y	S	+	2	0	OR5L2	55351680	0.000000	0.05858	0.875000	0.34327	0.310000	0.27922	-0.183000	0.09712	1.316000	0.45131	0.626000	0.83405	TCT	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000205030		0.522	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	70	0.00	0	C	NM_001004739		55595104	55595104	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	63	35.05	34	SNP	0.991	A
PIH1D1	55011	genome.wustl.edu	37	19	49952762	49952762	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr19:49952762G>C	ENST00000262265.5	-	3	542	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.L103V	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	103					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGCTCTCCCAGACTCATGGGG	0.607																																						dbGAP											0													107.0	95.0	99.0					19																	49952762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.307C>G	19.37:g.49952762G>C	ENSP00000262265:p.Leu103Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	NULL	p.L103V	ENST00000262265.5	37	c.307	CCDS12765.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220660	0.79464	.	.	ENSG00000104872	ENST00000262265	T	0.19105	2.17	5.22	5.22	0.72569	.	0.343369	0.26840	N	0.022229	T	0.32645	0.0836	N	0.21617	0.685	0.50039	D	0.999849	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.833	T	0.08806	-1.0704	10	0.66056	D	0.02	-12.1118	14.3008	0.66352	0.0:0.0:1.0:0.0	.	103;103	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	V	103	ENSP00000262265:L103V	ENSP00000262265:L103V	L	-	1	2	PIH1D1	54644574	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.262000	0.72514	2.437000	0.82529	0.655000	0.94253	CTG	PIH1D1	-	NULL	ENSG00000104872		0.607	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	57	0.00	0	G	NM_017916		49952762	49952762	-1	no_errors	ENST00000262265	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	C
PMAIP1	5366	genome.wustl.edu	37	18	57567684	57567684	+	Intron	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr18:57567684C>T	ENST00000316660.6	+	1	288				PMAIP1_ENST00000269518.9_Missense_Mutation_p.A28V	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				GCGGGTACGGCGAGGGACCAA	0.632																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.58+217C>T	18.37:g.57567684C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4T7|Q8N589	Missense_Mutation	SNP	NULL	p.A28V	ENST00000316660.6	37	c.83	CCDS11975.1	18	.	.	.	.	.	.	.	.	.	.	C	6.234	0.411360	0.11812	.	.	ENSG00000141682	ENST00000269518	.	.	.	0.13	0.13	0.14746	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.09310	N	1	D	0.56521	0.976	P	0.52309	0.695	T	0.33317	-0.9873	6	0.87932	D	0	.	.	.	.	.	28	Q8N589	.	V	28	.	ENSP00000269518:A28V	A	+	2	0	PMAIP1	55718664	0.003000	0.15002	0.003000	0.11579	0.010000	0.07245	0.179000	0.16840	0.184000	0.20083	0.187000	0.17357	GCG	PMAIP1	-	NULL	ENSG00000141682		0.632	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMAIP1	HGNC	protein_coding	OTTHUMT00000256137.1	47	0.00	0	C	NM_021127		57567684	57567684	+1	no_errors	ENST00000269518	ensembl	human	novel	69_37n	missense	31	39.62	21	SNP	0.003	T
R3HDM2	22864	genome.wustl.edu	37	12	57660607	57660607	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr12:57660607C>A	ENST00000347140.3	-	19	2386	c.1996G>T	c.(1996-1998)Gta>Tta	p.V666L	R3HDM2_ENST00000403821.2_Missense_Mutation_p.V700L|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.V680L|R3HDM2_ENST00000441731.2_Missense_Mutation_p.V361L|R3HDM2_ENST00000358907.2_Missense_Mutation_p.V666L|R3HDM2_ENST00000413953.2_Missense_Mutation_p.V393L|R3HDM2_ENST00000546843.1_5'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	666	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGAAACCCTACAGAAGGGCTG	0.567																																						dbGAP											0													65.0	49.0	55.0					12																	57660607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1996G>T	12.37:g.57660607C>A	ENSP00000317903:p.Val666Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.V666L	ENST00000347140.3	37	c.1996	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704180	0.88924	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.59083	0.32;0.29;1.23;1.26;1.23;0.31;0.92;1.26	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.62723	1.935	0.58432	D	0.999998	D;D;D;D	0.64830	0.994;0.994;0.984;0.99	D;D;D;D	0.75484	0.97;0.97;0.956;0.986	T	0.75425	-0.3322	10	0.62326	D	0.03	-9.7733	17.3118	0.87212	0.0:1.0:0.0:0.0	.	700;680;666;393	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	L	393;393;666;680;666;361;431;700;55	ENSP00000409146:V393L;ENSP00000377400:V393L;ENSP00000317903:V666L;ENSP00000385839:V680L;ENSP00000351784:V666L;ENSP00000408536:V361L;ENSP00000394676:V431L;ENSP00000385169:V700L	ENSP00000317903:V666L	V	-	1	0	R3HDM2	55946874	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.128000	0.77217	2.696000	0.92011	0.650000	0.86243	GTA	R3HDM2	-	NULL	ENSG00000179912		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	29	0.00	0	C	NM_014925		57660607	57660607	-1	no_errors	ENST00000347140	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	A
RGS7	6000	genome.wustl.edu	37	1	240975339	240975339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:240975339C>A	ENST00000407727.1	-	13	960	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	RGS7_ENST00000366564.1_Nonsense_Mutation_p.E321*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E321*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E237*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E268*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E295*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.E321*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E321*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E268*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	321					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGGCTCGGTTCTTTGCTATAG	0.403																																						dbGAP											0													86.0	88.0	87.0					1																	240975339		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.961G>T	1.37:g.240975339C>A	ENSP00000384428:p.Glu321*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E321*	ENST00000407727.1	37	c.961		1	.	.	.	.	.	.	.	.	.	.	C	33	5.218996	0.95104	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-20.3059	19.0419	0.93004	0.0:1.0:0.0:0.0	.	.	.	.	X	295;321;321;321;152;268;237;321;321;268	.	ENSP00000331485:E295X	E	-	1	0	RGS7	239041962	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	GAA	RGS7	-	NULL	ENSG00000182901		0.403	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		32	0.00	0	C	NM_002924		240975339	240975339	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	nonsense	55	21.43	15	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23915403	23915403	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr13:23915403G>A	ENST00000382292.3	-	9	2885	c.2612C>T	c.(2611-2613)cCa>cTa	p.P871L	SACS_ENST00000402364.1_Missense_Mutation_p.P121L|SACS_ENST00000382298.3_Missense_Mutation_p.P871L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	871					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTTGGTAATGGTGAATGAAT	0.348																																						dbGAP											0													94.0	98.0	96.0					13																	23915403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2612C>T	13.37:g.23915403G>A	ENSP00000371729:p.Pro871Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.P871L	ENST00000382292.3	37	c.2612	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395456	0.62066	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.28;-2.41;-2.28	6.05	6.05	0.98169	.	0.111391	0.64402	D	0.000005	D	0.88291	0.6397	M	0.64997	1.995	0.54753	D	0.999989	B	0.31026	0.304	B	0.24269	0.052	D	0.85874	0.1418	10	0.62326	D	0.03	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	871	Q9NZJ4	SACS_HUMAN	L	871;121;871	ENSP00000371729:P871L;ENSP00000385844:P121L;ENSP00000371735:P871L	ENSP00000371729:P871L	P	-	2	0	SACS	22813403	1.000000	0.71417	0.608000	0.28969	0.997000	0.91878	5.044000	0.64214	2.878000	0.98634	0.650000	0.86243	CCA	SACS	-	NULL	ENSG00000151835		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	50	0.00	0	G	NM_014363		23915403	23915403	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	56	34.12	29	SNP	1.000	A
SIM2	6493	genome.wustl.edu	37	21	38103360	38103360	+	Missense_Mutation	SNP	C	C	T	rs534777844		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr21:38103360C>T	ENST00000290399.6	+	7	1371	c.758C>T	c.(757-759)aCg>aTg	p.T253M	SIM2_ENST00000430056.3_Missense_Mutation_p.T253M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	253	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACCGAGGTGACGGGGTACGAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18736	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													160.0	97.0	118.0					21																	38103360		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.758C>T	21.37:g.38103360C>T	ENSP00000290399:p.Thr253Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.T253M	ENST00000290399.6	37	c.758	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096388	0.56075	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.74106	-0.81;-0.81	5.3	5.3	0.74995	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.85130	0.997;0.903	T	0.80665	-0.1281	10	0.36615	T	0.2	.	18.9734	0.92724	0.0:1.0:0.0:0.0	.	253;253	Q14190;Q14190-2	SIM2_HUMAN;.	M	253	ENSP00000290399:T253M;ENSP00000404176:T253M	ENSP00000290399:T253M	T	+	2	0	SIM2	37025230	1.000000	0.71417	0.972000	0.41901	0.907000	0.53573	7.219000	0.78000	2.485000	0.83878	0.563000	0.77884	ACG	SIM2	-	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	ENSG00000159263		0.552	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	61	0.00	0	C	NM_009586		38103360	38103360	+1	no_errors	ENST00000290399	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	1.000	T
SLC8A1	6546	genome.wustl.edu	37	2	40657293	40657293	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr2:40657293C>T	ENST00000403092.1	-	2	161	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SLC8A1_ENST00000332839.4_Missense_Mutation_p.G43E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G43E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G43E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	43					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTTCATTTCCTTCTCCTTC	0.413																																						dbGAP											0													134.0	131.0	132.0					2																	40657293		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.128G>A	2.37:g.40657293C>T	ENSP00000384763:p.Gly43Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.G43E	ENST00000403092.1	37	c.128	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621795	0.46840	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.7;1.7;1.7;1.64;1.64;1.7;1.67;1.64;1.65	6.04	3.25	0.37280	.	0.506049	0.22567	N	0.058392	T	0.24586	0.0596	L	0.45137	1.4	0.32996	D	0.525564	P;B;B;B;P	0.41748	0.59;0.0;0.361;0.03;0.761	B;B;B;B;B	0.41036	0.232;0.0;0.232;0.055;0.346	T	0.31392	-0.9945	10	0.48119	T	0.1	.	5.447	0.16541	0.0:0.6281:0.1454:0.2265	.	43;43;43;43;43	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	E	43	ENSP00000383886:G43E;ENSP00000440727:G43E;ENSP00000384763:G43E;ENSP00000385678:G43E;ENSP00000385188:G43E;ENSP00000385535:G43E;ENSP00000332931:G43E;ENSP00000384908:G43E;ENSP00000385811:G43E;ENSP00000443515:G43E	ENSP00000332931:G43E	G	-	2	0	SLC8A1	40510797	0.150000	0.22732	0.991000	0.47740	0.983000	0.72400	0.208000	0.17415	0.428000	0.26173	0.563000	0.77884	GGA	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	18	0.00	0	C	NM_021097		40657293	40657293	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	0.992	T
SLITRK4	139065	genome.wustl.edu	37	X	142717848	142717848	+	Silent	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chrX:142717848C>T	ENST00000381779.4	-	2	1302	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	SLITRK4_ENST00000356928.1_Silent_p.V359V|SLITRK4_ENST00000338017.4_Silent_p.V359V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	359	LRRNT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCAGTTCACACTTAGTC	0.453																																						dbGAP											0													141.0	121.0	127.0					X																	142717848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1077G>A	X.37:g.142717848C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V359	ENST00000381779.4	37	c.1077	CCDS14679.1	X																																																																																			SLITRK4	-	NULL	ENSG00000179542		0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	51	0.00	0	C	NM_173078		142717848	142717848	-1	no_errors	ENST00000338017	ensembl	human	known	69_37n	silent	66	12.99	10	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186544315	186544315	+	Silent	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr4:186544315C>T	ENST00000284776.7	-	13	2765	c.2256G>A	c.(2254-2256)ccG>ccA	p.P752P	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.P852P|SORBS2_ENST00000431808.1_Silent_p.P752P|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.P656P|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGCTGTTGTCCGGCAAGCTCC	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													140.0	160.0	153.0					4																	186544315		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2256G>A	4.37:g.186544315C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.P752	ENST00000284776.7	37	c.2256	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	16	0.00	0	C	NM_003603		186544315	186544315	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	silent	16	50.00	16	SNP	0.066	T
SPTA1	6708	genome.wustl.edu	37	1	158585119	158585119	+	Silent	SNP	G	G	A	rs186647435		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr1:158585119G>A	ENST00000368147.4	-	48	6855	c.6675C>T	c.(6673-6675)gaC>gaT	p.D2225D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2225					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D2225D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGATCAGAGCGTCTTCCAAGT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											188.0	189.0	189.0					1																	158585119		2008	4194	6202	-	-	-	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6675C>T	1.37:g.158585119G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D2225	ENST00000368147.4	37	c.6675	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	72	0.00	0	G	NM_003126		158585119	158585119	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	silent	164	15.03	29	SNP	0.988	A
TBC1D9B	23061	genome.wustl.edu	37	5	179302039	179302039	+	Silent	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr5:179302039G>A	ENST00000356834.3	-	12	2086	c.2049C>T	c.(2047-2049)agC>agT	p.S683S	TBC1D9B_ENST00000355235.3_Silent_p.S683S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	683	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCACGGCGCTCTCGAAGG	0.612																																						dbGAP											0													98.0	89.0	92.0					5																	179302039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2049C>T	5.37:g.179302039G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S683	ENST00000356834.3	37	c.2049	CCDS43408.1	5																																																																																			TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000197226		0.612	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	20	0.00	0	G	NM_015043		179302039	179302039	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	0.989	A
TEX15	56154	genome.wustl.edu	37	8	30703515	30703516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr8:30703515_30703516insT	ENST00000256246.2	-	1	3092_3093	c.3018_3019insA	c.(3016-3021)aaagctfs	p.A1007fs	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1007					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCTATGAGCTTTTTTTAAGT	0.322																																						dbGAP											0										0,4262		0,0,2131						5.6	1.0			119	1,8247		0,1,4123	no	frameshift	TEX15	NM_031271.3		0,1,6254	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12509				-	-	-	SO:0001589	frameshift_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3019dupA	8.37:g.30703522_30703522dupT	ENSP00000256246:p.Ala1007fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.A1006fs	ENST00000256246.2	37	c.3019_3018	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.322	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	62	0.00	0	-			30703515	30703516	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	frame_shift_ins	38	36.67	22	INS	1.000:1.000	T
TRIM13	10206	genome.wustl.edu	37	13	50586375	50586375	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr13:50586375A>G	ENST00000378182.3	+	2	1037	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.Q103R|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q100R|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q103R|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q100R	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	100					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CACTTGGGGCAGCCTCTCAAC	0.443																																						dbGAP											0													128.0	117.0	121.0					13																	50586375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.299A>G	13.37:g.50586375A>G	ENSP00000367424:p.Gln100Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q103R	ENST00000378182.3	37	c.308	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838232	0.71373	.	.	ENSG00000204977	ENST00000442421;ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.055511	0.64402	D	0.000001	T	0.63177	0.2489	M	0.72894	2.215	0.52501	D	0.999958	D;D	0.64830	0.994;0.993	D;D	0.66716	0.946;0.91	T	0.67496	-0.5656	10	0.87932	D	0	-4.5557	15.5315	0.75968	1.0:0.0:0.0:0.0	.	100;103	O60858;O60858-3	TRI13_HUMAN;.	R	100;100;100;100;103;100;103	ENSP00000404586:Q100R;ENSP00000367425:Q100R;ENSP00000412943:Q100R;ENSP00000367424:Q100R;ENSP00000348299:Q103R;ENSP00000399206:Q100R;ENSP00000298772:Q103R	ENSP00000298772:Q103R	Q	+	2	0	TRIM13	49484376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.299000	0.96137	2.069000	0.61940	0.533000	0.62120	CAG	TRIM13	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000204977		0.443	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	34	0.00	0	A	NM_001007278		50586375	50586375	+1	no_errors	ENST00000298772	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	G
TTC3	7267	genome.wustl.edu	37	21	38569977	38569977	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr21:38569977G>A	ENST00000399017.2	+	43	8433	c.5686G>A	c.(5686-5688)Gat>Aat	p.D1896N	TTC3_ENST00000355666.1_Missense_Mutation_p.D1896N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.D1896N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1896					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACACATTCTAGATGAACAGAA	0.284																																					Ovarian(38;194 1649 35661)	dbGAP											0													42.0	40.0	41.0					21																	38569977		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5686G>A	21.37:g.38569977G>A	ENSP00000381981:p.Asp1896Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.D1896N	ENST00000399017.2	37	c.5686	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.977185|3.977185	0.74360|0.74360	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	T;T;T|.	0.10763|.	2.84;2.84;2.84|.	5.27|5.27	4.38|4.38	0.52667|0.52667	.|.	0.281003|.	0.31392|.	N|.	0.007729|.	T|T	0.66626|0.66626	0.2808|0.2808	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.43094|.	0.799|.	B|.	0.42692|.	0.395|.	T|T	0.66308|0.66308	-0.5956|-0.5956	10|5	0.87932|.	D|.	0|.	-7.1457|-7.1457	9.6161|9.6161	0.39692|0.39692	0.0962:0.0:0.9038:0.0|0.0962:0.0:0.9038:0.0	.|.	1896|.	P53804|.	TTC3_HUMAN|.	N|K	1896|187	ENSP00000347889:D1896N;ENSP00000381981:D1896N;ENSP00000346791:D1896N|.	ENSP00000346791:D1896N|.	D|R	+|+	1|2	0|0	TTC3|TTC3	37491847|37491847	0.586000|0.586000	0.26782|0.26782	0.631000|0.631000	0.29282|0.29282	0.913000|0.913000	0.54294|0.54294	2.657000|2.657000	0.46724|0.46724	1.226000|1.226000	0.43582|0.43582	0.650000|0.650000	0.86243|0.86243	GAT|AGA	TTC3	-	NULL	ENSG00000182670		0.284	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	17	0.00	0	G			38569977	38569977	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.742	A
TUBB4A	10382	genome.wustl.edu	37	19	6501314	6501314	+	Silent	SNP	C	C	T			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr19:6501314C>T	ENST00000264071.2	-	3	632	c.261G>A	c.(259-261)ccG>ccA	p.P87P	TUBB4A_ENST00000598006.1_Missense_Mutation_p.R73Q|TUBB4A_ENST00000601152.1_Missense_Mutation_p.R62Q|TUBB4A_ENST00000540257.1_Silent_p.P87P|TUBB4A_ENST00000596926.1_Silent_p.P87P			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	87					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CGAAGTTGTCCGGCCGAAAGA	0.597																																						dbGAP											0													45.0	41.0	43.0					19																	6501314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.261G>A	19.37:g.6501314C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQP4|Q969E5	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.P87	ENST00000264071.2	37	c.261	CCDS12168.1	19																																																																																			TUBB4A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Alpha_tubulin	ENSG00000104833		0.597	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	39	0.00	0	C	NM_006087		6501314	6501314	-1	no_errors	ENST00000264071	ensembl	human	known	69_37n	silent	42	36.36	24	SNP	0.006	T
TYRP1	7306	genome.wustl.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													dbGAP											2	Deletion - Frameshift(2)	NS(1)|lung(1)	GRCh37	CD085016	TYRP1	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.N353fs	ENST00000388918.5	37	c.1054_1057	CCDS34990.1	9																																																																																			TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	46	0.00	0	ACAA	NM_000550		12702411	12702414	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	frame_shift_del	48	18.64	11	DEL	1.000:1.000:0.997:0.999	-
WDFY3	23001	genome.wustl.edu	37	4	85645723	85645723	+	Missense_Mutation	SNP	C	C	T	rs201478367		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr4:85645723C>T	ENST00000295888.4	-	46	7704	c.7297G>A	c.(7297-7299)Gta>Ata	p.V2433I	WDFY3_ENST00000322366.6_Missense_Mutation_p.V2416I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2433	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCATAACTTACGGCTCTTCTA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		15867	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													114.0	112.0	113.0					4																	85645723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7297G>A	4.37:g.85645723C>T	ENSP00000295888:p.Val2433Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V2433I	ENST00000295888.4	37	c.7297	CCDS3609.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.442	-0.897870	0.02472	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.62788	0.01;0.03;-0.0	5.96	-6.69	0.01772	.	0.389337	0.29722	N	0.011378	T	0.31544	0.0800	N	0.02916	-0.46	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.03969	-1.0988	10	0.16896	T	0.51	.	18.4304	0.90623	0.0:0.2804:0.0:0.7196	.	2433	Q8IZQ1	WDFY3_HUMAN	I	2416;2433;36	ENSP00000318466:V2416I;ENSP00000295888:V2433I;ENSP00000424987:V36I	ENSP00000295888:V2433I	V	-	1	0	WDFY3	85864747	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.524000	0.06222	-1.835000	0.01191	-0.136000	0.14681	GTA	WDFY3	-	NULL	ENSG00000163625		0.423	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	29	0.00	0	C	NM_014991		85645723	85645723	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.000	T
WDR66	144406	genome.wustl.edu	37	12	122359392	122359392	+	Missense_Mutation	SNP	G	G	A	rs114531812		TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr12:122359392G>A	ENST00000288912.4	+	2	1035	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	WDR66_ENST00000397454.2_Missense_Mutation_p.E61K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	61	Glu-rich.		E -> G (in dbSNP:rs12824001).				calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		gggcgaggaggaaggggagga	0.468																																					Esophageal Squamous(85;849 1794 49757 52143)	dbGAP											0													51.0	54.0	53.0					12																	122359392		1941	4124	6065	-	-	-	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.181G>A	12.37:g.122359392G>A	ENSP00000288912:p.Glu61Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E61K	ENST00000288912.4	37	c.181	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839198	0.32513	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.12984	2.69;2.63	2.92	-1.07	0.09968	.	.	.	.	.	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	9	0.42905	T	0.14	.	3.4144	0.07371	0.3738:0.2278:0.3984:0.0	.	61	Q8TBY9	WDR66_HUMAN	K	61	ENSP00000288912:E61K;ENSP00000380595:E61K	ENSP00000288912:E61K	E	+	1	0	WDR66	120843775	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.063000	0.11655	-0.231000	0.09825	0.313000	0.20887	GAA	WDR66	-	NULL	ENSG00000158023		0.468	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	17	0.00	0	G	NM_144668		122359392	122359392	+1	no_errors	ENST00000288912	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.000	A
ZC2HC1A	51101	genome.wustl.edu	37	8	79609657	79609657	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A40C-01A-11D-A23C-09	TCGA-B6-A40C-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	837881ec-621e-4a49-972f-4a161a24ba24	9da5cb06-5902-4204-b1c3-2c1ba5e85564	g.chr8:79609657C>A	ENST00000263849.4	+	6	622	c.520C>A	c.(520-522)Ctt>Att	p.L174I	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	174							metal ion binding (GO:0046872)										GCCACCCGCACTTAAAAAGTC	0.363																																						dbGAP											0													61.0	62.0	62.0					8																	79609657		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.520C>A	8.37:g.79609657C>A	ENSP00000263849:p.Leu174Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y372	Missense_Mutation	SNP	NULL	p.L174I	ENST00000263849.4	37	c.520	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.550|9.550	1.115630|1.115630	0.20795|0.20795	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.48836|.	0.8|.	5.48|5.48	2.53|2.53	0.30540|0.30540	.|.	0.685094|.	0.14498|.	N|.	0.315957|.	T|T	0.62270|0.62270	0.2414|0.2414	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	B|.	0.12013|.	0.005|.	B|.	0.14023|.	0.01|.	T|T	0.58896|0.58896	-0.7555|-0.7555	9|5	.|.	.|.	.|.	-10.0218|-10.0218	6.8165|6.8165	0.23833|0.23833	0.109:0.5303:0.288:0.0727|0.109:0.5303:0.288:0.0727	.|.	174|.	Q96GY0|.	F164A_HUMAN|.	I|N	174|6	ENSP00000263849:L174I|.	.|.	L|T	+|+	1|2	0|0	FAM164A|FAM164A	79772212|79772212	0.904000|0.904000	0.30761|0.30761	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	0.412000|0.412000	0.21131|0.21131	0.722000|0.722000	0.32252|0.32252	0.655000|0.655000	0.94253|0.94253	CTT|ACT	ZC2HC1A	-	NULL	ENSG00000104427		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	27	0.00	0	C	NM_016010		79609657	79609657	+1	no_errors	ENST00000263849	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	0.994	A
