#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
ALCAM	214	genome.wustl.edu	37	3	105238944	105238944	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr3:105238944G>A	ENST00000306107.5	+	2	607	c.107G>A	c.(106-108)gGa>gAa	p.G36E	ALCAM_ENST00000472644.2_Missense_Mutation_p.G36E|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_5'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	36	Ig-like V-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCAGCATATGGAGATACCATT	0.378																																						dbGAP											0													154.0	138.0	143.0					3																	105238944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.107G>A	3.37:g.105238944G>A	ENSP00000305988:p.Gly36Glu		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.G36E	ENST00000306107.5	37	c.107	CCDS33810.1	3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686323	0.88639	.	.	ENSG00000170017	ENST00000306107;ENST00000472644	T;T	0.81078	-1.45;-1.45	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89054	0.6606	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89363	0.3669	10	0.87932	D	0	-18.5454	19.7843	0.96430	0.0:0.0:1.0:0.0	.	36;36;36	B4DTU0;Q13740;Q6PEY4	.;CD166_HUMAN;.	E	36	ENSP00000305988:G36E;ENSP00000419236:G36E	ENSP00000305988:G36E	G	+	2	0	ALCAM	106721634	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.722000	0.74735	2.753000	0.94483	0.555000	0.69702	GGA	ALCAM	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000170017		0.378	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	60	0.00	0	G	NM_001627		105238944	105238944	+1	no_errors	ENST00000306107	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	A
ARHGEF10	9639	genome.wustl.edu	37	8	1833860	1833860	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr8:1833860T>C	ENST00000398564.1	+	11	1244	c.1244T>C	c.(1243-1245)tTa>tCa	p.L415S	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.L415S|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.L415S|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.L376S|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.L390S|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.L352S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	415					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCGAGGGTTTATCTCAGCAG	0.458																																						dbGAP											0													63.0	62.0	62.0					8																	1833860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1244T>C	8.37:g.1833860T>C	ENSP00000381571:p.Leu415Ser		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.L415S	ENST00000398564.1	37	c.1244		8	.	.	.	.	.	.	.	.	.	.	t	15.00	2.704223	0.48412	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.12	5.12	0.69794	Dbl homology (DH) domain (2);	0.000000	0.64402	D	0.000005	T	0.63426	0.2510	M	0.82823	2.61	0.29627	N	0.845779	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.993;0.999;0.997	T	0.66783	-0.5836	10	0.87932	D	0	-23.4234	14.9006	0.70675	0.0:0.0:0.0:1.0	.	415;376;352;390	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	S	390;352;415;376;415;415;63	ENSP00000340297:L390S;ENSP00000427909:L352S;ENSP00000431012:L415S;ENSP00000381568:L376S;ENSP00000381571:L415S;ENSP00000262112:L415S;ENSP00000427768:L63S	ENSP00000262112:L415S	L	+	2	0	ARHGEF10	1821267	0.929000	0.31497	0.015000	0.15790	0.331000	0.28603	6.528000	0.73807	1.916000	0.55485	0.533000	0.62120	TTA	ARHGEF10	-	superfamily_DH-domain	ENSG00000104728		0.458	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		40	0.00	0	T			1833860	1833860	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.261	C
ASIC3	9311	genome.wustl.edu	37	7	150746033	150746033	+	Missense_Mutation	SNP	G	G	A	rs374817631		TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr7:150746033G>A	ENST00000349064.5	+	1	259	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	ASIC3_ENST00000357922.4_Missense_Mutation_p.A21T|ASIC3_ENST00000297512.8_Missense_Mutation_p.A21T	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	21					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCGCGTGTTCGCCAGCAACTG	0.697																																						dbGAP											0													36.0	42.0	40.0					7																	150746033		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.61G>A	7.37:g.150746033G>A	ENSP00000344838:p.Ala21Thr		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.A21T	ENST00000349064.5	37	c.61	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051879	0.75960	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.64991	-0.13;-0.13;-0.13	4.9	4.9	0.64082	.	0.000000	0.33670	U	0.004663	T	0.81346	0.4803	M	0.87381	2.88	0.44439	D	0.99736	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.964;0.961;0.999	D	0.83410	0.0027	10	0.48119	T	0.1	-21.3476	15.9436	0.79776	0.0:0.0:1.0:0.0	.	21;21;21	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	T	21	ENSP00000350600:A21T;ENSP00000344838:A21T;ENSP00000297512:A21T	ENSP00000297512:A21T	A	+	1	0	ACCN3	150376966	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	6.364000	0.73086	2.439000	0.82584	0.455000	0.32223	GCC	ASIC3	-	pfam_Na+channel_ASC	ENSG00000213199		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	16	0.00	0	G	NM_004769		150746033	150746033	+1	no_errors	ENST00000297512	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	A
C8orf34	116328	genome.wustl.edu	37	8	69381036	69381036	+	Silent	SNP	C	C	G			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr8:69381036C>G	ENST00000539993.1	+	4	1008	c.459C>G	c.(457-459)gcC>gcG	p.A153A	C8orf34_ENST00000337103.4_Silent_p.A128A|C8orf34_ENST00000518698.1_Silent_p.A239A|C8orf34_ENST00000348340.2_Silent_p.A153A|C8orf34_ENST00000349492.3_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	153										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGGGAAAGCCCTTGAGAATC	0.403																																						dbGAP											0													81.0	76.0	78.0					8																	69381036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.459C>G	8.37:g.69381036C>G			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.A239	ENST00000539993.1	37	c.717		8																																																																																			C8orf34	-	NULL	ENSG00000165084		0.403	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		26	0.00	0	C	NM_052958		69381036	69381036	+1	no_errors	ENST00000518698	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	1.000	G
CDC123	8872	genome.wustl.edu	37	10	12259451	12259451	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr10:12259451G>A	ENST00000281141.4	+	6	705	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CDC123_ENST00000378900.2_Missense_Mutation_p.R142H|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	142					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTCATCACTCGTGACTTCACT	0.353																																						dbGAP											0													112.0	95.0	101.0					10																	12259451		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.425G>A	10.37:g.12259451G>A	ENSP00000281141:p.Arg142His		A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.R142H	ENST00000281141.4	37	c.425	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006590	0.07773	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050;ENST00000455773	.	.	.	4.98	3.08	0.35506	.	0.155329	0.64402	N	0.000014	T	0.08133	0.0203	N	0.00175	-1.925	0.39104	D	0.961332	B	0.02656	0.0	B	0.01281	0.0	T	0.33548	-0.9864	9	0.02654	T	1	-11.9465	7.7865	0.29095	0.2611:0.0:0.7389:0.0	.	142	O75794	CD123_HUMAN	H	110;142;142;110;100	.	ENSP00000281141:R142H	R	+	2	0	CDC123	12299457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.861000	0.48380	1.199000	0.43173	0.650000	0.86243	CGT	CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123	ENSG00000151465		0.353	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	36	0.00	0	G	NM_006023		12259451	12259451	+1	no_errors	ENST00000281141	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	A
DNM1P46	196968	genome.wustl.edu	37	15	100332919	100332919	+	RNA	SNP	T	T	C	rs2603217	byFrequency	TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr15:100332919T>C	ENST00000341853.1	-	0	1272				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)	p.D149D(1)									TGGGTGCTGATAAGCATGGTG	0.612																																						dbGAP											1	Substitution - coding silent(1)	stomach(1)											46.0	67.0	61.0					15																	100332919		876	1990	2866	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332919T>C			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.612	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	16	0.00	0	T	NR_003260		100332919	100332919	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	20	37.50	12	SNP	0.222	C
DSG1	1828	genome.wustl.edu	37	18	28934500	28934500	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr18:28934500G>A	ENST00000257192.4	+	15	2553	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E140K|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	781					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|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)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACAAAGCACTGAACCAGTTTG	0.478																																						dbGAP											0													104.0	98.0	100.0					18																	28934500		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2341G>A	18.37:g.28934500G>A	ENSP00000257192:p.Glu781Lys		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin	p.E781K	ENST00000257192.4	37	c.2341	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826747	0.32329	.	.	ENSG00000134760	ENST00000257192	T	0.57107	0.42	6.04	6.04	0.98038	.	0.080526	0.53938	D	0.000060	T	0.59770	0.2218	M	0.78049	2.395	0.48452	D	0.999659	P	0.44627	0.839	B	0.41917	0.37	T	0.58381	-0.7646	10	0.27082	T	0.32	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	781	Q02413	DSG1_HUMAN	K	781	ENSP00000257192:E781K	ENSP00000257192:E781K	E	+	1	0	DSG1	27188498	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	6.778000	0.75043	2.873000	0.98535	0.563000	0.77884	GAA	DSG1	-	NULL	ENSG00000134760		0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	50	0.00	0	G	NM_001942		28934500	28934500	+1	no_errors	ENST00000257192	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	1.000	A
FBXW8	26259	genome.wustl.edu	37	12	117448250	117448250	+	Silent	SNP	C	C	T			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr12:117448250C>T	ENST00000309909.5	+	8	1444	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	FBXW8_ENST00000455858.2_Silent_p.D388D			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	454					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCAACATGGACGGGAGGTACG	0.612																																						dbGAP											0													169.0	131.0	144.0					12																	117448250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1362C>T	12.37:g.117448250C>T			Q9UK95	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D454	ENST00000309909.5	37	c.1362	CCDS9182.1	12																																																																																			FBXW8	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174989		0.612	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	30	0.00	0	C	NM_012174		117448250	117448250	+1	no_errors	ENST00000309909	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	T
FILIP1L	11259	genome.wustl.edu	37	3	99568867	99568867	+	Silent	SNP	G	G	A	rs558970547		TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr3:99568867G>A	ENST00000354552.3	-	5	2123	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	FILIP1L_ENST00000383694.2_Silent_p.T311T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.T311T|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Silent_p.T551T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Silent_p.T127T	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	551						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTCTACATCGGTTTTGGACT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19448	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													104.0	92.0	95.0					3																	99568867		1859	4095	5954	-	-	-	SO:0001819	synonymous_variant	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1653C>T	3.37:g.99568867G>A			B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.T551	ENST00000354552.3	37	c.1653	CCDS43117.1	3																																																																																			FILIP1L	-	NULL	ENSG00000168386		0.383	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	51	0.00	0	G	NM_014890		99568867	99568867	-1	no_errors	ENST00000354552	ensembl	human	known	69_37n	silent	61	39.00	39	SNP	0.589	A
LGALS9	3965	genome.wustl.edu	37	17	25965319	25965319	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr17:25965319G>A	ENST00000395473.2	+	2	1538	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	LGALS9_ENST00000302228.5_Missense_Mutation_p.G24S|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.G24S|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.G24S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	24	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TATTCAAGGAGGTCTCCAGGA	0.562																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	dbGAP											0													7.0	7.0	7.0					17																	25965319		2069	4028	6097	-	-	-	SO:0001583	missense	0			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.70G>A	17.37:g.25965319G>A	ENSP00000378856:p.Gly24Ser		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.G24S	ENST00000395473.2	37	c.70	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097026	0.20552	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	3.46	2.49	0.30216	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063540	0.64402	D	0.000007	T	0.24547	0.0595	L	0.55743	1.74	0.35700	D	0.815558	D;P;P	0.54772	0.968;0.834;0.834	P;P;P	0.60415	0.874;0.671;0.671	T	0.16453	-1.0402	10	0.59425	D	0.04	.	8.7	0.34320	0.1157:0.0:0.8843:0.0	.	24;24;24	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	S	24	ENSP00000378856:G24S;ENSP00000306228:G24S;ENSP00000312259:G24S;ENSP00000318214:G24S	ENSP00000306228:G24S	G	+	1	0	LGALS9	22989446	1.000000	0.71417	0.223000	0.23860	0.035000	0.12851	3.856000	0.55964	0.692000	0.31613	-0.264000	0.10439	GGT	LGALS9	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000168961		0.562	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	37	0.00	0	G	NM_009587		25965319	25965319	+1	no_errors	ENST00000395473	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	0.383	A
MCF2L	23263	genome.wustl.edu	37	13	113750743	113750743	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr13:113750743G>A	ENST00000375608.3	+	29	3282	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	MCF2L_ENST00000434480.2_Missense_Mutation_p.R1051H|MCF2L_ENST00000375601.3_Missense_Mutation_p.R1049H|MCF2L_ENST00000535094.2_Missense_Mutation_p.R1045H|MCF2L_ENST00000375604.2_Missense_Mutation_p.R1102H|MCF2L_ENST00000421756.1_Missense_Mutation_p.R1049H|MCF2L_ENST00000442652.2_Missense_Mutation_p.R1075H|MCF2L_ENST00000423482.2_Missense_Mutation_p.R1043H|MCF2L_ENST00000397030.1_Missense_Mutation_p.R1078H			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1075	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GATGCGCTGCGCGTGAGGAGC	0.706																																						dbGAP											0													22.0	33.0	30.0					13																	113750743		1557	3575	5132	-	-	-	SO:0001583	missense	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3224G>A	13.37:g.113750743G>A	ENSP00000364758:p.Arg1075His		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R1102H	ENST00000375608.3	37	c.3305		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.159380|4.159380	0.78226|0.78226	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.34275	.|3.08;3.08;3.08;1.37;3.08;1.37;3.08;3.08;3.08	5.14|5.14	0.215|0.215	0.15253|0.15253	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.711891	.|0.13935	.|N	.|0.352601	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.24920	.|0.039;0.039;0.093;0.114	.|B;B;B;B	.|0.21917	.|0.013;0.013;0.021;0.037	T|T	0.25537|0.25537	-1.0129|-1.0129	5|10	.|0.15066	.|T	.|0.55	.|.	1.7497|1.7497	0.02970|0.02970	0.1278:0.3811:0.1243:0.3667|0.1278:0.3811:0.1243:0.3667	.|.	.|1043;1045;1102;1075	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	T|H	216;117|1075;1075;1102;1078;1045;1049;1049;1051;1043;886	.|ENSP00000364758:R1075H;ENSP00000401422:R1075H;ENSP00000364754:R1102H;ENSP00000380225:R1078H;ENSP00000440374:R1045H;ENSP00000397285:R1049H;ENSP00000364751:R1049H;ENSP00000407722:R1051H;ENSP00000405639:R1043H	.|ENSP00000364751:R1049H	A|R	+|+	1|2	0|0	MCF2L|MCF2L	112798744|112798744	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.623000|0.623000	0.24447|0.24447	-0.641000|-0.641000	0.05487|0.05487	-1.366000|-1.366000	0.01203|0.01203	GCG|CGC	MCF2L	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000126217		0.706	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	21	0.00	0	G			113750743	113750743	+1	no_errors	ENST00000375604	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	0.000	A
MED12	9968	genome.wustl.edu	37	X	70344921	70344921	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chrX:70344921G>T	ENST00000374080.3	+	15	2183	c.2151G>T	c.(2149-2151)aaG>aaT	p.K717N	MED12_ENST00000374102.1_Missense_Mutation_p.K717N|MED12_ENST00000333646.6_Missense_Mutation_p.K717N			Q93074	MED12_HUMAN	mediator complex subunit 12	717					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCAAGGAGAAGATTGAAGGGA	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													72.0	67.0	69.0					X																	70344921		1943	4130	6073	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2151G>T	X.37:g.70344921G>T	ENSP00000363193:p.Lys717Asn		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.K717N	ENST00000374080.3	37	c.2151	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	13.08	2.129683	0.37630	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	4.9	3.95	0.45737	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	M	0.63843	1.955	0.30440	N	0.776245	P;P;P;P	0.49559	0.713;0.925;0.877;0.899	P;P;P;P	0.57846	0.513;0.629;0.583;0.828	T	0.30504	-0.9976	10	0.17369	T	0.5	-19.9567	11.76	0.51896	0.156:0.0:0.844:0.0	.	717;564;717;717	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	717;717;717;717;685	ENSP00000333125:K717N;ENSP00000363215:K717N;ENSP00000363193:K717N;ENSP00000414203:K685N	ENSP00000333125:K717N	K	+	3	2	MED12	70261646	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	2.236000	0.43052	2.271000	0.75665	0.529000	0.55759	AAG	MED12	-	pfam_Mediator_Med12_LCEWAV	ENSG00000184634		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	30	0.00	0	G	NM_005120		70344921	70344921	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.966	T
NCL	4691	genome.wustl.edu	37	2	232320764	232320764	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr2:232320764G>A	ENST00000322723.4	-	12	2029	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	597	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATCCTTGCCCGAACGGAGCCG	0.488																																						dbGAP											0													83.0	78.0	80.0					2																	232320764		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1789C>T	2.37:g.232320764G>A	ENSP00000318195:p.Arg597Trp		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.R597W	ENST00000322723.4	37	c.1789	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518976	0.64634	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;D	0.86562	-0.96;-2.14	5.82	1.53	0.23141	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.525317	0.21851	N	0.068168	D	0.90892	0.7138	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.81406	-0.0947	10	0.72032	D	0.01	1.2556	3.978	0.09483	0.075:0.2159:0.4005:0.3086	.	597	P19338	NUCL_HUMAN	W	597;489;369;222	ENSP00000318195:R597W;ENSP00000349410:R222W	ENSP00000318195:R597W	R	-	1	2	NCL	232029008	0.040000	0.19996	0.002000	0.10522	0.976000	0.68499	1.663000	0.37429	0.340000	0.23745	0.551000	0.68910	CGG	NCL	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000115053		0.488	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	43	0.00	0	G	NM_005381		232320764	232320764	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	26	58.73	37	SNP	0.000	A
OR2T2	401992	genome.wustl.edu	37	1	248616749	248616749	+	Silent	SNP	C	C	G	rs151176830		TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr1:248616749C>G	ENST00000342927.3	+	1	673	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCTCTGTCTCCTACACGC	0.542																																						dbGAP											0													255.0	173.0	201.0					1																	248616749		2189	4267	6456	-	-	-	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.651C>G	1.37:g.248616749C>G			B2RNM1|B9EH01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V217	ENST00000342927.3	37	c.651	CCDS31116.1	1																																																																																			OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	36	0.00	0	C	NM_001004136		248616749	248616749	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	0.000	G
PGR	5241	genome.wustl.edu	37	11	100962590	100962590	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr11:100962590A>G	ENST00000325455.5	-	3	3260	c.1807T>C	c.(1807-1809)Tgt>Cgt	p.C603R	PGR_ENST00000534013.1_Missense_Mutation_p.C9R|PGR_ENST00000263463.5_Missense_Mutation_p.C603R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	603					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTTCCAGCACATAAGTAGTTG	0.403																																					Pancreas(124;2271 2354 21954 22882)	dbGAP											0													76.0	69.0	72.0					11																	100962590		2203	4299	6502	-	-	-	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1807T>C	11.37:g.100962590A>G	ENSP00000325120:p.Cys603Arg		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.C603R	ENST00000325455.5	37	c.1807	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223440	0.79464	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.99158	-5.5;-5.5;-5.5	5.81	5.81	0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98619	1.0666	10	0.87932	D	0	.	16.1708	0.81812	1.0:0.0:0.0:0.0	.	603;603	Q8TDS3;P06401	.;PRGR_HUMAN	R	603;9;603;603	ENSP00000325120:C603R;ENSP00000436561:C9R;ENSP00000263463:C603R	ENSP00000263463:C603R	C	-	1	0	PGR	100467800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.091000	0.94151	2.225000	0.72522	0.533000	0.62120	TGT	PGR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000082175		0.403	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	58	0.00	0	A			100962590	100962590	-1	no_errors	ENST00000325455	ensembl	human	known	69_37n	missense	12	85.37	70	SNP	1.000	G
POP1	10940	genome.wustl.edu	37	8	99168386	99168386	+	Nonsense_Mutation	SNP	C	C	G	rs199578844		TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr8:99168386C>G	ENST00000401707.2	+	15	2247	c.2166C>G	c.(2164-2166)taC>taG	p.Y722*	POP1_ENST00000349693.3_Nonsense_Mutation_p.Y722*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	722					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TCCAGGCTTACGAAGAACCTT	0.493																																						dbGAP											0													109.0	100.0	103.0					8																	99168386		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2166C>G	8.37:g.99168386C>G	ENSP00000385787:p.Tyr722*		A8K5W9|Q15037	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.Y722*	ENST00000401707.2	37	c.2166	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.245343	0.95272	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	.	.	.	5.56	-6.5	0.01884	.	0.818392	0.11550	N	0.552881	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0811	3.2013	0.06651	0.32:0.2036:0.3744:0.102	.	.	.	.	X	722	.	ENSP00000339529:Y722X	Y	+	3	2	POP1	99237562	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.890000	0.04140	-1.149000	0.02843	-2.177000	0.00319	TAC	POP1	-	NULL	ENSG00000104356		0.493	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1	32	0.00	0	C	NM_015029		99168386	99168386	+1	no_errors	ENST00000349693	ensembl	human	known	69_37n	nonsense	91	11.65	12	SNP	0.000	G
P2RY11	5032	genome.wustl.edu	37	19	10224638	10224638	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr19:10224638G>C	ENST00000321826.4	+	2	533	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.V537L|PPAN_ENST00000556468.1_Missense_Mutation_p.V537L|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	117					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GCTGGGCAGCGTCATCTTCAT	0.667											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	72.0	76.0					19																	10224638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.349G>C	19.37:g.10224638G>C	ENSP00000323872:p.Val117Leu	663	B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam	p.V537L	ENST00000321826.4	37	c.1609	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156724	0.57259	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.73363	-0.74;-0.74;-0.74	4.62	-0.658	0.11428	GPCR, rhodopsin-like superfamily (1);	0.347032	0.23650	U	0.045930	T	0.63896	0.2550	L	0.60904	1.88	0.23632	N	0.997246	P	0.39576	0.679	B	0.35114	0.196	T	0.58572	-0.7613	10	0.66056	D	0.02	-9.5121	8.559	0.33498	0.741:0.0:0.259:0.0	.	117	Q96G91	P2Y11_HUMAN	L	537;537;117	ENSP00000377385:V537L;ENSP00000450710:V537L;ENSP00000323872:V117L	ENSP00000323872:V117L	V	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10085638	0.396000	0.25262	0.002000	0.10522	0.940000	0.58332	0.465000	0.22004	-0.064000	0.13043	0.561000	0.74099	GTC	PPAN-P2RY11	-	pfam_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000243207		0.667	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316664.2	28	0.00	0	G	NM_002566		10224638	10224638	+1	no_errors	ENST00000393796	ensembl	human	known	69_37n	missense	7	70.83	17	SNP	0.879	C
PRUNE2	158471	genome.wustl.edu	37	9	79319916	79319916	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr9:79319916C>G	ENST00000376718.3	-	8	7397	c.7274G>C	c.(7273-7275)aGa>aCa	p.R2425T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R2066T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2425					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTGCTGCTCTGCATCCCAG	0.507											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													50.0	44.0	46.0					9																	79319916		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7274G>C	9.37:g.79319916C>G	ENSP00000365908:p.Arg2425Thr	1190	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R2066T	ENST00000376718.3	37	c.6197	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.444|2.444	-0.328026|-0.328026	0.05314|0.05314	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.42131	.|0.98;0.98	5.93|5.93	4.81|4.81	0.61882|0.61882	.|.	.|0.411113	.|0.23393	.|N	.|0.048662	T|T	0.27241|0.27241	0.0668|0.0668	N|N	0.22421|0.22421	0.69|0.69	0.21527|0.21527	N|N	0.999658|0.999658	.|B	.|0.23185	.|0.081	.|B	.|0.17722	.|0.019	T|T	0.20974|0.20974	-1.0259|-1.0259	5|10	.|0.66056	.|D	.|0.02	-3.5864|-3.5864	6.7368|6.7368	0.23413|0.23413	0.0:0.0803:0.1523:0.7674|0.0:0.0803:0.1523:0.7674	.|.	.|2425	.|Q8WUY3	.|PRUN2_HUMAN	H|T	1746|2425;2066;2424	.|ENSP00000365908:R2425T;ENSP00000397425:R2066T	.|ENSP00000365908:R2425T	Q|R	-|-	3|2	2|0	PRUNE2|PRUNE2	78509736|78509736	0.554000|0.554000	0.26522|0.26522	0.036000|0.036000	0.18154|0.18154	0.087000|0.087000	0.18053|0.18053	1.528000|1.528000	0.35985|0.35985	1.076000|1.076000	0.40961|0.40961	-0.302000|-0.302000	0.09304|0.09304	CAG|AGA	PRUNE2	-	NULL	ENSG00000106772		0.507	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	35	0.00	0	C	NM_138818		79319916	79319916	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	34	38.18	21	SNP	0.021	G
RTL1	388015	genome.wustl.edu	37	14	101349800	101349800	+	Silent	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr14:101349800G>A	ENST00000534062.1	-	1	1384	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	442					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCTCTTGGGCGAACTTCTCAT	0.597																																						dbGAP											0													32.0	31.0	31.0					14																	101349800		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1326C>T	14.37:g.101349800G>A			E9PKS8	Silent	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.F442	ENST00000534062.1	37	c.1326	CCDS53910.1	14																																																																																			RTL1	-	superfamily_Peptidase_aspartic	ENSG00000254656		0.597	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	25	0.00	0	G	NM_001134888		101349800	101349800	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	silent	20	37.50	12	SNP	0.595	A
SLC6A15	55117	genome.wustl.edu	37	12	85270296	85270296	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr12:85270296G>A	ENST00000266682.5	-	6	1388	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.R176C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	283					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACATGTGGCGAATGCCATCA	0.303																																						dbGAP											0													80.0	80.0	80.0					12																	85270296		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.847C>T	12.37:g.85270296G>A	ENSP00000266682:p.Arg283Cys		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	p.R283C	ENST00000266682.5	37	c.847	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212526	0.58452	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.75154	-0.91;-0.91	5.97	5.08	0.68730	.	0.148736	0.64402	D	0.000013	T	0.80675	0.4668	M	0.76433	2.335	0.80722	D	1	D	0.64830	0.994	P	0.51453	0.67	T	0.82380	-0.0486	10	0.49607	T	0.09	.	15.3918	0.74751	0.0668:0.0:0.9332:0.0	.	283	Q9H2J7	S6A15_HUMAN	C	283;176	ENSP00000266682:R283C;ENSP00000450145:R176C	ENSP00000266682:R283C	R	-	1	0	SLC6A15	83794427	1.000000	0.71417	0.996000	0.52242	0.384000	0.30261	5.302000	0.65733	1.529000	0.49120	0.655000	0.94253	CGC	SLC6A15	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000072041		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	32	0.00	0	G	NM_018057, NM_182767		85270296	85270296	-1	no_errors	ENST00000266682	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	A
TFPI2	7980	genome.wustl.edu	37	7	93519525	93519525	+	Silent	SNP	C	C	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr7:93519525C>A	ENST00000222543.5	-	2	507	c.195G>T	c.(193-195)ctG>ctT	p.L65L	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.L65L	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	65	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGCCCCCGTACAGGAACTGGC	0.607																																						dbGAP											0													36.0	39.0	38.0					7																	93519525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.195G>T	7.37:g.93519525C>A			Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L65	ENST00000222543.5	37	c.195	CCDS5632.1	7																																																																																			TFPI2	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000105825		0.607	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	35	0.00	0	C	NM_006528		93519525	93519525	-1	no_errors	ENST00000222543	ensembl	human	known	69_37n	silent	33	21.43	9	SNP	0.001	A
TNXB	7148	genome.wustl.edu	37	6	32029275	32029275	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr6:32029275A>G	ENST00000375244.3	-	21	7592	c.7391T>C	c.(7390-7392)gTc>gCc	p.V2464A	TNXB_ENST00000375247.2_Missense_Mutation_p.V2464A			P22105	TENX_HUMAN	tenascin XB	2524					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCACGGTGACCTCGCTCTC	0.697																																						dbGAP											0													72.0	84.0	80.0					6																	32029275		1253	2532	3785	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7391T>C	6.37:g.32029275A>G	ENSP00000364393:p.Val2464Ala		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V2464A	ENST00000375244.3	37	c.7391		6	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815829	0.32145	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58797	0.31;0.31	4.28	1.52	0.23074	.	0.120229	0.37348	N	0.002132	T	0.46014	0.1371	L	0.52206	1.635	0.22127	N	0.999347	D	0.76494	0.999	D	0.85130	0.997	T	0.41752	-0.9491	10	0.15499	T	0.54	.	7.1893	0.25816	0.8282:0.0:0.1718:0.0	.	2464	P22105-3	.	A	2464	ENSP00000364393:V2464A;ENSP00000364396:V2464A	ENSP00000364393:V2464A	V	-	2	0	TNXB	32137253	0.922000	0.31269	0.038000	0.18304	0.250000	0.25880	0.624000	0.24462	0.100000	0.17581	0.482000	0.46254	GTC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	35	0.00	0	A	NM_019105		32029275	32029275	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	0.718	G
TP53	7157	genome.wustl.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000420246.2_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACGCAAATTTCCTTCCACTCG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Deletion - In frame(1)|Complex - frameshift(1)	central_nervous_system(8)|biliary_tract(6)|large_intestine(5)|breast(5)|peritoneum(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|pancreas(1)											118.0	106.0	110.0					17																	7578253		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.596G>T	17.37:g.7578253C>A	ENSP00000269305:p.Gly199Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G199V	ENST00000269305.4	37	c.596	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317964	0.60524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052866	0.85682	D	0.000000	D	0.99792	0.9912	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.999;0.883;0.999;0.999;0.999;1.0	D	0.97102	0.9798	10	0.87932	D	0	-10.2871	16.7921	0.85592	0.0:1.0:0.0:0.0	.	160;199;199;106;199;199;199	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	199;199;199;199;199;199;188;106;67;106;67	ENSP00000410739:G199V;ENSP00000352610:G199V;ENSP00000269305:G199V;ENSP00000398846:G199V;ENSP00000391127:G199V;ENSP00000391478:G199V;ENSP00000425104:G67V;ENSP00000423862:G106V	ENSP00000269305:G199V	G	-	2	0	TP53	7518978	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	52	0.00	0	C	NM_000546		7578253	7578253	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	8	85.96	49	SNP	1.000	A
UGT1A10	54575	genome.wustl.edu	37	2	234545248	234545248	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr2:234545248A>T	ENST00000344644.5	+	1	149	c.80A>T	c.(79-81)aAg>aTg	p.K27M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.K27M	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	27					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GAGGCAGGGAAGCTGCTGGTA	0.587																																						dbGAP											0													100.0	91.0	94.0					2																	234545248		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.80A>T	2.37:g.234545248A>T	ENSP00000343838:p.Lys27Met		O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K27M	ENST00000344644.5	37	c.80	CCDS33403.1	2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055374	0.55325	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.65549	-0.16;-0.16	3.83	-2.91	0.05631	.	.	.	.	.	T	0.81578	0.4852	H	0.95187	3.635	0.24003	N	0.996201	D;D	0.89917	0.998;1.0	D;D	0.76071	0.964;0.987	T	0.72221	-0.4356	9	0.87932	D	0	.	9.3147	0.37926	0.5251:0.0:0.4749:0.0	.	27;27	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	M	27	ENSP00000343838:K27M;ENSP00000362544:K27M	ENSP00000343838:K27M	K	+	2	0	UGT1A10	234209987	0.997000	0.39634	0.966000	0.40874	0.765000	0.43378	1.814000	0.38972	-0.634000	0.05538	-0.463000	0.05309	AAG	UGT1A10	-	pfam_UDP_glucos_trans	ENSG00000242515		0.587	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	HGNC	protein_coding	OTTHUMT00000130986.1	70	0.00	0	A	NM_019075		234545248	234545248	+1	no_errors	ENST00000344644	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	0.999	T
UIMC1	51720	genome.wustl.edu	37	5	176396604	176396604	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A27A-01A-11D-A167-09	TCGA-C8-A27A-10B-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb	b3bbaa37-c5ad-44d8-aab3-78472e776a66	g.chr5:176396604T>C	ENST00000377227.4	-	5	593	c.461A>G	c.(460-462)gAa>gGa	p.E154G	UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Missense_Mutation_p.E154G|UIMC1_ENST00000511320.1_Missense_Mutation_p.E154G|UIMC1_ENST00000377219.2_Missense_Mutation_p.E154G			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	154	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACATGCCTTCAGTGAGCCC	0.517																																						dbGAP											0													145.0	130.0	135.0					5																	176396604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.461A>G	5.37:g.176396604T>C	ENSP00000366434:p.Glu154Gly		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	p.E154G	ENST00000377227.4	37	c.461	CCDS4408.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.36|13.36	2.214834|2.214834	0.39102|0.39102	.|.	.|.	ENSG00000087206|ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000509236|ENST00000323774	T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39|.	5.73|5.73	4.58|4.58	0.56647|0.56647	.|.	0.089541|.	0.48767|.	D|.	0.000162|.	T|T	0.35038|0.35038	0.0918|0.0918	L|L	0.47716|0.47716	1.5|1.5	0.35590|0.35590	D|D	0.807024|0.807024	B|P	0.31931|0.42518	0.347|0.782	B|B	0.31751|0.38712	0.135|0.28	T|T	0.44952|0.44952	-0.9294|-0.9294	10|8	0.45353|0.33141	T|T	0.12|0.24	-7.2264|-7.2264	4.0121|4.0121	0.09627|0.09627	0.0:0.1455:0.1988:0.6557|0.0:0.1455:0.1988:0.6557	.|.	154|30	Q96RL1|Q96RL1-4	UIMC1_HUMAN|.	G|E	154;154;154;154;76;154|30	ENSP00000366434:E154G;ENSP00000366425:E154G;ENSP00000421926:E154G;ENSP00000427480:E154G;ENSP00000423885:E154G|.	ENSP00000366425:E154G|ENSP00000314909:K30E	E|K	-|-	2|1	0|0	UIMC1|UIMC1	176329210|176329210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	2.049000|2.049000	0.41288|0.41288	2.181000|2.181000	0.69327|0.69327	0.459000|0.459000	0.35465|0.35465	GAA|AAG	UIMC1	-	NULL	ENSG00000087206		0.517	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UIMC1	HGNC	protein_coding	OTTHUMT00000253422.1	69	0.00	0	T	NM_016290		176396604	176396604	-1	no_errors	ENST00000377219	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	1.000	C
