#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
ABCA9	10350	genome.wustl.edu	37	17	66982354	66982354	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:66982354C>T	ENST00000340001.4	-	32	4370	c.4159G>A	c.(4159-4161)Gct>Act	p.A1387T	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1349T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1387T|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1387	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1387T(2)|p.A1387N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCACGGCAGCGTACACCTCC	0.612																																						dbGAP											3	Substitution - Missense(3)	lung(2)|breast(1)											152.0	121.0	131.0					17																	66982354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4159G>A	17.37:g.66982354C>T	ENSP00000342216:p.Ala1387Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1387T	ENST00000340001.4	37	c.4159	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838492	0.51057	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	T;T	0.14766	2.48;2.48	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.48286	D	0.000199	T	0.36690	0.0976	M	0.81341	2.54	0.25876	N	0.983642	D;D	0.89917	1.0;0.994	D;D	0.68353	0.957;0.957	T	0.19877	-1.0292	10	0.87932	D	0	.	12.3196	0.54977	0.0:0.9183:0.0:0.0817	.	1387;1387	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	1387;1332;1387	ENSP00000342216:A1387T;ENSP00000359767:A1387T	ENSP00000342216:A1387T	A	-	1	0	ABCA9	64493949	0.018000	0.18449	0.007000	0.13788	0.069000	0.16628	1.233000	0.32648	1.194000	0.43101	0.655000	0.94253	GCT	ABCA9	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154258		0.612	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	253	0.00	0	C	NM_172386		66982354	66982354	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	266	21.18	72	SNP	0.503	T
ACTN3	89	genome.wustl.edu	37	11	66318787	66318787	+	RNA	SNP	T	T	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:66318787T>C	ENST00000502692.1	+	0	470				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.N74N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ATTTCCGCAATGGCCTCAAAC	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											63.0	65.0	64.0					11																	66318787		2198	4295	6493	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66318787T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP77|Q4KKV2	Silent	SNP	NULL	p.N118	ENST00000502692.1	37	c.354		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.577	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	33	0.00	0	T	NM_001104		66318787	66318787	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	silent	42	10.64	5	SNP	0.971	C
AHNAK2	113146	genome.wustl.edu	37	14	105415953	105415953	+	Silent	SNP	G	G	A	rs563961975	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr14:105415953G>A	ENST00000333244.5	-	7	5954	c.5835C>T	c.(5833-5835)ccC>ccT	p.P1945P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1945						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1945P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCGACATCGGGGGCTGTCA	0.622													.|||	2	0.000399361	0.0008	0.0	5008	,	,		16687	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	breast(1)											127.0	139.0	135.0					14																	105415953		1942	4098	6040	-	-	-	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5835C>T	14.37:g.105415953G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P1945	ENST00000333244.5	37	c.5835	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	53	0.00	0	G	NM_138420		105415953	105415953	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	0.000	A
BTK	695	genome.wustl.edu	37	X	100613405	100613405	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chrX:100613405C>T	ENST00000308731.7	-	12	1158	c.995G>A	c.(994-996)cGt>cAt	p.R332H	BTK_ENST00000372880.1_Missense_Mutation_p.R332H	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	332	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.R332H(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AACATAATGACGTATCACCCC	0.478									Agammaglobulinemia, X-linked																													dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											164.0	137.0	147.0					X																	100613405		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.995G>A	X.37:g.100613405C>T	ENSP00000308176:p.Arg332His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.R332H	ENST00000308731.7	37	c.995	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357494	0.82243	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D;D	0.88818	-2.43;-2.43	6.06	6.06	0.98353	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	P;D;D;D	0.77557	0.814;0.99;0.982;0.98	D	0.94009	0.7282	10	0.87932	D	0	.	19.1109	0.93315	0.0:1.0:0.0:0.0	.	3;332;332;332	Q3MS94;Q5JY90;B2RAW1;Q06187	.;.;.;BTK_HUMAN	H	332;3;3;1;3;3;3;332;2	ENSP00000361971:R332H;ENSP00000308176:R332H	ENSP00000308176:R332H	R	-	2	0	BTK	100500061	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.571000	0.60879	2.562000	0.86427	0.600000	0.82982	CGT	BTK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000010671		0.478	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	192	0.00	0	C	NM_000061		100613405	100613405	-1	no_errors	ENST00000308731	ensembl	human	known	69_37n	missense	254	10.88	31	SNP	1.000	T
CCDC27	148870	genome.wustl.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1909-1911)cccfs	p.P637fs	SMIM1_ENST00000561886.1_5'Flank|SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	637										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1915dupC	1.37:g.3688031_3688031dupC	ENSP00000294600:p.Pro637fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBV3|Q96M50	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.L638fs	ENST00000294600.2	37	c.1908_1909	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.550	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	38	0.00	0	-	NM_152492		3688024	3688025	+1	no_errors	ENST00000294600	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	0.063:0.211	C
CHD2	1106	genome.wustl.edu	37	15	93545466	93545466	+	Silent	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr15:93545466G>A	ENST00000394196.4	+	33	5265	c.4197G>A	c.(4195-4197)gaG>gaA	p.E1399E	CHD2_ENST00000557381.1_Silent_p.E1399E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1399					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.E1399E(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			agaacaaggagaacaaggaga	0.353																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											120.0	121.0	121.0					15																	93545466		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4197G>A	15.37:g.93545466G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1399	ENST00000394196.4	37	c.4197	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.353	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	429	0.23	1	G	NM_001271		93545466	93545466	+1	no_errors	ENST00000557381	ensembl	human	putative	69_37n	silent	350	29.23	145	SNP	1.000	A
CNTNAP1	8506	genome.wustl.edu	37	17	40847561	40847561	+	Silent	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:40847561G>A	ENST00000264638.4	+	19	3232	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1005					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P1005P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											65.0	67.0	67.0					17																	40847561		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3015G>A	17.37:g.40847561G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P1005	ENST00000264638.4	37	c.3015	CCDS11436.1	17																																																																																			CNTNAP1	-	superfamily_ConA-like_lec_gl	ENSG00000108797		0.567	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	84	0.00	0	G	NM_003632		40847561	40847561	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	silent	85	13.27	13	SNP	0.019	A
DAB2IP	153090	genome.wustl.edu	37	9	124521225	124521225	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr9:124521225G>A	ENST00000408936.3	+	5	747	c.565G>A	c.(565-567)Gag>Aag	p.E189K	DAB2IP_ENST00000309989.1_Missense_Mutation_p.E65K|DAB2IP_ENST00000259371.2_Missense_Mutation_p.E161K			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	189	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.E65K(1)|p.E161K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCTGCAGCTGAGCGGGATAA	0.587																																						dbGAP											2	Substitution - Missense(2)	breast(2)											90.0	80.0	84.0					9																	124521225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.565G>A	9.37:g.124521225G>A	ENSP00000386183:p.Glu189Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E189K	ENST00000408936.3	37	c.565		9	.	.	.	.	.	.	.	.	.	.	G	35	5.548534	0.96488	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	D	0.98027	1.0374	10	0.87932	D	0	.	17.4451	0.87575	0.0:0.0:1.0:0.0	.	161	G3XA90	.	K	161;65;161;189;98;65	ENSP00000377872:E161K;ENSP00000409327:E65K;ENSP00000259371:E161K;ENSP00000386183:E189K;ENSP00000362887:E98K;ENSP00000310827:E65K	ENSP00000259371:E161K	E	+	1	0	DAB2IP	123561046	1.000000	0.71417	0.991000	0.47740	0.865000	0.49528	9.863000	0.99569	2.414000	0.81942	0.462000	0.41574	GAG	DAB2IP	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000136848		0.587	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	11	0.00	0	G	NM_032552		124521225	124521225	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
DENND1B	163486	genome.wustl.edu	37	1	197611863	197611863	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr1:197611863A>C	ENST00000367396.3	-	10	819	c.650T>G	c.(649-651)aTt>aGt	p.I217S	DENND1B_ENST00000400967.2_Missense_Mutation_p.I187S|DENND1B_ENST00000235453.4_Missense_Mutation_p.I187S	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	217	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I187S(1)|p.I217S(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GCTCGAGATAATCACGATGCG	0.383																																						dbGAP											2	Substitution - Missense(2)	breast(2)											87.0	79.0	81.0					1																	197611863		1952	4204	6156	-	-	-	SO:0001583	missense	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.650T>G	1.37:g.197611863A>C	ENSP00000356366:p.Ile217Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.I217S	ENST00000367396.3	37	c.650	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871414	0.51695	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.13901	2.55;2.55;2.55	4.46	4.46	0.54185	DENN (3);	0.121651	0.56097	D	0.000040	T	0.41627	0.1167	M	0.91090	3.175	0.48901	D	0.999724	P;D;P;D	0.59767	0.946;0.986;0.853;0.973	P;P;P;P	0.60068	0.802;0.862;0.868;0.866	T	0.55854	-0.8075	10	0.87932	D	0	-15.3042	14.031	0.64615	1.0:0.0:0.0:0.0	.	217;197;217;187	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	S	217;197;187;217;187	ENSP00000235453:I187S;ENSP00000356366:I217S;ENSP00000383751:I187S	ENSP00000235453:I187S	I	-	2	0	DENND1B	195878486	1.000000	0.71417	0.687000	0.30102	0.212000	0.24457	8.910000	0.92685	1.776000	0.52262	0.528000	0.53228	ATT	DENND1B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000213047		0.383	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	66	0.00	0	A	NM_144977		197611863	197611863	-1	no_errors	ENST00000367396	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	C
DNAH11	8701	genome.wustl.edu	37	7	21744132	21744132	+	Silent	SNP	T	T	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr7:21744132T>C	ENST00000409508.3	+	38	6385	c.6354T>C	c.(6352-6354)ggT>ggC	p.G2118G	DNAH11_ENST00000328843.6_Silent_p.G2125G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2125					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2125G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCTGGTCGGTGACCTGTTTC	0.502									Kartagener syndrome																													dbGAP											1	Substitution - coding silent(1)	breast(1)											66.0	68.0	68.0					7																	21744132		1981	4171	6152	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6354T>C	7.37:g.21744132T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2125	ENST00000409508.3	37	c.6375		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.502	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	101	0.00	0	T	NM_003777		21744132	21744132	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	73	35.09	40	SNP	0.995	C
DOCK8	81704	genome.wustl.edu	37	9	429793	429793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr9:429793delC	ENST00000453981.1	+	36	4677	c.4565delC	c.(4564-4566)accfs	p.T1522fs	DOCK8_ENST00000469391.1_Frame_Shift_Del_p.T1422fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.T1454fs|DOCK8_ENST00000382329.1_Frame_Shift_Del_p.T989fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1522					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGATGTCACCCGGAGCCAA	0.517																																						dbGAP											0													112.0	92.0	99.0					9																	429793		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4565delC	9.37:g.429793delC	ENSP00000408464:p.Thr1522fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.R1523fs	ENST00000453981.1	37	c.4565	CCDS6440.2	9																																																																																			DOCK8	-	superfamily_ARM-type_fold	ENSG00000107099		0.517	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	50	0.00	0	C	XM_036307		429793	429793	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
ETV4	2118	genome.wustl.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	dbGAP		Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	0																																										-	-	-	SO:0001589	frameshift_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R133fs	ENST00000319349.5	37	c.400_399	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	26	0.00	0	-	NM_001986		41610700	41610701	-1	no_errors	ENST00000319349	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	1.000:1.000	G
F13A1	2162	genome.wustl.edu	37	6	6206822	6206822	+	Intron	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:6206822G>A	ENST00000264870.3	-	9	1378					NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAGCAGCAGGAATGGATGGG	0.478																																						dbGAP											0													15.0	14.0	15.0					6																	6206822		876	1989	2865	-	-	-	SO:0001627	intron_variant	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1113-9263C>T	6.37:g.6206822G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.F92	ENST00000264870.3	37	c.276	CCDS4496.1	6																																																																																			F13A1	-	smart_Transglutaminase-like	ENSG00000124491		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	20	0.00	0	G	NM_000129		6206822	6206822	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445223	ensembl	human	putative	69_37n	silent	13	31.58	6	SNP	0.008	A
FRMPD1	22844	genome.wustl.edu	37	9	37746347	37746348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr9:37746347_37746348insG	ENST00000539465.1	+	16	4911_4912	c.4318_4319insG	c.(4318-4320)tggfs	p.W1440fs	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Frame_Shift_Ins_p.W1440fs			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1440						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAAACTTCCTGGGGGGTTGGA	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4324dupG	9.37:g.37746353_37746353dupG	ENSP00000444411:p.Trp1440fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Ins	INS	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.V1442fs	ENST00000539465.1	37	c.4318_4319	CCDS6612.1	9																																																																																			FRMPD1	-	NULL	ENSG00000070601		0.569	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	22	0.00	0	-	NM_014907		37746347	37746348	+1	no_errors	ENST00000377765	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.994:1.000	G
GJA10	84694	genome.wustl.edu	37	6	90604250	90604250	+	Silent	SNP	G	G	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:90604250G>T	ENST00000369352.1	+	1	63	c.63G>T	c.(61-63)gtG>gtT	p.V21V		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	21					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.V21V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAACCATAGTGGGGAAAATCT	0.473																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											155.0	149.0	151.0					6																	90604250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.63G>T	6.37:g.90604250G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.V21	ENST00000369352.1	37	c.63	CCDS5025.1	6																																																																																			GJA10	-	pfam_Connexin_N,prints_Connexin	ENSG00000135355		0.473	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	347	0.00	0	G	NM_032602		90604250	90604250	+1	no_errors	ENST00000369352	ensembl	human	known	69_37n	silent	274	19.41	66	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90050985	90050985	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr5:90050985G>A	ENST00000405460.2	+	55	11659	c.11563G>A	c.(11563-11565)Gaa>Aaa	p.E3855K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3855	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E3855K(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCATGCCGAAGTTTCCAT	0.313																																						dbGAP											2	Substitution - Missense(2)	breast(1)|skin(1)											44.0	44.0	44.0					5																	90050985		1840	4091	5931	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11563G>A	5.37:g.90050985G>A	ENSP00000384582:p.Glu3855Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E3855K	ENST00000405460.2	37	c.11563	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	0.723	-0.782656	0.02907	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.35605	1.3	5.73	3.3	0.37823	.	0.437991	0.28247	N	0.016044	T	0.09379	0.0231	N	0.01109	-1.01	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36237	-0.9756	10	0.05959	T	0.93	.	5.5501	0.17086	0.7043:0.1449:0.1508:0.0	.	3855;3855	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	3855	ENSP00000384582:E3855K	ENSP00000296619:E3855K	E	+	1	0	GPR98	90086741	0.000000	0.05858	0.085000	0.20634	0.606000	0.37113	0.352000	0.20113	0.106000	0.17784	-0.254000	0.11334	GAA	GPR98	-	NULL	ENSG00000164199		0.313	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	184	0.00	0	G	NM_032119		90050985	90050985	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	117	17.02	24	SNP	0.009	A
HERC2	8924	genome.wustl.edu	37	15	28421694	28421694	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr15:28421694C>T	ENST00000261609.7	-	63	9674	c.9566G>A	c.(9565-9567)gGa>gAa	p.G3189E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G3189E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTTCACTTCCGCCCCGGCC	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	87.0	85.0					15																	28421694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9566G>A	15.37:g.28421694C>T	ENSP00000261609:p.Gly3189Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.G3189E	ENST00000261609.7	37	c.9566	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507809	0.85282	.	.	ENSG00000128731	ENST00000261609	D	0.84370	-1.84	5.65	4.71	0.59529	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.055300	0.64402	D	0.000001	D	0.88562	0.6470	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89583	0.3822	10	0.59425	D	0.04	.	16.4965	0.84246	0.0:0.8689:0.1311:0.0	.	3189	O95714	HERC2_HUMAN	E	3189	ENSP00000261609:G3189E	ENSP00000261609:G3189E	G	-	2	0	HERC2	26095289	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.487000	0.81328	1.344000	0.45657	0.585000	0.79938	GGA	HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	278	0.00	0	C	NM_004667		28421694	28421694	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	269	13.69	43	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28518115	28518115	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr15:28518115C>A	ENST00000261609.7	-	8	944	c.836G>T	c.(835-837)gGa>gTa	p.G279V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						dbGAP											2	Substitution - Missense(1)|Deletion - Frameshift(1)	autonomic_ganglia(1)|breast(1)											50.0	48.0	49.0					15																	28518115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836G>T	15.37:g.28518115C>A	ENSP00000261609:p.Gly279Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.G279V	ENST00000261609.7	37	c.836	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547760	0.65311	.	.	ENSG00000128731	ENST00000261609	T	0.38401	1.14	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45556	-0.9253	10	0.44086	T	0.13	.	18.8066	0.92040	0.0:1.0:0.0:0.0	.	279	O95714	HERC2_HUMAN	V	279	ENSP00000261609:G279V	ENSP00000261609:G279V	G	-	2	0	HERC2	26191710	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	4.711000	0.61881	2.670000	0.90874	0.644000	0.83932	GGA	HERC2	-	NULL	ENSG00000128731		0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	32	0.00	0	C	NM_004667		28518115	28518115	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	19	61.22	30	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18339303	18339303	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:18339303G>C	ENST00000349215.3	-	2	380	c.103C>G	c.(103-105)Cta>Gta	p.L35V	HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000396253.3_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	35					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.L35V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTCACCTTTAGACGACTGGAG	0.473									Hermansky-Pudlak syndrome																													dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	53.0	55.0					11																	18339303		2199	4293	6492	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.103C>G	11.37:g.18339303G>C	ENSP00000265967:p.Leu35Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.L35V	ENST00000349215.3	37	c.103	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213138	0.58452	.	.	ENSG00000110756	ENST00000349215	T	0.62941	-0.01	5.05	4.14	0.48551	WD40 repeat-like-containing domain (1);	0.075577	0.53938	D	0.000051	T	0.61837	0.2379	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.976;0.996	P;P	0.61800	0.741;0.894	T	0.59579	-0.7428	10	0.36615	T	0.2	.	9.9396	0.41572	0.1566:0.0:0.8434:0.0	.	51;35	Q8IZE8;Q9UPZ3	.;HPS5_HUMAN	V	35	ENSP00000265967:L35V	ENSP00000265967:L35V	L	-	1	2	HPS5	18295879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.647000	0.46639	1.112000	0.41740	0.591000	0.81541	CTA	HPS5	-	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.473	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	24	0.00	0	G	NM_181507		18339303	18339303	-1	no_errors	ENST00000349215	ensembl	human	known	69_37n	missense	45	43.75	35	SNP	1.000	C
HTR1F	3355	genome.wustl.edu	37	3	88039975	88039975	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr3:88039975G>C	ENST00000319595.4	+	1	130	c.76G>C	c.(76-78)Gtg>Ctg	p.V26L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	26					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V26L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CAAAATTCTGGTGTCCCTCAC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	132.0	132.0					3																	88039975		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.76G>C	3.37:g.88039975G>C	ENSP00000322924:p.Val26Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.V26L	ENST00000319595.4	37	c.76	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	G	0.497	-0.872465	0.02570	.	.	ENSG00000179097	ENST00000319595	T	0.29655	1.56	5.74	3.92	0.45320	.	0.139048	0.45361	D	0.000378	T	0.11537	0.0281	N	0.08118	0	0.30362	N	0.783706	B	0.02656	0.0	B	0.06405	0.002	T	0.27571	-1.0070	10	0.02654	T	1	.	7.5166	0.27604	0.2227:0.0:0.7773:0.0	.	26	P30939	5HT1F_HUMAN	L	26	ENSP00000322924:V26L	ENSP00000322924:V26L	V	+	1	0	HTR1F	88122665	0.981000	0.34729	0.999000	0.59377	0.867000	0.49689	2.069000	0.41481	2.714000	0.92807	0.585000	0.79938	GTG	HTR1F	-	prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000179097		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	287	0.00	0	G	NM_000866		88039975	88039975	+1	no_errors	ENST00000319595	ensembl	human	known	69_37n	missense	119	28.31	47	SNP	0.970	C
IGHV2-26	28455	genome.wustl.edu	37	14	106757840	106757840	+	RNA	SNP	C	C	T	rs546779026	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr14:106757840C>T	ENST00000390611.2	-	0	190									immunoglobulin heavy variable 2-26																		ACGGATCCAGCTCACACCCAT	0.547																																						dbGAP											0													61.0	58.0	59.0					14																	106757840		1982	4156	6138	-	-	-			0			M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757840C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S56N	ENST00000390611.2	37	c.167		14																																																																																			IGHV2-26	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211951		0.547	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV2-26	HGNC	IG_V_gene	OTTHUMT00000325197.1	92	0.00	0	C	NG_001019		106757840	106757840	-1	no_stop_codon	ENST00000390611	ensembl	human	known	69_37n	missense	106	16.54	21	SNP	0.001	T
KCNJ12	3768	genome.wustl.edu	37	17	21318698	21318698	+	Missense_Mutation	SNP	C	C	T	rs1657738	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:21318698C>T	ENST00000583088.1	+	3	939	c.44C>T	c.(43-45)tCg>tTg	p.S15L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S15L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	15			S -> L (in dbSNP:rs1657738).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATCGTGTCATCGGAGGAGGAC	0.711										Prostate(3;0.18)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.44C>T	17.37:g.21318698C>T	ENSP00000463778:p.Ser15Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.S15L	ENST00000583088.1	37	c.44	CCDS11219.1	17	1092	0.5	246	0.5	181	0.5	286	0.5	379	0.5	C	16.91	3.253602	0.59212	.	.	ENSG00000184185	ENST00000331718	T	0.35605	1.3	5.33	4.37	0.52481	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.060531	0.64402	D	0.000002	T	0.00012	0.0000	L	0.55481	1.735	0.53005	D	0.999966	P	0.46578	0.88	B	0.34301	0.179	T	0.56408	-0.7984	10	0.45353	T	0.12	.	13.6407	0.62249	0.0:0.9242:0.0:0.0758	rs1657738;rs59809956	15	Q14500	IRK12_HUMAN	L	15	ENSP00000328150:S15L	ENSP00000328150:S15L	S	+	2	0	KCNJ12	21259291	1.000000	0.71417	0.117000	0.21633	0.983000	0.72400	5.954000	0.70298	1.257000	0.44085	0.591000	0.81541	TCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_N	ENSG00000184185		0.711	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	8	0.00	0	C	NM_021012		21318698	21318698	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.996	T
KIAA1377	57562	genome.wustl.edu	37	11	101829065	101829065	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:101829065C>A	ENST00000263468.8	+	5	943	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L26I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	225								p.L225I(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AACTCAGAAACTCCTCGAAGA	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	120.0	117.0					11																	101829065		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.673C>A	11.37:g.101829065C>A	ENSP00000263468:p.Leu225Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.L225I	ENST00000263468.8	37	c.673	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230461	0.39399	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.13538	2.58;2.58	5.68	4.78	0.61160	.	0.235291	0.30043	N	0.010553	T	0.24084	0.0583	M	0.77103	2.36	0.25362	N	0.988773	P	0.42973	0.796	B	0.43754	0.43	T	0.12528	-1.0544	10	0.66056	D	0.02	0.0066	13.884	0.63698	0.0:0.9257:0.0:0.0743	.	225	Q9P2H0	K1377_HUMAN	I	225;26	ENSP00000263468:L225I;ENSP00000443184:L26I	ENSP00000263468:L225I	L	+	1	0	KIAA1377	101334275	0.991000	0.36638	1.000000	0.80357	0.784000	0.44337	1.756000	0.38390	1.418000	0.47098	-0.127000	0.14921	CTC	KIAA1377	-	NULL	ENSG00000110318		0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	687	0.00	0	C	NM_020802		101829065	101829065	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	430	20.37	110	SNP	0.998	A
KRT35	3886	genome.wustl.edu	37	17	39637093	39637093	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:39637093C>T	ENST00000393989.1	-	1	299	c.257G>A	c.(256-258)gGc>gAc	p.G86D	KRT35_ENST00000246639.2_Missense_Mutation_p.G56D	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	86	Head.|Poly-Gly.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.G86D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCAAACCAGCCCCCACCCCC	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	40.0	38.0					17																	39637093		2196	4299	6495	-	-	-	SO:0001583	missense	0			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.257G>A	17.37:g.39637093C>T	ENSP00000377558:p.Gly86Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O76012|Q92651	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G86D	ENST00000393989.1	37	c.257	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963435	0.53507	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.82893	-1.65;-1.66	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000009	D	0.82591	0.5070	M	0.68317	2.08	0.37849	D	0.929333	P	0.34587	0.458	B	0.36289	0.221	D	0.86251	0.1649	10	0.72032	D	0.01	.	15.4103	0.74914	0.0:1.0:0.0:0.0	.	86	Q92764	KRT35_HUMAN	D	56;86	ENSP00000246639:G56D;ENSP00000377558:G86D	ENSP00000246639:G56D	G	-	2	0	KRT35	36890619	0.588000	0.26799	1.000000	0.80357	0.882000	0.50991	5.149000	0.64863	2.545000	0.85829	0.462000	0.41574	GGC	KRT35	-	NULL	ENSG00000197079		0.637	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		49	0.00	0	C	NM_002280		39637093	39637093	-1	no_errors	ENST00000393989	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	T
KRTAP10-8	386681	genome.wustl.edu	37	21	46032028	46032028	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr21:46032028C>T	ENST00000334662.2	+	1	33	c.11C>T	c.(10-12)gCc>gTc	p.A4V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	4						keratin filament (GO:0045095)		p.A4V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ATGGCTGACGCCTGCTGCACC	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											180.0	134.0	150.0					21																	46032028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.11C>T	21.37:g.46032028C>T	ENSP00000335565:p.Ala4Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNW4	Missense_Mutation	SNP	pfam_PMG	p.A4V	ENST00000334662.2	37	c.11	CCDS13713.1	21	.	.	.	.	.	.	.	.	.	.	c	6.339	0.430666	0.12045	.	.	ENSG00000187766	ENST00000334662	T	0.00776	5.71	3.53	1.38	0.22167	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.19300	N	0.999975	B	0.02656	0.0	B	0.08055	0.003	T	0.48055	-0.9068	9	0.72032	D	0.01	.	9.29	0.37780	0.0:0.5775:0.4225:0.0	.	4	P60410	KR108_HUMAN	V	4	ENSP00000335565:A4V	ENSP00000335565:A4V	A	+	2	0	KRTAP10-8	44856456	0.002000	0.14202	0.972000	0.41901	0.092000	0.18411	1.193000	0.32162	0.402000	0.25451	0.467000	0.42956	GCC	KRTAP10-8	-	NULL	ENSG00000187766		0.602	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-8	HGNC	protein_coding	OTTHUMT00000128035.1	183	0.00	0	C	NM_198695		46032028	46032028	+1	no_errors	ENST00000334662	ensembl	human	known	69_37n	missense	155	25.36	53	SNP	0.844	T
LRP4	4038	genome.wustl.edu	37	11	46880600	46880600	+	Silent	SNP	T	T	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:46880600T>C	ENST00000378623.1	-	38	5894	c.5652A>G	c.(5650-5652)agA>agG	p.R1884R	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1884					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R1884R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGAGCCTCGTCTTTCTGGAG	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											78.0	60.0	66.0					11																	46880600		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5652A>G	11.37:g.46880600T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1884	ENST00000378623.1	37	c.5652	CCDS31478.1	11																																																																																			LRP4	-	NULL	ENSG00000134569		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	38	0.00	0	T	NM_002334		46880600	46880600	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	0.999	C
METAP2	10988	genome.wustl.edu	37	12	95888899	95888900	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr12:95888899_95888900GG>TT	ENST00000323666.5	+	6	986_987	c.757_758GG>TT	c.(757-759)GGa>TTa	p.G253L	METAP2_ENST00000551840.1_Missense_Mutation_p.G252L|METAP2_ENST00000261220.9_Missense_Mutation_p.G230L|METAP2_ENST00000550777.1_Missense_Mutation_p.G217L|METAP2_ENST00000546753.1_Missense_Mutation_p.G230L	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AATAGACTTTGGAACACATATA	0.381																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	Exception_encountered	12.37:g.95888899_95888900delinsTT	ENSP00000325312:p.Gly253Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation|Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.G253*|p.G253V	ENST00000323666.5	37	c.757|c.758	CCDS9052.1	12																																																																																			METAP2	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	ENSG00000111142		0.381	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	227|224	0.00|0.88	0|2	G	NM_006838		95888899|95888900	95888899|95888900	+1	no_errors	ENST00000323666	ensembl	human	known	69_37n	nonsense|missense	98|95	57.39|58.15	132	SNP	1.000	T
MYH4	4622	genome.wustl.edu	37	17	10366448	10366448	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:10366448A>G	ENST00000255381.2	-	10	973	c.863T>C	c.(862-864)aTa>aCa	p.I288T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	288	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.I288T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGATAAAATATGTGGTAGCT	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	96.0	96.0					17																	10366448		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.863T>C	17.37:g.10366448A>G	ENSP00000255381:p.Ile288Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I288T	ENST00000255381.2	37	c.863	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364556	0.82463	.	.	ENSG00000141048	ENST00000255381	D	0.92199	-2.99	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.38548	U	0.001644	D	0.97945	0.9324	H	0.99169	4.455	0.80722	D	1	D	0.63880	0.993	D	0.97110	1.0	D	0.99679	1.0998	10	0.87932	D	0	.	15.6589	0.77165	1.0:0.0:0.0:0.0	.	288	Q9Y623	MYH4_HUMAN	T	288	ENSP00000255381:I288T	ENSP00000255381:I288T	I	-	2	0	MYH4	10307173	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.280000	0.95786	2.153000	0.67306	0.528000	0.53228	ATA	MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000264424		0.383	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	196	0.00	0	A	NM_017533		10366448	10366448	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	missense	96	29.93	41	SNP	1.000	G
NIN	51199	genome.wustl.edu	37	14	51288724	51288724	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr14:51288724A>C	ENST00000382041.3	-	3	241	c.51T>G	c.(49-51)ttT>ttG	p.F17L	NIN_ENST00000530997.2_Missense_Mutation_p.F17L|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382043.4_Missense_Mutation_p.F17L|NIN_ENST00000453196.1_Missense_Mutation_p.F17L|NIN_ENST00000389868.3_Missense_Mutation_p.F17L|NIN_ENST00000324330.9_Missense_Mutation_p.F17L|NIN_ENST00000245441.5_Missense_Mutation_p.F17L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	17	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.F17L(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CAAAACTGTCAAACAGCTCCT	0.587			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	breast(1)											246.0	223.0	231.0					14																	51288724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.51T>G	14.37:g.51288724A>C	ENSP00000371472:p.Phe17Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.F17L	ENST00000382041.3	37	c.51	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897816	0.72639	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000496749	T;D;D;D;D;D;D	0.93189	-0.78;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.81	3.51	0.40186	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.87456	2.885	0.47862	D	0.999532	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	D;D;D;D	0.85130	0.996;0.987;0.996;0.997	D	0.95366	0.8460	10	0.72032	D	0.01	-16.4123	7.5789	0.27952	0.775:0.0:0.225:0.0	.	17;17;17;17	C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;NIN_HUMAN;.;.	L	17	ENSP00000245441:F17L;ENSP00000374518:F17L;ENSP00000371474:F17L;ENSP00000371472:F17L;ENSP00000324210:F17L;ENSP00000412391:F17L;ENSP00000431826:F17L	ENSP00000245441:F17L	F	-	3	2	NIN	50358474	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.616000	0.24344	1.038000	0.40049	0.533000	0.62120	TTT	NIN	-	pfscan_EF_HAND_2	ENSG00000100503		0.587	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	185	0.00	0	A	NM_182946		51288724	51288724	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	missense	124	22.50	36	SNP	1.000	C
OCIAD1	54940	genome.wustl.edu	37	4	48835499	48835499	+	Splice_Site	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr4:48835499G>A	ENST00000381473.3	+	3	557		c.e3+1		OCIAD1_ENST00000508293.1_Splice_Site|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Splice_Site|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000444354.2_Splice_Site|OCIAD1_ENST00000425583.2_Splice_Site|OCIAD1_ENST00000264312.7_Splice_Site|OCIAD1_ENST00000512981.1_Splice_Site|OCIAD1_ENST00000513391.2_Splice_Site	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1							endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.?(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGGTTCAGATGTGAGTTCAAT	0.333																																						dbGAP											1	Unknown(1)	breast(1)											48.0	50.0	50.0					4																	48835499		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.139+1G>A	4.37:g.48835499G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9K030|G8JLN7|Q9BZE8	Splice_Site	SNP	-	e2+1	ENST00000381473.3	37	c.139+1	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943179	0.73672	.	.	ENSG00000109180	ENST00000504654;ENST00000509664;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8864	0.79251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OCIAD1	48530256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.546000	0.85860	0.655000	0.94253	.	OCIAD1	-	-	ENSG00000109180		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	52	0.00	0	G	NM_017830	Intron	48835499	48835499	+1	no_errors	ENST00000264312	ensembl	human	known	69_37n	splice_site	37	21.28	10	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78412585	78412585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:78412585C>T	ENST00000278550.7	-	28	5535	c.5073G>A	c.(5071-5073)tgG>tgA	p.W1691*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1691					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.W1691*(2)									AAAATGTTGTCCATCCGTTTT	0.388																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											68.0	66.0	66.0					11																	78412585		1926	4132	6058	-	-	-	SO:0001587	stop_gained	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5073G>A	11.37:g.78412585C>T	ENSP00000278550:p.Trp1691*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.W1691*	ENST00000278550.7	37	c.5073	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	49	16.008716	0.99851	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	1691;155	.	.	W	-	3	0	ODZ4	78090233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	TGG	ODZ4	-	tigrfam_YD	ENSG00000149256		0.388	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	77	0.00	0	C			78412585	78412585	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	nonsense	38	13.64	6	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55582296	55582296	+	Silent	SNP	A	A	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr10:55582296A>G	ENST00000320301.6	-	33	5584	c.5190T>C	c.(5188-5190)atT>atC	p.I1730I	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I1661I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.I1727I|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.I1707I|PCDH15_ENST00000361849.3_Silent_p.I1732I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.I1690I|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1730					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1730I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTTTCAAAAATATTTCTTT	0.453										HNSCC(58;0.16)																												dbGAP											1	Substitution - coding silent(1)	breast(1)											40.0	41.0	40.0					10																	55582296		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5190T>C	10.37:g.55582296A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I1730	ENST00000320301.6	37	c.5190	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.453	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	164	0.00	0	A	NM_033056		55582296	55582296	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	silent	107	26.71	39	SNP	0.009	G
PCDHGA12	26025	genome.wustl.edu	37	5	140811927	140811927	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr5:140811927C>T	ENST00000252085.3	+	1	1743	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A534V(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGATGGCGCGGGACAAC	0.597																																						dbGAP											4	Substitution - Missense(4)	large_intestine(2)|breast(2)											123.0	137.0	132.0					5																	140811927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1601C>T	5.37:g.140811927C>T	ENSP00000252085:p.Ala534Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A534V	ENST00000252085.3	37	c.1601	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	c	12.89	2.072333	0.36566	.	.	ENSG00000253159	ENST00000252085	T	0.73363	-0.74	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.87224	0.6124	M	0.90082	3.085	0.35553	D	0.804033	D;D	0.89917	0.999;1.0	D;D	0.70016	0.967;0.954	D	0.91456	0.5185	9	0.49607	T	0.09	.	12.6273	0.56636	0.0:0.9133:0.0:0.0867	.	534;534	O60330-2;O60330	.;PCDGC_HUMAN	V	534	ENSP00000252085:A534V	ENSP00000252085:A534V	A	+	2	0	PCDHGA12	140792111	0.437000	0.25593	0.075000	0.20258	0.021000	0.10359	1.108000	0.31123	2.436000	0.82500	0.561000	0.74099	GCG	PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253159		0.597	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	74	0.00	0	C	NM_003735		140811927	140811927	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	missense	69	31.68	32	SNP	0.995	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	159	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	46	89.52	393	SNP	1.000	G
POM121	9883	genome.wustl.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	NULL	p.1065in_frame_insS	ENST00000434423.2	37	c.3191_3192		7																																																																																			POM121	-	NULL	ENSG00000196313		0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	10	0.00	0	-			72413723	72413724	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	in_frame_ins	5	37.50	3	INS	0.980:0.870	CTC
PTGFR	5737	genome.wustl.edu	37	1	78958991	78958991	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr1:78958991A>C	ENST00000370757.3	+	2	800	c.563A>C	c.(562-564)tAc>tCc	p.Y188S	PTGFR_ENST00000370756.3_Missense_Mutation_p.Y188S|PTGFR_ENST00000370758.1_Missense_Mutation_p.Y188S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	188					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.Y188S(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TGGTGTTTCTACAACACAGAA	0.418																																						dbGAP											2	Substitution - Missense(2)	breast(2)											122.0	125.0	124.0					1																	78958991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.563A>C	1.37:g.78958991A>C	ENSP00000359793:p.Tyr188Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y188S	ENST00000370757.3	37	c.563	CCDS686.1	1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464572	0.63513	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37411	1.2;1.2;1.2	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.116455	0.64402	D	0.000012	T	0.22975	0.0555	N	0.08118	0	0.44595	D	0.997563	P;D	0.60575	0.891;0.988	P;P	0.58520	0.673;0.84	T	0.25467	-1.0131	10	0.62326	D	0.03	-17.1265	11.6071	0.51039	0.8672:0.0:0.0:0.1328	.	188;188	P43088;P43088-2	PF2R_HUMAN;.	S	188	ENSP00000359794:Y188S;ENSP00000359793:Y188S;ENSP00000359792:Y188S	ENSP00000359792:Y188S	Y	+	2	0	PTGFR	78731579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.501000	0.73691	2.371000	0.80710	0.533000	0.62120	TAC	PTGFR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_PglndnF_rcpt	ENSG00000122420		0.418	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFR	HGNC	protein_coding	OTTHUMT00000026582.1	182	0.00	0	A	NM_000959		78958991	78958991	+1	no_errors	ENST00000370757	ensembl	human	known	69_37n	missense	106	19.70	26	SNP	1.000	C
RFC1	5981	genome.wustl.edu	37	4	39314522	39314522	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr4:39314522T>C	ENST00000381897.1	-	11	1366	c.1233A>G	c.(1231-1233)atA>atG	p.I411M	RFC1_ENST00000349703.2_Missense_Mutation_p.I411M	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	411	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.I411M(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGATTACAAATATAAGGCCTT	0.393																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	100.0	102.0					4																	39314522		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1233A>G	4.37:g.39314522T>C	ENSP00000371321:p.Ile411Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.I411M	ENST00000381897.1	37	c.1233	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037080	0.35893	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.80033	-1.33;-1.33;-1.33	5.82	-7.13	0.01532	BRCT (4);	0.371554	0.36444	N	0.002584	T	0.61788	0.2375	L	0.32530	0.975	0.20307	N	0.999912	B;B	0.15141	0.003;0.012	B;B	0.25140	0.058;0.019	T	0.47484	-0.9114	10	0.87932	D	0	-1.5149	3.3973	0.07311	0.1036:0.3453:0.3193:0.2317	.	411;411	P35251;P35251-2	RFC1_HUMAN;.	M	411;411;43	ENSP00000371321:I411M;ENSP00000261424:I411M;ENSP00000422129:I43M	ENSP00000261424:I411M	I	-	3	3	RFC1	38990917	0.572000	0.26668	0.002000	0.10522	0.847000	0.48162	-0.137000	0.10389	-1.656000	0.01495	-1.563000	0.00883	ATA	RFC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	ENSG00000035928		0.393	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	584	0.00	0	T	NM_002913		39314522	39314522	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	259	50.85	270	SNP	0.105	C
RHEB	6009	genome.wustl.edu	37	7	151188068	151188068	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr7:151188068C>T	ENST00000262187.5	-	2	497	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	29					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.G29S(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		ACAAATTGGCCTTCAACAAAT	0.333																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	96.0	97.0					7																	151188068		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.85G>A	7.37:g.151188068C>T	ENSP00000262187:p.Gly29Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G29S	ENST00000262187.5	37	c.85	CCDS5927.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.232067	0.95207	.	.	ENSG00000106615	ENST00000262187	T	0.80480	-1.38	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	L	0.61036	1.89	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.88548	0.3114	10	0.66056	D	0.02	.	16.6965	0.85337	0.0:1.0:0.0:0.0	.	29	Q15382	RHEB_HUMAN	S	29	ENSP00000262187:G29S	ENSP00000262187:G29S	G	-	1	0	RHEB	150819001	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.824000	0.75288	2.537000	0.85549	0.655000	0.94253	GGC	RHEB	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000106615		0.333	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEB	HGNC	protein_coding	OTTHUMT00000348468.2	176	0.00	0	C	NM_005614		151188068	151188068	-1	no_errors	ENST00000262187	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	1.000	T
POMK	84197	genome.wustl.edu	37	8	42977743	42977743	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr8:42977743T>C	ENST00000331373.5	+	5	1031	c.776T>C	c.(775-777)cTg>cCg	p.L259P		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)	p.L259P(1)									CCAGAGCAACTGTGGCCCTAT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	68.0	72.0					8																	42977743		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.776T>C	8.37:g.42977743T>C	ENSP00000331258:p.Leu259Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.L259P	ENST00000331373.5	37	c.776	CCDS6141.1	8	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570832	0.65765	.	.	ENSG00000185900	ENST00000331373	T	0.27720	1.65	5.29	5.29	0.74685	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.069492	0.56097	D	0.000029	T	0.56746	0.2006	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.61618	-0.7026	9	.	.	.	1.7809	13.4736	0.61295	0.0:0.0:0.0:1.0	.	259	Q9H5K3	SG196_HUMAN	P	259	ENSP00000331258:L259P	.	L	+	2	0	AC113191.1	43096900	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.180000	0.50895	2.129000	0.65627	0.482000	0.46254	CTG	SGK196	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000185900		0.537	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK196	Clone_based_vega_gene	protein_coding	OTTHUMT00000377291.2	74	0.00	0	T	NM_032237		42977743	42977743	+1	no_errors	ENST00000331373	ensembl	human	known	69_37n	missense	99	17.50	21	SNP	1.000	C
SLC12A1	6557	genome.wustl.edu	37	15	48580714	48580714	+	Splice_Site	SNP	G	G	A	rs201930377		TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr15:48580714G>A	ENST00000558405.1	+	22	2887		c.e22+1		SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000396577.3_Splice_Site			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.?(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAAAATTGTGTAAGTAGTTT	0.333																																						dbGAP											2	Unknown(2)	breast(2)											30.0	27.0	28.0					15																	48580714		2185	4251	6436	-	-	-	SO:0001630	splice_region_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2873+1G>A	15.37:g.48580714G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8JYA2|E9PDW4	Splice_Site	SNP	-	e22+1	ENST00000558405.1	37	c.2873+1	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222840	0.58668	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2036	0.93720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A1	46368006	1.000000	0.71417	0.956000	0.39512	0.516000	0.34256	9.281000	0.95811	2.552000	0.86080	0.655000	0.94253	.	SLC12A1	-	-	ENSG00000074803		0.333	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	12	0.00	0	G		Intron	48580714	48580714	+1	no_errors	ENST00000380993	ensembl	human	known	69_37n	splice_site	22	26.67	8	SNP	1.000	A
SLC35F1	222553	genome.wustl.edu	37	6	118556692	118556692	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:118556692A>C	ENST00000360388.4	+	3	571	c.370A>C	c.(370-372)Att>Ctt	p.I124L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	124					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.I124L(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTCCTGGCAATTTTACGACG	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	101.0	103.0					6																	118556692		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.370A>C	6.37:g.118556692A>C	ENSP00000353557:p.Ile124Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.I124L	ENST00000360388.4	37	c.370	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761022	0.31137	.	.	ENSG00000196376	ENST00000360388	T	0.68025	-0.3	5.78	5.78	0.91487	.	0.140255	0.50627	D	0.000116	T	0.40595	0.1123	L	0.31371	0.925	0.50171	D	0.999852	B	0.19817	0.039	B	0.26969	0.075	T	0.38650	-0.9651	10	0.13853	T	0.58	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	124	Q5T1Q4	S35F1_HUMAN	L	124	ENSP00000353557:I124L	ENSP00000353557:I124L	I	+	1	0	SLC35F1	118663385	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	5.777000	0.68931	2.333000	0.79357	0.533000	0.62120	ATT	SLC35F1	-	pfam_DUF914_euk,pfam_DMT	ENSG00000196376		0.373	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	257	0.39	1	A	XM_167044		118556692	118556692	+1	no_errors	ENST00000360388	ensembl	human	known	69_37n	missense	229	13.91	37	SNP	1.000	C
SPRTN	83932	genome.wustl.edu	37	1	231488908	231488908	+	Missense_Mutation	SNP	A	A	G	rs200999774	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr1:231488908A>G	ENST00000295050.7	+	5	1607	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	424					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)	p.K424R(1)									TTTATCAAGAAAGAGCAAATA	0.393													A|||	7	0.00139776	0.0	0.0	5008	,	,		20572	0.005		0.0	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	59.0	59.0					1																	231488908		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1271A>G	1.37:g.231488908A>G	ENSP00000295050:p.Lys424Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.K424R	ENST00000295050.7	37	c.1271	CCDS1594.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.43	2.830724	0.50845	.	.	ENSG00000010072	ENST00000295050	T	0.50277	0.75	5.58	4.45	0.53987	.	0.437847	0.23702	N	0.045406	T	0.35364	0.0929	L	0.34521	1.04	0.80722	D	1	B	0.29508	0.246	B	0.22753	0.041	T	0.14008	-1.0488	10	0.52906	T	0.07	-22.0189	11.2893	0.49241	0.9285:0.0:0.0715:0.0	.	424	Q9H040	CA124_HUMAN	R	424	ENSP00000295050:K424R	ENSP00000295050:K424R	K	+	2	0	C1orf124	229555531	0.655000	0.27376	0.120000	0.21714	0.388000	0.30384	1.189000	0.32114	0.946000	0.37632	0.523000	0.50628	AAA	SPRTN	-	NULL	ENSG00000010072		0.393	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	141	0.00	0	A	NM_032018		231488908	231488908	+1	no_errors	ENST00000295050	ensembl	human	known	69_37n	missense	153	13.07	23	SNP	0.639	G
SPTB	6710	genome.wustl.edu	37	14	65216860	65216862	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr14:65216860_65216862delGTT	ENST00000556626.1	-	34	6755_6757	c.6613_6615delAAC	c.(6613-6615)aacdel	p.N2205del	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_In_Frame_Del_p.N2205del			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.N2205delN(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACAGTACAGGTTGTTCCAGGAC	0.498																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6613_6615delAAC	14.37:g.65216863_65216865delGTT	ENSP00000451752:p.Asn2205del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	In_Frame_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.N2205in_frame_del	ENST00000556626.1	37	c.6615_6613	CCDS32099.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology	ENSG00000070182		0.498	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414076.1	27	0.00	0	GTT			65216860	65216862	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	in_frame_del	12	29.41	5	DEL	0.994:1.000:1.000	-
SSH3	54961	genome.wustl.edu	37	11	67077326	67077326	+	Silent	SNP	C	C	T	rs561698271		TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr11:67077326C>T	ENST00000308127.4	+	12	1474	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	SSH3_ENST00000376757.5_Silent_p.Y432Y|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	432	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGAAGCAGTACGAATGCAGCC	0.667																																						dbGAP											0													58.0	60.0	59.0					11																	67077326		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1296C>T	11.37:g.67077326C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y432	ENST00000308127.4	37	c.1296	CCDS8157.1	11																																																																																			SSH3	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000172830		0.667	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	15	0.00	0	C	NM_018276		67077326	67077326	+1	no_errors	ENST00000308127	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	0.797	T
TBX18	9096	genome.wustl.edu	37	6	85448248	85448248	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:85448248T>G	ENST00000369663.5	-	7	1403	c.1066A>C	c.(1066-1068)Acc>Ccc	p.T356P	TBX18_ENST00000606784.1_Missense_Mutation_p.T198P	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	356					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T356P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTTCAAAGGTCAGAGTCCGT	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											220.0	207.0	212.0					6																	85448248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1066A>C	6.37:g.85448248T>G	ENSP00000358677:p.Thr356Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.T356P	ENST00000369663.5	37	c.1066	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534145	0.85812	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.87887	-2.31	5.54	5.54	0.83059	.	1.471900	0.03535	N	0.223031	D	0.88865	0.6553	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.922;0.999	T	0.78288	-0.2262	10	0.30854	T	0.27	.	15.9735	0.80040	0.0:0.0:0.0:1.0	.	272;356	Q8IW86;O95935	.;TBX18_HUMAN	P	271;356	ENSP00000358677:T356P	ENSP00000358677:T356P	T	-	1	0	TBX18	85504967	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.917000	0.69989	2.234000	0.73211	0.528000	0.53228	ACC	TBX18	-	NULL	ENSG00000112837		0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	354	0.00	0	T	NM_001080508		85448248	85448248	-1	no_errors	ENST00000369663	ensembl	human	known	69_37n	missense	244	18.67	56	SNP	1.000	G
TEX11	56159	genome.wustl.edu	37	X	69773227	69773227	+	Silent	SNP	A	A	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chrX:69773227A>G	ENST00000395889.2	-	28	2528	c.2373T>C	c.(2371-2373)atT>atC	p.I791I	TEX11_ENST00000344304.3_Silent_p.I791I|TEX11_ENST00000374333.2_Silent_p.I776I|TEX11_ENST00000374320.2_Silent_p.I466I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	791					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.I776I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCTTGAGAGCAATCAAAGGAT	0.368																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											93.0	79.0	84.0					X																	69773227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2373T>C	X.37:g.69773227A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.I791	ENST00000395889.2	37	c.2373	CCDS35323.1	X																																																																																			TEX11	-	NULL	ENSG00000120498		0.368	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	101	0.98	1	A			69773227	69773227	-1	no_errors	ENST00000344304	ensembl	human	known	69_37n	silent	107	14.40	18	SNP	0.003	G
TNFSF13	8741	genome.wustl.edu	37	17	7462459	7462460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:7462459_7462460insG	ENST00000338784.4	+	1	546_547	c.103_104insG	c.(103-105)tggfs	p.W35fs	TNFSF13_ENST00000380535.4_Frame_Shift_Ins_p.W35fs|TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000396542.1_Frame_Shift_Ins_p.W18fs|TNFSF13_ENST00000396545.4_Frame_Shift_Ins_p.W35fs|TNFSF13_ENST00000349228.4_Frame_Shift_Ins_p.W35fs|SENP3_ENST00000321337.7_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	35					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)	p.A37fs*88(2)		large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				CTGGTTGAGTTGGGGGGCAGCT	0.639																																						dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.109dupG	17.37:g.7462465_7462465dupG	ENSP00000343505:p.Trp35fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Frame_Shift_Ins	INS	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.A37fs	ENST00000338784.4	37	c.103_104	CCDS11111.1	17																																																																																			TNFSF13	-	NULL	ENSG00000161955		0.639	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13	HGNC	protein_coding	OTTHUMT00000226948.2	15	0.00	0	-	NM_003808		7462459	7462460	+1	no_errors	ENST00000338784	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	1.000:1.000	G
TP53	7157	genome.wustl.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	GRCh37	CD962734	TP53	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R209fs	ENST00000269305.4	37	c.627_626	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	72	0.00	0	TC	NM_000546		7578222	7578223	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	42	55.67	54	DEL	0.000:0.000	-
TPR	7175	genome.wustl.edu	37	1	186315302	186315302	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr1:186315302C>G	ENST00000367478.4	-	23	3357	c.3061G>C	c.(3061-3063)Gat>Cat	p.D1021H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1021					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.D1022H(1)|p.D1021H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCTTTTATCATCCTGAAGT	0.318			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	breast(2)											227.0	197.0	206.0					1																	186315302		1846	4098	5944	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3061G>C	1.37:g.186315302C>G	ENSP00000356448:p.Asp1021His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.D1021H	ENST00000367478.4	37	c.3061	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142283	0.57044	.	.	ENSG00000047410	ENST00000367478	T	0.23950	1.88	5.66	5.66	0.87406	Prefoldin (1);	0.197998	0.52532	D	0.000073	T	0.16428	0.0395	N	0.08118	0	0.38333	D	0.943855	P	0.38642	0.641	B	0.34722	0.188	T	0.15235	-1.0444	10	0.87932	D	0	.	18.7343	0.91749	0.0:1.0:0.0:0.0	.	1021	P12270	TPR_HUMAN	H	1021	ENSP00000356448:D1021H	ENSP00000356448:D1021H	D	-	1	0	TPR	184581925	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.106000	0.57804	2.645000	0.89757	0.650000	0.86243	GAT	TPR	-	superfamily_Prefoldin	ENSG00000047410		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	171	0.00	0	C	NM_003292		186315302	186315302	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	192	12.33	27	SNP	1.000	G
TSPO2	222642	genome.wustl.edu	37	6	41011722	41011722	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:41011722C>T	ENST00000373161.1	+	4	604	c.359C>T	c.(358-360)aCa>aTa	p.T120I	TSPO2_ENST00000470917.1_Missense_Mutation_p.T120I|TSPO2_ENST00000373158.2_3'UTR	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	120					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.T120I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGGTGAGCACAGCACTGATC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											125.0	83.0	97.0					6																	41011722		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.359C>T	6.37:g.41011722C>T	ENSP00000362255:p.Thr120Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	pfam_TspO_MBR,pirsf_TspO_MBR	p.T120I	ENST00000373161.1	37	c.359	CCDS34444.1	6	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304303	0.23736	.	.	ENSG00000112212	ENST00000373161;ENST00000470917	T;T	0.49432	0.78;0.78	4.81	-2.58	0.06228	.	0.349316	0.32231	N	0.006383	T	0.31358	0.0794	M	0.82517	2.595	0.21579	N	0.999639	P	0.34892	0.474	B	0.37833	0.259	T	0.45702	-0.9243	10	0.54805	T	0.06	-4.7776	10.8225	0.46612	0.0:0.4304:0.0:0.5696	.	120	Q5TGU0	TSPO2_HUMAN	I	120	ENSP00000362255:T120I;ENSP00000419985:T120I	ENSP00000362255:T120I	T	+	2	0	TSPO2	41119700	0.000000	0.05858	0.007000	0.13788	0.800000	0.45204	-0.934000	0.03955	-0.499000	0.06623	0.462000	0.41574	ACA	TSPO2	-	pfam_TspO_MBR,pirsf_TspO_MBR	ENSG00000112212		0.622	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPO2	HGNC	protein_coding	OTTHUMT00000040493.1	46	0.00	0	C	NM_001010873.2		41011722	41011722	+1	no_errors	ENST00000373161	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	0.007	T
TTN	7273	genome.wustl.edu	37	2	179408032	179408032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr2:179408032C>T	ENST00000591111.1	-	297	91969	c.91745G>A	c.(91744-91746)tGg>tAg	p.W30582*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W29655*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W23283*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W23158*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W23350*|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W32223*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30582	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W23158*(1)|p.W23350*(1)|p.W23283*(1)|p.W29653*(1)|p.W29655*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTTTTCCCAGGCAAGGGT	0.493																																						dbGAP											5	Substitution - Nonsense(5)	breast(5)											134.0	124.0	127.0					2																	179408032		1924	4131	6055	-	-	-	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91745G>A	2.37:g.179408032C>T	ENSP00000465570:p.Trp30582*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.W29655*	ENST00000591111.1	37	c.88964		2	.	.	.	.	.	.	.	.	.	.	C	68	105.890793	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6891	0.95991	0.0:1.0:0.0:0.0	.	.	.	.	X	29655;23158;23350;23283;23155	.	ENSP00000340554:W23350X	W	-	2	0	TTN	179116278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.706000	0.92434	0.655000	0.94253	TGG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	239	0.00	0	C	NM_133378		179408032	179408032	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	nonsense	216	19.70	53	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179442793	179442793	+	Nonsense_Mutation	SNP	G	G	A	rs371678190		TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr2:179442793G>A	ENST00000591111.1	-	272	63750	c.63526C>T	c.(63526-63528)Cga>Tga	p.R21176*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R20249*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R13877*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R13752*|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R13944*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R22817*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21176	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATAACTCGGAATTCATAT	0.423																																						dbGAP											5	Substitution - Nonsense(5)	breast(5)											115.0	108.0	110.0					2																	179442793		1888	4122	6010	-	-	-	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63526C>T	2.37:g.179442793G>A	ENSP00000465570:p.Arg21176*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R20249*	ENST00000591111.1	37	c.60745		2	.	.	.	.	.	.	.	.	.	.	G	62	64.110339	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.83	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4749	0.75471	0.0:0.0:0.2295:0.7705	.	.	.	.	X	20249;13752;13944;13877;13750	.	ENSP00000340554:R13944X	R	-	1	2	TTN	179151039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.767000	0.38501	0.312000	0.23038	0.650000	0.86243	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	137	0.00	0	G	NM_133378		179442793	179442793	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	nonsense	100	24.81	33	SNP	1.000	A
TXLNB	167838	genome.wustl.edu	37	6	139563701	139563701	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr6:139563701G>A	ENST00000358430.3	-	10	2249	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	673						cytoplasm (GO:0005737)		p.R673C(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCACGTTGCGCGGCTGGGGC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											41.0	48.0	46.0					6																	139563701		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.2017C>T	6.37:g.139563701G>A	ENSP00000351206:p.Arg673Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin	p.R673C	ENST00000358430.3	37	c.2017	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067892	0.36470	.	.	ENSG00000164440	ENST00000358430	T	0.15952	2.38	5.17	4.29	0.51040	.	0.866146	0.10433	N	0.675244	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.27796	0.083	T	0.38585	-0.9654	9	.	.	.	-3.4411	9.7813	0.40649	0.0945:0.0:0.9055:0.0	.	673	Q8N3L3	TXLNB_HUMAN	C	673	ENSP00000351206:R673C	.	R	-	1	0	TXLNB	139605394	0.114000	0.22134	0.042000	0.18584	0.001000	0.01503	1.072000	0.30678	1.382000	0.46385	0.655000	0.94253	CGC	TXLNB	-	NULL	ENSG00000164440		0.617	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	48	0.00	0	G	NM_153235		139563701	139563701	-1	no_errors	ENST00000358430	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.016	A
U2SURP	23350	genome.wustl.edu	37	3	142738838	142738838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr3:142738838delA	ENST00000473835.2	+	7	688	c.598delA	c.(598-600)aaafs	p.K201fs	U2SURP_ENST00000493598.2_Frame_Shift_Del_p.K201fs|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	201					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAAGAAAAGAAAAAAAGCAA	0.299																																						dbGAP											0													52.0	49.0	50.0					3																	142738838		1740	3970	5710	-	-	-	SO:0001589	frameshift_variant	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.598delA	3.37:g.142738838delA	ENSP00000418563:p.Lys201fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Frame_Shift_Del	DEL	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.S202fs	ENST00000473835.2	37	c.598	CCDS46928.1	3																																																																																			U2SURP	-	NULL	ENSG00000163714		0.299	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	22	0.00	0	A	NM_001080415		142738838	142738838	+1	no_errors	ENST00000319822	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
UMODL1	89766	genome.wustl.edu	37	21	43508466	43508466	+	Silent	SNP	C	C	T	rs571781846	byFrequency	TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr21:43508466C>T	ENST00000408910.2	+	5	666	c.666C>T	c.(664-666)aaC>aaT	p.N222N	UMODL1_ENST00000400427.1_Silent_p.N150N|UMODL1_ENST00000408989.2_Silent_p.N222N|UMODL1_ENST00000400424.2_Silent_p.N150N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	222					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.N150N(1)|p.N222N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGGAACGCCTCCACCA	0.627													C|||	5	0.000998403	0.0	0.0	5008	,	,		16979	0.001		0.001	False		,,,				2504	0.0031				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											2	Substitution - coding silent(2)	breast(2)											51.0	57.0	55.0					21																	43508466		2117	4241	6358	-	-	-	SO:0001819	synonymous_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.666C>T	21.37:g.43508466C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3	p.T58M	ENST00000408910.2	37	c.173	CCDS42936.1	21																																																																																			UMODL1	-	NULL	ENSG00000177398		0.627	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	17	0.00	0	C			43508466	43508466	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000400421	ensembl	human	known	69_37n	missense	10	25.00	4	SNP	0.139	T
UPF2	26019	genome.wustl.edu	37	10	12071392	12071392	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr10:12071392G>C	ENST00000356352.2	-	2	970	c.497C>G	c.(496-498)tCa>tGa	p.S166*	UPF2_ENST00000397053.2_Nonsense_Mutation_p.S166*|UPF2_ENST00000357604.5_Nonsense_Mutation_p.S166*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	166					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S166*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTCAAACTTGAGTCGAGGCG	0.403																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											102.0	111.0	108.0					10																	12071392		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.497C>G	10.37:g.12071392G>C	ENSP00000348708:p.Ser166*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.S166*	ENST00000356352.2	37	c.497	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.583924	0.97684	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	X	166;166;136;166;136	.	ENSP00000313617:S136X	S	-	2	0	UPF2	12111398	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.751000	0.98889	2.797000	0.96272	0.563000	0.77884	TCA	UPF2	-	NULL	ENSG00000151461		0.403	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	239	0.42	1	G			12071392	12071392	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	nonsense	249	19.94	62	SNP	1.000	C
UPP1	7378	genome.wustl.edu	37	7	48147911	48147911	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr7:48147911G>A	ENST00000331803.4	+	10	1513	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	UPP1_ENST00000429491.2_Missense_Mutation_p.R160Q|UPP1_ENST00000341253.4_Missense_Mutation_p.R297Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.R297Q			Q16831	UPP1_HUMAN	uridine phosphorylase 1	297					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R297Q(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGGCCGCAGCGGCTGGTGAGC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	59.0	58.0					7																	48147911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.890G>A	7.37:g.48147911G>A	ENSP00000330032:p.Arg297Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.R297Q	ENST00000331803.4	37	c.890	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842035	0.32513	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.31	4.31	0.51392	Nucleoside phosphorylase domain (1);	0.251420	0.39274	N	0.001420	T	0.73337	0.3574	L	0.41573	1.285	0.30882	N	0.731366	B;B	0.32862	0.387;0.178	B;B	0.18871	0.023;0.023	T	0.65154	-0.6237	10	0.13108	T	0.6	-28.3028	3.8495	0.08949	0.3209:0.0:0.6791:0.0	.	160;297	Q86Y75;Q16831	.;UPP1_HUMAN	Q	297;297;297;160	ENSP00000330032:R297Q;ENSP00000342878:R297Q;ENSP00000378931:R297Q;ENSP00000406224:R160Q	ENSP00000330032:R297Q	R	+	2	0	UPP1	48114436	0.998000	0.40836	0.923000	0.36655	0.953000	0.61014	3.181000	0.50903	2.477000	0.83638	0.585000	0.79938	CGG	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.597	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1	50	0.00	0	G	NM_003364		48147911	48147911	+1	no_errors	ENST00000331803	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	0.938	A
USO1	8615	genome.wustl.edu	37	4	76703933	76703933	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr4:76703933G>A	ENST00000538159.1	+	9	783	c.783G>A	c.(781-783)atG>atA	p.M261I	USO1_ENST00000514213.2_Missense_Mutation_p.M244I			O60763	USO1_HUMAN	USO1 vesicle transport factor	259	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.M261I(1)|p.M187I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCAACGTATGAAACCTTGGT	0.323																																						dbGAP											2	Substitution - Missense(2)	breast(2)											41.0	39.0	40.0					4																	76703933		1806	4077	5883	-	-	-	SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.783G>A	4.37:g.76703933G>A	ENSP00000440586:p.Met261Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.M261I	ENST00000538159.1	37	c.783		4	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574181	0.65878	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.42131	0.98;0.98	5.68	5.68	0.88126	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.00841	-1.15	0.80722	D	1	B;B	0.20052	0.041;0.006	B;B	0.24541	0.054;0.013	T	0.20874	-1.0262	10	0.42905	T	0.14	.	19.79	0.96453	0.0:0.0:1.0:0.0	.	261;259	F5GYR8;O60763	.;USO1_HUMAN	I	94;261;244;187	ENSP00000440586:M261I;ENSP00000444850:M244I	ENSP00000264904:M187I	M	+	3	0	USO1	76922957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.224000	0.95209	2.654000	0.90174	0.655000	0.94253	ATG	USO1	-	superfamily_ARM-type_fold	ENSG00000138768		0.323	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		64	0.00	0	G	NM_003715		76703933	76703933	+1	no_errors	ENST00000538159	ensembl	human	known	69_37n	missense	66	53.52	76	SNP	1.000	A
ZNF831	128611	genome.wustl.edu	37	20	57769143	57769143	+	Silent	SNP	G	G	A			TCGA-A8-A06U-01A-11W-A019-09	TCGA-A8-A06U-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	277c2e8a-dd28-4b8f-96d3-ea790a1986b6	115bb522-26a3-418d-90bb-e786e9c87b88	g.chr20:57769143G>A	ENST00000371030.2	+	1	3069	c.3069G>A	c.(3067-3069)ggG>ggA	p.G1023G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1023							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G1023G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGTTGGGGGGGGACAAGG	0.682																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											19.0	23.0	22.0					20																	57769143		2001	4175	6176	-	-	-	SO:0001819	synonymous_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3069G>A	20.37:g.57769143G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1023	ENST00000371030.2	37	c.3069	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	15	0.00	0	G	NM_178457		57769143	57769143	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	silent	17	22.73	5	SNP	0.011	A
