#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_ORegAnno_bin	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
CD1E	913	genome.wustl.edu	37	1	158326377	158326377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr1:158326377C>T	ENST00000368167.3	+	5	1233	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q332*|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000444681.2_Nonsense_Mutation_p.Q233*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q242*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q143*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q143*|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368157.1_Nonsense_Mutation_p.Q88*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q242*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q277*|CD1E_ENST00000368154.1_Nonsense_Mutation_p.Q88*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.Q187*	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	332					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTAAAAAAACAGAGGTGAGC	0.378																																						dbGAP											0													89.0	80.0	83.0					1																	158326377		1827	4089	5916	-	-	-	SO:0001587	stop_gained	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.994C>T	1.37:g.158326377C>T	ENSP00000357149:p.Gln332*		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Nonsense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.Q332*	ENST00000368167.3	37	c.994	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413666	0.62511	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	.	.	.	4.61	4.61	0.57282	.	1.402150	0.04727	N	0.420363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0303	12.8092	0.57629	0.0:1.0:0.0:0.0	.	.	.	.	X	233;332;143;242;143;277;88;332;242;187;88	.	ENSP00000357136:Q88X	Q	+	1	0	CD1E	156593001	0.001000	0.12720	0.023000	0.16930	0.014000	0.08584	0.788000	0.26872	2.401000	0.81631	0.655000	0.94253	CAG	CD1E	-	NULL	ENSG00000158488		0.378	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	61	0.00	0	C	NM_030893		158326377	158326377	+1	no_errors	ENST00000368167	ensembl	human	known	69_37n	nonsense	54	19.40	13	SNP	0.011	T
CDYL	9425	genome.wustl.edu	37	6	4937916	4937916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr6:4937916C>T	ENST00000328908.5	+	6	1359	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	CDYL_ENST00000397588.3_Nonsense_Mutation_p.R356*|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Nonsense_Mutation_p.R224*|CDYL_ENST00000343762.5_Nonsense_Mutation_p.R224*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	410					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTATTTTATACGACGTCTGAC	0.443																																						dbGAP											0													102.0	100.0	100.0					6																	4937916		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1228C>T	6.37:g.4937916C>T	ENSP00000330512:p.Arg410*		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Nonsense_Mutation	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R410*	ENST00000328908.5	37	c.1228		6	.	.	.	.	.	.	.	.	.	.	C	42	9.622612	0.99221	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.5273	0.90976	0.0:1.0:0.0:0.0	.	.	.	.	X	410;136;356;224;224	.	ENSP00000330512:R410X	R	+	1	2	CDYL	4882915	0.998000	0.40836	0.996000	0.52242	0.844000	0.47949	3.822000	0.55708	2.684000	0.91462	0.585000	0.79938	CGA	CDYL	-	pfam_Crotonase_core	ENSG00000153046		0.443	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	51	0.00	0	C	NM_004824		4937916	4937916	+1	no_errors	ENST00000328908	ensembl	human	known	69_37n	nonsense	41	14.58	7	SNP	1.000	T
CEP192	55125	genome.wustl.edu	37	18	13055944	13055944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr18:13055944G>T	ENST00000325971.8	+	17	3160	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.E1119*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E644*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	523					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAAGCAACTGAAACTACTTC	0.358																																						dbGAP											0													62.0	60.0	61.0					18																	13055944		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1567G>T	18.37:g.13055944G>T	ENSP00000317156:p.Glu523*		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	NULL	p.E1119*	ENST00000325971.8	37	c.3355		18	.	.	.	.	.	.	.	.	.	.	G	34	5.378946	0.95945	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	4.41	3.54	0.40534	.	0.671673	0.13685	N	0.369940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-8.8504	7.7835	0.29078	0.0836:0.0:0.7563:0.1601	.	.	.	.	X	1119;523;523;644	.	ENSP00000317156:E523X	E	+	1	0	CEP192	13045944	0.601000	0.26907	0.053000	0.19242	0.133000	0.20885	2.380000	0.44327	0.984000	0.38629	0.563000	0.77884	GAA	CEP192	-	NULL	ENSG00000101639		0.358	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		27	0.00	0	G	NM_032142		13055944	13055944	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	nonsense	17	15.00	3	SNP	0.046	T
DENND1A	57706	genome.wustl.edu	37	9	126554879	126554879	+	Missense_Mutation	SNP	T	T	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr9:126554879T>A	ENST00000373624.2	-	3	320	c.119A>T	c.(118-120)gAc>gTc	p.D40V	DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.D40V|DENND1A_ENST00000373618.1_Missense_Mutation_p.T25S|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	40	UDENN.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTCACTGTAGTCCTCCGGGAA	0.348																																						dbGAP											0													72.0	72.0	72.0					9																	126554879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.119A>T	9.37:g.126554879T>A	ENSP00000362727:p.Asp40Val		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D40V	ENST00000373624.2	37	c.119	CCDS35133.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.459|7.459	0.644261|0.644261	0.14451|0.14451	.|.	.|.	ENSG00000119522|ENSG00000119522	ENST00000373624;ENST00000373620|ENST00000373618	T;T|T	0.48522|0.07327	0.81;0.81|3.2	5.78|5.78	5.78|5.78	0.91487|0.91487	uDENN (3);|.	0.110364|.	0.64402|.	D|.	0.000007|.	T|T	0.13286|0.13286	0.0322|0.0322	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	B;P|B	0.47409|0.32101	0.435;0.895|0.356	P;D|B	0.63033|0.30572	0.594;0.91|0.117	T|T	0.01245|0.01245	-1.1407|-1.1407	10|9	0.62326|0.52906	D|T	0.03|0.07	-23.7899|-23.7899	11.2051|11.2051	0.48765|0.48765	0.0:0.0731:0.0:0.9269|0.0:0.0731:0.0:0.9269	.|.	40;40|25	Q8TEH3-2;Q8TEH3|Q8TEH3-4	.;DEN1A_HUMAN|.	V|S	40|25	ENSP00000362727:D40V;ENSP00000362722:D40V|ENSP00000362720:T25S	ENSP00000362722:D40V|ENSP00000362720:T25S	D|T	-|-	2|1	0|0	DENND1A|DENND1A	125594700|125594700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.673000|4.673000	0.61604|0.61604	2.214000|2.214000	0.71695|0.71695	0.528000|0.528000	0.53228|0.53228	GAC|ACT	DENND1A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000119522		0.348	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	45	0.00	0	T	NM_024820		126554879	126554879	-1	no_errors	ENST00000373624	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	A
DSG2	1829	genome.wustl.edu	37	18	29098201	29098201	+	Splice_Site	SNP	G	G	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr18:29098201G>T	ENST00000261590.8	+	2	254		c.e2-1		DSG2_ENST00000585206.1_Splice_Site	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2						apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTATTTTACAGATCTGCTTTA	0.348																																						dbGAP											0													97.0	93.0	94.0					18																	29098201		1824	4082	5906	-	-	-	SO:0001630	splice_region_variant	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.46-1G>T	18.37:g.29098201G>T			Q4KKU6	Splice_Site	SNP	-	e2-1	ENST00000261590.8	37	c.46-1	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410516	0.62399	.	.	ENSG00000046604	ENST00000261590	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5679	0.87926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG2	27352199	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.045000	0.71020	2.518000	0.84900	0.555000	0.69702	.	DSG2	-	-	ENSG00000046604		0.348	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	52	0.00	0	G	NM_001943	Intron	29098201	29098201	+1	no_errors	ENST00000261590	ensembl	human	known	69_37n	splice_site	32	11.11	4	SNP	1.000	T
EGFL8	80864	genome.wustl.edu	37	6	32135279	32135279	+	Splice_Site	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr6:32135279G>A	ENST00000395512.1	+	8	786		c.e8-1		EGFL8_ENST00000333845.6_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTCCTTTCTAGTGGGCCGGTC	0.682																																						dbGAP											0													61.0	69.0	66.0					6																	32135279		1508	2709	4217	-	-	-	SO:0001630	splice_region_variant	0			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.682-1G>A	6.37:g.32135279G>A			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Splice_Site	SNP	-	e10-1	ENST00000395512.1	37	c.906-1	CCDS4743.1	6	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201691	0.38905	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0819	0.72122	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGFL8	32243257	1.000000	0.71417	0.996000	0.52242	0.264000	0.26372	3.740000	0.55082	2.645000	0.89757	0.491000	0.48974	.	XXbac-BPG300A18.12	-	-	ENSG00000258388		0.682	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	Clone_based_vega_gene	protein_coding	OTTHUMT00000076463.3	10	0.00	0	G	NM_030652	Intron	32135279	32135279	+1	no_errors	ENST00000422437	ensembl	human	known	69_37n	splice_site	11	26.67	4	SNP	1.000	A
FAT1	2195	genome.wustl.edu	37	4	187541477	187541477	+	Missense_Mutation	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr4:187541477G>A	ENST00000441802.2	-	10	6472	c.6263C>T	c.(6262-6264)gCc>gTc	p.A2088V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2088	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTAACAACGGCGTAGTAGGG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													170.0	163.0	166.0					4																	187541477		1984	4148	6132	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6263C>T	4.37:g.187541477G>A	ENSP00000406229:p.Ala2088Val			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.A2088V	ENST00000441802.2	37	c.6263	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517275	0.64634	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01871	4.59	5.1	5.1	0.69264	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51020	-0.8758	10	0.21540	T	0.41	.	18.7073	0.91643	0.0:0.0:1.0:0.0	.	2088	Q14517	FAT1_HUMAN	V	2088;2090	ENSP00000406229:A2088V	ENSP00000260147:A2090V	A	-	2	0	FAT1	187778471	1.000000	0.71417	0.161000	0.22692	0.175000	0.22909	9.657000	0.98554	2.653000	0.90120	0.563000	0.77884	GCC	FAT1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000083857		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	53	0.00	0	G	NM_005245		187541477	187541477	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	A
FOXA1	3169	genome.wustl.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657																																						dbGAP											2	Substitution - Missense(2)	lung(2)											96.0	88.0	91.0					14																	38061461		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.528C>G	14.37:g.38061461G>C	ENSP00000250448:p.Ile176Met		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I176M	ENST00000250448.2	37	c.528	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179477	0.57800	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95656	-3.77;-3.77	3.88	0.91	0.19337	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.81497	2.545	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.95547	0.8617	10	0.87932	D	0	.	8.7702	0.34728	0.2749:0.0:0.7251:0.0	.	176	P55317	FOXA1_HUMAN	M	176;143	ENSP00000250448:I176M;ENSP00000440178:I143M	ENSP00000250448:I176M	I	-	3	3	FOXA1	37131212	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	2.158000	0.42329	0.318000	0.23185	0.505000	0.49811	ATC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.657	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	93	0.00	0	G			38061461	38061461	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	C
GLP1R	2740	genome.wustl.edu	37	6	39033993	39033993	+	Silent	SNP	C	C	G	rs144733551	byFrequency	TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr6:39033993C>G	ENST00000373256.4	+	5	466	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	141					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGGAGCAGCTCCTGTTCCTCT	0.597																																						dbGAP											0													139.0	102.0	115.0					6																	39033993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.423C>G	6.37:g.39033993C>G			Q2M229|Q99669	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.L141	ENST00000373256.4	37	c.423	CCDS4839.1	6																																																																																			GLP1R	-	prints_GPCR_2_GLP1_rcpt	ENSG00000112164		0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	67	0.00	0	C			39033993	39033993	+1	no_errors	ENST00000373256	ensembl	human	known	69_37n	silent	51	32.00	24	SNP	0.998	G
GRIK1	2897	genome.wustl.edu	37	21	31066223	31066223	+	Missense_Mutation	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr21:31066223G>A	ENST00000399907.1	-	2	689	c.278C>T	c.(277-279)tCg>tTg	p.S93L	GRIK1_ENST00000399914.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389124.2_Missense_Mutation_p.S93L|GRIK1_ENST00000309434.7_Missense_Mutation_p.S93L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S93L|GRIK1_ENST00000327783.4_Missense_Mutation_p.S93L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S93L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S93L|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	93					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ACCTCTCCGCGAGGCTTCAAA	0.423																																						dbGAP											0													120.0	116.0	117.0					21																	31066223		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.278C>T	21.37:g.31066223G>A	ENSP00000382791:p.Ser93Leu		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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.S93L	ENST00000399907.1	37	c.278	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.197641	0.94997	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.986;0.997	P;P;P;P	0.51945	0.685;0.685;0.595;0.46	T	0.42447	-0.9451	10	0.87932	D	0	.	18.3733	0.90420	0.0:0.0:1.0:0.0	.	93;93;93;93	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	L	93	ENSP00000327687:S93L;ENSP00000373777:S93L;ENSP00000382797:S93L;ENSP00000382798:S93L;ENSP00000446326:S93L;ENSP00000373776:S93L;ENSP00000382791:S93L;ENSP00000382793:S93L;ENSP00000311646:S93L	ENSP00000311646:S93L	S	-	2	0	GRIK1	29988094	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	9.549000	0.98106	2.669000	0.90835	0.655000	0.94253	TCG	GRIK1	-	pfam_ANF_lig-bd_rcpt	ENSG00000171189		0.423	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	36	0.00	0	G			31066223	31066223	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	A
KIF4A	24137	genome.wustl.edu	37	X	69615826	69615826	+	Missense_Mutation	SNP	C	C	T	rs200516198		TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chrX:69615826C>T	ENST00000374403.3	+	22	2498	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C|RNY4P23_ENST00000364507.1_RNA	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	806	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398													C|||	1	0.000264901	0.0	0.0	3775	,	,		13713	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													73.0	63.0	67.0					X																	69615826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2416C>T	X.37:g.69615826C>T	ENSP00000363524:p.Arg806Cys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R806C	ENST00000374403.3	37	c.2416	CCDS14401.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.236	0.411750	0.11812	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69806	-0.43;-0.37	4.78	3.92	0.45320	.	0.641178	0.13965	N	0.350586	T	0.35682	0.0940	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	.	.	.	.	7.9061	0.29763	0.0:0.886:0.0:0.114	.	806	O95239	KIF4A_HUMAN	C	806;806;108	ENSP00000363509:R806C;ENSP00000363524:R806C	.	R	+	1	0	KIF4A	69532551	0.999000	0.42202	0.001000	0.08648	0.223000	0.24884	3.801000	0.55545	1.133000	0.42147	0.594000	0.82650	CGT	KIF4A	-	NULL	ENSG00000090889		0.398	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	52	0.00	0	C	NM_012310		69615826	69615826	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.017	T
LINC00200	399706	genome.wustl.edu	37	10	1205784	1205784	+	lincRNA	SNP	G	G	A	rs12762051		TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr10:1205784G>A	ENST00000425630.1	+	0	77					NR_015376.2				long intergenic non-protein coding RNA 200																		ATGAGGGATGGCGCCGGCGCA	0.662																																						dbGAP											0													19.0	23.0	22.0					10																	1205784		692	1591	2283	-	-	-			0			AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205784G>A				RNA	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			LINC00200	-	-	ENSG00000229205		0.662	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	53	0.00	0	G	NR_015376		1205784	1205784	+1	no_errors	ENST00000425630	ensembl	human	known	69_37n	rna	33	13.16	5	SNP	0.008	A
MAP3K1	4214	genome.wustl.edu	37	5	56168740	56168740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr5:56168740C>T	ENST00000399503.3	+	9	1594	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	532					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R369*(1)|p.R532*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGCTGGATCACGAAGGAATCA	0.458																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											79.0	75.0	77.0					5																	56168740		1882	4104	5986	-	-	-	SO:0001587	stop_gained	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1594C>T	5.37:g.56168740C>T	ENSP00000382423:p.Arg532*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R532*	ENST00000399503.3	37	c.1594	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.921236	0.97936	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.97	5.97	0.96955	.	0.060770	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	.	.	.	X	532	.	ENSP00000382423:R532X	R	+	1	2	MAP3K1	56204497	1.000000	0.71417	0.882000	0.34594	0.951000	0.60555	6.268000	0.72552	2.834000	0.97654	0.650000	0.86243	CGA	MAP3K1	-	NULL	ENSG00000095015		0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	35	0.00	0	C	XM_042066		56168740	56168740	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	nonsense	21	30.00	9	SNP	0.998	T
MDN1	23195	genome.wustl.edu	37	6	90371925	90371925	+	Missense_Mutation	SNP	A	A	C			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr6:90371925A>C	ENST00000369393.3	-	87	14561	c.14446T>G	c.(14446-14448)Ttg>Gtg	p.L4816V	MDN1_ENST00000428876.1_Missense_Mutation_p.L4816V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4816					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCACTATCCAAGTTGTCATCT	0.383																																						dbGAP											0													190.0	173.0	179.0					6																	90371925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14446T>G	6.37:g.90371925A>C	ENSP00000358400:p.Leu4816Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L4816V	ENST00000369393.3	37	c.14446	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	A	5.190	0.220644	0.09863	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.62	0.468	0.16732	.	0.179987	0.37577	N	0.002038	T	0.01156	0.0038	L	0.58101	1.795	0.30019	N	0.814482	B	0.13145	0.007	B	0.10450	0.005	T	0.44097	-0.9350	10	0.30078	T	0.28	.	2.6477	0.04990	0.5244:0.1121:0.2545:0.1089	.	4816	Q9NU22	MDN1_HUMAN	V	4816	ENSP00000358400:L4816V;ENSP00000413970:L4816V	ENSP00000358400:L4816V	L	-	1	2	MDN1	90428646	0.720000	0.27996	0.938000	0.37757	0.268000	0.26511	-0.014000	0.12656	0.491000	0.27793	-0.386000	0.06593	TTG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	52	0.00	0	A			90371925	90371925	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.978	C
OR10J1	26476	genome.wustl.edu	37	1	159409829	159409829	+	Missense_Mutation	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr1:159409829C>T	ENST00000423932.3	+	1	318	c.281C>T	c.(280-282)tCc>tTc	p.S94F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	94					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGAATGCTCTCCAGCCTCGTA	0.468																																						dbGAP											0													107.0	94.0	98.0					1																	159409829		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.281C>T	1.37:g.159409829C>T	ENSP00000399078:p.Ser94Phe		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S94F	ENST00000423932.3	37	c.281	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102644	0.01828	.	.	ENSG00000196184	ENST00000423932	T	0.00406	7.55	4.48	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.615053	0.13545	N	0.379883	T	0.00073	0.0002	L	0.33668	1.02	0.09310	N	1	B	0.15719	0.014	B	0.23852	0.049	T	0.23226	-1.0194	10	0.18710	T	0.47	.	3.5878	0.07977	0.1606:0.4364:0.3127:0.0903	.	94	P30954	O10J1_HUMAN	F	94	ENSP00000399078:S94F	ENSP00000399078:S94F	S	+	2	0	OR10J1	157676453	0.000000	0.05858	0.728000	0.30774	0.699000	0.40488	-0.080000	0.11339	0.191000	0.20236	-0.136000	0.14681	TCC	OR10J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196184		0.468	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	83	0.00	0	C	NM_012351		159409829	159409829	+1	no_errors	ENST00000423932	ensembl	human	known	69_37n	missense	69	21.59	19	SNP	0.012	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	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		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	19	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	G
PTCD2	79810	genome.wustl.edu	37	5	71654103	71654103	+	Missense_Mutation	SNP	T	T	C			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr5:71654103T>C	ENST00000380639.5	+	10	1032	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	PTCD2_ENST00000536805.1_Missense_Mutation_p.L167P|PTCD2_ENST00000503868.1_Missense_Mutation_p.L230P|PTCD2_ENST00000460837.2_3'UTR|CTC-365E16.1_ENST00000606310.1_lincRNA	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	339					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TATGGGACACTGCACATCACT	0.483																																						dbGAP											0													100.0	84.0	89.0					5																	71654103		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.1016T>C	5.37:g.71654103T>C	ENSP00000370013:p.Leu339Pro		B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat	p.L339P	ENST00000380639.5	37	c.1016	CCDS4014.2	5	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538455	0.45176	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	T	0.68622	0.3021	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.71978	-0.4429	10	0.54805	T	0.06	.	12.011	0.53286	0.0:0.0:0.0:1.0	.	230;167;339	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	P	339;230;168;167	ENSP00000370013:L339P;ENSP00000427349:L230P;ENSP00000426295:L168P;ENSP00000444772:L167P	ENSP00000308948:L339P	L	+	2	0	PTCD2	71689859	1.000000	0.71417	0.980000	0.43619	0.091000	0.18340	4.190000	0.58365	2.094000	0.63399	0.459000	0.35465	CTG	PTCD2	-	NULL	ENSG00000049883		0.483	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD2	HGNC	protein_coding	OTTHUMT00000218562.6	29	0.00	0	T	NM_024754		71654103	71654103	+1	no_errors	ENST00000308077	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.960	C
QRICH1	54870	genome.wustl.edu	37	3	49084617	49084617	+	Silent	SNP	A	A	G			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr3:49084617A>G	ENST00000395443.2	-	4	1873	c.1401T>C	c.(1399-1401)ctT>ctC	p.L467L	QRICH1_ENST00000424300.1_Silent_p.L467L|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Silent_p.L467L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	467						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTGGAAGCAGAAGTTCTGGGG	0.448																																						dbGAP											0													102.0	105.0	104.0					3																	49084617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1401T>C	3.37:g.49084617A>G			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_DUF3504,superfamily_DEATH-like	p.L467	ENST00000395443.2	37	c.1401	CCDS2787.1	3																																																																																			QRICH1	-	NULL	ENSG00000198218		0.448	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	51	0.00	0	A	NM_017730		49084617	49084617	-1	no_errors	ENST00000357496	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.998	G
RGS7	6000	genome.wustl.edu	37	1	240990425	240990425	+	Missense_Mutation	SNP	T	T	G			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr1:240990425T>G	ENST00000407727.1	-	9	656	c.657A>C	c.(655-657)agA>agC	p.R219S	RGS7_ENST00000366563.1_Missense_Mutation_p.R219S|RGS7_ENST00000446183.2_Missense_Mutation_p.R135S|RGS7_ENST00000366564.1_Missense_Mutation_p.R219S|RGS7_ENST00000331110.7_Missense_Mutation_p.R193S|RGS7_ENST00000366565.1_Missense_Mutation_p.R219S|RGS7_ENST00000348120.2_Missense_Mutation_p.R166S|RGS7_ENST00000366562.4_Missense_Mutation_p.R219S|RGS7_ENST00000401882.1_Missense_Mutation_p.R166S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	219					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGTTTCTCATTCTGGATGACT	0.403																																						dbGAP											0													186.0	152.0	164.0					1																	240990425		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.657A>C	1.37:g.240990425T>G	ENSP00000384428:p.Arg219Ser		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R219S	ENST00000407727.1	37	c.657		1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294245	0.81025	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.39592	1.31;1.29;1.29;1.3;1.07;1.36;1.28;1.29;1.28;1.36	5.56	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.77820	2.39	0.58432	D	0.999995	P;P;P;D;P;P;P	0.57257	0.761;0.599;0.881;0.979;0.721;0.57;0.81	B;B;P;P;P;B;B	0.58721	0.434;0.284;0.614;0.844;0.476;0.205;0.41	T	0.53906	-0.8372	10	0.87932	D	0	-17.8798	6.4144	0.21708	0.0:0.2522:0.0:0.7478	.	135;193;166;219;219;219;219	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	S	193;219;219;219;50;166;135;219;219;166	ENSP00000331485:R193S;ENSP00000355523:R219S;ENSP00000355522:R219S;ENSP00000355521:R219S;ENSP00000404399:R50S;ENSP00000341242:R166S;ENSP00000390138:R135S;ENSP00000355520:R219S;ENSP00000384428:R219S;ENSP00000385508:R166S	ENSP00000331485:R193S	R	-	3	2	RGS7	239057048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.407000	0.34657	0.273000	0.22049	0.533000	0.62120	AGA	RGS7	-	NULL	ENSG00000182901		0.403	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		68	0.00	0	T	NM_002924		240990425	240990425	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	missense	70	21.35	19	SNP	1.000	G
RIC8B	55188	genome.wustl.edu	37	12	107236511	107236511	+	Missense_Mutation	SNP	G	G	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr12:107236511G>T	ENST00000392839.2	+	5	1087	c.981G>T	c.(979-981)ttG>ttT	p.L327F	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.L287F|RIC8B_ENST00000392837.4_Missense_Mutation_p.L327F	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	327					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AAACAGTTTTGAAAAACAATA	0.368																																						dbGAP											0													113.0	112.0	113.0					12																	107236511		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.981G>T	12.37:g.107236511G>T	ENSP00000376583:p.Leu327Phe		A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L327F	ENST00000392839.2	37	c.981	CCDS9109.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.011404|3.011404	0.54468|0.54468	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	.|.	.|.	.|.	5.51|5.51	3.67|3.67	0.42095|0.42095	Armadillo-type fold (1);|.	0.311695|.	0.31554|.	N|.	0.007453|.	T|.	0.37865|.	0.1019|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;D|.	0.69078|.	0.358;0.411;0.997|.	B;B;D|.	0.81914|.	0.157;0.305;0.995|.	T|.	0.10497|.	-1.0627|.	9|.	0.49607|.	T|.	0.09|.	-2.9323|-2.9323	4.806|4.806	0.13321|0.13321	0.2894:0.1539:0.5568:0.0|0.2894:0.1539:0.5568:0.0	.|.	287;327;327|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	F|L	327;327;287|152	.|.	ENSP00000347662:L287F|.	L|X	+|+	3|2	2|2	RIC8B|RIC8B	105760641|105760641	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.983000|0.983000	0.72400|0.72400	1.035000|1.035000	0.30216|0.30216	0.694000|0.694000	0.31654|0.31654	-0.140000|-0.140000	0.14226|0.14226	TTG|TGA	RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold	ENSG00000111785		0.368	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	33	0.00	0	G	NM_018157		107236511	107236511	+1	no_errors	ENST00000392837	ensembl	human	known	69_37n	missense	23	11.54	3	SNP	1.000	T
RNF126P1	376412	genome.wustl.edu	37	17	55123115	55123115	+	RNA	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr17:55123115G>A	ENST00000567452.1	+	0	277					NR_002818.2				ring finger protein 126 pseudogene 1																		GCAGGGCTACGGACAGTTTGC	0.637																																						dbGAP											0																																										-	-	-			0			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123115G>A				RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-	ENSG00000261192		0.637	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	65	0.00	0	G			55123115	55123115	+1	no_errors	ENST00000567452	ensembl	human	known	69_37n	rna	25	19.35	6	SNP	0.991	A
SEC14L6	730005	genome.wustl.edu	37	22	30928606	30928606	+	Missense_Mutation	SNP	C	C	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr22:30928606C>A	ENST00000402034.2	-	5	328	c.329G>T	c.(328-330)gGc>gTc	p.G110V		NM_001193336.2	NP_001180265.2	B5MCN3	S14L6_HUMAN	SEC14-like 6 (S. cerevisiae)	110	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			lung(3)	3						GAGCAAGAGGCCTTTGGGGTC	0.602																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54518.1	22q12.2	2011-05-06			ENSG00000214491	ENSG00000214491			40047	protein-coding gene	gene with protein product							Standard	NM_001193336		Approved		uc021wnu.1	B5MCN3	OTTHUMG00000151267	ENST00000402034.2:c.329G>T	22.37:g.30928606C>A	ENSP00000385695:p.Gly110Val			Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.G110V	ENST00000402034.2	37	c.329	CCDS54518.1	22	.	.	.	.	.	.	.	.	.	.	.	17.31	3.357876	0.61403	.	.	ENSG00000214491	ENST00000402034	T	0.26957	1.7	3.37	2.33	0.28932	.	.	.	.	.	T	0.58466	0.2124	H	0.96208	3.785	0.80722	D	1	.	.	.	.	.	.	T	0.68849	-0.5300	7	0.87932	D	0	-22.0538	10.7908	0.46432	0.0:0.9002:0.0:0.0998	.	.	.	.	V	110	ENSP00000385695:G110V	ENSP00000385695:G110V	G	-	2	0	SEC14L6	29258606	1.000000	0.71417	0.028000	0.17463	0.056000	0.15407	7.012000	0.76366	0.691000	0.31592	0.430000	0.28490	GGC	SEC14L6	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000214491		0.602	SEC14L6-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	SEC14L6	HGNC	protein_coding	OTTHUMT00000322022.2	28	0.00	0	C			30928606	30928606	-1	no_errors	ENST00000402034	ensembl	human	novel	69_37n	missense	21	22.22	6	SNP	0.998	A
KIAA1875	340390	genome.wustl.edu	37	8	145162933	145162933	+	Intron	SNP	G	G	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr8:145162933G>T	ENST00000323662.8	+	2	137							A6NE52	K1875_HUMAN	KIAA1875											large_intestine(1)	1						GAGGCTGTAGGTGGCAGAACT	0.627																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.113-29G>T	8.37:g.145162933G>T			Q96JF2	RNA	SNP	-	NULL	ENST00000323662.8	37	NULL		8																																																																																			SHARPIN	-	-	ENSG00000179526		0.627	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382917.1	50	0.00	0	G	NM_032529		145162933	145162933	-1	no_errors	ENST00000533184	ensembl	human	known	69_37n	rna	36	16.28	7	SNP	0.039	T
POR	5447	genome.wustl.edu	37	7	75573208	75573208	+	Intron	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr7:75573208C>T	ENST00000461988.1	+	2	101				POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|SNORA14A_ENST00000364773.1_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TCCTGTGGCTCAGTCTTATTT	0.408																																						dbGAP											0													139.0	136.0	137.0					7																	75573208		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.-4-10099C>T	7.37:g.75573208C>T			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			SNORA14A	-	-	ENSG00000201643		0.408	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA14A	HGNC	protein_coding	OTTHUMT00000252796.7	33	0.00	0	C	NM_000941		75573208	75573208	+1	no_errors	ENST00000364773	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	0.542	T
SPEF2	79925	genome.wustl.edu	37	5	35654760	35654760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr5:35654760C>T	ENST00000356031.3	+	7	1064	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.R304*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.R304*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.R304*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	304					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTTTTGCACGAGAGCAAAG	0.403																																						dbGAP											0													82.0	82.0	82.0					5																	35654760		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.910C>T	5.37:g.35654760C>T	ENSP00000348314:p.Arg304*		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.R304*	ENST00000356031.3	37	c.910	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397064	0.83120	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	.	.	.	5.72	3.88	0.44766	.	0.065703	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4824	0.67592	0.4007:0.5993:0.0:0.0	.	.	.	.	X	304	.	ENSP00000282469:R304X	R	+	1	2	SPEF2	35690517	0.909000	0.30893	1.000000	0.80357	0.988000	0.76386	0.816000	0.27267	0.703000	0.31848	0.655000	0.94253	CGA	SPEF2	-	NULL	ENSG00000152582		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	26	0.00	0	C	NM_144722		35654760	35654760	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	nonsense	27	12.90	4	SNP	1.000	T
TMEM106C	79022	genome.wustl.edu	37	12	48360468	48360468	+	Silent	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr12:48360468G>A	ENST00000429772.2	+	6	668	c.555G>A	c.(553-555)gtG>gtA	p.V185V	TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Silent_p.V114V|TMEM106C_ENST00000550552.1_Silent_p.V166V|TMEM106C_ENST00000552561.1_Silent_p.V185V|TMEM106C_ENST00000256686.6_Silent_p.V166V|TMEM106C_ENST00000449758.2_Silent_p.V166V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	185						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ATTTTCAGGTGAATTTTACCG	0.453																																						dbGAP											0													158.0	150.0	153.0					12																	48360468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.555G>A	12.37:g.48360468G>A			B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.E53K	ENST00000429772.2	37	c.157	CCDS8758.1	12	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188799	0.38609	.	.	ENSG00000134291	ENST00000547682	.	.	.	4.2	3.28	0.37604	.	.	.	.	.	T	0.67692	0.2920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	-0.0025	13.4436	0.61127	0.0:0.1595:0.8405:0.0	.	.	.	.	K	53	.	.	E	+	1	0	TMEM106C	46646735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	1.335000	0.45486	0.655000	0.94253	GAA	TMEM106C	-	pfam_DUF1356_TMEM106	ENSG00000134291		0.453	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	HGNC	protein_coding	OTTHUMT00000406452.1	36	0.00	0	G	NM_024056		48360468	48360468	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000547682	ensembl	human	putative	69_37n	missense	33	15.38	6	SNP	1.000	A
TPSB2	64499	genome.wustl.edu	37	16	1279438	1279438	+	RNA	SNP	C	C	T	rs202041848	byFrequency	TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr16:1279438C>T	ENST00000339687.6	-	0	275				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				ACCCTGAGGGCGGCCAGATCC	0.667													C|||	1791	0.357628	0.267	0.2853	5008	,	,		12166	0.5149		0.3469	False		,,,				2504	0.3804					dbGAP											0													2.0	2.0	2.0					16																	1279438		1068	2864	3932	-	-	-			0			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279438C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A85T	ENST00000339687.6	37	c.253		16	.	.	.	.	.	.	.	.	.	.	C	3.062	-0.193122	0.06259	.	.	ENSG00000197253	ENST00000430512	D	0.88975	-2.45	3.7	-6.35	0.01975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.192380	0.02106	N	0.054344	T	0.71719	0.3373	.	.	.	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.65286	-0.6205	8	0.13470	T	0.59	.	0.1285	0.00071	0.2587:0.2665:0.1762:0.2985	.	85	P20231	TRYB2_HUMAN	T	85	ENSP00000412409:A85T	ENSP00000412409:A85T	A	-	1	0	TPSB2	1219439	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.877000	0.00344	-1.596000	0.01611	-0.448000	0.05591	GCC	TPSB2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000197253		0.667	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	9	0.00	0	C	NM_024164		1279438	1279438	-1	no_errors	ENST00000430512	ensembl	human	known	69_37n	missense	1	75.00	3	SNP	0.000	T
TRIM3	10612	genome.wustl.edu	37	11	6477810	6477810	+	Missense_Mutation	SNP	C	C	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr11:6477810C>A	ENST00000525074.1	-	6	1540	c.1146G>T	c.(1144-1146)aaG>aaT	p.K382N	TRIM3_ENST00000536344.1_Missense_Mutation_p.K263N|TRIM3_ENST00000359518.3_Missense_Mutation_p.K382N|TRIM3_ENST00000345851.3_Missense_Mutation_p.K382N|TRIM3_ENST00000537602.1_Missense_Mutation_p.K304N|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	382					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGCCATTCTTGTGGTCCA	0.667																																					Melanoma(6;5 510 1540 25169 29084)	dbGAP											0													31.0	29.0	30.0					11																	6477810		2197	4286	6483	-	-	-	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1146G>T	11.37:g.6477810C>A	ENSP00000433102:p.Lys382Asn		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.K382N	ENST00000525074.1	37	c.1146	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002814	0.54254	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.13	3.2	0.36748	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.132318	0.64402	N	0.000002	D	0.83538	0.5276	L	0.44542	1.39	0.49582	D	0.999803	P;P;P	0.48407	0.68;0.91;0.85	P;P;P	0.58391	0.465;0.838;0.652	T	0.77267	-0.2651	10	0.19147	T	0.46	-15.2947	4.3599	0.11197	0.0:0.5243:0.2002:0.2755	.	263;263;382	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	N	382;382;382;382;371;304;382;263	ENSP00000433102:K382N;ENSP00000340797:K382N;ENSP00000441091:K304N;ENSP00000352508:K382N;ENSP00000445460:K263N	ENSP00000337094:K371N	K	-	3	2	TRIM3	6434386	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	0.618000	0.24373	0.518000	0.28383	0.563000	0.77884	AAG	TRIM3	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000110171		0.667	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	21	0.00	0	C	NM_006458		6477810	6477810	-1	no_errors	ENST00000345851	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	1.000	A
TRIM55	84675	genome.wustl.edu	37	8	67049371	67049371	+	Silent	SNP	C	C	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr8:67049371C>T	ENST00000315962.4	+	4	922	c.549C>T	c.(547-549)aaC>aaT	p.N183N	TRIM55_ENST00000276573.7_Silent_p.N183N|TRIM55_ENST00000350034.4_Silent_p.N183N|TRIM55_ENST00000353317.5_Silent_p.N183N	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	183					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGGCAGCAACGATCGAGTCC	0.537																																						dbGAP											0													108.0	89.0	95.0					8																	67049371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.549C>T	8.37:g.67049371C>T			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.N183	ENST00000315962.4	37	c.549	CCDS6184.1	8																																																																																			TRIM55	-	NULL	ENSG00000147573		0.537	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	43	0.00	0	C	NM_184085		67049371	67049371	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.834	T
UNC45A	55898	genome.wustl.edu	37	15	91496400	91496400	+	Missense_Mutation	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr15:91496400G>A	ENST00000418476.2	+	19	2477	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	RCCD1_ENST00000394258.2_5'Flank|RCCD1_ENST00000556618.1_5'Flank|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_5'Flank|UNC45A_ENST00000394275.2_Missense_Mutation_p.E798K	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	813					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGACCTCTTCGAAGCCCAGGG	0.607																																						dbGAP											0													74.0	79.0	77.0					15																	91496400		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.2437G>A	15.37:g.91496400G>A	ENSP00000407487:p.Glu813Lys		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E813K	ENST00000418476.2	37	c.2437	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	g	16.09	3.024605	0.54683	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.48836	0.8;0.8	5.63	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.104634	0.64402	D	0.000003	T	0.36331	0.0963	L	0.59436	1.845	0.37578	D	0.919694	B;B	0.24920	0.114;0.114	B;B	0.17979	0.02;0.02	T	0.19844	-1.0293	10	0.07030	T	0.85	-9.7908	8.539	0.33382	0.0:0.2858:0.5911:0.1231	.	813;798	Q9H3U1;A8K6F7	UN45A_HUMAN;.	K	798;813	ENSP00000377816:E798K;ENSP00000407487:E813K	ENSP00000377816:E798K	E	+	1	0	UNC45A	89297404	0.857000	0.29778	0.999000	0.59377	0.887000	0.51463	1.240000	0.32731	2.667000	0.90743	0.645000	0.84053	GAA	UNC45A	-	superfamily_ARM-type_fold	ENSG00000140553		0.607	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	28	0.00	0	G	NM_018671		91496400	91496400	+1	no_errors	ENST00000418476	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	A
UROC1	131669	genome.wustl.edu	37	3	126224610	126224610	+	Silent	SNP	G	G	A			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chr3:126224610G>A	ENST00000290868.2	-	8	800	c.747C>T	c.(745-747)ctC>ctT	p.L249L	UROC1_ENST00000383579.3_Silent_p.L249L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	249					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCATTCCGCCGAGCCCAGAGG	0.637																																						dbGAP											0													74.0	63.0	67.0					3																	126224610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.747C>T	3.37:g.126224610G>A			E9PE13|Q14C64|Q68CJ7	Silent	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.L249	ENST00000290868.2	37	c.747	CCDS3038.1	3																																																																																			UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	ENSG00000159650		0.637	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	57	0.00	0	G	NM_144639		126224610	126224610	-1	no_errors	ENST00000290868	ensembl	human	known	69_37n	silent	47	14.55	8	SNP	0.687	A
ZXDB	158586	genome.wustl.edu	37	X	57619454	57619455	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OK-A5Q2-01A-11D-A27P-09	TCGA-OK-A5Q2-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	02b5a2c4-832d-4c8b-b4f2-be0566eb6677	2edb9fb8-7415-47ba-a52b-95925bfa3677	g.chrX:57619454_57619455insT	ENST00000374888.1	+	1	1186_1187	c.973_974insT	c.(973-975)ctgfs	p.L325fs		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	325	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAAGAGGCACCTGCAGTCGCAC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.974dupT	X.37:g.57619455_57619455dupT	ENSP00000364023:p.Leu325fs		A8K151|Q9UBB3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q326fs	ENST00000374888.1	37	c.973_974	CCDS35313.1	X																																																																																			ZXDB	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198455		0.624	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	64	0.00	0	-	NM_007157		57619454	57619455	+1	no_errors	ENST00000374888	ensembl	human	known	69_37n	frame_shift_ins	49	15.52	9	INS	1.000:1.000	T
