#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
ABCB10	23456	genome.wustl.edu	37	1	229683401	229683401	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr1:229683401G>C	ENST00000344517.4	-	3	808	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L256V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCTGCCTCAGAATGGAGGAG	0.478																																						dbGAP											1	Substitution - Missense(1)	lung(1)											64.0	67.0	66.0					1																	229683401		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.766C>G	1.37:g.229683401G>C	ENSP00000355637:p.Leu256Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L256V	ENST00000344517.4	37	c.766	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226202	0.39300	.	.	ENSG00000135776	ENST00000344517	D	0.91843	-2.92	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.065772	0.64402	D	0.000009	D	0.87229	0.6125	L	0.48218	1.51	0.54753	D	0.99998	B	0.21225	0.053	B	0.26770	0.073	T	0.80420	-0.1390	10	0.28530	T	0.3	-14.9697	5.9926	0.19476	0.0738:0.136:0.6494:0.1407	.	256	Q9NRK6	ABCBA_HUMAN	V	256	ENSP00000355637:L256V	ENSP00000355637:L256V	L	-	1	2	ABCB10	227750024	0.985000	0.35326	0.960000	0.40013	0.978000	0.69477	1.613000	0.36900	2.676000	0.91093	0.561000	0.74099	CTG	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000135776		0.478	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	132	0.00	0	G	NM_012089		229683401	229683401	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	0.817	C
AHNAK	79026	genome.wustl.edu	37	11	62295540	62295540	+	Missense_Mutation	SNP	T	T	C	rs373183403		TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr11:62295540T>C	ENST00000378024.4	-	5	6623	c.6349A>G	c.(6349-6351)Atc>Gtc	p.I2117V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2117					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATGGAGATCTTGGGGGCC	0.517																																						dbGAP											0													191.0	204.0	200.0					11																	62295540		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6349A>G	11.37:g.62295540T>C	ENSP00000367263:p.Ile2117Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I2117V	ENST00000378024.4	37	c.6349	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	1.001	-0.690951	0.03303	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00717	5.79	3.66	1.23	0.21249	.	.	.	.	.	T	0.01254	0.0041	M	0.75884	2.315	0.29024	N	0.8861	B	0.29862	0.259	B	0.32980	0.156	T	0.34601	-0.9822	9	0.17369	T	0.5	.	6.7457	0.23460	0.0:0.2961:0.0:0.7039	.	2117	Q09666	AHNK_HUMAN	V	206;2117	ENSP00000367263:I2117V	ENSP00000244934:I206V	I	-	1	0	AHNAK	62052116	1.000000	0.71417	0.940000	0.37924	0.482000	0.33219	3.740000	0.55082	0.025000	0.15241	0.248000	0.18094	ATC	AHNAK	-	NULL	ENSG00000124942		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	197	0.00	0	T	NM_024060		62295540	62295540	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	287	16.08	55	SNP	1.000	C
CARD9	64170	genome.wustl.edu	37	9	139266359	139266359	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr9:139266359T>C	ENST00000371732.5	-	2	337	c.172A>G	c.(172-174)Aaa>Gaa	p.K58E	CARD9_ENST00000315908.7_Missense_Mutation_p.K58E|CARD9_ENST00000371734.3_Missense_Mutation_p.K58E	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	58	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACTTTCCGTTTGCGGATGACC	0.637																																						dbGAP											0													186.0	193.0	190.0					9																	139266359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.172A>G	9.37:g.139266359T>C	ENSP00000360797:p.Lys58Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.K58E	ENST00000371732.5	37	c.172	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619512	0.28801	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.19532	2.14;2.14;2.14	4.64	4.64	0.57946	DEATH-like (2);Caspase Recruitment (2);	0.059162	0.64402	D	0.000011	T	0.28167	0.0695	L	0.41236	1.265	0.41743	D	0.989622	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.62298	0.84;0.9;0.9	T	0.04664	-1.0935	10	0.02654	T	1	-45.3271	13.3716	0.60717	0.0:0.0:0.0:1.0	.	58;58;58	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	E	58	ENSP00000360799:K58E;ENSP00000360797:K58E;ENSP00000323719:K58E	ENSP00000323719:K58E	K	-	1	0	CARD9	138386180	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	3.521000	0.53472	1.953000	0.56701	0.448000	0.29417	AAA	CARD9	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000187796		0.637	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	30	0.00	0	T	NM_052813		139266359	139266359	-1	no_errors	ENST00000371732	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	C
CMYA5	202333	genome.wustl.edu	37	5	79032395	79032395	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr5:79032395G>A	ENST00000446378.2	+	2	7838	c.7807G>A	c.(7807-7809)Gca>Aca	p.A2603T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2603					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCATGCTCGCAGAGGCTCA	0.393																																						dbGAP											0													60.0	61.0	60.0					5																	79032395		1854	4108	5962	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7807G>A	5.37:g.79032395G>A	ENSP00000394770:p.Ala2603Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A2603T	ENST00000446378.2	37	c.7807	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	3.772	-0.047442	0.07407	.	.	ENSG00000164309	ENST00000446378	T	0.14516	2.5	5.05	1.26	0.21427	.	0.885835	0.09545	N	0.787772	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44406	-0.9330	10	0.18276	T	0.48	.	1.7665	0.03003	0.1712:0.0914:0.1675:0.5699	.	2603	Q8N3K9	CMYA5_HUMAN	T	2603	ENSP00000394770:A2603T	ENSP00000394770:A2603T	A	+	1	0	CMYA5	79068151	0.002000	0.14202	0.017000	0.16124	0.004000	0.04260	0.265000	0.18515	0.069000	0.16605	-0.376000	0.06991	GCA	CMYA5	-	NULL	ENSG00000164309		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	120	0.00	0	G	NM_153610		79032395	79032395	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	85	14.14	14	SNP	0.007	A
CPT1B	1375	genome.wustl.edu	37	22	51008742	51008742	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr22:51008742C>T	ENST00000360719.2	-	17	2259	c.2122G>A	c.(2122-2124)Gct>Act	p.A708T	CPT1B_ENST00000395650.2_Missense_Mutation_p.A708T|CPT1B_ENST00000312108.7_Missense_Mutation_p.A708T|CPT1B_ENST00000440709.1_Missense_Mutation_p.A627T|CPT1B_ENST00000457250.1_Missense_Mutation_p.A674T|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.A503T|CPT1B_ENST00000405237.3_Missense_Mutation_p.A708T	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	708					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCACCTCCAGCGCCCAGGTGA	0.642																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	dbGAP											0													85.0	83.0	84.0					22																	51008742		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2122G>A	22.37:g.51008742C>T	ENSP00000353945:p.Ala708Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A708T	ENST00000360719.2	37	c.2122	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729728	0.48833	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.41	2.04	0.26737	.	0.107611	0.64402	D	0.000006	D	0.87629	0.6225	L	0.56280	1.765	0.80722	D	1	P;B;B;P	0.44521	0.837;0.299;0.025;0.489	P;B;B;B	0.45037	0.467;0.137;0.045;0.164	D	0.85303	0.1074	10	0.45353	T	0.12	-2.7197	14.7454	0.69488	0.0:0.5857:0.4143:0.0	.	627;674;503;708	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	T	708;708;708;674;627;503;708	ENSP00000385486:A708T;ENSP00000312189:A708T;ENSP00000353945:A708T;ENSP00000409342:A674T;ENSP00000414713:A627T;ENSP00000410966:A503T;ENSP00000379011:A708T	ENSP00000312189:A708T	A	-	1	0	CPT1B	49355608	0.231000	0.23751	0.089000	0.20774	0.842000	0.47809	0.788000	0.26872	0.223000	0.20920	0.561000	0.74099	GCT	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.642	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	66	0.00	0	C	NM_152246		51008742	51008742	-1	no_errors	ENST00000312108	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.801	T
AGO2	27161	genome.wustl.edu	37	8	141561427	141561427	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr8:141561427G>A	ENST00000220592.5	-	11	1490	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	AGO2_ENST00000519980.1_Missense_Mutation_p.R460C	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	460					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GTGCACTGGCGCTGGGGGGCG	0.642																																						dbGAP											0													60.0	64.0	63.0					8																	141561427		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1378C>T	8.37:g.141561427G>A	ENSP00000220592:p.Arg460Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R460C	ENST00000220592.5	37	c.1378	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601864	0.66445	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.06068	3.35;3.35	5.02	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.76574	2.34	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.54372	0.75;0.567	T	0.02668	-1.1126	10	0.87932	D	0	-8.4486	13.1271	0.59363	0.0:0.0:0.6596:0.3404	.	460;460	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	C	460	ENSP00000220592:R460C;ENSP00000430176:R460C	ENSP00000220592:R460C	R	-	1	0	EIF2C2	141630609	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.420000	0.52735	1.058000	0.40530	0.289000	0.19496	CGC	EIF2C2	-	NULL	ENSG00000123908		0.642	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	37	0.00	0	G			141561427	141561427	-1	no_errors	ENST00000220592	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	A
FAM179B	23116	genome.wustl.edu	37	14	45431733	45431733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr14:45431733C>T	ENST00000361577.3	+	1	323	c.109C>T	c.(109-111)Cga>Tga	p.R37*	FAM179B_ENST00000361462.2_Nonsense_Mutation_p.R37*|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Nonsense_Mutation_p.R37*|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	37										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CGATGATAGTCGAGTTGGGGG	0.617																																						dbGAP											0													35.0	34.0	34.0					14																	45431733		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.109C>T	14.37:g.45431733C>T	ENSP00000355045:p.Arg37*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R37*	ENST00000361577.3	37	c.109	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423276	0.62733	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.	.	.	4.88	4.0	0.46444	.	0.423542	0.17541	N	0.170524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.192	13.9022	0.63812	0.0:0.8447:0.1553:0.0	.	.	.	.	X	37	.	ENSP00000354917:R37X	R	+	1	2	FAM179B	44501483	0.995000	0.38212	0.139000	0.22197	0.217000	0.24651	1.916000	0.39986	0.659000	0.30945	-0.795000	0.03280	CGA	FAM179B	-	NULL	ENSG00000198718		0.617	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	48	0.00	0	C	XM_113781		45431733	45431733	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	nonsense	33	21.43	9	SNP	0.185	T
FAM20C	56975	genome.wustl.edu	37	7	299785	299785	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr7:299785G>C	ENST00000313766.5	+	10	1825	c.1594G>C	c.(1594-1596)Gac>Cac	p.D532H		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	532	Kinase domain.				dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCTGCGGGGGGACCAGGTGGC	0.677																																						dbGAP											0													18.0	26.0	23.0					7																	299785		692	1591	2283	-	-	-	SO:0001583	missense	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.1594G>C	7.37:g.299785G>C	ENSP00000322323:p.Asp532His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Missense_Mutation	SNP	pfam_DUF1193	p.D532H	ENST00000313766.5	37	c.1594	CCDS47522.1	7	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437998	0.62955	.	.	ENSG00000177706	ENST00000313766	D	0.88124	-2.34	5.39	5.39	0.77823	.	.	.	.	.	D	0.95089	0.8409	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95855	0.8878	9	0.87932	D	0	.	19.1527	0.93495	0.0:0.0:1.0:0.0	.	532	Q8IXL6	DMP4_HUMAN	H	532	ENSP00000322323:D532H	ENSP00000322323:D532H	D	+	1	0	FAM20C	.	1.000000	0.71417	0.507000	0.27676	0.298000	0.27526	8.625000	0.90965	2.522000	0.85027	0.549000	0.68633	GAC	FAM20C	-	pfam_DUF1193	ENSG00000177706		0.677	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2	13	0.00	0	G	NM_020223		299785	299785	+1	no_errors	ENST00000313766	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	C
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000461472.1_Splice_Site|GATA3_ENST00000379328.3_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	94	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	72	35.14	39	DEL	1.000:1.000	-
GNE	10020	genome.wustl.edu	37	9	36217480	36217480	+	Missense_Mutation	SNP	C	C	T	rs549097855		TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr9:36217480C>T	ENST00000539815.1	-	11	2091	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	GNE_ENST00000377902.5_Missense_Mutation_p.R684H|GNE_ENST00000447283.2_Missense_Mutation_p.R610H|GNE_ENST00000539208.1_Missense_Mutation_p.R574H|GNE_ENST00000396594.3_Missense_Mutation_p.R715H|GNE_ENST00000543356.2_Missense_Mutation_p.R679H			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	684	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GGCCTGCTGGCGAATGACGTC	0.557																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0													130.0	95.0	107.0					9																	36217480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2051G>A	9.37:g.36217480C>T	ENSP00000439155:p.Arg684His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.R715H	ENST00000539815.1	37	c.2144	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542194	0.45280	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99680	-4.93;-4.93;-4.93;-4.93;-6.38	5.67	5.67	0.87782	.	0.468781	0.25866	N	0.027793	D	0.98416	0.9473	L	0.35854	1.095	0.36654	D	0.87753	B;B;B;B;P	0.52692	0.0;0.0;0.0;0.0;0.955	B;B;B;B;B	0.35859	0.0;0.001;0.001;0.0;0.212	D	0.99967	1.1876	10	0.54805	T	0.06	-7.6798	17.2557	0.87056	0.0:1.0:0.0:0.0	.	574;643;715;684;610	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	H	684;715;679;684;656;574;610	ENSP00000367134:R684H;ENSP00000379839:R715H;ENSP00000439155:R684H;ENSP00000445117:R574H;ENSP00000414760:R610H	ENSP00000340770:R679H	R	-	2	0	GNE	36207480	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.912000	0.39946	2.681000	0.91329	0.561000	0.74099	CGC	GNE	-	NULL	ENSG00000159921		0.557	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	118	0.00	0	C	NM_005476		36217480	36217480	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	missense	111	16.54	22	SNP	1.000	T
GOLGB1	2804	genome.wustl.edu	37	3	121415242	121415242	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr3:121415242C>A	ENST00000340645.5	-	13	4238	c.4113G>T	c.(4111-4113)caG>caT	p.Q1371H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1376H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1371					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAATTTCTGCTGCAGGCTTT	0.403																																						dbGAP											0													156.0	162.0	160.0					3																	121415242		2203	4299	6502	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4113G>T	3.37:g.121415242C>A	ENSP00000341848:p.Gln1371His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q1371H	ENST00000340645.5	37	c.4113	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177899	0.21787	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24723	2.44;2.44;1.84	6.17	3.04	0.35103	.	0.401569	0.24044	N	0.042074	T	0.15305	0.0369	N	0.14661	0.345	0.22226	N	0.999277	P;P;P;P;P	0.38711	0.643;0.643;0.643;0.643;0.643	B;B;B;B;B	0.38056	0.264;0.179;0.179;0.179;0.179	T	0.09751	-1.0660	10	0.49607	T	0.09	.	10.7146	0.46005	0.0:0.758:0.0:0.242	.	1296;1335;1376;1376;1371	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	H	1371;1376;1335	ENSP00000341848:Q1371H;ENSP00000377275:Q1376H;ENSP00000418231:Q1335H	ENSP00000341848:Q1371H	Q	-	3	2	GOLGB1	122897932	0.433000	0.25562	0.903000	0.35520	0.965000	0.64279	1.091000	0.30915	0.947000	0.37659	0.655000	0.94253	CAG	GOLGB1	-	NULL	ENSG00000173230		0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	166	0.00	0	C	NM_004487		121415242	121415242	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	151	18.28	34	SNP	0.961	A
HS2ST1	9653	genome.wustl.edu	37	1	87549897	87549897	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr1:87549897A>G	ENST00000370550.5	+	3	747	c.384A>G	c.(382-384)atA>atG	p.I128M	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.I102M|HS2ST1_ENST00000356813.4_Missense_Mutation_p.I102M|HS2ST1_ENST00000370551.4_Missense_Mutation_p.I128M	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	128					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TAAAGAATATAACTTCCTGGA	0.318																																						dbGAP											0													99.0	98.0	98.0					1																	87549897		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.384A>G	1.37:g.87549897A>G	ENSP00000359581:p.Ile128Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.I128M	ENST00000370550.5	37	c.384	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539274	0.45176	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.83	4.69	0.59074	.	0.050410	0.85682	D	0.000000	T	0.71685	0.3369	M	0.71036	2.16	0.41095	D	0.985623	B;P	0.35575	0.134;0.51	B;B	0.37198	0.243;0.228	T	0.73908	-0.3834	10	0.56958	D	0.05	-20.8287	6.8943	0.24247	0.637:0.2863:0.0767:0.0	.	128;102	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	M	128;128;102;102	ENSP00000359582:I128M;ENSP00000359581:I128M;ENSP00000359579:I102M;ENSP00000349268:I102M	ENSP00000349268:I102M	I	+	3	3	HS2ST1	87322485	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.400000	0.34577	1.006000	0.39211	0.528000	0.53228	ATA	HS2ST1	-	pfam_Sulfotransferase	ENSG00000153936		0.318	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	190	0.52	1	A	NM_012262		87549897	87549897	+1	no_errors	ENST00000370550	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	1.000	G
LRBA	987	genome.wustl.edu	37	4	151223818	151223818	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr4:151223818T>C	ENST00000357115.3	-	54	8252	c.8009A>G	c.(8008-8010)tAt>tGt	p.Y2670C	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.Y2659C|LRBA_ENST00000535741.1_Missense_Mutation_p.Y2659C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2670						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCCATTCCAATACCACAGCAA	0.408																																						dbGAP											0													147.0	132.0	137.0					4																	151223818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8009A>G	4.37:g.151223818T>C	ENSP00000349629:p.Tyr2670Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.Y2670C	ENST00000357115.3	37	c.8009	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.78|18.78	3.697463|3.697463	0.68386|0.68386	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835;ENST00000508606|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.45276	.|0.9;1.05;0.9	5.78|5.78	5.78|5.78	0.91487|0.91487	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57330|0.57330	0.2046|0.2046	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.987;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.996;0.973;0.992	T|T	0.54788|0.54788	-0.8241|-0.8241	5|10	.|0.40728	.|T	.|0.16	.|.	16.1143|16.1143	0.81295|0.81295	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2670;2659;2659;565	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	V|C	1312;16|2659;2659;2670	.|ENSP00000446299:Y2659C;ENSP00000421552:Y2659C;ENSP00000349629:Y2670C	.|ENSP00000349629:Y2670C	I|Y	-|-	1|2	0|0	LRBA|LRBA	151443268|151443268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.040000|8.040000	0.89188|0.89188	2.198000|2.198000	0.70561|0.70561	0.477000|0.477000	0.44152|0.44152	ATT|TAT	LRBA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198589		0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	191	0.00	0	T			151223818	151223818	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	92	16.36	18	SNP	1.000	C
PCDHA12	56137	genome.wustl.edu	37	5	140256806	140256806	+	Silent	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr5:140256806G>A	ENST00000398631.2	+	1	1749	c.1749G>A	c.(1747-1749)cgG>cgA	p.R583R	PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	583	Cadherin 6. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTACCGCGGTCGGTGGGTG	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													221.0	209.0	213.0					5																	140256806		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1749G>A	5.37:g.140256806G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R583	ENST00000398631.2	37	c.1749	CCDS47285.1	5																																																																																			PCDHA12	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000251664		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	78	0.00	0	G	NM_018903		140256806	140256806	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	silent	114	19.72	28	SNP	0.000	A
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037843	10037843	+	RNA	SNP	C	C	T			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chrY:10037843C>T	ENST00000515896.1	+	0	80									RNA, 5.8S ribosomal pseudogene 6																		AATTGCAGGACACATTGATCA	0.512																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		15	0.00	0	C			10037843	10037843	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	25	21.88	7	SNP	1.000	T
ROBO1	6091	genome.wustl.edu	37	3	78719385	78719385	+	Missense_Mutation	SNP	C	C	G	rs376852736		TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr3:78719385C>G	ENST00000464233.1	-	11	1522	c.1409G>C	c.(1408-1410)gGc>gCc	p.G470A	ROBO1_ENST00000495273.1_Missense_Mutation_p.G434A|ROBO1_ENST00000436010.2_Missense_Mutation_p.G431A|ROBO1_ENST00000467549.1_Missense_Mutation_p.G434A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	470	Ig-like C2-type 5.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GACGAAAGTGCCATCCACGGC	0.512																																						dbGAP											0													43.0	43.0	43.0					3																	78719385		1963	4172	6135	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1409G>C	3.37:g.78719385C>G	ENSP00000420321:p.Gly470Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G470A	ENST00000464233.1	37	c.1409	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169176	0.57584	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;T	0.77620	1.05;1.05;1.05;1.05;-1.11	5.98	5.98	0.97165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	N	0.25789	0.76	0.80722	D	1	D;P;P;D;D;P	0.76494	0.999;0.681;0.89;0.978;0.957;0.63	D;P;P;D;P;P	0.87578	0.998;0.584;0.755;0.924;0.755;0.684	T	0.79654	-0.1713	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	434;434;470;434;434;431	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	A	431;434;470;434;434;470;3	ENSP00000406043:G431A;ENSP00000420321:G470A;ENSP00000420637:G434A;ENSP00000417992:G434A;ENSP00000418553:G3A	.	G	-	2	0	ROBO1	78802075	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	GGC	ROBO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000169855		0.512	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	46	0.00	0	C	NM_002941		78719385	78719385	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	1.000	G
SNTA1	6640	genome.wustl.edu	37	20	31996318	31996318	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr20:31996318C>A	ENST00000217381.2	-	8	1784	c.1513G>T	c.(1513-1515)Gcc>Tcc	p.A505S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	505	Calmodulin-binding. {ECO:0000250}.|SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GACTTCTAGGCCAACAGCCCG	0.612																																						dbGAP											0													62.0	58.0	60.0					20																	31996318		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1513G>T	20.37:g.31996318C>A	ENSP00000217381:p.Ala505Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.A505S	ENST00000217381.2	37	c.1513	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753111	0.49362	.	.	ENSG00000101400	ENST00000217381	T	0.61627	0.09	4.39	3.44	0.39384	.	0.068867	0.56097	D	0.000022	T	0.71651	0.3365	M	0.74258	2.255	0.44500	D	0.997443	P;D	0.76494	0.793;0.999	B;D	0.80764	0.211;0.994	T	0.72211	-0.4359	10	0.72032	D	0.01	-8.1757	8.7022	0.34332	0.0:0.8206:0.0:0.1794	.	430;505	B4DX40;Q13424	.;SNTA1_HUMAN	S	505	ENSP00000217381:A505S	ENSP00000217381:A505S	A	-	1	0	SNTA1	31459979	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	3.814000	0.55643	0.832000	0.34804	0.467000	0.42956	GCC	SNTA1	-	NULL	ENSG00000101400		0.612	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	109	0.00	0	C	NM_003098		31996318	31996318	-1	no_errors	ENST00000217381	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	A
SYT16	83851	genome.wustl.edu	37	14	62536500	62536500	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr14:62536500G>A	ENST00000430451.2	+	2	900	c.703G>A	c.(703-705)Gga>Aga	p.G235R	SYT16_ENST00000446982.2_Missense_Mutation_p.G235R|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	235					exocytosis (GO:0006887)			p.G235R(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTTGACACACGGAGAAGATGG	0.488																																						dbGAP											2	Substitution - Missense(2)	lung(2)											112.0	113.0	113.0					14																	62536500		1985	4162	6147	-	-	-	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.703G>A	14.37:g.62536500G>A	ENSP00000394700:p.Gly235Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	NULL	p.G235R	ENST00000430451.2	37	c.703	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843779	0.32606	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.29917	1.55;3.82	5.4	-2.13	0.07144	.	0.343614	0.29126	N	0.013075	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.08055	0.0;0.003	T	0.10917	-1.0609	10	0.59425	D	0.04	-1.4057	6.7926	0.23707	0.302:0.31:0.388:0.0	.	235;235	B4DZH2;Q17RD7	.;SYT16_HUMAN	R	235	ENSP00000388023:G235R;ENSP00000394700:G235R	ENSP00000394700:G235R	G	+	1	0	SYT16	61606253	0.879000	0.30193	0.001000	0.08648	0.001000	0.01503	1.202000	0.32271	-0.636000	0.05524	-0.878000	0.02970	GGA	SYT16	-	NULL	ENSG00000139973		0.488	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	133	0.00	0	G	NM_031914		62536500	62536500	+1	no_errors	ENST00000446982	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.023	A
SYT5	6861	genome.wustl.edu	37	19	55690340	55690340	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr19:55690340G>A	ENST00000354308.3	-	2	439	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	SYT5_ENST00000537500.1_Missense_Mutation_p.H24Y|SYT5_ENST00000590851.1_Silent_p.A78A|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	24				H -> R (in Ref. 2; BAG54160). {ECO:0000305}.	calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTGGGCCGTGGCTGATGCGA	0.692																																						dbGAP											0													13.0	19.0	17.0					19																	55690340		2199	4291	6490	-	-	-	SO:0001583	missense	0			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.70C>T	19.37:g.55690340G>A	ENSP00000346265:p.His24Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.H24Y	ENST00000354308.3	37	c.70	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005107	0.19199	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.52983	0.64;0.64	3.54	3.54	0.40534	.	0.366632	0.27147	N	0.020701	T	0.31104	0.0786	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.22003	0.063;0.005	B;B	0.13407	0.009;0.002	T	0.25328	-1.0135	10	0.52906	T	0.07	.	10.9579	0.47368	0.0:0.0:1.0:0.0	.	24;24	Q4FD32;O00445	.;SYT5_HUMAN	Y	24	ENSP00000442896:H24Y;ENSP00000346265:H24Y	ENSP00000346265:H24Y	H	-	1	0	SYT5	60382152	0.210000	0.23517	0.509000	0.27700	0.270000	0.26580	2.025000	0.41059	2.287000	0.76781	0.558000	0.71614	CAC	SYT5	-	NULL	ENSG00000129990		0.692	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	43	0.00	0	G	NM_003180		55690340	55690340	-1	no_errors	ENST00000354308	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.568	A
TMEM132D	121256	genome.wustl.edu	37	12	129569107	129569107	+	Silent	SNP	G	G	A	rs565021234		TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr12:129569107G>A	ENST00000422113.2	-	6	1910	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	TMEM132D_ENST00000389441.4_Silent_p.I66I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	528					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I528I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGAGACCTCGATCTGCAGCG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18962	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											94.0	70.0	78.0					12																	129569107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1584C>T	12.37:g.129569107G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.I528	ENST00000422113.2	37	c.1584	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.582	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	79	0.00	0	G	NM_133448		129569107	129569107	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	silent	73	17.05	15	SNP	0.004	A
TTK	7272	genome.wustl.edu	37	6	80746264	80746264	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr6:80746264G>A	ENST00000369798.2	+	17	2108	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	TTK_ENST00000230510.3_Missense_Mutation_p.G665E|TTK_ENST00000509894.1_Missense_Mutation_p.G665E	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTGATTTTGGGATTGCAAAC	0.323																																						dbGAP											0													146.0	141.0	142.0					6																	80746264		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1997G>A	6.37:g.80746264G>A	ENSP00000358813:p.Gly666Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G666E	ENST00000369798.2	37	c.1997	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021590	0.93462	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89196	-2.48;-2.48;-2.48	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96722	0.8930	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97202	0.9865	10	0.87932	D	0	-16.2953	19.6603	0.95864	0.0:0.0:1.0:0.0	.	666;665	P33981;A8K8U5	TTK_HUMAN;.	E	665;665;666	ENSP00000422936:G665E;ENSP00000230510:G665E;ENSP00000358813:G666E	ENSP00000230510:G665E	G	+	2	0	TTK	80802983	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	GGG	TTK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112742		0.323	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	337	0.00	0	G			80746264	80746264	+1	no_errors	ENST00000369798	ensembl	human	known	69_37n	missense	178	15.64	33	SNP	1.000	A
TUBA1C	84790	genome.wustl.edu	37	12	49666122	49666122	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr12:49666122G>T	ENST00000301072.6	+	4	737	c.462G>T	c.(460-462)atG>atT	p.M154I	TUBA1C_ENST00000541364.1_Missense_Mutation_p.M224I|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	154					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CGCTGCTCATGGAACGTCTCT	0.522																																						dbGAP											0													46.0	48.0	47.0					12																	49666122		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.462G>T	12.37:g.49666122G>T	ENSP00000301072:p.Met154Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.M154I	ENST00000301072.6	37	c.462	CCDS8782.1	12	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041580	0.35989	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	T;T	0.68765	-0.35;-0.35	4.64	4.64	0.57946	Tubulin/FtsZ, GTPase domain (4);	0.111505	0.56097	D	0.000035	T	0.68081	0.2962	L	0.55213	1.73	0.80722	D	1	B;B	0.18610	0.029;0.004	B;B	0.33196	0.159;0.028	T	0.69269	-0.5189	10	0.87932	D	0	.	17.2212	0.86958	0.0:0.0:1.0:0.0	.	224;154	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	I	224;154	ENSP00000443475:M224I;ENSP00000301072:M154I	ENSP00000301072:M154I	M	+	3	0	TUBA1C	47952389	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.560000	0.98139	2.515000	0.84797	0.556000	0.70494	ATG	TUBA1C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000167553		0.522	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	206	0.48	1	G	NM_032704		49666122	49666122	+1	no_errors	ENST00000301072	ensembl	human	known	69_37n	missense	139	18.24	31	SNP	1.000	T
VWA3A	146177	genome.wustl.edu	37	16	22143005	22143005	+	Silent	SNP	G	G	A			TCGA-A2-A0CV-01A-31D-A10Y-09	TCGA-A2-A0CV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5d1dead5-d9a5-42d3-a703-4c38ad6e8f57	7d4e8176-424e-41d9-ba1c-48feff2d2350	g.chr16:22143005G>A	ENST00000389398.5	+	19	1923	c.1827G>A	c.(1825-1827)tcG>tcA	p.S609S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	609	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AACACCAATCGCAGGGAATCT	0.592																																						dbGAP											0													62.0	66.0	65.0					16																	22143005		1960	4154	6114	-	-	-	SO:0001819	synonymous_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1827G>A	16.37:g.22143005G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	NULL	p.A219T	ENST00000389398.5	37	c.655	CCDS45441.1	16																																																																																			VWA3A	-	NULL	ENSG00000175267		0.592	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	55	0.00	0	G			22143005	22143005	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000299840	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	0.030	A
