#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
ABAT	18	genome.wustl.edu	37	16	8862091	8862091	+	Silent	SNP	C	C	T	rs1139522		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr16:8862091C>T	ENST00000396600.2	+	10	1583	c.645C>T	c.(643-645)ggC>ggT	p.G215G	ABAT_ENST00000567812.1_Silent_p.G230G|ABAT_ENST00000569156.1_Silent_p.G215G|ABAT_ENST00000425191.2_Silent_p.G215G|ABAT_ENST00000268251.8_Silent_p.G215G	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	215					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCTTCATGGGCGCGTTCCATG	0.502																																						dbGAP											0													98.0	92.0	94.0					16																	8862091		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.645C>T	16.37:g.8862091C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.G215	ENST00000396600.2	37	c.645	CCDS10534.1	16																																																																																			ABAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	ENSG00000183044		0.502	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	83	0.00	0	C	NM_020686		8862091	8862091	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	silent	126	40.28	85	SNP	0.975	T
ABCB11	8647	genome.wustl.edu	37	2	169826581	169826581	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr2:169826581C>A	ENST00000263817.6	-	15	1907	c.1783G>T	c.(1783-1785)Gcc>Tcc	p.A595S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCACCATGGCTTCACTCTCA	0.498																																						dbGAP											0													183.0	179.0	180.0					2																	169826581		1968	4171	6139	-	-	-	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1783G>T	2.37:g.169826581C>A	ENSP00000263817:p.Ala595Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	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.A595S	ENST00000263817.6	37	c.1783	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573296	0.65765	.	.	ENSG00000073734	ENST00000263817	D	0.85258	-1.96	5.2	4.3	0.51218	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	L	0.28649	0.875	0.80722	D	1	D;D	0.67145	0.996;0.988	D;D	0.85130	0.997;0.951	D	0.84852	0.0814	10	0.27082	T	0.32	.	14.8982	0.70659	0.1447:0.8553:0.0:0.0	.	37;595	B4DZQ8;O95342	.;ABCBB_HUMAN	S	595	ENSP00000263817:A595S	ENSP00000263817:A595S	A	-	1	0	ABCB11	169534827	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	4.082000	0.57635	1.130000	0.42092	0.585000	0.79938	GCC	ABCB11	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000073734		0.498	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	139	0.00	0	C	NM_003742		169826581	169826581	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	missense	283	12.38	40	SNP	1.000	A
ACTR8	93973	genome.wustl.edu	37	3	53908256	53908256	+	Silent	SNP	A	A	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr3:53908256A>C	ENST00000335754.3	-	8	1147	c.1047T>G	c.(1045-1047)acT>acG	p.T349T	ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Silent_p.T238T	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	349					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AATGACAAAAAGTTTCTTTAA	0.328																																						dbGAP											0													52.0	52.0	52.0					3																	53908256		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1047T>G	3.37:g.53908256A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSW7|Q8N566|Q9H663	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.T349	ENST00000335754.3	37	c.1047	CCDS2875.1	3																																																																																			ACTR8	-	pfam_Actin-like,smart_Actin-like	ENSG00000113812		0.328	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	74	0.00	0	A	NM_022899		53908256	53908256	-1	no_errors	ENST00000335754	ensembl	human	known	69_37n	silent	82	18.00	18	SNP	0.645	C
AHNAK2	113146	genome.wustl.edu	37	14	105417688	105417688	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr14:105417688A>G	ENST00000333244.5	-	7	4219	c.4100T>C	c.(4099-4101)aTg>aCg	p.M1367T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1367						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)				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)			GTCCCCCTGCATGGAGGGGAG	0.632																																						dbGAP											0													102.0	77.0	86.0					14																	105417688		1845	3128	4973	-	-	-	SO:0001583	missense	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.4100T>C	14.37:g.105417688A>G	ENSP00000353114:p.Met1367Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M1367T	ENST00000333244.5	37	c.4100	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	6.607	0.480437	0.12581	.	.	ENSG00000185567	ENST00000333244	T	0.00922	5.54	4.18	1.6	0.23607	.	.	.	.	.	T	0.01387	0.0045	M	0.67953	2.075	0.09310	N	1	B	0.22683	0.073	B	0.24006	0.05	T	0.43972	-0.9358	9	0.38643	T	0.18	.	4.6702	0.12685	0.7018:0.1907:0.1074:0.0	.	1367	Q8IVF2	AHNK2_HUMAN	T	1367	ENSP00000353114:M1367T	ENSP00000353114:M1367T	M	-	2	0	AHNAK2	104488733	0.031000	0.19500	0.001000	0.08648	0.061000	0.15899	-0.422000	0.07043	0.028000	0.15324	0.397000	0.26171	ATG	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	146	0.00	0	A	NM_138420		105417688	105417688	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	179	14.29	30	SNP	0.001	G
APOH	350	genome.wustl.edu	37	17	64219815	64219815	+	Splice_Site	SNP	C	C	T	rs113148457		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr17:64219815C>T	ENST00000205948.6	-	4	453		c.e4+1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CACAGACTTACGAGCACAGAC	0.468																																					Melanoma(155;624 1882 16869 48804 51309)	dbGAP											0													99.0	96.0	97.0					17																	64219815		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.415+1G>A	17.37:g.64219815C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9M3|Q9UCN7	Splice_Site	SNP	-	e4+1	ENST00000205948.6	37	c.415+1	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440510	0.43326	.	.	ENSG00000091583	ENST00000205948	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7335	0.62804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOH	61650277	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.914000	0.56401	2.691000	0.91804	0.655000	0.94253	.	APOH	-	-	ENSG00000091583		0.468	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	51	0.00	0	C	NM_000042	Intron	64219815	64219815	-1	no_errors	ENST00000205948	ensembl	human	known	69_37n	splice_site	103	45.55	87	SNP	1.000	T
ARPC1B	10095	genome.wustl.edu	37	7	98988555	98988555	+	Silent	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr7:98988555G>A	ENST00000451682.1	+	8	849	c.540G>A	c.(538-540)ccG>ccA	p.P180P	PDAP1_ENST00000496335.1_5'Flank|ARPC1B_ENST00000252725.5_Silent_p.P180P			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	180					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAACGGCCGGCACCCACCC	0.577																																						dbGAP											0													48.0	48.0	48.0					7																	98988555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.540G>A	7.37:g.98988555G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU00	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P180	ENST00000451682.1	37	c.540	CCDS5661.1	7																																																																																			ARPC1B	-	superfamily_WD40_repeat_dom,pirsf_ARPC2/3_su1	ENSG00000130429		0.577	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC1B	HGNC	protein_coding	OTTHUMT00000335894.1	12	0.00	0	G	NM_005720		98988555	98988555	+1	no_errors	ENST00000252725	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	0.033	A
ATP6V0A2	23545	genome.wustl.edu	37	12	124241429	124241429	+	Silent	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr12:124241429C>T	ENST00000330342.3	+	19	2609	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V	ATP6V0A2_ENST00000544833.1_Silent_p.V69V|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	787					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCTATGGCGTCTTGCTACTGC	0.552																																						dbGAP											0													229.0	176.0	194.0					12																	124241429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2361C>T	12.37:g.124241429C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K026|Q6NUM0	Silent	SNP	pfam_ATPase_V0/A0_a	p.V787	ENST00000330342.3	37	c.2361	CCDS9254.1	12																																																																																			ATP6V0A2	-	pfam_ATPase_V0/A0_a	ENSG00000185344		0.552	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	108	0.00	0	C	NM_012463		124241429	124241429	+1	no_errors	ENST00000330342	ensembl	human	known	69_37n	silent	186	39.81	123	SNP	0.945	T
AWAT1	158833	genome.wustl.edu	37	X	69456923	69456923	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chrX:69456923G>C	ENST00000374521.3	+	4	326	c.285G>C	c.(283-285)gaG>gaC	p.E95D	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	95					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TATCACCTGAGCACAACTACC	0.537																																						dbGAP											0													74.0	46.0	55.0					X																	69456923		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.285G>C	X.37:g.69456923G>C	ENSP00000363645:p.Glu95Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.E95D	ENST00000374521.3	37	c.285	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	G	9.691	1.151871	0.21371	.	.	ENSG00000204195	ENST00000374521	T	0.13307	2.6	4.63	3.76	0.43208	.	0.620679	0.15394	N	0.264643	T	0.04907	0.0132	N	0.03304	-0.355	0.24686	N	0.993334	B	0.22541	0.071	B	0.25614	0.062	T	0.43048	-0.9415	10	0.07644	T	0.81	-1.4522	5.8092	0.18457	0.1123:0.3254:0.5623:0.0	.	95	Q58HT5	AWAT1_HUMAN	D	95	ENSP00000363645:E95D	ENSP00000363645:E95D	E	+	3	2	AWAT1	69373648	0.010000	0.17322	0.908000	0.35775	0.980000	0.70556	0.124000	0.15728	0.943000	0.37553	0.449000	0.29647	GAG	AWAT1	-	pfam_DAGAT	ENSG00000204195		0.537	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	47	0.00	0	G	NM_001013579		69456923	69456923	+1	no_errors	ENST00000374521	ensembl	human	known	69_37n	missense	50	39.02	32	SNP	0.881	C
C16orf96	342346	genome.wustl.edu	37	16	4626490	4626490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr16:4626490delC	ENST00000444310.4	+	5	2009	c.2009delC	c.(2008-2010)accfs	p.T670fs		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						ATGGTGGCTACCAAGCAGGCC	0.537																																						dbGAP											0													38.0	38.0	38.0					16																	4626490		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2009delC	16.37:g.4626490delC	ENSP00000415027:p.Thr670fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.K671fs	ENST00000444310.4	37	c.2009	CCDS53986.1	16																																																																																			C16orf96	-	NULL	ENSG00000205832		0.537	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	36	0.00	0	C	NM_001145011		4626490	4626490	+1	no_errors	ENST00000444310	ensembl	human	known	69_37n	frame_shift_del	53	32.05	25	DEL	0.006	-
CCDC174	51244	genome.wustl.edu	37	3	14708387	14708387	+	Silent	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr3:14708387G>A	ENST00000383794.3	+	7	730	c.657G>A	c.(655-657)gaG>gaA	p.E219E	CCDC174_ENST00000303688.7_Silent_p.E219E	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	219	Poly-Glu.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCAATGGGAGGAAGAAGAAA	0.413																																						dbGAP											0													86.0	101.0	96.0					3																	14708387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.657G>A	3.37:g.14708387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CS5	Silent	SNP	NULL	p.E219	ENST00000383794.3	37	c.657	CCDS2620.2	3																																																																																			C3orf19	-	NULL	ENSG00000154781		0.413	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf19	HGNC	protein_coding	OTTHUMT00000252077.2	116	0.00	0	G	NM_016474		14708387	14708387	+1	no_errors	ENST00000383794	ensembl	human	known	69_37n	silent	68	20.00	17	SNP	0.958	A
CACNA1B	774	genome.wustl.edu	37	9	140901245	140901245	+	Silent	SNP	A	A	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr9:140901245A>T	ENST00000371372.1	+	16	2146	c.2001A>T	c.(1999-2001)gcA>gcT	p.A667A	CACNA1B_ENST00000277551.2_Silent_p.A667A|CACNA1B_ENST00000371357.1_Silent_p.A668A|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.A667A|CACNA1B_ENST00000371355.4_Silent_p.A668A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	667					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTGGAATGCAGTGATGTATC	0.562																																						dbGAP											0													123.0	125.0	124.0					9																	140901245		2152	4247	6399	-	-	-	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2001A>T	9.37:g.140901245A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.A668	ENST00000371372.1	37	c.2004	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1	ENSG00000148408		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	71	0.00	0	A	NM_000718		140901245	140901245	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	silent	190	10.38	22	SNP	0.069	T
CDH12	1010	genome.wustl.edu	37	5	21752184	21752184	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr5:21752184C>A	ENST00000382254.1	-	15	3133	c.2047G>T	c.(2047-2049)Gtg>Ttg	p.V683L	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V683L|CDH12_ENST00000522262.1_Missense_Mutation_p.V643L|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	683					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCTCAATCACTTTTGGGTTT	0.453										HNSCC(59;0.17)																												dbGAP											0													158.0	137.0	144.0					5																	21752184		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2047G>T	5.37:g.21752184C>A	ENSP00000371689:p.Val683Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V683L	ENST00000382254.1	37	c.2047	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237908	0.58886	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76316	-1.01;-1.01;-1.01	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.175428	0.49305	D	0.000143	T	0.78071	0.4226	L	0.55481	1.735	0.48087	D	0.999584	B;B	0.19583	0.033;0.037	B;B	0.30943	0.061;0.122	T	0.74705	-0.3575	10	0.51188	T	0.08	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	643;683	B7Z2U6;P55289	.;CAD12_HUMAN	L	683;683;643	ENSP00000423577:V683L;ENSP00000371689:V683L;ENSP00000428786:V643L	ENSP00000371689:V683L	V	-	1	0	CDH12	21787941	1.000000	0.71417	0.970000	0.41538	0.928000	0.56348	7.487000	0.81328	2.477000	0.83638	0.467000	0.42956	GTG	CDH12	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000154162		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	322	0.00	0	C	NM_004061		21752184	21752184	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	338	12.89	50	SNP	1.000	A
CDK19	23097	genome.wustl.edu	37	6	110942402	110942402	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:110942402C>G	ENST00000368911.3	-	12	1461	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	CDK19_ENST00000323817.3_Missense_Mutation_p.D368H|CDK19_ENST00000413605.2_Missense_Mutation_p.D304H	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	428							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						AGGCTGGAGTCCTGGCTGTGC	0.657																																						dbGAP											0													64.0	65.0	65.0					6																	110942402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1282G>C	6.37:g.110942402C>G	ENSP00000357907:p.Asp428His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	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.D428H	ENST00000368911.3	37	c.1282	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847688	0.91277	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.26810	1.71;1.71;1.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.85130	0.87;0.997	T	0.01545	-1.1328	10	0.41790	T	0.15	-35.6545	20.6593	0.99626	0.0:1.0:0.0:0.0	.	304;428	B4DUB1;Q9BWU1	.;CDK19_HUMAN	H	428;368;367;304	ENSP00000357907:D428H;ENSP00000317665:D368H;ENSP00000410604:D304H	ENSP00000317665:D368H	D	-	1	0	CDK19	111049095	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.683000	0.68189	2.885000	0.99019	0.655000	0.94253	GAC	CDK19	-	NULL	ENSG00000155111		0.657	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	22	0.00	0	C	NM_015076		110942402	110942402	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	1.000	G
CYP4F11	57834	genome.wustl.edu	37	19	16035659	16035659	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr19:16035659C>T	ENST00000402119.4	-	5	985	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.A187T|CYP4F11_ENST00000248041.8_Missense_Mutation_p.A187T|CYP4F11_ENST00000591841.1_Intron	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.A187T(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCAGTCTGGCGCTGCCCTCT	0.537																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001583	missense	0			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.559G>A	19.37:g.16035659C>T	ENSP00000384588:p.Ala187Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.A187T	ENST00000402119.4	37	c.559	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	4.604	0.112161	0.08831	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68181	-0.31;-0.31;0.21	2.57	-5.13	0.02884	.	0.526369	0.17303	U	0.179188	T	0.35998	0.0951	N	0.12887	0.27	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.40572	-0.9556	10	0.02654	T	1	.	10.4133	0.44307	0.0:0.7419:0.0:0.2581	.	187;187	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	187	ENSP00000384588:A187T;ENSP00000248041:A187T;ENSP00000319859:A187T	ENSP00000248041:A187T	A	-	1	0	CYP4F11	15896659	0.000000	0.05858	0.002000	0.10522	0.875000	0.50365	-2.881000	0.00715	-1.411000	0.02032	-0.708000	0.03648	GCC	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171903		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	70	0.00	0	C	NM_021187		16035659	16035659	-1	no_errors	ENST00000248041	ensembl	human	known	69_37n	missense	81	51.79	87	SNP	0.000	T
DEPDC4	120863	genome.wustl.edu	37	12	100660730	100660730	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr12:100660730C>G	ENST00000416321.1	-	1	127	c.125G>C	c.(124-126)cGt>cCt	p.R42P	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	42					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GCCATCTCTACGGTTCCTGGA	0.582																																						dbGAP											0													111.0	111.0	111.0					12																	100660730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.125G>C	12.37:g.100660730C>G	ENSP00000396234:p.Arg42Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R42P	ENST00000416321.1	37	c.125	CCDS9075.1	12	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073948	0.36566	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.30981	1.51;1.51;1.53;1.52	5.16	-1.3	0.09259	.	0.663319	0.13931	N	0.352875	T	0.11367	0.0277	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.21586	-1.0241	10	0.34782	T	0.22	.	6.527	0.22307	0.0801:0.5308:0.2625:0.1267	.	42;42;42	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	P	42;42;42;42;42;35	ENSP00000396234:R42P;ENSP00000448385:R42P;ENSP00000448338:R42P;ENSP00000449590:R35P	ENSP00000299185:R42P	R	-	2	0	DEPDC4	99184861	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.206000	0.03011	-0.451000	0.07097	-0.165000	0.13383	CGT	DEPDC4	-	NULL	ENSG00000166153		0.582	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	14	0.00	0	C	NM_152317		100660730	100660730	-1	no_errors	ENST00000378244	ensembl	human	known	69_37n	missense	55	22.54	16	SNP	0.000	G
DPPA2	151871	genome.wustl.edu	37	3	109027096	109027096	+	Silent	SNP	C	C	G	rs188432946	byFrequency	TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr3:109027096C>G	ENST00000478945.1	-	6	687	c.441G>C	c.(439-441)tcG>tcC	p.S147S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	147					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCGTTTCCTCGAACATCGCT	0.433																																						dbGAP											0													153.0	130.0	138.0					3																	109027096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.441G>C	3.37:g.109027096C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVF0	Silent	SNP	pfscan_SAP_DNA-bd	p.S147	ENST00000478945.1	37	c.441	CCDS2956.1	3																																																																																			DPPA2	-	NULL	ENSG00000163530		0.433	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	HGNC	protein_coding	OTTHUMT00000353938.1	194	0.00	0	C	NM_138815		109027096	109027096	-1	no_errors	ENST00000478945	ensembl	human	known	69_37n	silent	320	22.33	92	SNP	0.000	G
PCDHA9	9752	genome.wustl.edu	37	5	140242970	140242970	+	Intron	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr5:140242970G>A	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|AC005609.1_ENST00000502505.1_Silent_p.H2H|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGAGCTCGTGCATGCCGG	0.592																																					Melanoma(55;1800 1972 14909)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12496G>A	5.37:g.140242970G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15053|Q2M3S5	Silent	SNP	NULL	p.H2	ENST00000532602.1	37	c.6	CCDS54920.1	5																																																																																			AC005609.1	-	NULL	ENSG00000249034		0.592	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249034	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372896.2	21	0.00	0	G	NM_031857		140242970	140242970	-1	no_errors	ENST00000502505	ensembl	human	known	69_37n	silent	11	45.00	9	SNP	0.000	A
ENTPD1	953	genome.wustl.edu	37	10	97602252	97602252	+	Splice_Site	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr10:97602252G>A	ENST00000371205.4	+	4	696		c.e4+1		ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000453258.2_Splice_Site|ENTPD1_ENST00000371207.3_Splice_Site|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_Splice_Site|ENTPD1_ENST00000543964.1_Splice_Site|RP11-429G19.3_ENST00000433113.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGTTGCTCAGGTATAGCAGCA	0.532																																						dbGAP											0													70.0	70.0	70.0					10																	97602252		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.413+1G>A	10.37:g.97602252G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Splice_Site	SNP	-	e4+1	ENST00000371205.4	37	c.449+1	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511492	0.85389	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000371205	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.395	0.83601	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENTPD1	97592242	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.862000	0.92283	2.733000	0.93635	0.591000	0.81541	.	ENTPD1	-	-	ENSG00000138185		0.532	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	19	0.00	0	G	NM_001776	Intron	97602252	97602252	+1	no_errors	ENST00000371207	ensembl	human	known	69_37n	splice_site	27	35.71	15	SNP	1.000	A
ETF1	2107	genome.wustl.edu	37	5	137844062	137844062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr5:137844062G>A	ENST00000360541.5	-	11	1467	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	ETF1_ENST00000503014.1_Nonsense_Mutation_p.R402*|ETF1_ENST00000499810.2_Nonsense_Mutation_p.R383*	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	416					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAATCTACTCGGTACCGCAAG	0.483																																						dbGAP											0													55.0	48.0	50.0					5																	137844062		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1246C>T	5.37:g.137844062G>A	ENSP00000353741:p.Arg416*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Nonsense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.R416*	ENST00000360541.5	37	c.1246	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.960726	0.97151	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.1932	15.2238	0.73333	0.0:0.0:0.8594:0.1406	.	.	.	.	X	383;416;402	.	ENSP00000353741:R416X	R	-	1	2	ETF1	137871961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.938000	0.70170	2.941000	0.99782	0.655000	0.94253	CGA	ETF1	-	pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1	ENSG00000120705		0.483	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	91	0.00	0	G	NM_004730		137844062	137844062	-1	no_errors	ENST00000360541	ensembl	human	known	69_37n	nonsense	105	14.63	18	SNP	1.000	A
FAM58A	92002	genome.wustl.edu	37	X	152860089	152860089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chrX:152860089C>T	ENST00000406277.2	-	5	441	c.339G>A	c.(337-339)tgG>tgA	p.W113*	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	115					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAGTTCCCAGAAGCGGG	0.562																																						dbGAP											0													67.0	61.0	63.0					X																	152860089		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.339G>A	X.37:g.152860089C>T	ENSP00000384396:p.Trp113*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I380|Q330J9|Q96IU5|Q9BUU1	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.W113*	ENST00000406277.2	37	c.339		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471876|4.471876	0.84533|0.84533	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000429336;ENST00000440428|ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173	.|.	.|.	.|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.52837|.	0.1759|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53365|.	-0.8449|.	3|.	.|0.11485	.|T	.|0.65	-17.9154|-17.9154	15.9834|15.9834	0.80130|0.80130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	37;18|81;113;81;113;113	.|.	.|ENSP00000276345:W113X	G|W	-|-	1|3	0|0	FAM58A|FAM58A	152513283|152513283	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.335000|0.335000	0.28730|0.28730	7.164000|7.164000	0.77533|0.77533	2.108000|2.108000	0.64289|0.64289	0.529000|0.529000	0.55759|0.55759	GGA|TGG	FAM58A	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000147382		0.562	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	FAM58A	HGNC	protein_coding		26	0.00	0	C	NM_152274		152860089	152860089	-1	no_errors	ENST00000406277	ensembl	human	known	69_37n	nonsense	71	16.47	14	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155290277	155290277	+	Silent	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr1:155290277G>A	ENST00000356657.6	+	11	1299	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Silent_p.V379V|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.V313V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	379					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGCCAGCAGTGTTCTTGCAAT	0.542																																						dbGAP											0													56.0	51.0	53.0					1																	155290277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1137G>A	1.37:g.155290277G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.V379	ENST00000356657.6	37	c.1137	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	39	0.00	0	G	NM_002004		155290277	155290277	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	silent	92	52.82	103	SNP	0.001	A
FGD5	152273	genome.wustl.edu	37	3	14862067	14862067	+	Missense_Mutation	SNP	G	G	A	rs200418068		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr3:14862067G>A	ENST00000285046.5	+	1	1599	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	FGD5_ENST00000543601.1_Missense_Mutation_p.V256I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	497					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCAGAAACCGTCCCTGAAGA	0.642																																						dbGAP											0													36.0	40.0	39.0					3																	14862067		1929	4122	6051	-	-	-	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1489G>A	3.37:g.14862067G>A	ENSP00000285046:p.Val497Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.V497I	ENST00000285046.5	37	c.1489	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528855	0.64860	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;T	0.82984	-1.67;-1.46	4.86	4.86	0.63082	.	0.000000	0.48286	D	0.000200	D	0.90820	0.7117	M	0.74881	2.28	0.47374	D	0.9994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.91912	0.5540	10	0.66056	D	0.02	-35.7727	18.0079	0.89214	0.0:0.0:1.0:0.0	.	256;497	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	497;256	ENSP00000285046:V497I;ENSP00000445949:V256I	ENSP00000285046:V497I	V	+	1	0	FGD5	14837071	1.000000	0.71417	0.134000	0.22075	0.035000	0.12851	9.280000	0.95786	2.254000	0.74563	0.650000	0.86243	GTC	FGD5	-	NULL	ENSG00000154783		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	11	0.00	0	G	NM_152536		14862067	14862067	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	13	66.67	26	SNP	1.000	A
FGFR1	2260	genome.wustl.edu	37	8	38275446	38275446	+	Silent	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr8:38275446G>A	ENST00000447712.2	-	11	2435	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	FGFR1_ENST00000326324.6_Silent_p.I407I|FGFR1_ENST00000335922.5_Silent_p.I488I|FGFR1_ENST00000397091.5_Silent_p.I496I|FGFR1_ENST00000397113.2_Silent_p.I496I|FGFR1_ENST00000397103.1_Silent_p.I409I|FGFR1_ENST00000532791.1_Silent_p.I496I|FGFR1_ENST00000356207.5_Silent_p.I409I|FGFR1_ENST00000397108.4_Silent_p.I496I|FGFR1_ENST00000425967.3_Silent_p.I529I|FGFR1_ENST00000341462.5_Silent_p.I498I	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTCCAGCCCGATAGCCTCTG	0.522		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													110.0	111.0	111.0					8																	38275446		2019	4189	6208	-	-	-	SO:0001819	synonymous_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1494C>T	8.37:g.38275446G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I529	ENST00000447712.2	37	c.1587	CCDS6107.2	8																																																																																			FGFR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom	ENSG00000077782		0.522	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		104	0.00	0	G			38275446	38275446	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	silent	104	46.15	90	SNP	0.060	A
FRMPD4	9758	genome.wustl.edu	37	X	12704307	12704307	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chrX:12704307G>T	ENST00000380682.1	+	7	1171	c.665G>T	c.(664-666)tGc>tTc	p.C222F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	222	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTTTTGACTGCAGCACTTCC	0.418																																						dbGAP											0													131.0	110.0	117.0					X																	12704307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.665G>T	X.37:g.12704307G>T	ENSP00000370057:p.Cys222Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.C222F	ENST00000380682.1	37	c.665	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405298	0.42715	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.74421	-0.84	5.33	3.52	0.40303	Band 4.1 domain (1);FERM domain (1);	0.338236	0.31071	N	0.008313	T	0.64605	0.2613	N	0.22421	0.69	0.37198	D	0.904245	P;B	0.37663	0.604;0.007	B;B	0.39590	0.304;0.003	T	0.68519	-0.5387	10	0.59425	D	0.04	.	14.9493	0.71060	0.0:0.2857:0.7143:0.0	.	214;222	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	F	222;213;211	ENSP00000370057:C222F	ENSP00000304583:C211F	C	+	2	0	FRMPD4	12614228	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.851000	0.48302	0.427000	0.26145	0.600000	0.82982	TGC	FRMPD4	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169933		0.418	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	201	0.00	0	G	XM_045712		12704307	12704307	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	208	13.69	33	SNP	1.000	T
FSD2	123722	genome.wustl.edu	37	15	83437686	83437686	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr15:83437686G>A	ENST00000334574.8	-	9	1680	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	FSD2_ENST00000541889.1_Missense_Mutation_p.S455L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	500	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CACAGTGTACGAGTCCACAGG	0.527																																						dbGAP											0													53.0	56.0	55.0					15																	83437686		2000	4195	6195	-	-	-	SO:0001583	missense	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1499C>T	15.37:g.83437686G>A	ENSP00000335651:p.Ser500Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVG1|B7ZM02	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S500L	ENST00000334574.8	37	c.1499	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.176297	0.94846	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.60424	0.6;0.19	5.46	5.46	0.80206	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.74881	2.28	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.981;0.998	T	0.79417	-0.1812	10	0.87932	D	0	-15.2344	18.291	0.90130	0.0:0.0:1.0:0.0	.	455;500	B7ZM02;A1L4K1	.;FSD2_HUMAN	L	500;455	ENSP00000335651:S500L;ENSP00000444078:S455L	ENSP00000335651:S500L	S	-	2	0	FSD2	81234740	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	9.116000	0.94341	2.575000	0.86900	0.561000	0.74099	TCG	FSD2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000186628		0.527	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	122	0.00	0	G	NM_001007122		83437686	83437686	-1	no_errors	ENST00000334574	ensembl	human	known	69_37n	missense	147	15.52	27	SNP	1.000	A
GALNT7	51809	genome.wustl.edu	37	4	174223291	174223291	+	Silent	SNP	T	T	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr4:174223291T>C	ENST00000265000.4	+	7	1325	c.1242T>C	c.(1240-1242)ggT>ggC	p.G414G		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	414	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTTGGGGTGGTGAAAACTTTG	0.408																																						dbGAP											0													181.0	190.0	187.0					4																	174223291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1242T>C	4.37:g.174223291T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V211A	ENST00000265000.4	37	c.632	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.37|10.37	1.331373|1.331373	0.24167|0.24167	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000458613|ENST00000505308	.|.	.|.	.|.	5.97|5.97	3.61|3.61	0.41365|0.41365	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58850	.|0.2151	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52472	.|-0.8571	.|4	.|.	.|.	.|.	.|.	8.9408|8.9408	0.35729|0.35729	0.0:0.1576:0.0:0.8424|0.0:0.1576:0.0:0.8424	.|.	.|.	.|.	.|.	.|A	-1|211	.|.	.|.	.|V	+|+	.|2	.|0	GALNT7|GALNT7	174459866|174459866	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.389000|0.389000	0.20751|0.20751	0.523000|0.523000	0.28482|0.28482	0.533000|0.533000	0.62120|0.62120	.|GTG	GALNT7	-	NULL	ENSG00000109586		0.408	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	319	0.00	0	T	NM_017423		174223291	174223291	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000505308	ensembl	human	novel	69_37n	missense	241	12.00	33	SNP	1.000	C
GLI3	2737	genome.wustl.edu	37	7	42005086	42005086	+	Silent	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr7:42005086G>A	ENST00000395925.3	-	15	3669	c.3585C>T	c.(3583-3585)aaC>aaT	p.N1195N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1195					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N1195N(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGACCATGCCGTTGCAGAACC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											1	Substitution - coding silent(1)	lung(1)											59.0	70.0	66.0					7																	42005086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3585C>T	7.37:g.42005086G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N1195	ENST00000395925.3	37	c.3585	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	17	0.00	0	G	NM_000168		42005086	42005086	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	silent	36	25.00	12	SNP	0.000	A
GRIA2	2891	genome.wustl.edu	37	4	158282695	158282695	+	Intron	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr4:158282695C>T	ENST00000264426.9	+	14	2685				GRIA2_ENST00000507898.1_Missense_Mutation_p.P719L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P719L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P719L|GRIA2_ENST00000296526.7_Missense_Mutation_p.P766L|AC079233.1_ENST00000578227.1_RNA	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGAAGAACCCCAGTAAATCTT	0.358																																						dbGAP											0													105.0	98.0	101.0					4																	158282695		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2406+419C>T	4.37:g.158282695C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P766L	ENST00000264426.9	37	c.2297	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623888	0.46840	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000449365	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.07	6.07	0.98685	.	0.163584	0.56097	D	0.000037	T	0.41026	0.1141	L	0.39397	1.21	0.80722	D	1	B;B;B	0.29253	0.143;0.239;0.027	B;B;B	0.37047	0.219;0.24;0.029	T	0.16217	-1.0410	10	0.52906	T	0.07	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	794;766;719	Q59F93;P42262-2;A8MT92	.;.;.	L	719;719;766;719	ENSP00000426845:P719L;ENSP00000377403:P719L;ENSP00000296526:P766L;ENSP00000389837:P719L	ENSP00000296526:P766L	P	+	2	0	GRIA2	158502145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCA	GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000120251		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	353	0.00	0	C			158282695	158282695	+1	no_errors	ENST00000296526	ensembl	human	known	69_37n	missense	192	13.12	29	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122598837	122598837	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chrX:122598837C>A	ENST00000371251.1	+	13	2250	c.2198C>A	c.(2197-2199)gCc>gAc	p.A733D	GRIA3_ENST00000264357.5_Missense_Mutation_p.A733D|GRIA3_ENST00000542149.1_Missense_Mutation_p.A733D|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Missense_Mutation_p.A733D			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	733					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGAAAGTTCGCCTTCCTGCTG	0.468																																						dbGAP											0													122.0	103.0	109.0					X																	122598837		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2198C>A	X.37:g.122598837C>A	ENSP00000360297:p.Ala733Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A733D	ENST00000371251.1	37	c.2198	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639731	0.67244	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.12	5.12	0.69794	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.88690	0.3208	10	0.87932	D	0	.	16.5308	0.84357	0.0:1.0:0.0:0.0	.	733;733	P42263;P42263-2	GRIA3_HUMAN;.	D	733	ENSP00000264357:A733D;ENSP00000446146:A733D;ENSP00000360302:A733D;ENSP00000360297:A733D	ENSP00000264357:A733D	A	+	2	0	GRIA3	122426518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.104000	0.64026	0.415000	0.27848	GCC	GRIA3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000125675		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	134	0.74	1	C	NM_000828		122598837	122598837	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	159	10.61	19	SNP	1.000	A
HDAC9	9734	genome.wustl.edu	37	7	18833076	18833076	+	Splice_Site	SNP	G	G	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr7:18833076G>T	ENST00000432645.2	+	16	2313		c.e16+1		HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGAGCTGAAGGTGAGGTCCGG	0.512																																						dbGAP											0													47.0	49.0	48.0					7																	18833076		2094	4221	6315	-	-	-	SO:0001630	splice_region_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2313+1G>T	7.37:g.18833076G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	-	e16+1	ENST00000432645.2	37	c.2322+1	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235070	0.58886	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4736	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC9	18799601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.609000	0.88269	0.655000	0.94253	.	HDAC9	-	-	ENSG00000048052		0.512	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	101	0.00	0	G		Intron	18833076	18833076	+1	no_errors	ENST00000441542	ensembl	human	known	69_37n	splice_site	199	12.33	28	SNP	1.000	T
HLA-DRB1	3123	genome.wustl.edu	37	6	32549362	32549362	+	Silent	SNP	G	G	A	rs199704140	byFrequency	TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:32549362G>A	ENST00000360004.5	-	3	729	c.624C>T	c.(622-624)agC>agT	p.S208S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	208	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGCTTGTCACGCTTGGGTGCT	0.532										Multiple Myeloma(14;0.17)			G|||	507	0.101238	0.0885	0.1427	5008	,	,		16004	0.0506		0.1531	False		,,,				2504	0.0879					dbGAP											0													125.0	112.0	117.0					6																	32549362		1504	2686	4190	-	-	-	SO:0001819	synonymous_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.624C>T	6.37:g.32549362G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P01914|Q9MYF5	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.S208	ENST00000360004.5	37	c.624	CCDS47409.1	6																																																																																			HLA-DRB1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000196126		0.532	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	14	0.00	0	G	NM_002124		32549362	32549362	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	0.270	A
INTS7	25896	genome.wustl.edu	37	1	212148707	212148707	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr1:212148707T>C	ENST00000366994.3	-	13	1720	c.1616A>G	c.(1615-1617)cAt>cGt	p.H539R	INTS7_ENST00000440600.2_Missense_Mutation_p.H490R|INTS7_ENST00000366992.3_Missense_Mutation_p.H539R|INTS7_ENST00000366993.3_Missense_Mutation_p.H539R|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	539					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCCATGTCATGATTACCCTA	0.373																																						dbGAP											0													80.0	88.0	85.0					1																	212148707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1616A>G	1.37:g.212148707T>C	ENSP00000355961:p.His539Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H539R	ENST00000366994.3	37	c.1616	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810237	0.70797	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.46978	-0.9152	10	0.18710	T	0.47	-26.5119	16.6093	0.84858	0.0:0.0:0.0:1.0	.	490;539;539;539	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	R	539;539;539;490	ENSP00000355961:H539R;ENSP00000355960:H539R;ENSP00000355959:H539R;ENSP00000388908:H490R	ENSP00000355959:H539R	H	-	2	0	INTS7	210215330	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.751000	0.85126	2.324000	0.78689	0.533000	0.62120	CAT	INTS7	-	superfamily_ARM-type_fold	ENSG00000143493		0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	102	0.00	0	T	NM_015434		212148707	212148707	-1	no_errors	ENST00000366994	ensembl	human	known	69_37n	missense	180	13.88	29	SNP	1.000	C
KERA	11081	genome.wustl.edu	37	12	91449597	91449597	+	Silent	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr12:91449597C>T	ENST00000266719.3	-	2	709	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	154					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAATTCTGGACACCTTATTTC	0.398																																						dbGAP											0													107.0	104.0	105.0					12																	91449597		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.462G>A	12.37:g.91449597C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.V154	ENST00000266719.3	37	c.462	CCDS9037.1	12																																																																																			KERA	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.398	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	175	0.00	0	C	NM_007035		91449597	91449597	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	silent	48	23.81	15	SNP	0.997	T
KLC4	89953	genome.wustl.edu	37	6	43029294	43029294	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:43029294C>T	ENST00000394056.2	+	3	716	c.221C>T	c.(220-222)tCt>tTt	p.S74F	MRPL2_ENST00000388752.3_5'Flank|KLC4_ENST00000259708.3_Missense_Mutation_p.S92F|MRPL2_ENST00000230413.5_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.S74F|KLC4_ENST00000458460.2_Missense_Mutation_p.S74F|MRPL2_ENST00000489623.1_5'Flank|KLC4_ENST00000479388.1_Missense_Mutation_p.S74F|KLC4_ENST00000453940.2_Missense_Mutation_p.S74F|MRPL2_ENST00000468957.1_5'Flank|MRPL2_ENST00000487429.1_5'Flank|KLC4_ENST00000347162.5_Missense_Mutation_p.S74F			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	74						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTTCGCCGTTCTATGGAAAAC	0.582																																						dbGAP											0													45.0	45.0	45.0					6																	43029294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.221C>T	6.37:g.43029294C>T	ENSP00000377620:p.Ser74Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.S92F	ENST00000394056.2	37	c.275	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.156506	0.94686	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000472792;ENST00000460283;ENST00000394056;ENST00000394058;ENST00000481888	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.97;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.11	5.11	0.69529	.	0.000000	0.52532	D	0.000077	T	0.59542	0.2201	M	0.71871	2.18	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.995;0.998	D;D;D;D	0.83275	0.996;0.994;0.986;0.991	T	0.64685	-0.6349	10	0.87932	D	0	-15.6417	18.538	0.91018	0.0:1.0:0.0:0.0	.	74;92;74;74	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	F	74;74;74;74;92;74;74;74;74;74;74	ENSP00000340221:S74F;ENSP00000395806:S74F;ENSP00000417652:S74F;ENSP00000410358:S74F;ENSP00000259708:S92F;ENSP00000418031:S74F;ENSP00000419102:S74F;ENSP00000420144:S74F;ENSP00000377620:S74F;ENSP00000377622:S74F;ENSP00000419634:S74F	ENSP00000259708:S92F	S	+	2	0	KLC4	43137272	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.784000	0.85713	2.392000	0.81423	0.561000	0.74099	TCT	KLC4	-	NULL	ENSG00000137171		0.582	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	HGNC	protein_coding	OTTHUMT00000040579.2	23	0.00	0	C	NM_138343		43029294	43029294	+1	no_errors	ENST00000259708	ensembl	human	known	69_37n	missense	106	61.73	171	SNP	1.000	T
LGSN	51557	genome.wustl.edu	37	6	63989962	63989962	+	Silent	SNP	A	A	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:63989962A>T	ENST00000370657.4	-	4	1527	c.1494T>A	c.(1492-1494)gcT>gcA	p.A498A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	498					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCTCTCTGCAGCTATTTCTT	0.338																																						dbGAP											0													62.0	68.0	66.0					6																	63989962		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1494T>A	6.37:g.63989962A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.A498	ENST00000370657.4	37	c.1494	CCDS4964.1	6																																																																																			LGSN	-	NULL	ENSG00000146166		0.338	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	159	0.00	0	A	NM_016571		63989962	63989962	-1	no_errors	ENST00000370657	ensembl	human	known	69_37n	silent	101	24.63	33	SNP	0.903	T
CEP162	22832	genome.wustl.edu	37	6	84904772	84904772	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:84904772C>T	ENST00000403245.3	-	10	971	c.857G>A	c.(856-858)aGt>aAt	p.S286N	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S210N|KIAA1009_ENST00000461137.1_5'Flank	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACGTCACTACTGCTTTGTCC	0.343																																						dbGAP											0													128.0	103.0	111.0					6																	84904772		2202	4299	6501	-	-	-	SO:0001583	missense	0																														ENST00000403245.3:c.857G>A	6.37:g.84904772C>T	ENSP00000385215:p.Ser286Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S286N	ENST00000403245.3	37	c.857	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.800599	0.00611	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.15718	2.4;2.4	5.08	-3.53	0.04667	.	0.366803	0.26143	N	0.026097	T	0.00815	0.0027	N	0.00707	-1.245	0.23487	N	0.997574	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.28554	-1.0040	10	0.02654	T	1	-4.0607	10.713	0.45995	0.0:0.4137:0.0:0.5863	.	286;286	Q5TB80;C9JFM9	QN1_HUMAN;.	N	210;286	ENSP00000257766:S210N;ENSP00000385215:S286N	ENSP00000257766:S210N	S	-	2	0	KIAA1009	84961491	0.884000	0.30299	0.867000	0.34043	0.036000	0.12997	0.099000	0.15210	-0.842000	0.04195	-1.028000	0.02416	AGT	KIAA1009	-	NULL	ENSG00000135315		0.343	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	324	0.00	0	C			84904772	84904772	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	missense	258	16.99	53	SNP	0.971	T
LRRC7	57554	genome.wustl.edu	37	1	70446130	70446130	+	Silent	SNP	A	A	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr1:70446130A>G	ENST00000035383.5	+	7	696	c.666A>G	c.(664-666)ttA>ttG	p.L222L	LRRC7_ENST00000310961.5_Silent_p.L227L|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	222						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACAAGTGTTACCTGGGGTAT	0.348																																						dbGAP											0													181.0	184.0	183.0					1																	70446130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.666A>G	1.37:g.70446130A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L222	ENST00000035383.5	37	c.666	CCDS645.1	1																																																																																			LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.348	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	436	0.00	0	A	NM_020794		70446130	70446130	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	silent	326	11.56	43	SNP	0.996	G
LRRC40	55631	genome.wustl.edu	37	1	70641557	70641557	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr1:70641557G>A	ENST00000370952.3	-	7	992	c.913C>T	c.(913-915)Cca>Tca	p.P305S		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	305						membrane (GO:0016020)		p.P305S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATTTCATCTGGAACAGATTTT	0.338																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											99.0	98.0	98.0					1																	70641557		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.913C>T	1.37:g.70641557G>A	ENSP00000359990:p.Pro305Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P305S	ENST00000370952.3	37	c.913	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731366	0.89390	.	.	ENSG00000066557	ENST00000370952	T	0.28069	1.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.72032	D	0.01	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	305	Q9H9A6	LRC40_HUMAN	S	305	ENSP00000359990:P305S	ENSP00000359990:P305S	P	-	1	0	LRRC40	70414145	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.048000	0.93830	2.567000	0.86603	0.585000	0.79938	CCA	LRRC40	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000066557		0.338	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	180	0.00	0	G	NM_017768		70641557	70641557	-1	no_errors	ENST00000370952	ensembl	human	known	69_37n	missense	208	12.97	31	SNP	1.000	A
MEP1A	4224	genome.wustl.edu	37	6	46787380	46787380	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:46787380C>A	ENST00000230588.4	+	7	504	c.495C>A	c.(493-495)caC>caA	p.H165Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	165	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GATTTTACCACGAGCAGTCAA	0.473																																						dbGAP											0													271.0	249.0	256.0					6																	46787380		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.495C>A	6.37:g.46787380C>A	ENSP00000230588:p.His165Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.H165Q	ENST00000230588.4	37	c.495	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833228	0.71258	.	.	ENSG00000112818	ENST00000230588	D	0.97811	-4.55	5.81	-4.13	0.03904	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	H	0.99225	4.475	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98936	1.0789	10	0.87932	D	0	-28.0525	14.6527	0.68808	0.0:0.3176:0.0:0.6824	.	193;165	B7ZL91;Q16819	.;MEP1A_HUMAN	Q	165	ENSP00000230588:H165Q	ENSP00000230588:H165Q	H	+	3	2	MEP1A	46895339	0.151000	0.22747	0.970000	0.41538	0.963000	0.63663	-0.620000	0.05565	-0.726000	0.04895	-0.757000	0.03467	CAC	MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	ENSG00000112818		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	170	0.00	0	C	NM_005588		46787380	46787380	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	missense	449	61.31	713	SNP	0.948	A
EVL	51466	genome.wustl.edu	37	14	100576047	100576047	+	Intron	SNP	A	A	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr14:100576047A>G	ENST00000402714.2	+	3	956				MIR342_ENST00000362212.1_RNA|MIR151B_ENST00000584249.1_RNA|EVL_ENST00000544450.2_Intron|EVL_ENST00000392920.3_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				tggttaatggaattgtctcac	0.527																																						dbGAP											0													79.0	78.0	79.0					14																	100576047		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.352+12052A>G	14.37:g.100576047A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	RNA	SNP	-	NULL	ENST00000402714.2	37	NULL		14																																																																																			MIR342	-	-	ENSG00000199082		0.527	EVL-006	KNOWN	basic|appris_candidate	protein_coding	MIR342	HGNC	protein_coding	OTTHUMT00000413958.1	80	0.00	0	A			100576047	100576047	+1	no_errors	ENST00000362212	ensembl	human	known	69_37n	rna	101	41.95	73	SNP	0.993	G
MTMR12	54545	genome.wustl.edu	37	5	32233991	32233991	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr5:32233991A>C	ENST00000382142.3	-	15	1732	c.1562T>G	c.(1561-1563)gTg>gGg	p.V521G	MTMR12_ENST00000280285.5_Intron|MTMR12_ENST00000264934.5_Intron|RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	521	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAATCCCACACGGTGAGCAG	0.502																																						dbGAP											0													132.0	123.0	126.0					5																	32233991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1562T>G	5.37:g.32233991A>C	ENSP00000371577:p.Val521Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	pfam_Myotubularin_assoc	p.V521G	ENST00000382142.3	37	c.1562	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572983	0.86542	.	.	ENSG00000150712	ENST00000382142	D	0.91843	-2.92	5.63	5.63	0.86233	Myotubularin phosphatase domain (1);	0.225340	0.36409	N	0.002602	D	0.95909	0.8668	M	0.90252	3.1	0.80722	D	1	D	0.71674	0.998	P	0.56343	0.796	D	0.96667	0.9493	10	0.87932	D	0	.	15.898	0.79350	1.0:0.0:0.0:0.0	.	521	Q9C0I1	MTMRC_HUMAN	G	521	ENSP00000371577:V521G	ENSP00000371577:V521G	V	-	2	0	MTMR12	32269748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.411000	0.90229	2.151000	0.67156	0.529000	0.55759	GTG	MTMR12	-	NULL	ENSG00000150712		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1	128	0.78	1	A	NM_019061		32233991	32233991	-1	no_errors	ENST00000382142	ensembl	human	known	69_37n	missense	186	44.18	148	SNP	1.000	C
MYB	4602	genome.wustl.edu	37	6	135520049	135520049	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:135520049T>G	ENST00000367814.4	+	10	1393	c.1207T>G	c.(1207-1209)Tta>Gta	p.L403V	MYB_ENST00000528774.1_Missense_Mutation_p.L521V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000442647.2_Missense_Mutation_p.L400V|MYB_ENST00000525369.1_Missense_Mutation_p.L318V|MYB_ENST00000533624.1_Missense_Mutation_p.L368V|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000534044.1_Missense_Mutation_p.L403V|MYB_ENST00000341911.5_Missense_Mutation_p.L524V|MYB_ENST00000527615.1_Missense_Mutation_p.L403V|MYB_ENST00000534121.1_Missense_Mutation_p.L508V|MYB_ENST00000316528.8_Missense_Mutation_p.L403V	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	403	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TATTTAGTTCTTAAACACTTC	0.338			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													68.0	68.0	68.0					6																	135520049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1207T>G	6.37:g.135520049T>G	ENSP00000356788:p.Leu403Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L524V	ENST00000367814.4	37	c.1570	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765994	0.49574	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.88	4.73	0.59995	C-myb, C-terminal (1);	0.080900	0.56097	D	0.000028	T	0.53318	0.1789	M	0.74258	2.255	0.25538	N	0.987209	B;P;P;D;B;P;D;P;P	0.76494	0.367;0.931;0.873;0.999;0.256;0.898;0.999;0.515;0.566	B;P;B;D;B;P;D;B;B	0.85130	0.232;0.519;0.225;0.997;0.086;0.815;0.995;0.176;0.389	T	0.52320	-0.8591	10	0.37606	T	0.19	-6.049	11.709	0.51614	0.0:0.0686:0.0:0.9314	.	368;403;400;521;318;508;524;403;403	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	V	524;400;403;403;403;403;318;521;508;403;368	ENSP00000339992:L524V;ENSP00000410825:L400V;ENSP00000326328:L403V;ENSP00000356788:L403V;ENSP00000433227:L403V;ENSP00000435938:L318V;ENSP00000434723:L521V;ENSP00000432851:L508V;ENSP00000435055:L403V;ENSP00000436605:L368V	ENSP00000237302:L403V	L	+	1	2	MYB	135561742	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.128000	0.42045	1.055000	0.40461	0.533000	0.62120	TTA	MYB	-	pfam_C-myb_C	ENSG00000118513		0.338	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	233	0.00	0	T			135520049	135520049	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	missense	143	26.29	51	SNP	1.000	G
MYOT	9499	genome.wustl.edu	37	5	137211662	137211662	+	Nonsense_Mutation	SNP	C	C	A	rs78456545		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr5:137211662C>A	ENST00000239926.4	+	3	875	c.501C>A	c.(499-501)tgC>tgA	p.C167*	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Nonsense_Mutation_p.C52*|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	167					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTGAAATGCAAGGACACCC	0.348																																						dbGAP											0													99.0	96.0	97.0					5																	137211662		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.501C>A	5.37:g.137211662C>A	ENSP00000239926:p.Cys167*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4R6|B4DT79	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C167*	ENST00000239926.4	37	c.501	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.529919	0.97641	.	.	ENSG00000120729	ENST00000239926;ENST00000515645	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	13.7118	0.62672	0.0:0.9263:0.0:0.0737	.	.	.	.	X	167;52	.	ENSP00000239926:C167X	C	+	3	2	MYOT	137239561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.595000	0.87683	0.655000	0.94253	TGC	MYOT	-	NULL	ENSG00000120729		0.348	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	108	0.00	0	C	NM_006790		137211662	137211662	+1	no_errors	ENST00000239926	ensembl	human	known	69_37n	nonsense	44	43.59	34	SNP	1.000	A
NDUFA10	4705	genome.wustl.edu	37	2	240954240	240954242	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr2:240954240_240954242delGAT	ENST00000252711.2	-	5	683_685	c.583_585delATC	c.(583-585)atcdel	p.I195del	NDUFA10_ENST00000404554.1_In_Frame_Del_p.I195del|NDUFA10_ENST00000307300.4_In_Frame_Del_p.I235del	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	195					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GGTAATCGCAGATGGTGACGCTC	0.537																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.583_585delATC	2.37:g.240954240_240954242delGAT	ENSP00000252711:p.Ile195del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WXC9	In_Frame_Del	DEL	pfam_Deoxynucleoside_kinase,pirsf_NADH_UbQ_OxRdtase_42KD_su	p.I195in_frame_del	ENST00000252711.2	37	c.585_583	CCDS2531.1	2																																																																																			NDUFA10	-	pfam_Deoxynucleoside_kinase,pirsf_NADH_UbQ_OxRdtase_42KD_su	ENSG00000130414		0.537	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA10	HGNC	protein_coding	OTTHUMT00000257180.2	44	0.00	0	GAT	NM_004544		240954240	240954242	-1	no_errors	ENST00000252711	ensembl	human	known	69_37n	in_frame_del	129	12.24	18	DEL	0.000:0.000:0.000	-
B4GALNT3	283358	genome.wustl.edu	37	12	675138	675138	+	IGR	SNP	G	G	A	rs200357192		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr12:675138G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Silent_p.I126I|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000397265.3_Silent_p.I73I|NINJ2_ENST00000542920.1_Silent_p.I44I|NINJ2_ENST00000433832.2_Silent_p.I44I	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCAGGACACCGATGACCACCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20537	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													143.0	105.0	118.0					12																	675138		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675138G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNC1|Q8N7T6	Silent	SNP	pfam_Ninjurin	p.I126	ENST00000266383.5	37	c.378	CCDS8504.1	12																																																																																			NINJ2	-	pfam_Ninjurin	ENSG00000171840		0.642	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ2	HGNC	protein_coding	OTTHUMT00000251406.2	28	0.00	0	G	NM_173593		675138	675138	-1	no_errors	ENST00000305108	ensembl	human	known	69_37n	silent	100	12.93	15	SNP	0.488	A
NKAIN2	154215	genome.wustl.edu	37	6	124676437	124676437	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:124676437G>A	ENST00000368417.1	+	3	277	c.217G>A	c.(217-219)Gtt>Att	p.V73I	NKAIN2_ENST00000368416.1_Missense_Mutation_p.V73I|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Missense_Mutation_p.V73I|NKAIN2_ENST00000545433.1_Missense_Mutation_p.V58I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		AGTCCTCTGGGTTACGTGGAA	0.383																																						dbGAP											0													307.0	280.0	289.0					6																	124676437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.217G>A	6.37:g.124676437G>A	ENSP00000357402:p.Val73Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.V73I	ENST00000368417.1	37	c.217	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171559	0.38315	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.74	4.87	0.63330	.	0.492294	0.23291	N	0.049782	T	0.06781	0.0173	L	0.54908	1.71	0.28890	N	0.893886	B;B;B;B	0.16166	0.002;0.0;0.009;0.016	B;B;B;B	0.21151	0.005;0.003;0.008;0.033	T	0.24764	-1.0151	10	0.21540	T	0.41	-7.6587	11.1081	0.48214	0.194:0.0:0.806:0.0	.	73;72;73;73	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	I	73;73;73;72;58	ENSP00000357401:V73I;ENSP00000357402:V73I;ENSP00000440287:V73I;ENSP00000437798:V58I	ENSP00000357401:V73I	V	+	1	0	NKAIN2	124718136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.318000	0.43779	1.419000	0.47118	0.650000	0.86243	GTT	NKAIN2	-	pfam_Na/K-Atpase_Interacting	ENSG00000188580		0.383	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	467	0.00	0	G	NM_001040214		124676437	124676437	+1	no_errors	ENST00000368417	ensembl	human	known	69_37n	missense	499	17.36	105	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2096293	2096293	+	5'Flank	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr16:2096293C>T	ENST00000219476.3	+	0	0				TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000439673.2_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.D72N|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000350773.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCTCACTGTCCGAGCCCTCA	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													101.0	97.0	98.0					16																	2096293		2198	4300	6498	-	-	-	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096293C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.D72N	ENST00000219476.3	37	c.214	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088436	0.20390	.	.	ENSG00000065057	ENST00000219066	T	0.14516	2.5	4.73	3.5	0.40072	.	0.813140	0.10971	N	0.613806	T	0.10078	0.0247	L	0.33485	1.01	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.36890	-0.9729	10	0.27082	T	0.32	-1.027	5.6241	0.17473	0.1746:0.6852:0.0:0.1403	.	72;72	E5KTI5;P78549	.;NTHL1_HUMAN	N	72	ENSP00000219066:D72N	ENSP00000219066:D72N	D	-	1	0	NTHL1	2036294	0.034000	0.19679	0.004000	0.12327	0.049000	0.14656	1.542000	0.36137	0.656000	0.30886	0.561000	0.74099	GAC	NTHL1	-	NULL	ENSG00000065057		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2	24	0.00	0	C	NM_000548		2096293	2096293	-1	no_errors	ENST00000219066	ensembl	human	known	69_37n	missense	94	45.03	77	SNP	0.034	T
PTGER1	5731	genome.wustl.edu	37	19	14583533	14583533	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr19:14583533C>T	ENST00000292513.3	-	3	1165	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M		NM_000955.2	NP_000946.2	P34995	PE2R1_HUMAN	prostaglandin E receptor 1 (subtype EP1), 42kDa	350					G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)|Dinoprostone(DB00917)|Iloprost(DB01088)	AGGATGTACACCCAAGGGTCC	0.711																																						dbGAP											0													26.0	25.0	25.0					19																	14583533		2197	4296	6493	-	-	-	SO:0001583	missense	0				CCDS12309.1	19p13.1	2012-08-08	2002-08-29		ENSG00000160951	ENSG00000160951		"""GPCR / Class A : Prostanoid receptors"""	9593	protein-coding gene	gene with protein product		176802	"""prostaglandin E receptor 1 (subtype EP1), 42kD"""			8253813	Standard	NM_000955		Approved	EP1	uc002mys.3	P34995	OTTHUMG00000039610	ENST00000292513.3:c.1048G>A	19.37:g.14583533C>T	ENSP00000292513:p.Val350Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5U4|Q86UH3|Q86VB5|Q8NHB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP1_rcpt,prints_Prostanoid_rcpt,prints_Prostglndn_DP_rcpt,prints_Thbox_rcpt	p.V350M	ENST00000292513.3	37	c.1048	CCDS12309.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376840	0.82682	.	.	ENSG00000160951	ENST00000292513	T	0.42900	0.96	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.64427	0.2597	M	0.87827	2.91	0.49582	D	0.999804	D	0.64830	0.994	D	0.74674	0.984	T	0.69041	-0.5250	10	0.87932	D	0	-25.6783	8.0992	0.30846	0.0:0.8921:0.0:0.1079	.	350	P34995	PE2R1_HUMAN	M	350	ENSP00000292513:V350M	ENSP00000292513:V350M	V	-	1	0	PTGER1	14444533	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.513000	0.67037	2.277000	0.76020	0.561000	0.74099	GTG	PTGER1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000160951		0.711	PTGER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER1	HGNC	protein_coding	OTTHUMT00000095509.1	13	0.00	0	C			14583533	14583533	-1	no_errors	ENST00000292513	ensembl	human	known	69_37n	missense	14	63.16	24	SNP	1.000	T
PSMC4	5704	genome.wustl.edu	37	19	40487109	40487109	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr19:40487109T>C	ENST00000157812.2	+	11	1352	c.1154T>C	c.(1153-1155)tTg>tCg	p.L385S	PSMC4_ENST00000455878.2_Missense_Mutation_p.L354S	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	385					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTGGAATGTTGGCTGTCCGT	0.488																																					Colon(105;1478 1543 4034 6132 38638)	dbGAP											0													186.0	153.0	164.0					19																	40487109		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1154T>C	19.37:g.40487109T>C	ENSP00000157812:p.Leu385Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.L385S	ENST00000157812.2	37	c.1154	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	t	16.64	3.178336	0.57692	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95272	-3.66;-3.66	4.88	4.88	0.63580	.	0.133024	0.42821	D	0.000659	D	0.93546	0.7940	M	0.78801	2.425	0.51233	D	0.999919	B;B	0.27068	0.026;0.167	B;B	0.26614	0.041;0.071	D	0.92672	0.6151	10	0.66056	D	0.02	-18.937	12.4863	0.55874	0.0:0.0:0.0:1.0	.	354;385	P43686-2;P43686	.;PRS6B_HUMAN	S	385;354	ENSP00000157812:L385S;ENSP00000413869:L354S	ENSP00000157812:L385S	L	+	2	0	PSMC4	45178949	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	6.840000	0.75369	2.054000	0.61138	0.459000	0.35465	TTG	PSMC4	-	tigrfam_26S_Psome_P45	ENSG00000013275		0.488	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	89	0.00	0	T	NM_006503		40487109	40487109	+1	no_errors	ENST00000157812	ensembl	human	known	69_37n	missense	157	36.18	89	SNP	1.000	C
RCAN1	1827	genome.wustl.edu	37	21	35890532	35890532	+	Silent	SNP	T	T	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr21:35890532T>G	ENST00000313806.4	-	4	739	c.609A>C	c.(607-609)gcA>gcC	p.A203A	RCAN1_ENST00000481448.1_Silent_p.A193A|RCAN1_ENST00000482533.1_Silent_p.A68A|RCAN1_ENST00000381132.2_Silent_p.A148A|RCAN1_ENST00000487990.1_Silent_p.A68A|RCAN1_ENST00000443408.2_Silent_p.A68A|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Silent_p.A122A|RCAN1_ENST00000381135.3_Silent_p.A193A	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	203					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGTCAGTCGCTGCGTGCAATT	0.473																																						dbGAP											0													88.0	81.0	83.0					21																	35890532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.609A>C	21.37:g.35890532T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	pfam_Calcipressin	p.A203	ENST00000313806.4	37	c.609	CCDS13637.1	21																																																																																			RCAN1	-	pfam_Calcipressin	ENSG00000159200		0.473	RCAN1-001	KNOWN	basic|CCDS	protein_coding	RCAN1	HGNC	protein_coding	OTTHUMT00000194142.1	83	0.00	0	T			35890532	35890532	-1	no_errors	ENST00000313806	ensembl	human	known	69_37n	silent	123	16.89	25	SNP	0.600	G
SCARA3	51435	genome.wustl.edu	37	8	27516828	27516828	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr8:27516828G>A	ENST00000301904.3	+	5	1161	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	SCARA3_ENST00000337221.4_Missense_Mutation_p.V381M	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	381					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCTGGATGACGTGCGGCTCTC	0.562																																						dbGAP											0													148.0	112.0	124.0					8																	27516828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1141G>A	8.37:g.27516828G>A	ENSP00000301904:p.Val381Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM15|Q9UM16	Missense_Mutation	SNP	pfam_Collagen	p.V381M	ENST00000301904.3	37	c.1141	CCDS34871.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315319	0.81358	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	D;D	0.97480	-4.4;-4.4	5.93	5.93	0.95920	.	0.056062	0.64402	D	0.000001	D	0.96917	0.8993	L	0.27053	0.805	0.48975	D	0.999739	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.925	D	0.97403	0.9997	10	0.59425	D	0.04	-27.1872	17.8477	0.88736	0.0:0.0:1.0:0.0	.	381;381	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	M	381	ENSP00000337985:V381M;ENSP00000301904:V381M	ENSP00000301904:V381M	V	+	1	0	SCARA3	27572747	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.333000	0.96459	2.826000	0.97356	0.655000	0.94253	GTG	SCARA3	-	NULL	ENSG00000168077		0.562	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	HGNC	protein_coding	OTTHUMT00000376258.2	24	0.00	0	G	NM_016240		27516828	27516828	+1	no_errors	ENST00000301904	ensembl	human	known	69_37n	missense	62	14.86	11	SNP	1.000	A
SHPRH	257218	genome.wustl.edu	37	6	146276440	146276440	+	Missense_Mutation	SNP	G	G	C	rs199766045		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr6:146276440G>C	ENST00000367505.2	-	2	283	c.19C>G	c.(19-21)Cgt>Ggt	p.R7G	SHPRH_ENST00000438092.2_Missense_Mutation_p.R7G|SHPRH_ENST00000367503.3_Missense_Mutation_p.R7G|SHPRH_ENST00000275233.7_Missense_Mutation_p.R7G			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	7					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGAGGAGCACGTTTCCGTCGG	0.423																																						dbGAP											0													121.0	117.0	118.0					6																	146276440		1934	4147	6081	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.19C>G	6.37:g.146276440G>C	ENSP00000356475:p.Arg7Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.R7G	ENST00000367505.2	37	c.19	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493811	0.64186	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.66	5.66	0.87406	.	0.071728	0.52532	D	0.000065	T	0.62344	0.2420	L	0.56769	1.78	0.52099	D	0.999941	D;P;P	0.59357	0.985;0.646;0.759	P;B;P	0.49140	0.601;0.286;0.478	T	0.67480	-0.5660	10	0.87932	D	0	-12.6553	19.7365	0.96208	0.0:0.0:1.0:0.0	.	7;7;7	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	G	7	ENSP00000356475:R7G;ENSP00000356473:R7G;ENSP00000412797:R7G;ENSP00000275233:R7G	ENSP00000275233:R7G	R	-	1	0	SHPRH	146318133	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.086000	0.57664	2.672000	0.90937	0.655000	0.94253	CGT	SHPRH	-	NULL	ENSG00000146414		0.423	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	68	0.00	0	G	NM_173082		146276440	146276440	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	143	11.73	19	SNP	1.000	C
SIDT2	51092	genome.wustl.edu	37	11	117066657	117066657	+	Intron	SNP	G	G	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr11:117066657G>T	ENST00000324225.4	+	25	2967				SIDT2_ENST00000532062.1_Intron|SIDT2_ENST00000431081.2_Intron	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCCGAGCCGGGTGGGTACGT	0.602																																						dbGAP											0													121.0	115.0	117.0					11																	117066657		2201	4296	6497	-	-	-	SO:0001627	intron_variant	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2436+26G>T	11.37:g.117066657G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.G842V	ENST00000324225.4	37	c.2525	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	G	8.671	0.902821	0.17760	.	.	ENSG00000149577	ENST00000278951	T	0.18960	2.18	3.77	0.841	0.18918	.	1.356490	0.05651	N	0.585209	T	0.12475	0.0303	.	.	.	0.18873	N	0.999982	B	0.14438	0.01	B	0.13407	0.009	T	0.34354	-0.9832	8	.	.	.	0.3785	5.7413	0.18096	0.3639:0.0:0.6361:0.0	.	842	C9JBG5	.	V	842	ENSP00000278951:G842V	.	G	+	2	0	SIDT2	116571867	0.010000	0.17322	0.002000	0.10522	0.001000	0.01503	1.606000	0.36826	0.185000	0.20105	-0.222000	0.12452	GGG	SIDT2	-	NULL	ENSG00000149577		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	54	0.00	0	G	NM_015996		117066657	117066657	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	241	10.41	28	SNP	0.002	T
SIGLEC12	89858	genome.wustl.edu	37	19	52001438	52001438	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr19:52001438C>A	ENST00000291707.3	-	5	1294	c.1239G>T	c.(1237-1239)tgG>tgT	p.W413C	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.W295C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	413	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCCAGGTCCAGCTCAGCC	0.622																																						dbGAP											0													47.0	45.0	46.0					19																	52001438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1239G>T	19.37:g.52001438C>A	ENSP00000291707:p.Trp413Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W413C	ENST00000291707.3	37	c.1239	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	11.94	1.787163	0.31593	.	.	ENSG00000254521	ENST00000291707	T	0.50813	0.73	1.39	0.199	0.15175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35320	U	0.003285	T	0.73961	0.3654	H	0.98089	4.145	0.20764	N	0.999857	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.62996	-0.6735	10	0.87932	D	0	.	5.3347	0.15951	0.0:0.6343:0.3657:0.0	.	413;295	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	C	413	ENSP00000291707:W413C	ENSP00000291707:W413C	W	-	3	0	SIGLEC12	56693250	0.223000	0.23663	0.059000	0.19551	0.422000	0.31414	0.682000	0.25335	0.120000	0.18254	0.393000	0.25936	TGG	SIGLEC12	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000254521		0.622	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	28	0.00	0	C	NM_053003		52001438	52001438	-1	no_errors	ENST00000291707	ensembl	human	known	69_37n	missense	73	14.12	12	SNP	0.084	A
SLC5A4	6527	genome.wustl.edu	37	22	32614516	32614516	+	Silent	SNP	G	G	A	rs372331398		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr22:32614516G>A	ENST00000266086.4	-	15	1976	c.1965C>T	c.(1963-1965)caC>caT	p.H655H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	655					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATAGTAGCCGTGAATAAAGA	0.393																																						dbGAP											0													95.0	72.0	80.0					22																	32614516		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1965C>T	22.37:g.32614516G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15279	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.H655	ENST00000266086.4	37	c.1965	CCDS13903.1	22																																																																																			SLC5A4	-	NULL	ENSG00000100191		0.393	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	42	0.00	0	G	NM_014227		32614516	32614516	-1	no_errors	ENST00000266086	ensembl	human	known	69_37n	silent	85	22.02	24	SNP	0.296	A
SPNS3	201305	genome.wustl.edu	37	17	4389850	4389850	+	Silent	SNP	C	C	T	rs201939415		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr17:4389850C>T	ENST00000355530.2	+	11	1702	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D	RP13-580F15.2_ENST00000577176.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA|SPNS3_ENST00000333476.2_Silent_p.D347D|RP13-580F15.2_ENST00000577064.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	474					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TGGAGAGAGACGAGACCCGGG	0.677																																						dbGAP											0													32.0	36.0	35.0					17																	4389850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1422C>T	17.37:g.4389850C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZ31	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D474	ENST00000355530.2	37	c.1422	CCDS11045.1	17																																																																																			SPNS3	-	pfscan_MFS_dom	ENSG00000182557		0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	12	0.00	0	C	NM_182538		4389850	4389850	+1	no_errors	ENST00000355530	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	rs17849781		TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr17:7577106G>C	ENST00000269305.4	-	8	1021	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278A|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278A	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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"""	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72.0	62.0	65.0					17																	7577106		2203	4300	6503	-	-	-	SO:0001583	missense	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.832C>G	17.37:g.7577106G>C	ENSP00000269305:p.Pro278Ala	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	Missense_Mutation	SNP	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.P278A	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954842	0.92726	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.992;1.0;0.991;0.988	D	0.96234	0.9170	10	0.72032	D	0.01	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	rs17849781	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	278;278;278;278;278;267;146	ENSP00000352610:P278A;ENSP00000269305:P278A;ENSP00000398846:P278A;ENSP00000391127:P278A;ENSP00000391478:P278A;ENSP00000425104:P146A	ENSP00000269305:P278A	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	70	0.00	0	G	NM_000546		7577106	7577106	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	98	50.75	101	SNP	1.000	C
TAOK1	57551	genome.wustl.edu	37	17	27805320	27805320	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr17:27805320C>G	ENST00000261716.3	+	6	923	c.404C>G	c.(403-405)gCt>gGt	p.A135G	TAOK1_ENST00000536202.1_Missense_Mutation_p.A135G	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACACATGGTGCTCTTCAGGGA	0.294																																						dbGAP											0													108.0	113.0	111.0					17																	27805320		2203	4291	6494	-	-	-	SO:0001583	missense	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.404C>G	17.37:g.27805320C>G	ENSP00000261716:p.Ala135Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A135G	ENST00000261716.3	37	c.404	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012762	0.75161	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.65732	-0.17;1.75	5.83	5.83	0.93111	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	T	0.69378	0.3104	M	0.77712	2.385	0.80722	D	1	B;B	0.22346	0.068;0.064	B;B	0.29942	0.109;0.073	T	0.66097	-0.6008	10	0.48119	T	0.1	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	135;135	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	G	135	ENSP00000261716:A135G;ENSP00000438819:A135G	ENSP00000261716:A135G	A	+	2	0	TAOK1	24829446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.083000	0.71326	2.757000	0.94681	0.563000	0.77884	GCT	TAOK1	-	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	ENSG00000160551		0.294	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	133	0.00	0	C	NM_020791		27805320	27805320	+1	no_errors	ENST00000261716	ensembl	human	known	69_37n	missense	152	11.11	19	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179396209	179396209	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr2:179396209C>G	ENST00000591111.1	-	308	100434	c.100210G>C	c.(100210-100212)Gat>Cat	p.D33404H	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26172H|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35045H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26105H|TTN_ENST00000460472.2_Missense_Mutation_p.D25980H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32477H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33404					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)			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)			ACCTCTTCATCTCTGCGTTGG	0.488																																						dbGAP											0													126.0	125.0	125.0					2																	179396209		1941	4154	6095	-	-	-	SO:0001583	missense	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.100210G>C	2.37:g.179396209C>G	ENSP00000465570:p.Asp33404His	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	Missense_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.D32477H	ENST00000591111.1	37	c.97429		2	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275880	0.59649	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.07;-0.09;-0.02	5.45	5.45	0.79879	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.75280	0.3828	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78114	-0.2330	9	0.87932	D	0	.	19.2879	0.94085	0.0:1.0:0.0:0.0	.	25980;26105;26172;33404	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	32477;25980;26172;26105;25977	ENSP00000343764:D32477H;ENSP00000434586:D25980H;ENSP00000340554:D26172H;ENSP00000352154:D26105H	ENSP00000340554:D26172H	D	-	1	0	TTN	179104455	1.000000	0.71417	0.996000	0.52242	0.385000	0.30292	7.818000	0.86416	2.558000	0.86282	0.650000	0.86243	GAT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	122	0.00	0	C	NM_133378		179396209	179396209	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	146	28.64	59	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179569129	179569129	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr2:179569129C>G	ENST00000591111.1	-	104	29241	c.29017G>C	c.(29017-29019)Gca>Cca	p.A9673P	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9990P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8746P|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13749	Ig-like 78.				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)			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)			CGTTCCCATGCAGGCTCTGTT	0.403																																						dbGAP											0													178.0	172.0	174.0					2																	179569129		1987	4175	6162	-	-	-	SO:0001583	missense	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.29017G>C	2.37:g.179569129C>G	ENSP00000465570:p.Ala9673Pro	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	Missense_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.A8746P	ENST00000591111.1	37	c.26236		2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586557	0.28268	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.99	2.21	0.28008	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34513	0.0900	L	0.31294	0.92	0.18873	N	0.999986	P	0.42203	0.773	B	0.42827	0.399	T	0.15235	-1.0444	9	0.87932	D	0	.	10.4025	0.44237	0.0:0.7385:0.0:0.2615	.	9673	Q8WZ42	TITIN_HUMAN	P	8746	ENSP00000343764:A8746P	ENSP00000343764:A8746P	A	-	1	0	TTN	179277374	1.000000	0.71417	0.467000	0.27180	0.883000	0.51084	2.878000	0.48515	0.434000	0.26340	0.655000	0.94253	GCA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	123	0.00	0	C	NM_133378		179569129	179569129	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	178	12.25	25	SNP	0.139	G
UNC5D	137970	genome.wustl.edu	37	8	35631900	35631900	+	Silent	SNP	C	C	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr8:35631900C>A	ENST00000404895.2	+	16	2890	c.2562C>A	c.(2560-2562)ccC>ccA	p.P854P	UNC5D_ENST00000416672.1_Silent_p.P859P|UNC5D_ENST00000287272.2_Silent_p.P785P|UNC5D_ENST00000420357.1_Silent_p.P787P|UNC5D_ENST00000449677.1_Silent_p.P430P|UNC5D_ENST00000453357.2_Silent_p.P849P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	854					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAATTCCCTACTCCATCA	0.453																																						dbGAP											0													143.0	130.0	134.0					8																	35631900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2562C>A	8.37:g.35631900C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.P854	ENST00000404895.2	37	c.2562	CCDS6093.2	8																																																																																			UNC5D	-	superfamily_DEATH-like,smart_Death	ENSG00000156687		0.453	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	143	0.00	0	C			35631900	35631900	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	silent	166	16.58	33	SNP	1.000	A
YWHAB	7529	genome.wustl.edu	37	20	43530358	43530358	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr20:43530358C>T	ENST00000372839.3	+	3	458	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.R62C	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	62					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|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)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTCTTCCTGGCGTGTCATCTC	0.517																																						dbGAP											0													81.0	81.0	81.0					20																	43530358		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.184C>T	20.37:g.43530358C>T	ENSP00000361930:p.Arg62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9K2|E1P616	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.R62C	ENST00000372839.3	37	c.184	CCDS13339.1	20	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035586	0.93630	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.65	5.65	0.86999	14-3-3 domain (4);	0.048055	0.85682	D	0.000000	T	0.81697	0.4877	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85962	0.1471	10	0.87932	D	0	-5.4971	20.1057	0.97893	0.0:1.0:0.0:0.0	.	62	P31946	1433B_HUMAN	C	62	ENSP00000300161:R62C;ENSP00000361930:R62C;ENSP00000394729:R62C;ENSP00000394558:R62C	ENSP00000300161:R62C	R	+	1	0	YWHAB	42963772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.823000	0.62694	2.827000	0.97445	0.650000	0.86243	CGT	YWHAB	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000166913		0.517	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	55	0.00	0	C	NM_003404		43530358	43530358	+1	no_errors	ENST00000353703	ensembl	human	known	69_37n	missense	100	23.70	32	SNP	1.000	T
ZBTB41	360023	genome.wustl.edu	37	1	197169544	197169544	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr1:197169544T>G	ENST00000367405.4	-	1	128	c.60A>C	c.(58-60)aaA>aaC	p.K20N	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGAAGAATCTTTATGATAGC	0.408																																						dbGAP											0													88.0	91.0	90.0					1																	197169544		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.60A>C	1.37:g.197169544T>G	ENSP00000356375:p.Lys20Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K20N	ENST00000367405.4	37	c.60	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888001	0.33348	.	.	ENSG00000177888	ENST00000367405	T	0.07021	3.23	5.13	3.98	0.46160	.	0.000000	0.46442	D	0.000297	T	0.07458	0.0188	N	0.24115	0.695	0.30620	N	0.758585	D	0.58620	0.983	P	0.47864	0.559	T	0.10428	-1.0630	10	0.87932	D	0	.	5.0519	0.14513	0.0:0.1534:0.1582:0.6884	.	20	Q5SVQ8	ZBT41_HUMAN	N	20	ENSP00000356375:K20N	ENSP00000356375:K20N	K	-	3	2	ZBTB41	195436167	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	0.819000	0.27308	0.757000	0.33036	0.254000	0.18369	AAA	ZBTB41	-	NULL	ENSG00000177888		0.408	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	82	0.00	0	T	NM_194314		197169544	197169544	-1	no_errors	ENST00000367405	ensembl	human	known	69_37n	missense	73	51.01	76	SNP	0.998	G
ZBTB49	166793	genome.wustl.edu	37	4	4314784	4314784	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr4:4314784C>G	ENST00000337872.4	+	5	1440	c.1319C>G	c.(1318-1320)aCt>aGt	p.T440S	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AACTTGCAGACTCACTTACGA	0.403																																						dbGAP											0													174.0	152.0	160.0					4																	4314784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1319C>G	4.37:g.4314784C>G	ENSP00000338807:p.Thr440Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T440S	ENST00000337872.4	37	c.1319	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413596	0.83449	.	.	ENSG00000168826	ENST00000337872	T	0.07114	3.22	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000021	T	0.13884	0.0336	N	0.13299	0.325	0.80722	D	1	B	0.28801	0.223	P	0.49047	0.599	T	0.46062	-0.9218	10	0.31617	T	0.26	.	18.5936	0.91223	0.0:1.0:0.0:0.0	.	440	Q6ZSB9	ZBT49_HUMAN	S	440	ENSP00000338807:T440S	ENSP00000338807:T440S	T	+	2	0	ZBTB49	4365685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.714000	0.74692	2.403000	0.81681	0.650000	0.86243	ACT	ZBTB49	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168826		0.403	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	398	0.00	0	C	NM_145291		4314784	4314784	+1	no_errors	ENST00000337872	ensembl	human	known	69_37n	missense	418	10.66	50	SNP	1.000	G
ZHX1	11244	genome.wustl.edu	37	8	124266845	124266845	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr8:124266845G>A	ENST00000522655.1	-	3	1882	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	ZHX1_ENST00000297857.2_Missense_Mutation_p.P448S|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.P448S|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	448	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGAAGTTGGAACTGCTGCT	0.428																																						dbGAP											0													123.0	128.0	126.0					8																	124266845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1342C>T	8.37:g.124266845G>A	ENSP00000428821:p.Pro448Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P448S	ENST00000522655.1	37	c.1342	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	2.742	-0.262054	0.05791	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.20200	2.09;2.09;2.09	4.9	3.99	0.46301	.	0.476842	0.20417	N	0.092750	T	0.14570	0.0352	.	.	.	0.44660	D	0.997643	B	0.15141	0.012	B	0.16289	0.015	T	0.05402	-1.0887	9	0.15066	T	0.55	-6.1337	14.6524	0.68808	0.0:0.0:0.8438:0.1562	.	448	Q9UKY1	ZHX1_HUMAN	S	448	ENSP00000297857:P448S;ENSP00000378938:P448S;ENSP00000428821:P448S	ENSP00000297857:P448S	P	-	1	0	ZHX1	124336026	0.996000	0.38824	0.033000	0.17914	0.676000	0.39594	3.419000	0.52728	1.196000	0.43129	0.455000	0.32223	CCA	ZHX1	-	NULL	ENSG00000165156		0.428	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	104	0.00	0	G			124266845	124266845	-1	no_errors	ENST00000297857	ensembl	human	known	69_37n	missense	184	10.24	21	SNP	0.595	A
ZNF429	353088	genome.wustl.edu	37	19	21720707	21720707	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A142-01A-11D-A10Y-09	TCGA-D8-A142-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	86c9c056-e9c7-4653-a0b5-29f2b140534b	45e9f8c4-5eac-44fe-b1bd-4e9285524e60	g.chr19:21720707G>C	ENST00000358491.4	+	4	2060	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TCATACTAGAGAGAAACCTTA	0.383																																						dbGAP											0													60.0	65.0	63.0					19																	21720707		2083	4247	6330	-	-	-	SO:0001583	missense	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1852G>C	19.37:g.21720707G>C	ENSP00000351280:p.Glu618Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV7|Q9BZE6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E618Q	ENST00000358491.4	37	c.1852	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	13.46	2.244452	0.39697	.	.	ENSG00000197013	ENST00000358491	T	0.25912	1.77	1.25	-0.0544	0.13813	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30603	0.0770	L	0.53561	1.675	0.27610	N	0.948705	D	0.55605	0.972	P	0.51918	0.684	T	0.17899	-1.0354	9	0.66056	D	0.02	.	6.4076	0.21672	0.1848:0.0:0.8152:0.0	.	618	Q86V71	ZN429_HUMAN	Q	618	ENSP00000351280:E618Q	ENSP00000351280:E618Q	E	+	1	0	ZNF429	21512547	0.997000	0.39634	0.001000	0.08648	0.002000	0.02628	2.672000	0.46850	-0.169000	0.10834	-0.361000	0.07541	GAG	ZNF429	-	pfscan_Znf_C2H2	ENSG00000197013		0.383	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	181	0.00	0	G	NM_001001415		21720707	21720707	+1	no_errors	ENST00000358491	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	1.000	C
