#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
ABCA2	20	genome.wustl.edu	37	9	139905720	139905720	+	Silent	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr9:139905720G>A	ENST00000371605.3	-	37	5985	c.5838C>T	c.(5836-5838)ctC>ctT	p.L1946L	ABCA2_ENST00000341511.6_Silent_p.L1947L|ABCA2_ENST00000265662.5_Silent_p.L1947L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1946					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGAAAATGAGGAAGCAGC	0.617																																						dbGAP											0													51.0	54.0	53.0					9																	139905720		1941	4119	6060	-	-	-	SO:0001819	synonymous_variant	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5838C>T	9.37:g.139905720G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1297L	ENST00000371605.3	37	c.3890		9																																																																																			ABCA2	-	NULL	ENSG00000107331		0.617	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		50	0.00	0	G	NM_001606		139905720	139905720	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000479446	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	A
ADAM23	8745	genome.wustl.edu	37	2	207406859	207406859	+	Splice_Site	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr2:207406859G>A	ENST00000264377.3	+	5	984		c.e5+1		ADAM23_ENST00000374416.1_Splice_Site|ADAM23_ENST00000374415.3_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATGGACTTCAGTAAGTGGGAA	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)	dbGAP											0													112.0	103.0	106.0					2																	207406859		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.656+1G>A	2.37:g.207406859G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU59	Splice_Site	SNP	-	e5+1	ENST00000264377.3	37	c.656+1	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902655	0.72754	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5769	0.91158	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM23	207115104	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.837000	0.86796	2.471000	0.83476	0.650000	0.86243	.	ADAM23	-	-	ENSG00000114948		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	51	0.00	0	G	NM_003812	Intron	207406859	207406859	+1	no_errors	ENST00000264377	ensembl	human	known	69_37n	splice_site	27	32.50	13	SNP	1.000	A
C6orf62	81688	genome.wustl.edu	37	6	24709014	24709017	+	Frame_Shift_Del	DEL	CTGT	CTGT	-	rs553652359		TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	CTGT	CTGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr6:24709014_24709017delCTGT	ENST00000378119.4	-	4	2719_2722	c.552_555delACAG	c.(550-555)agacagfs	p.RQ184fs	C6orf62_ENST00000378102.3_Frame_Shift_Del_p.RQ155fs|RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000540769.1_Frame_Shift_Del_p.RQ126fs	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	184						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CCTGCAAGTGCTGTCTGTCAATGA	0.377																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.552_555delACAG	6.37:g.24709018_24709021delCTGT	ENSP00000367359:p.Arg184fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Frame_Shift_Del	DEL	NULL	p.R184fs	ENST00000378119.4	37	c.555_552	CCDS4559.1	6																																																																																			C6orf62	-	NULL	ENSG00000112308		0.377	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	77	0.00	0	CTGT	NM_030939		24709014	24709017	-1	no_errors	ENST00000378119	ensembl	human	known	69_37n	frame_shift_del	53	34.57	28	DEL	1.000:1.000:1.000:1.000	-
DHX40	79665	genome.wustl.edu	37	17	57652830	57652830	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr17:57652830C>T	ENST00000251241.4	+	7	1118	c.971C>T	c.(970-972)aCa>aTa	p.T324I	DHX40_ENST00000425628.3_Missense_Mutation_p.T247I|DHX40_ENST00000451169.2_Missense_Mutation_p.T225I	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	324	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAATGACAACAGGTAATTTC	0.313																																						dbGAP											0													87.0	82.0	84.0					17																	57652830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.971C>T	17.37:g.57652830C>T	ENSP00000251241:p.Thr324Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T324I	ENST00000251241.4	37	c.971	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771151	0.90108	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.75821	-0.97;2.54	5.27	5.27	0.74061	Helicase, C-terminal (3);	0.101968	0.64402	D	0.000003	D	0.82328	0.5013	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.67145	0.996;0.988	D;P	0.65010	0.931;0.796	D	0.84144	0.0419	10	0.87932	D	0	.	18.8907	0.92399	0.0:1.0:0.0:0.0	.	247;324	F5H625;Q8IX18	.;DHX40_HUMAN	I	324;247;324;225	ENSP00000251241:T324I;ENSP00000396039:T225I	ENSP00000251241:T324I	T	+	2	0	DHX40	55007612	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.256000	0.78350	2.446000	0.82766	0.655000	0.94253	ACA	DHX40	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000108406		0.313	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	HGNC	protein_coding	OTTHUMT00000446095.1	102	0.00	0	C	NM_024612		57652830	57652830	+1	no_errors	ENST00000251241	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	T
DNASE1L3	1776	genome.wustl.edu	37	3	58178422	58178422	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr3:58178422G>A	ENST00000394549.2	-	8	1226	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R304C|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.R274C	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	304					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTCTAGGAGCGTTTGCTCTTT	0.403																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	dbGAP											0													144.0	146.0	145.0					3																	58178422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.910C>T	3.37:g.58178422G>A	ENSP00000378053:p.Arg304Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.R304C	ENST00000394549.2	37	c.910	CCDS2886.1	3	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705951	0.30232	.	.	ENSG00000163687	ENST00000486455;ENST00000318316;ENST00000394549	T;T;T	0.39787	1.06;1.28;1.28	4.89	0.553	0.17235	.	3.511740	0.00357	N	0.000034	T	0.22513	0.0543	N	0.08118	0	0.09310	N	0.999997	P;P	0.51537	0.946;0.946	B;B	0.33521	0.165;0.165	T	0.40098	-0.9581	10	0.87932	D	0	-11.4892	9.1676	0.37060	0.0:0.1298:0.4252:0.445	.	274;304	B7Z707;Q13609	.;DNSL3_HUMAN	C	274;304;304	ENSP00000419052:R274C;ENSP00000316193:R304C;ENSP00000378053:R304C	ENSP00000316193:R304C	R	-	1	0	DNASE1L3	58153462	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.588000	0.23924	0.199000	0.20427	-1.067000	0.02272	CGC	DNASE1L3	-	NULL	ENSG00000163687		0.403	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1	79	0.00	0	G	NM_004944		58178422	58178422	-1	no_errors	ENST00000318316	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	0.000	A
ELOVL6	79071	genome.wustl.edu	37	4	111026713	111026713	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr4:111026713C>G	ENST00000394607.3	-	3	324	c.161G>C	c.(160-162)cGa>cCa	p.R54P	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Missense_Mutation_p.R54P			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	54					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AAACTTTGCTCGTTTATTCAT	0.383																																						dbGAP											0													78.0	78.0	78.0					4																	111026713		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.161G>C	4.37:g.111026713C>G	ENSP00000378105:p.Arg54Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L0|Q8NCD1	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.R54P	ENST00000394607.3	37	c.161	CCDS3690.1	4	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887990	0.91814	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.51	5.51	0.81932	.	0.160530	0.53938	D	0.000046	T	0.67211	0.2869	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75164	-0.3414	10	0.87932	D	0	-25.567	19.8068	0.96534	0.0:1.0:0.0:0.0	.	54	Q9H5J4	ELOV6_HUMAN	P	54	ENSP00000378105:R54P;ENSP00000304736:R54P;ENSP00000425488:R54P;ENSP00000426086:R54P	ENSP00000304736:R54P	R	-	2	0	ELOVL6	111246162	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	7.434000	0.80377	2.764000	0.94973	0.655000	0.94253	CGA	ELOVL6	-	pfam_GNS1_SUR4	ENSG00000170522		0.383	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1	48	0.00	0	C	NM_024090		111026713	111026713	-1	no_errors	ENST00000394607	ensembl	human	known	69_37n	missense	27	12.50	4	SNP	1.000	G
EYA4	2070	genome.wustl.edu	37	6	133783605	133783605	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr6:133783605G>T	ENST00000367895.5	+	8	1034	c.570G>T	c.(568-570)ttG>ttT	p.L190F	EYA4_ENST00000452339.2_Missense_Mutation_p.L136F|EYA4_ENST00000355167.3_Missense_Mutation_p.L190F|EYA4_ENST00000431403.2_Missense_Mutation_p.L190F|EYA4_ENST00000355286.6_Missense_Mutation_p.L167F|EYA4_ENST00000531901.1_Missense_Mutation_p.L190F|EYA4_ENST00000525849.1_Missense_Mutation_p.L167F|EYA4_ENST00000430974.2_Missense_Mutation_p.L136F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	190					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCTACAGCTTGCCCACTTACG	0.478																																					Melanoma(57;398 1237 3528 4702 7415)	dbGAP											0													141.0	118.0	126.0					6																	133783605		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.570G>T	6.37:g.133783605G>T	ENSP00000356870:p.Leu190Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.L190F	ENST00000367895.5	37	c.570	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864601	0.71949	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	L	0.50333	1.59	0.58432	D	0.999997	P;P;D;D;P;P	0.76494	0.896;0.948;0.999;0.999;0.948;0.948	P;P;D;D;P;P	0.71656	0.861;0.726;0.974;0.974;0.802;0.848	D	0.85234	0.1034	10	0.46703	T	0.11	7.4872	4.3865	0.11319	0.4275:0.0:0.5725:0.0	.	190;136;136;167;190;190	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	F	136;136;190;190;167;190;167;190	ENSP00000395916:L136F;ENSP00000388670:L136F;ENSP00000356870:L190F;ENSP00000347294:L190F;ENSP00000347434:L167F;ENSP00000432770:L190F;ENSP00000433219:L167F;ENSP00000404558:L190F	ENSP00000347294:L190F	L	+	3	2	EYA4	133825298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.287000	0.33284	1.536000	0.49237	0.650000	0.86243	TTG	EYA4	-	NULL	ENSG00000112319		0.478	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	127	0.00	0	G	NM_004100		133783605	133783605	+1	no_errors	ENST00000355167	ensembl	human	known	69_37n	missense	104	11.11	13	SNP	1.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184779	19184780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr7:19184779_19184780insA	ENST00000275461.3	-	1	264_265	c.206_207insT	c.(205-207)gtgfs	p.V69fs	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	69					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V69V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ccccctggtccacttcgcactc	0.634																																						dbGAP											1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.207dupT	7.37:g.19184780_19184780dupA	ENSP00000275461:p.Val69fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495K0	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D70fs	ENST00000275461.3	37	c.207_206	CCDS5368.1	7																																																																																			FERD3L	-	NULL	ENSG00000146618		0.634	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	21	0.00	0	-			19184779	19184780	-1	no_errors	ENST00000275461	ensembl	human	known	69_37n	frame_shift_ins	27	34.15	14	INS	0.001:0.000	A
GBP3	2635	genome.wustl.edu	37	1	89477458	89477458	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr1:89477458A>T	ENST00000370481.4	-	7	1341	c.1121T>A	c.(1120-1122)gTg>gAg	p.V374E		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	425					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAGATGGTCCACATCCTTGAA	0.433																																						dbGAP											0													50.0	41.0	44.0					1																	89477458		2189	3936	6125	-	-	-	SO:0001583	missense	0			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1121T>A	1.37:g.89477458A>T	ENSP00000359512:p.Val374Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.V374E	ENST00000370481.4	37	c.1121	CCDS717.2	1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.752179	0.00663	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.01647	4.71	3.62	1.11	0.20524	Guanylate-binding protein, C-terminal (3);	1.361950	0.04562	N	0.391750	T	0.00300	0.0009	N	0.04724	-0.175	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.17098	0.017;0.014	T	0.35301	-0.9794	10	0.02654	T	1	.	7.2487	0.26138	0.4619:0.0:0.0:0.5381	.	240;374	F6X827;Q9H0R5	.;GBP3_HUMAN	E	342;374;374	ENSP00000359512:V374E	ENSP00000235878:V374E	V	-	2	0	GBP3	89250046	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.338000	0.07842	0.094000	0.17404	0.416000	0.27883	GTG	GBP3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117226		0.433	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	21	0.00	0	A	NM_018284		89477458	89477458	-1	no_errors	ENST00000370481	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	0.001	T
IKBKAP	8518	genome.wustl.edu	37	9	111655314	111655314	+	Missense_Mutation	SNP	C	C	G	rs146198104		TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr9:111655314C>G	ENST00000374647.5	-	27	3217	c.2910G>C	c.(2908-2910)ttG>ttC	p.L970F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L621F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	970					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTCGTTATACAAGTTTTTAT	0.383																																						dbGAP											0													115.0	115.0	115.0					9																	111655314		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2910G>C	9.37:g.111655314C>G	ENSP00000363779:p.Leu970Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.L970F	ENST00000374647.5	37	c.2910	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320571	0.41096	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.59502	0.7;0.26	5.56	0.519	0.17035	.	0.075756	0.53938	D	0.000059	T	0.71929	0.3398	M	0.83774	2.66	0.40422	D	0.979853	D	0.89917	1.0	D	0.74674	0.984	T	0.72547	-0.4260	10	0.87932	D	0	-9.6817	8.1535	0.31154	0.0:0.6049:0.0:0.3951	.	970	O95163	ELP1_HUMAN	F	970;621	ENSP00000363779:L970F;ENSP00000439367:L621F	ENSP00000363779:L970F	L	-	3	2	IKBKAP	110695135	0.836000	0.29430	0.919000	0.36401	0.278000	0.26855	-0.262000	0.08682	0.308000	0.22923	-0.225000	0.12378	TTG	IKBKAP	-	pirsf_IKI3	ENSG00000070061		0.383	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	99	0.00	0	C			111655314	111655314	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	58	13.43	9	SNP	0.995	G
KRTAP4-6	81871	genome.wustl.edu	37	17	39296555	39296555	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr17:39296555C>T	ENST00000345847.4	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcAGGT	0.667																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(1)|lung(1)																																								-	-	-	SO:0001583	missense	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.185G>A	17.37:g.39296555C>T	ENSP00000328270:p.Arg62His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BYR1	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R62H	ENST00000345847.4	37	c.185	CCDS54125.1	17	.	.	.	.	.	.	.	.	.	.	.	12.34	1.910112	0.33721	.	.	ENSG00000198090	ENST00000345847	T	0.00612	6.22	4.8	-4.94	0.03057	.	1.669520	0.04239	N	0.336543	T	0.00552	0.0018	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44128	-0.9348	7	0.46703	T	0.11	.	0.5825	0.00714	0.3633:0.1775:0.1189:0.3402	.	.	.	.	H	62	ENSP00000328270:R62H	ENSP00000328270:R62H	R	-	2	0	KRTAP4-6	36550081	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.698000	0.05092	-0.422000	0.07405	-0.856000	0.03024	CGT	KRTAP4-6	-	pfam_Keratin-assoc	ENSG00000198090		0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	73	0.00	0	C			39296555	39296555	-1	no_errors	ENST00000345847	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9068688	9068688	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr19:9068688G>A	ENST00000397910.4	-	3	18961	c.18758C>T	c.(18757-18759)tCa>tTa	p.S6253L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6255	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGGTACTGAGGTCACAGA	0.483																																						dbGAP											0													119.0	116.0	117.0					19																	9068688		2025	4195	6220	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18758C>T	19.37:g.9068688G>A	ENSP00000381008:p.Ser6253Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6253L	ENST00000397910.4	37	c.18758	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.919	0.170697	0.09391	.	.	ENSG00000181143	ENST00000397910	T	0.31769	1.48	1.46	0.0316	0.14171	.	.	.	.	.	T	0.23054	0.0557	L	0.46157	1.445	.	.	.	P	0.50710	0.938	B	0.41202	0.35	T	0.26985	-1.0087	8	0.87932	D	0	.	4.5676	0.12195	0.0:0.0:0.4975:0.5025	.	6253	B5ME49	.	L	6253	ENSP00000381008:S6253L	ENSP00000381008:S6253L	S	-	2	0	MUC16	8929688	0.015000	0.18098	0.001000	0.08648	0.004000	0.04260	1.248000	0.32827	0.010000	0.14839	0.174000	0.16983	TCA	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	67	0.00	0	G	NM_024690		9068688	9068688	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	58	13.24	9	SNP	0.001	A
MYO7B	4648	genome.wustl.edu	37	2	128364902	128364902	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr2:128364902G>A	ENST00000409816.2	+	20	2578	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	MYO7B_ENST00000428314.1_Missense_Mutation_p.R849H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R849H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	849	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TACCTGGTGCGCCAGCAAGTC	0.652																																						dbGAP											0													17.0	23.0	21.0					2																	128364902		1960	3951	5911	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2546G>A	2.37:g.128364902G>A	ENSP00000386461:p.Arg849His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R849H	ENST00000409816.2	37	c.2546	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.442202	0.96187	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.77098	-1.07;-1.07;-1.07	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93070	0.6482	10	0.66056	D	0.02	.	19.6087	0.95589	0.0:0.0:1.0:0.0	.	849	Q6PIF6	MYO7B_HUMAN	H	849	ENSP00000374175:R849H;ENSP00000415090:R849H;ENSP00000386461:R849H	ENSP00000374175:R849H	R	+	2	0	MYO7B	128081372	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	9.381000	0.97205	2.629000	0.89072	0.563000	0.77884	CGC	MYO7B	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000169994		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	46	0.00	0	G	XM_291001		128364902	128364902	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	A
OPCML	4978	genome.wustl.edu	37	11	132527109	132527109	+	Silent	SNP	C	C	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr11:132527109C>A	ENST00000331898.7	-	2	851	c.273G>T	c.(271-273)ctG>ctT	p.L91L	OPCML_ENST00000541867.1_Silent_p.L91L|OPCML_ENST00000374778.4_Silent_p.L50L|OPCML_ENST00000524381.1_Silent_p.L84L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	91	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTGTATTGACCAGGATGATCA	0.517																																						dbGAP											0													240.0	177.0	198.0					11																	132527109		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.273G>T	11.37:g.132527109C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L91	ENST00000331898.7	37	c.273	CCDS8492.1	11																																																																																			OPCML	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000183715		0.517	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	94	0.00	0	C	NM_001012393		132527109	132527109	-1	no_errors	ENST00000541867	ensembl	human	known	69_37n	silent	90	15.09	16	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	49	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	G
PJA1	64219	genome.wustl.edu	37	X	68382137	68382137	+	Silent	SNP	G	G	C			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chrX:68382137G>C	ENST00000361478.1	-	2	1322	c.945C>G	c.(943-945)ggC>ggG	p.G315G	PJA1_ENST00000374571.4_Silent_p.G260G|PJA1_ENST00000374583.1_Silent_p.G315G|PJA1_ENST00000374584.3_Silent_p.G127G|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	315					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GCTCGGGATAGCCACTTGAAC	0.567																																						dbGAP											0													101.0	61.0	75.0					X																	68382137		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.945C>G	X.37:g.68382137G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G315	ENST00000361478.1	37	c.945	CCDS14393.1	X																																																																																			PJA1	-	NULL	ENSG00000181191		0.567	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	43	0.00	0	G	NM_145119		68382137	68382137	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	silent	28	39.13	18	SNP	0.003	C
RAB21	23011	genome.wustl.edu	37	12	72149064	72149064	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr12:72149064T>C	ENST00000261263.3	+	1	411	c.155T>C	c.(154-156)cTg>cCg	p.L52P		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	52					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						ATCACCACTCTGCAGGTGCGG	0.657																																						dbGAP											0													37.0	27.0	30.0					12																	72149064		2200	4297	6497	-	-	-	SO:0001583	missense	0			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.155T>C	12.37:g.72149064T>C	ENSP00000261263:p.Leu52Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14466|Q569H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L52P	ENST00000261263.3	37	c.155	CCDS9003.1	12	.	.	.	.	.	.	.	.	.	.	T	29.0	4.968619	0.92855	.	.	ENSG00000080371	ENST00000261263	T	0.78364	-1.17	4.29	4.29	0.51040	Small GTP-binding protein domain (1);	0.257769	0.33235	N	0.005136	D	0.85948	0.5816	M	0.70108	2.13	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	D	0.87798	0.2623	10	0.87932	D	0	0.295	13.5986	0.62004	0.0:0.0:0.0:1.0	.	52	Q9UL25	RAB21_HUMAN	P	52	ENSP00000261263:L52P	ENSP00000261263:L52P	L	+	2	0	RAB21	70435331	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.080000	0.76837	1.803000	0.52742	0.455000	0.32223	CTG	RAB21	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000080371		0.657	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB21	HGNC	protein_coding	OTTHUMT00000404855.1	22	0.00	0	T			72149064	72149064	+1	no_errors	ENST00000261263	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	C
RBBP6	5930	genome.wustl.edu	37	16	24560353	24560353	+	Intron	SNP	A	A	G			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr16:24560353A>G	ENST00000319715.4	+	3	735				RBBP6_ENST00000452655.2_Silent_p.L118L|RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6						embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTTACCTTTATAATGTAGCA	0.303																																						dbGAP											0													82.0	72.0	76.0					16																	24560353		2196	4298	6494	-	-	-	SO:0001627	intron_variant	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.303+51A>G	16.37:g.24560353A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain	p.L118	ENST00000319715.4	37	c.354	CCDS10621.1	16																																																																																			RBBP6	-	NULL	ENSG00000122257		0.303	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	113	0.00	0	A	NM_006910		24560353	24560353	+1	no_errors	ENST00000452655	ensembl	human	novel	69_37n	silent	150	10.71	18	SNP	0.993	G
RGPD3	653489	genome.wustl.edu	37	2	107029550	107029550	+	Silent	SNP	C	C	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr2:107029550C>T	ENST00000409886.3	-	22	5343	c.5256G>A	c.(5254-5256)gcG>gcA	p.A1752A	RGPD3_ENST00000304514.7_Silent_p.A1752A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1752	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTGAGCAACCGCAGCAAGTT	0.413																																						dbGAP											0													79.0	62.0	68.0					2																	107029550		692	1578	2270	-	-	-	SO:0001819	synonymous_variant	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5256G>A	2.37:g.107029550C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A1752	ENST00000409886.3	37	c.5256	CCDS46379.1	2																																																																																			RGPD3	-	smart_GRIP,pfscan_GRIP	ENSG00000153165		0.413	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	136	0.00	0	C	XM_929931		107029550	107029550	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	silent	105	26.06	37	SNP	0.997	T
RBM44	375316	genome.wustl.edu	37	2	238728887	238728887	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr2:238728887A>C	ENST00000409864.1	+	5	2063	c.1809A>C	c.(1807-1809)agA>agC	p.R603S	RBM44_ENST00000316997.4_Missense_Mutation_p.R603S|RBM44_ENST00000444524.2_3'UTR			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	602						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TAATGCAGAGAGCCATAAAAG	0.358																																						dbGAP											0													58.0	54.0	55.0					2																	238728887		1892	4119	6011	-	-	-	SO:0001583	missense	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1809A>C	2.37:g.238728887A>C	ENSP00000386727:p.Arg603Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R603S	ENST00000409864.1	37	c.1809	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873092	0.72180	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.57752	0.38;0.38	5.92	0.753	0.18404	.	0.000000	0.64402	D	0.000001	T	0.66694	0.2815	M	0.75447	2.3	0.37316	D	0.909339	D	0.89917	1.0	D	0.85130	0.997	T	0.68055	-0.5510	10	0.87932	D	0	-30.4532	8.2483	0.31702	0.6546:0.0:0.3454:0.0	.	602	Q6ZP01	RBM44_HUMAN	S	603	ENSP00000321179:R603S;ENSP00000386727:R603S	ENSP00000321179:R603S	R	+	3	2	RBM44	238393626	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	1.406000	0.34646	-0.089000	0.12484	0.383000	0.25322	AGA	RBM44	-	NULL	ENSG00000177483		0.358	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	71	0.00	0	A	NM_001080504		238728887	238728887	+1	no_errors	ENST00000316997	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	C
RHBDF1	64285	genome.wustl.edu	37	16	109808	109808	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr16:109808C>T	ENST00000262316.6	-	14	1881	c.1739G>A	c.(1738-1740)aGc>aAc	p.S580N		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	580					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTTCCCAGCGCTGTTTTTGGT	0.592																																						dbGAP											0													169.0	126.0	140.0					16																	109808		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1739G>A	16.37:g.109808C>T	ENSP00000262316:p.Ser580Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.S580N	ENST00000262316.6	37	c.1739	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	1.395	-0.579698	0.03854	.	.	ENSG00000007384	ENST00000262316	T	0.48836	0.8	5.37	4.4	0.53042	.	0.144837	0.64402	D	0.000008	T	0.26521	0.0648	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07177	-1.0786	10	0.09590	T	0.72	-15.4308	14.9711	0.71235	0.0:0.8566:0.1434:0.0	.	580	Q96CC6	RHDF1_HUMAN	N	580	ENSP00000262316:S580N	ENSP00000262316:S580N	S	-	2	0	RHBDF1	49808	1.000000	0.71417	0.772000	0.31596	0.865000	0.49528	3.828000	0.55753	1.240000	0.43803	0.650000	0.86243	AGC	RHBDF1	-	NULL	ENSG00000007384		0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	123	0.81	1	C	NM_022450		109808	109808	-1	no_errors	ENST00000262316	ensembl	human	known	69_37n	missense	153	32.60	74	SNP	0.998	T
SF3B1	23451	genome.wustl.edu	37	2	198267481	198267481	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr2:198267481T>C	ENST00000335508.6	-	14	1967	c.1876A>G	c.(1876-1878)Aac>Gac	p.N626D	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	626					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.N626Y(2)|p.N626D(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCTGTTGTGTTACGGACATAC	0.438			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											96.0	93.0	94.0					2																	198267481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1876A>G	2.37:g.198267481T>C	ENSP00000335321:p.Asn626Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.N626D	ENST00000335508.6	37	c.1876	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.098360	0.94197	.	.	ENSG00000115524	ENST00000335508	T	0.64803	-0.12	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90396	0.4399	10	0.87932	D	0	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	626	O75533	SF3B1_HUMAN	D	626	ENSP00000335321:N626D	ENSP00000335321:N626D	N	-	1	0	SF3B1	197975726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.222000	0.72286	0.533000	0.62120	AAC	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	63	0.00	0	T			198267481	198267481	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	39	27.27	15	SNP	1.000	C
TARS	6897	genome.wustl.edu	37	5	33457372	33457372	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr5:33457372C>T	ENST00000265112.3	+	9	1159	c.848C>T	c.(847-849)aCg>aTg	p.T283M	TARS_ENST00000502553.1_Missense_Mutation_p.T283M|TARS_ENST00000541634.1_Missense_Mutation_p.T179M|TARS_ENST00000455217.2_Missense_Mutation_p.T316M|TARS_ENST00000414361.2_Missense_Mutation_p.T162M	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	283					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AATTCCTCCACGTACTGGGAA	0.388																																						dbGAP											0													100.0	102.0	102.0					5																	33457372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.848C>T	5.37:g.33457372C>T	ENSP00000265112:p.Thr283Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.T283M	ENST00000265112.3	37	c.848	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844698	0.91197	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.43688	0.94;0.94;0.95	6.02	6.02	0.97574	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.76575	0.9;0.988;0.987;0.988	T	0.73585	-0.3936	10	0.87932	D	0	-0.1519	20.6011	0.99457	0.0:1.0:0.0:0.0	.	162;316;179;283	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	M	283;283;179;316;162	ENSP00000424387:T283M;ENSP00000265112:T283M;ENSP00000387710:T316M	ENSP00000265112:T283M	T	+	2	0	TARS	33493129	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.807000	0.86032	2.878000	0.98634	0.650000	0.86243	ACG	TARS	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.388	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	87	0.00	0	C	NM_152295		33457372	33457372	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	63	27.59	24	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31338429	31338429	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr15:31338429G>T	ENST00000256552.6	-	16	1919	c.1772C>A	c.(1771-1773)gCt>gAt	p.A591D	TRPM1_ENST00000542188.1_Missense_Mutation_p.A608D|TRPM1_ENST00000397795.2_Missense_Mutation_p.A569D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGTTTAAGAGCTTTAGGCTG	0.323																																						dbGAP											0													78.0	74.0	75.0					15																	31338429		1810	4083	5893	-	-	-	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1772C>A	15.37:g.31338429G>T	ENSP00000256552:p.Ala591Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.A608D	ENST00000256552.6	37	c.1823	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504385	0.85176	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74106	-0.81;-0.81;-0.81	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	L	0.53249	1.67	0.80722	D	1	P;P	0.49783	0.928;0.882	P;P	0.52909	0.713;0.601	T	0.82424	-0.0464	10	0.72032	D	0.01	-16.9172	18.6233	0.91328	0.0:0.0:1.0:0.0	.	563;569	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	569;608;591;569	ENSP00000380897:A569D;ENSP00000437849:A608D;ENSP00000256552:A591D	ENSP00000256552:A591D	A	-	2	0	TRPM1	29125721	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.647000	0.83462	2.405000	0.81733	0.557000	0.71058	GCT	TRPM1	-	NULL	ENSG00000134160		0.323	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	42	0.00	0	G	NM_002420		31338429	31338429	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
ZNF217	7764	genome.wustl.edu	37	20	52192684	52192684	+	Silent	SNP	G	G	A			TCGA-E9-A1R3-01A-31D-A14K-09	TCGA-E9-A1R3-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba6af877-7a23-4738-a867-01a5dd8a8050	841d08d8-8abb-410f-9907-d96af416aa1e	g.chr20:52192684G>A	ENST00000371471.2	-	4	3044	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	ZNF217_ENST00000302342.3_Silent_p.L873L|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	873					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACTGCTGCCGAGGGTGGGCT	0.517																																						dbGAP											0													85.0	79.0	81.0					20																	52192684		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2619C>T	20.37:g.52192684G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L873	ENST00000371471.2	37	c.2619	CCDS13443.1	20																																																																																			ZNF217	-	NULL	ENSG00000171940		0.517	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	31	0.00	0	G	NM_006526		52192684	52192684	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	silent	22	29.03	9	SNP	0.000	A
