#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AMY2B	280	genome.wustl.edu	37	1	104114862	104114862	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:104114862G>C	ENST00000361355.4	+	4	915	c.299G>C	c.(298-300)aGa>aCa	p.R100T	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	100					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGGTGACTAGATGTAACAAT	0.363																																																	0													121.0	127.0	125.0					1																	104114862		2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.299G>C	1.37:g.104114862G>C	ENSP00000354610:p.Arg100Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R100T	ENST00000361355.4	37	c.299	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502512	0.85176	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99901	1.1161	10	0.87932	D	0	.	17.5357	0.87830	0.0:0.0:1.0:0.0	.	100	P19961	AMY2B_HUMAN	T	100	ENSP00000354610:R100T	ENSP00000354610:R100T	R	+	2	0	AMY2B	103916385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.531000	0.98054	2.105000	0.64084	0.460000	0.39030	AGA	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	G	NM_020978		104114862	+1	no_errors	ENST00000361355	ensembl	human	known	70_37	missense	SNP	1.000	C
ARL15	54622	genome.wustl.edu	37	5	53181043	53181044	+	3'UTR	INS	-	-	T	rs140007319|rs556350514	byFrequency	TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr5:53181043_53181044insT	ENST00000504924.1	-	0	2055_2056				ARL15_ENST00000510591.2_5'Flank|ARL15_ENST00000502271.1_3'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15						small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GCAGGGAGCAGTTTTTTTTATC	0.317													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	229	0.0457268	0.0318	0.0749	5008	,	,		18184	0.001		0.1004	False		,,,				2504	0.0337																0																																										SO:0001624	3_prime_UTR_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.*1348->A	5.37:g.53181051_53181051dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAD0	RNA	INS	-	NULL	ENST00000504924.1	37	NULL	CCDS54850.1	5																																																																																			ARL15	-	-		0.317	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	-	NM_019087		53181044	-1	no_errors	ENST00000502271	ensembl	human	known	70_37	rna	INS	0.030:0.013	T
ASPM	259266	genome.wustl.edu	37	1	197072216	197072216	+	Silent	SNP	T	T	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:197072216T>C	ENST00000367409.4	-	18	6421	c.6165A>G	c.(6163-6165)agA>agG	p.R2055R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2055	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTGTAAGCTCTGTATTTAG	0.348																																																	0													100.0	106.0	104.0					1																	197072216		2202	4296	6498	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6165A>G	1.37:g.197072216T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2055	ENST00000367409.4	37	c.6165	CCDS1389.1	1																																																																																			ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	T	NM_018136		197072216	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.108	C
BCAT2	587	genome.wustl.edu	37	19	49300457	49300457	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:49300457C>T	ENST00000316273.6	-	7	841	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	BCAT2_ENST00000545387.2_Missense_Mutation_p.E185K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E277K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E237K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E237K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E185K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	277					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CCCCCATCTTCGTGGGTCCAG	0.607																																																	0													58.0	48.0	52.0					19																	49300457		2203	4300	6503	SO:0001583	missense	587			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.829G>A	19.37:g.49300457C>T	ENSP00000322991:p.Glu277Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.E277K	ENST00000316273.6	37	c.829	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341015	0.41498	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.22134	1.97;1.97;1.97	5.06	0.514	0.17007	Aminotransferase, class IV, conserved site (1);	0.406531	0.28236	N	0.016089	T	0.11367	0.0277	N	0.20328	0.56	0.54753	D	0.999984	B;B;B;B	0.23891	0.093;0.007;0.005;0.043	B;B;B;B	0.23716	0.048;0.02;0.006;0.033	T	0.17868	-1.0355	10	0.20519	T	0.43	-4.9789	9.397	0.38408	0.0:0.675:0.0:0.325	.	237;277;185;277	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	277;185;237	ENSP00000322991:E277K;ENSP00000440973:E185K;ENSP00000385161:E237K	ENSP00000322991:E277K	E	-	1	0	BCAT2	53992269	0.018000	0.18449	0.994000	0.49952	0.871000	0.50021	0.242000	0.18087	0.273000	0.22049	-0.658000	0.03865	GAA	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	C			49300457	-1	no_errors	ENST00000316273	ensembl	human	known	70_37	missense	SNP	0.769	T
CCDC92	80212	genome.wustl.edu	37	12	124421823	124421823	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:124421823C>G	ENST00000238156.3	-	5	1132	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.E243Q|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.E243Q|DNAH10OS_ENST00000514254.2_5'Flank	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	260						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGGGGCCTCTCTTTGATGAGG	0.652																																																	0													32.0	39.0	36.0					12																	124421823		2203	4300	6503	SO:0001583	missense	80212			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.778G>C	12.37:g.124421823C>G	ENSP00000238156:p.Glu260Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.E260Q	ENST00000238156.3	37	c.778	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260423	0.80246	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.29655	1.56;1.58;1.58	5.43	5.43	0.79202	.	0.238958	0.42964	D	0.000627	T	0.42607	0.1210	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.61658	0.892	T	0.14783	-1.0460	10	0.38643	T	0.18	0.0012	19.2469	0.93905	0.0:1.0:0.0:0.0	.	260	Q53HC0	CCD92_HUMAN	Q	260;243;243	ENSP00000238156:E260Q;ENSP00000439526:E243Q;ENSP00000440024:E243Q	ENSP00000238156:E260Q	E	-	1	0	CCDC92	122987776	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.605000	0.61119	2.555000	0.86185	0.505000	0.49811	GAG	CCDC92	-	NULL		0.652	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	C	NM_025140		124421823	-1	no_errors	ENST00000238156	ensembl	human	known	70_37	missense	SNP	1.000	G
CREB3L3	84699	genome.wustl.edu	37	19	4157158	4157158	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:4157158C>T	ENST00000078445.2	+	3	470	c.323C>T	c.(322-324)aCc>aTc	p.T108I	CREB3L3_ENST00000602257.1_Missense_Mutation_p.T108I|CREB3L3_ENST00000252587.3_Missense_Mutation_p.T98I|CREB3L3_ENST00000595923.1_Missense_Mutation_p.T107I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.T108I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	108					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCAGCCACCTCCCCCGCC	0.677																																																	0													56.0	56.0	56.0					19																	4157158		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.323C>T	19.37:g.4157158C>T	ENSP00000078445:p.Thr108Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T108I	ENST00000078445.2	37	c.323	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553360	0.27739	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.76578	-1.03;-1.03	4.83	-0.825	0.10809	.	1.121610	0.06793	N	0.787403	T	0.57036	0.2026	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27416	0.032;0.019;0.178;0.112	B;B;B;B	0.24541	0.025;0.007;0.054;0.024	T	0.40664	-0.9551	10	0.36615	T	0.2	-6.2412	3.402	0.07327	0.3677:0.3912:0.0:0.2411	.	108;108;107;108	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	I	108;108;98	ENSP00000078445:T108I;ENSP00000252587:T98I	ENSP00000078445:T108I	T	+	2	0	CREB3L3	4108158	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.214000	0.09292	-0.362000	0.08113	0.430000	0.28490	ACC	CREB3L3	-	NULL		0.677	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	C	NM_032607		4157158	+1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	0.000	T
FAR2P1	440905	genome.wustl.edu	37	2	130748038	130748038	+	IGR	SNP	G	G	A	rs531510527		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:130748038G>A								RAB6C (7727 upstream) : AC018865.8 (36379 downstream)																							AAGGCCTTGCGGTAGGTGCAA	0.493													.|||	1	0.000199681	0.0	0.0	5008	,	,		18117	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	646802																															2.37:g.130748038G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			AC018865.8	-	-	0	0.493					CYP4F43P	Clone_based_vega_gene			G			130748038	-1	no_errors	ENST00000440931	ensembl	human	known	70_37	rna	SNP	1.000	A
DEPDC5	9681	genome.wustl.edu	37	22	32302364	32302364	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr22:32302364G>A	ENST00000382112.3	+	42	4736	c.4666G>A	c.(4666-4668)Gat>Aat	p.D1556N	DEPDC5_ENST00000535622.1_Missense_Mutation_p.D1465N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D1543N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D1534N|DEPDC5_ENST00000382111.2_Silent_p.G1544G|DEPDC5_ENST00000400248.2_Missense_Mutation_p.D1534N|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.D382N|DEPDC5_ENST00000400246.1_Silent_p.G1544G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1565					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGCCACAGGGGATGAAAAGTT	0.557																																																	0													124.0	130.0	128.0					22																	32302364		2050	4204	6254	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4666G>A	22.37:g.32302364G>A	ENSP00000371546:p.Asp1556Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.D1543N	ENST00000382112.3	37	c.4627	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.338834|4.338834	0.81911|0.81911	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T|T	0.41065|0.35605	1.01;1.46;1.46;1.46;1.46|1.3	4.97|4.97	3.96|3.96	0.45880|0.45880	.|.	0.229359|.	0.33834|.	N|.	0.004512|.	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.35341|0.35341	1.055|1.055	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.69078|.	0.997;0.997;0.996;0.997;0.993|.	D;D;D;D;D|.	0.79784|.	0.989;0.98;0.993;0.989;0.984|.	T|T	0.23476|0.23476	-1.0187|-1.0187	10|7	0.28530|0.52906	T|T	0.3|0.07	.|.	12.6961|12.6961	0.57005|0.57005	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	1565;1465;1543;1556;1534|.	B9EGN9;B4DH93;O75140-4;A8MPX9;O75140|.	.;.;.;.;DEPD5_HUMAN|.	N|E	1465;1543;1534;1465;1556;1534;382|940	ENSP00000440210:D1465N;ENSP00000266091:D1543N;ENSP00000383108:D1534N;ENSP00000371546:D1556N;ENSP00000383107:D1534N|ENSP00000410544:G940E	ENSP00000266091:D1543N|ENSP00000410544:G940E	D|G	+|+	1|2	0|0	DEPDC5|DEPDC5	30632364|30632364	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.950000|0.950000	0.60333|0.60333	9.427000|9.427000	0.97472|0.97472	1.251000|1.251000	0.43983|0.43983	0.448000|0.448000	0.29417|0.29417	GAT|GGA	DEPDC5	-	NULL		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	G	NM_014662		32302364	+1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	0.991	A
TMEM218	219854	genome.wustl.edu	37	11	124984040	124984040	+	5'Flank	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr11:124984040C>T	ENST00000279968.4	-	0	0				TMEM218_ENST00000527766.1_5'Flank|TMEM218_ENST00000527271.1_5'Flank|TMEM218_ENST00000529609.1_5'Flank|TMEM218_ENST00000529583.1_5'Flank|TMEM218_ENST00000531909.1_5'Flank|TMEM218_ENST00000526175.1_5'Flank|KRT18P59_ENST00000534728.1_RNA|TMEM218_ENST00000532407.1_5'Flank|TMEM218_ENST00000531262.1_5'Flank|TMEM218_ENST00000532156.1_5'Flank			A2RU14	TM218_HUMAN	transmembrane protein 218							integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						ACTGATGACACCAATGTCACT	0.502																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS31715.1	11q24.2	2008-08-08			ENSG00000150433	ENSG00000150433			27344	protein-coding gene	gene with protein product							Standard	NM_001258238		Approved		uc031qeu.1	A2RU14			11.37:g.124984040C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM48	RNA	SNP	-	NULL	ENST00000279968.4	37	NULL	CCDS31715.1	11																																																																																			RP11-687M24.3	-	-		0.502	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000187686	Clone_based_vega_gene	protein_coding	OTTHUMT00000386849.1	C	NM_001080546		124984040	+1	no_errors	ENST00000534728	ensembl	human	known	70_37	rna	SNP	1.000	T
MT-ND5	4540	genome.wustl.edu	37	M	12280	12280	+	5'Flank	SNP	A	A	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chrM:12280A>G	ENST00000361567.2	+	0	0				MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TTTAAAGGATAACAGCTATCC	0.423																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915			M.37:g.12280A>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	RNA	SNP	-	NULL	ENST00000361567.2	37	NULL		MT																																																																																			J01415.19	-	-		0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210191	Clone_based_ensembl_gene	protein_coding		A	YP_003024036		12280	+1	no_errors	ENST00000387456	ensembl	human	novel	70_37	rna	SNP	NULL	G
RP11-764K9.1	0	genome.wustl.edu	37	9	68401351	68401351	+	lincRNA	SNP	C	C	T	rs79623382		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr9:68401351C>T	ENST00000417843.2	-	0	468																											ATAAATGGCTCATGCAGTATA	0.383																																																	0																																												0																															9.37:g.68401351C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.383	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	C			68401351	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	SNP	0.073	T
CFAP46	54777	genome.wustl.edu	37	10	134759255	134759255	+	5'Flank	SNP	C	C	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr10:134759255C>A	ENST00000368585.3	-	0	0				RP13-137A17.4_ENST00000443633.1_lincRNA																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGAAAGGGGGCTGGGCTGGAA	0.597																																																	0													33.0	39.0	37.0					10																	134759255		692	1591	2283	SO:0001631	upstream_gene_variant	0																															10.37:g.134759255C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000368585.3	37	NULL		10																																																																																			RP13-137A17.4	-	-		0.597	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	ENSG00000232903	Clone_based_vega_gene	protein_coding	OTTHUMT00000051099.1	C			134759255	-1	no_errors	ENST00000443633	ensembl	human	putative	70_37	rna	SNP	0.135	A
LOC101927648	101927648	genome.wustl.edu	37	1	143403424	143403424	+	lincRNA	SNP	G	G	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:143403424G>C	ENST00000423249.1	-	0	59																											AGGGACACCAGACCAACATCC	0.527																																																	0																																												0																															1.37:g.143403424G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			BX004987.5	-	-		0.527	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037552.1	G			143403424	+1	no_errors	ENST00000433980	ensembl	human	known	70_37	rna	SNP	0.998	C
RP11-652G5.1	0	genome.wustl.edu	37	16	32617194	32617194	+	RNA	SNP	G	G	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr16:32617194G>C	ENST00000562976.1	+	0	383																											CATTTGTATAGAGGAAGGTGC	0.448																																																	0																																												0																															16.37:g.32617194G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			RP11-652G5.1	-	-		0.448	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	G			32617194	+1	no_errors	ENST00000566952	ensembl	human	known	70_37	rna	SNP	0.001	C
AC097493.1	0	genome.wustl.edu	37	4	9601972	9601972	+	RNA	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr4:9601972C>T	ENST00000459267.2	-	0	79																											taattcacctcaaagtgtggc	0.512																																																	0																																												0																															4.37:g.9601972C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000459267.2	37	NULL		4																																																																																			AC097493.1	-	-		0.512	AC097493.1-201	NOVEL	basic	miRNA	ENSG00000265901	Clone_based_ensembl_gene	miRNA		C			9601972	-1	no_errors	ENST00000459267	ensembl	human	novel	70_37	rna	SNP	0.357	T
KANTR	102723508	genome.wustl.edu	37	X	53172259	53172259	+	lincRNA	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chrX:53172259G>A	ENST00000604849.1	+	0	822				AL139396.1_ENST00000578198.1_RNA																							CTTCATGATGGAGTTGAAGGT	0.562																																																	0																																												0																															X.37:g.53172259G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604849.1	37	NULL		X																																																																																			AL139396.1	-	-		0.562	RP11-258C19.5-002	KNOWN	basic	lincRNA	ENSG00000266700	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000468382.1	G			53172259	-1	no_errors	ENST00000578198	ensembl	human	novel	70_37	rna	SNP	1.000	A
AC018630.1	0	genome.wustl.edu	37	12	11187132	11187133	+	In_Frame_Ins	INS	-	-	TTG	rs371394829		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:11187132_11187133insTTG	ENST00000601123.1	+	1	46_47	c.46_47insTTG	c.(46-48)tct>tTTGct	p.16_16S>FA	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron																							attattattttctaaacattca	0.277																																																	0																																										SO:0001652	inframe_insertion	0																														Exception_encountered	12.37:g.11187132_11187133insTTG	ENSP00000473087:p.Ser16delinsPheAla	Somatic		WXS	Illumina HiSeq	Phase_IV		In_Frame_Ins	INS	NULL	p.S16in_frame_insFA	ENST00000601123.1	37	c.46_47		12																																																																																			AC018630.1	-	NULL		0.277	AC018630.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268301	Clone_based_ensembl_gene	protein_coding		-			11187133	+1	no_errors	ENST00000601123	ensembl	human	novel	70_37	in_frame_ins	INS	0.012:0.013	TTG
AC018630.1	0	genome.wustl.edu	37	12	11187133	11187134	+	Frame_Shift_Ins	INS	-	-	AG	rs371394829		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:11187133_11187134insAG	ENST00000601123.1	+	1	47_48	c.47_48insAG	c.(46-51)tctaaafs	p.K17fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron																							ttattattttctaaacattcat	0.282																																																	0																																										SO:0001589	frameshift_variant	0																														Exception_encountered	12.37:g.11187133_11187134insAG	ENSP00000473087:p.Lys17fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	NULL	p.K17fs	ENST00000601123.1	37	c.47_48		12																																																																																			AC018630.1	-	NULL		0.282	AC018630.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268301	Clone_based_ensembl_gene	protein_coding		-			11187134	+1	no_errors	ENST00000601123	ensembl	human	novel	70_37	frame_shift_ins	INS	0.013:0.210	AG
ZSCAN30	100101467	genome.wustl.edu	37	18	32864416	32864416	+	Intron	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr18:32864416C>T	ENST00000420878.3	-	1	149				ZSCAN30_ENST00000383091.2_Intron|ZSCAN30_ENST00000589178.1_Intron|ZSCAN30_ENST00000592278.1_Intron|RP11-158H5.7_ENST00000586922.2_lincRNA|ZSCAN30_ENST00000333206.5_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						gctgaactgccttcagccttc	0.572																																																	0																																										SO:0001627	intron_variant	0			AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.306+5631G>A	18.37:g.32864416C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0N0|Q6ZNB3|Q96PN3	RNA	SNP	-	NULL	ENST00000420878.3	37	NULL	CCDS42427.1	18																																																																																			RP11-158H5.7	-	-		0.572	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000268573	Clone_based_vega_gene	protein_coding	OTTHUMT00000442510.1	C	NM_001112734		32864416	-1	no_errors	ENST00000586922	ensembl	human	known	70_37	rna	SNP	0.013	T
ETFB	2109	genome.wustl.edu	37	19	51848515	51848515	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:51848515C>T	ENST00000309244.4	-	6	809	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.E331K|CTD-2616J11.16_ENST00000594311.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	240					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TCAGTGGTCTCCACCTTGACG	0.587																																																	0													113.0	108.0	110.0					19																	51848515		2203	4300	6503	SO:0001583	missense	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.718G>A	19.37:g.51848515C>T	ENSP00000311930:p.Glu240Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.E331K	ENST00000309244.4	37	c.991	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237615	0.58886	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.83250	-1.7;-1.7	4.2	4.2	0.49525	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	L	0.47716	1.5	0.80722	D	1	B;B	0.30634	0.064;0.288	B;B	0.31751	0.015;0.135	T	0.73626	-0.3923	10	0.22706	T	0.39	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	240;331	P38117;P38117-2	ETFB_HUMAN;.	K	240;331	ENSP00000311930:E240K;ENSP00000346173:E331K	ENSP00000311930:E240K	E	-	1	0	ETFB	56540327	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	6.765000	0.74965	2.626000	0.88956	0.655000	0.94253	GAG	ETFB	-	NULL		0.587	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	C			51848515	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	missense	SNP	1.000	T
GPC2	221914	genome.wustl.edu	37	7	99773202	99773202	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr7:99773202C>T	ENST00000292377.2	-	3	808	c.641G>A	c.(640-642)cGc>cAc	p.R214H	STAG3_ENST00000317296.5_5'Flank|GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCTGCAGGCGGAGGCGGCG	0.612																																																	0													16.0	17.0	17.0					7																	99773202		2203	4299	6502	SO:0001583	missense	221914			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.641G>A	7.37:g.99773202C>T	ENSP00000292377:p.Arg214His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2A7	Missense_Mutation	SNP	pfam_Glypican	p.R214H	ENST00000292377.2	37	c.641	CCDS5689.1	7	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412971	0.42817	.	.	ENSG00000213420	ENST00000292377	T	0.54279	0.58	5.06	4.18	0.49190	.	0.373383	0.26939	N	0.021730	T	0.46249	0.1383	M	0.64567	1.98	0.27964	N	0.936652	B	0.25169	0.119	B	0.13407	0.009	T	0.39840	-0.9594	10	0.34782	T	0.22	-0.2413	9.6173	0.39698	0.0:0.9017:0.0:0.0983	.	214	Q8N158	GPC2_HUMAN	H	214	ENSP00000292377:R214H	ENSP00000292377:R214H	R	-	2	0	GPC2	99611138	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	1.117000	0.31234	1.135000	0.42183	0.306000	0.20318	CGC	GPC2	-	pfam_Glypican		0.612	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	C	NM_152742		99773202	-1	no_errors	ENST00000292377	ensembl	human	known	70_37	missense	SNP	1.000	T
GPM6A	2823	genome.wustl.edu	37	4	176594981	176594981	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr4:176594981G>T	ENST00000280187.7	-	4	282	c.237C>A	c.(235-237)gaC>gaA	p.D79E	GPM6A_ENST00000515090.1_Missense_Mutation_p.D72E|GPM6A_ENST00000393658.2_Missense_Mutation_p.D79E|GPM6A_ENST00000506894.1_Missense_Mutation_p.D68E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	79					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACTTAAAGATGTCAATCCTGA	0.393																																																	0													54.0	52.0	52.0					4																	176594981		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.237C>A	4.37:g.176594981G>T	ENSP00000280187:p.Asp79Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.D79E	ENST00000280187.7	37	c.237	CCDS3824.1	4	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455167	0.26161	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365;ENST00000509865;ENST00000512897;ENST00000507540	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	5.84	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	N	0.25890	0.77	0.58432	D	0.999993	D;D;D	0.69078	0.992;0.992;0.997	D;D;D	0.80764	0.992;0.992;0.994	D	0.96062	0.9039	10	0.02654	T	1	-4.5556	11.3903	0.49811	0.1402:0.0:0.8598:0.0	.	72;68;79	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	E	79;79;68;72;71;16;16;16;16;16;16;16;79;16;16;16	ENSP00000280187:D79E;ENSP00000377268:D79E;ENSP00000421578:D68E;ENSP00000423984:D72E;ENSP00000422959:D71E;ENSP00000426984:D16E;ENSP00000426821:D16E;ENSP00000424075:D16E;ENSP00000421373:D16E;ENSP00000424443:D16E;ENSP00000425409:D16E;ENSP00000424125:D16E;ENSP00000423122:D79E;ENSP00000422712:D16E;ENSP00000425925:D16E;ENSP00000421407:D16E	ENSP00000280187:D79E	D	-	3	2	GPM6A	176831975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.774000	0.47694	1.441000	0.47550	0.591000	0.81541	GAC	GPM6A	-	pfam_Myelin_PLP,prints_Myelin_PLP		0.393	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1	G			176594981	-1	no_errors	ENST00000280187	ensembl	human	known	70_37	missense	SNP	1.000	T
IGFALS	3483	genome.wustl.edu	37	16	1841503	1841503	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr16:1841503G>A	ENST00000215539.3	-	2	1026	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	IGFALS_ENST00000415638.3_Missense_Mutation_p.R344W			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	306					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GTGCGGGGCCGCAGGCTGGCG	0.692																																																	0													17.0	19.0	18.0					16																	1841503		2188	4295	6483	SO:0001583	missense	3483			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.916C>T	16.37:g.1841503G>A	ENSP00000215539:p.Arg306Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZY8|E9PGU3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R344W	ENST00000215539.3	37	c.1030	CCDS10446.1	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940433	0.52972	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.25085	1.82;1.82	5.37	4.39	0.52855	.	0.105674	0.64402	D	0.000010	T	0.47154	0.1430	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.47315	-0.9127	10	0.72032	D	0.01	.	11.6357	0.51202	0.0:0.0:0.5638:0.4362	.	344;306	E9PGU3;P35858	.;ALS_HUMAN	W	306;344	ENSP00000215539:R306W;ENSP00000416683:R344W	ENSP00000215539:R306W	R	-	1	2	IGFALS	1781504	0.999000	0.42202	0.998000	0.56505	0.962000	0.63368	1.062000	0.30555	1.225000	0.43566	0.561000	0.74099	CGG	IGFALS	-	smart_Leu-rich_rpt_typical-subtyp		0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2	G			1841503	-1	no_errors	ENST00000415638	ensembl	human	known	70_37	missense	SNP	0.989	A
KIAA1024	23251	genome.wustl.edu	37	15	79750542	79750542	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr15:79750542G>A	ENST00000305428.3	+	2	2128	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	685						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTGCTGCTCTGATGCTAGCGG	0.567																																																	0													165.0	164.0	164.0					15																	79750542		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2053G>A	15.37:g.79750542G>A	ENSP00000307461:p.Asp685Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.D685N	ENST00000305428.3	37	c.2053	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846308	0.71603	.	.	ENSG00000169330	ENST00000305428	T	0.36157	1.27	5.59	5.59	0.84812	.	0.205850	0.50627	D	0.000120	T	0.52933	0.1765	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	P	0.53954	0.738	T	0.49725	-0.8909	9	.	.	.	.	19.5838	0.95484	0.0:0.0:1.0:0.0	.	685	Q9UPX6	K1024_HUMAN	N	685	ENSP00000307461:D685N	.	D	+	1	0	KIAA1024	77537597	1.000000	0.71417	0.145000	0.22337	0.213000	0.24496	9.184000	0.94893	2.634000	0.89283	0.591000	0.81541	GAT	KIAA1024	-	NULL		0.567	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79750542	+1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.998	A
KIF1A	547	genome.wustl.edu	37	2	241664739	241664739	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:241664739G>A	ENST00000320389.7	-	38	4060	c.3902C>T	c.(3901-3903)tCg>tTg	p.S1301L	KIF1A_ENST00000498729.2_Missense_Mutation_p.S1402L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1301					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATGGAGCGCGAGGCTGGCAG	0.607																																																	0													49.0	60.0	56.0					2																	241664739		2130	4256	6386	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3902C>T	2.37:g.241664739G>A	ENSP00000322791:p.Ser1301Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1402L	ENST00000320389.7	37	c.4205	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.98|15.98	2.993087|2.993087	0.54041|0.54041	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.74632	.|-0.69;-0.77;-0.86	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.206668	.|0.42821	.|U	.|0.000642	T|T	0.62720|0.62720	0.2451|0.2451	L|L	0.50333|0.50333	1.59|1.59	0.41441|0.41441	D|D	0.98792|0.98792	.|P;P;P	.|0.46952	.|0.589;0.83;0.887	.|B;B;B	.|0.33042	.|0.157;0.09;0.085	T|T	0.69120|0.69120	-0.5229|-0.5229	5|10	.|0.59425	.|D	.|0.04	.|.	11.5142|11.5142	0.50511|0.50511	0.0:0.1821:0.8179:0.0|0.0:0.1821:0.8179:0.0	.|.	.|1402;1410;1301	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	C|L	234|1301;1402;1410;1410	.|ENSP00000322791:S1301L;ENSP00000438388:S1402L;ENSP00000384231:S1410L	.|ENSP00000322791:S1301L	R|S	-|-	1|2	0|0	KIF1A|KIF1A	241313412|241313412	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.732000|0.732000	0.41865|0.41865	7.514000|7.514000	0.81750|0.81750	1.612000|1.612000	0.50221|0.50221	0.591000|0.591000	0.81541|0.81541	CGC|TCG	KIF1A	-	NULL		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241664739	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	0.975	A
KRAS	3845	genome.wustl.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)											88.0	78.0	82.0					12																	25398281		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13D	ENST00000256078.4	37	c.38	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398281	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC30	339291	genome.wustl.edu	37	18	7231199	7231199	+	Silent	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr18:7231199G>A	ENST00000383467.2	+	1	77	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	21										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTGTTCACGGGGAGGAGAC	0.622																																																	0													64.0	70.0	68.0					18																	7231199		1990	4158	6148	SO:0001819	synonymous_variant	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.63G>A	18.37:g.7231199G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T21	ENST00000383467.2	37	c.63	CCDS42409.1	18																																																																																			LRRC30	-	NULL		0.622	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	G	XM_292678		7231199	+1	no_errors	ENST00000383467	ensembl	human	known	70_37	silent	SNP	0.000	A
METTL8	79828	genome.wustl.edu	37	2	172195993	172195993	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:172195993C>G	ENST00000375258.4	-	4	522	c.307G>C	c.(307-309)Gat>Cat	p.D103H		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CAATTACGATCCTTGAAAAAC	0.333																																																	0													73.0	73.0	73.0					2																	172195993		2203	4300	6503	SO:0001583	missense	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.307G>C	2.37:g.172195993C>G	ENSP00000364407:p.Asp103His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TM9|Q53TQ0	Missense_Mutation	SNP	pfam_Methyltransf_11	p.D103H	ENST00000375258.4	37	c.307		2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046396	0.75846	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846	T;T;T;T	0.61980	3.69;1.18;0.06;0.07	5.92	5.0	0.66597	.	0.115661	0.64402	D	0.000014	T	0.77512	0.4141	M	0.80422	2.495	0.42291	D	0.992137	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.65874	0.885;0.939;0.919	T	0.80752	-0.1242	10	0.87932	D	0	-3.5587	11.6845	0.51476	0.0:0.9066:0.0:0.0934	.	58;103;103	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	H	103	ENSP00000364407:D103H;ENSP00000376377:D103H;ENSP00000404646:D103H;ENSP00000411589:D103H	ENSP00000364407:D103H	D	-	1	0	METTL8	171904239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.198000	0.42705	1.343000	0.45638	0.585000	0.79938	GAT	METTL8	-	NULL		0.333	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	C	NM_024770		172195993	-1	no_errors	ENST00000392604	ensembl	human	known	70_37	missense	SNP	1.000	G
MOB1B	92597	genome.wustl.edu	37	4	71768103	71768103	+	5'UTR	SNP	C	C	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr4:71768103C>G	ENST00000309395.2	+	0	51				MOB1B_ENST00000511449.1_3'UTR|MOB1B_ENST00000396051.2_5'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B						hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CTAGCTGAGCCGAACTAGTTG	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	92597			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.-151C>G	4.37:g.71768103C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8U6|B4DRY3|Q8IY23	RNA	SNP	-	NULL	ENST00000309395.2	37	NULL	CCDS34002.1	4																																																																																			MOB1B	-	-		0.647	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1	C	NM_173468		71768103	+1	no_errors	ENST00000511449	ensembl	human	known	70_37	rna	SNP	0.015	G
MSH4	4438	genome.wustl.edu	37	1	76282203	76282203	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:76282203G>C	ENST00000263187.3	+	6	1065	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	321					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCAAAACCTTGAATTGTTAAT	0.274								Mismatch excision repair (MMR)																																									0													57.0	59.0	58.0					1																	76282203		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.961G>C	1.37:g.76282203G>C	ENSP00000263187:p.Glu321Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E321Q	ENST00000263187.3	37	c.961	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709739	0.89018	.	.	ENSG00000057468	ENST00000263187	D	0.94966	-3.57	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (1);DNA mismatch repair protein MutS, core (2);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.88906	2.99	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.98237	1.0486	10	0.87932	D	0	-17.6713	19.2675	0.93996	0.0:0.0:1.0:0.0	.	321	O15457	MSH4_HUMAN	Q	321	ENSP00000263187:E321Q	ENSP00000263187:E321Q	E	+	1	0	MSH4	76054791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.573000	0.86826	0.655000	0.94253	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	G	NM_002440		76282203	+1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	C
MT-ND5	4540	genome.wustl.edu	37	M	13825	13825	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chrM:13825G>A	ENST00000361567.2	+	1	1489	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	497					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCACTTTCCTAGGACTTCTAA	0.438																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1489G>A	M.37:g.13825G>A	ENSP00000354813:p.Gly497Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Nonsense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.G497*	ENST00000361567.2	37	c.1489		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5		0.438	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13825	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	nonsense	SNP	NULL	A
MUC16	94025	genome.wustl.edu	37	19	9057967	9057967	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:9057967G>A	ENST00000397910.4	-	3	29682	c.29479C>T	c.(29479-29481)Cat>Tat	p.H9827Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9829	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGGAATGAGATTCATGA	0.468																																																	0													133.0	132.0	133.0					19																	9057967		2047	4197	6244	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29479C>T	19.37:g.9057967G>A	ENSP00000381008:p.His9827Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H9827Y	ENST00000397910.4	37	c.29479	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.678	0.126004	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	2.43	-1.34	0.09143	.	.	.	.	.	T	0.10078	0.0247	N	0.08118	0	.	.	.	P	0.49253	0.921	B	0.43623	0.425	T	0.21724	-1.0237	8	0.87932	D	0	.	4.7324	0.12972	0.0:0.2086:0.3671:0.4243	.	9827	B5ME49	.	Y	9827	ENSP00000381008:H9827Y	ENSP00000381008:H9827Y	H	-	1	0	MUC16	8918967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.480000	0.06559	-0.181000	0.10619	0.557000	0.71058	CAT	MUC16	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9057967	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9062922	9062922	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:9062922G>A	ENST00000397910.4	-	3	24727	c.24524C>T	c.(24523-24525)tCa>tTa	p.S8175L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8177	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCTGGTGACACTGTGAG	0.507																																																	0													127.0	123.0	124.0					19																	9062922		2083	4220	6303	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24524C>T	19.37:g.9062922G>A	ENSP00000381008:p.Ser8175Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S8175L	ENST00000397910.4	37	c.24524	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.978	0.750473	0.15778	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.31	1.15	0.20763	.	.	.	.	.	T	0.02083	0.0065	N	0.17082	0.46	.	.	.	B	0.32573	0.376	B	0.32583	0.148	T	0.37174	-0.9717	8	0.87932	D	0	.	5.502	0.16834	0.2623:0.0:0.7377:0.0	.	8175	B5ME49	.	L	8175	ENSP00000381008:S8175L	ENSP00000381008:S8175L	S	-	2	0	MUC16	8923922	0.022000	0.18835	0.003000	0.11579	0.061000	0.15899	2.204000	0.42761	0.412000	0.25729	0.508000	0.49915	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9062922	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.003	A
OR13F1	138805	genome.wustl.edu	37	9	107266772	107266772	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr9:107266772G>T	ENST00000334726.2	+	1	318	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCTCTTCTGCCCTCTCTCC	0.498																																																	0													168.0	147.0	154.0					9																	107266772		2203	4300	6503	SO:0001583	missense	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.229G>T	9.37:g.107266772G>T	ENSP00000334452:p.Ala77Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF50	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A77S	ENST00000334726.2	37	c.229	CCDS35087.1	9	.	.	.	.	.	.	.	.	.	.	G	0.763	-0.768471	0.02974	.	.	ENSG00000186881	ENST00000334726	T	0.01099	5.34	3.91	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32593	N	0.005887	T	0.00496	0.0016	N	0.01482	-0.84	0.23607	N	0.997309	B	0.14012	0.009	B	0.12156	0.007	T	0.47923	-0.9079	10	0.02654	T	1	.	7.7245	0.28753	0.1137:0.0:0.8863:0.0	.	77	Q8NGS4	O13F1_HUMAN	S	77	ENSP00000334452:A77S	ENSP00000334452:A77S	A	+	1	0	OR13F1	106306593	0.000000	0.05858	0.995000	0.50966	0.905000	0.53344	0.787000	0.26858	1.227000	0.43598	0.650000	0.86243	GCC	OR13F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	G			107266772	+1	no_errors	ENST00000334726	ensembl	human	known	70_37	missense	SNP	0.833	T
OR1C1	26188	genome.wustl.edu	37	1	247920940	247920940	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:247920940C>T	ENST00000408896.2	-	1	1042	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAATAGACGGCGATGGCTGTG	0.517																																																	0													67.0	67.0	67.0					1																	247920940		2049	4212	6261	SO:0001583	missense	26188			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.769G>A	1.37:g.247920940C>T	ENSP00000386138:p.Ala257Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A257T	ENST00000408896.2	37	c.769	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096876	0.37048	.	.	ENSG00000221888	ENST00000408896	T	0.00099	8.73	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.17248	0.465	0.09310	N	1	P	0.47484	0.896	B	0.43445	0.42	T	0.55541	-0.8125	9	0.72032	D	0.01	.	8.6451	0.34000	0.4059:0.5941:0.0:0.0	.	257	Q15619	OR1C1_HUMAN	T	257	ENSP00000386138:A257T	ENSP00000386138:A257T	A	-	1	0	OR1C1	245987563	0.000000	0.05858	0.976000	0.42696	0.304000	0.27724	-0.142000	0.10311	1.798000	0.52647	0.591000	0.81541	GCC	OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	C			247920940	-1	no_errors	ENST00000408896	ensembl	human	known	70_37	missense	SNP	0.014	T
PBX2P1	5088	genome.wustl.edu	37	3	142897272	142897273	+	RNA	INS	-	-	TTG	rs564845634		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr3:142897272_142897273insTTG	ENST00000560287.1	+	0	2146_2147									pre-B-cell leukemia homeobox 2 pseudogene 1																		AAGTAGCTTGtttttttttttt	0.332																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142897272_142897273insTTG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.332	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	-	NG_002434		142897273	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	INS	0.085:0.057	TTG
PPFIA1	8500	genome.wustl.edu	37	11	70183532	70183532	+	Splice_Site	SNP	A	A	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr11:70183532A>G	ENST00000253925.7	+	12	1705	c.1490A>G	c.(1489-1491)aAg>aGg	p.K497R	PPFIA1_ENST00000389547.3_Splice_Site_p.K497R|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	497					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CAACACGATAAGGTACTGAAA	0.363																																																	0													141.0	126.0	131.0					11																	70183532		2200	4294	6494	SO:0001630	splice_region_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1491+1A>G	11.37:g.70183532A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K497R	ENST00000253925.7	37	c.1490	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587006	0.46110	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.41400	1.0;1.0	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.46249	0.1383	M	0.64997	1.995	0.51482	D	0.999929	B;P	0.34955	0.205;0.477	B;B	0.40565	0.111;0.333	T	0.51880	-0.8649	10	0.87932	D	0	.	12.4588	0.55721	1.0:0.0:0.0:0.0	.	497;497	Q13136;Q13136-2	LIPA1_HUMAN;.	R	497	ENSP00000253925:K497R;ENSP00000374198:K497R	ENSP00000253925:K497R	K	+	2	0	PPFIA1	69861180	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.709000	0.74665	1.833000	0.53350	0.459000	0.35465	AAG	PPFIA1	-	NULL		0.363	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	A	NM_003626	Missense_Mutation	70183532	+1	no_errors	ENST00000253925	ensembl	human	known	70_37	missense	SNP	1.000	G
PRR4	11272	genome.wustl.edu	37	12	11001055	11001055	+	Intron	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr12:11001055C>T	ENST00000228811.4	-	2	102				PRR4_ENST00000540107.1_Intron|PRR4_ENST00000536668.1_Intron|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)						retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						ATAAATCTTTCAGGGCTCATA	0.448																																																	0													68.0	66.0	67.0					12																	11001055		1922	4143	6065	SO:0001627	intron_variant	11272				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.65-49G>A	12.37:g.11001055C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA69|F5H0D7|Q8NFB3	RNA	SNP	-	NULL	ENST00000228811.4	37	NULL	CCDS41756.1	12																																																																																			PRR4	-	-		0.448	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRR4	HGNC	protein_coding	OTTHUMT00000400049.1	C	NM_007244		11001055	-1	no_errors	ENST00000539285	ensembl	human	known	70_37	rna	SNP	0.050	T
PTPRT	11122	genome.wustl.edu	37	20	40979319	40979319	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr20:40979319G>A	ENST00000373187.1	-	11	1813	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M	PTPRT_ENST00000373201.1_Missense_Mutation_p.T605M|PTPRT_ENST00000373198.4_Missense_Mutation_p.T605M|PTPRT_ENST00000373193.3_Missense_Mutation_p.T605M|PTPRT_ENST00000373184.1_Missense_Mutation_p.T605M|PTPRT_ENST00000373190.1_Missense_Mutation_p.T605M|PTPRT_ENST00000356100.2_Missense_Mutation_p.T605M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	605	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTGATGGTCGTGTCTGTCTC	0.527																																																	0													185.0	192.0	190.0					20																	40979319		2083	4216	6299	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1814C>T	20.37:g.40979319G>A	ENSP00000362283:p.Thr605Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T605M	ENST00000373187.1	37	c.1814	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188051	0.78789	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.38077	1.17;1.17;1.17;1.16;1.16;1.18;1.18	6.06	6.06	0.98353	.	0.099808	0.64402	D	0.000002	T	0.54240	0.1846	L	0.55481	1.735	0.48511	D	0.999662	D;D	0.71674	0.998;0.997	D;P	0.64042	0.921;0.776	T	0.52638	-0.8549	10	0.87932	D	0	.	16.0307	0.80574	0.0:0.1335:0.8665:0.0	.	605;605	O14522-1;O14522	.;PTPRT_HUMAN	M	605	ENSP00000362286:T605M;ENSP00000362283:T605M;ENSP00000362289:T605M;ENSP00000348408:T605M;ENSP00000362294:T605M;ENSP00000362280:T605M;ENSP00000362297:T605M	ENSP00000348408:T605M	T	-	2	0	PTPRT	40412733	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.030000	0.49720	2.882000	0.98803	0.655000	0.94253	ACG	PTPRT	-	NULL		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40979319	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB40A	142684	genome.wustl.edu	37	X	102755559	102755559	+	Silent	SNP	C	C	T			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chrX:102755559C>T	ENST00000372633.1	-	1	2244	c.126G>A	c.(124-126)ccG>ccA	p.P42P	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Silent_p.P42P			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	42					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.P42P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GATGGCTGTACGGGGACTCAG	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											125.0	110.0	115.0					X																	102755559		2203	4300	6503	SO:0001819	synonymous_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.126G>A	X.37:g.102755559C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P42	ENST00000372633.1	37	c.126	CCDS35357.1	X																																																																																			RAB40A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.607	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40A	HGNC	protein_coding	OTTHUMT00000057714.1	C			102755559	-1	no_errors	ENST00000304236	ensembl	human	known	70_37	silent	SNP	0.274	T
SBF1	6305	genome.wustl.edu	37	22	50897698	50897698	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr22:50897698T>C	ENST00000390679.3	-	28	3996	c.3812A>G	c.(3811-3813)cAc>cGc	p.H1271R	SBF1_ENST00000380817.3_Missense_Mutation_p.H1271R|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.H1272R			O95248	MTMR5_HUMAN	SET binding factor 1	1271	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACTGCCCATGTGGGCTGAGGA	0.657																																																	0													20.0	25.0	23.0					22																	50897698		2057	4191	6248	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3812A>G	22.37:g.50897698T>C	ENSP00000375097:p.His1271Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.H1271R	ENST00000390679.3	37	c.3812		22	.	.	.	.	.	.	.	.	.	.	T	13.34	2.206780	0.39003	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.05;-2.06	4.44	4.44	0.53790	Myotubularin phosphatase domain (1);	0.954662	0.08707	N	0.905443	D	0.84862	0.5566	L	0.51422	1.61	0.80722	D	1	B;P	0.52316	0.002;0.952	B;P	0.47075	0.002;0.536	T	0.77953	-0.2394	10	0.25751	T	0.34	.	13.4936	0.61411	0.0:0.0:0.0:1.0	.	1271;1271	O95248;O95248-4	MTMR5_HUMAN;.	R	1271;1272;1281;1271	ENSP00000370196:H1271R;ENSP00000252027:H1272R;ENSP00000375097:H1271R	ENSP00000336522:H1281R	H	-	2	0	SBF1	49244564	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.429000	0.80309	1.850000	0.53721	0.459000	0.35465	CAC	SBF1	-	NULL		0.657	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		T			50897698	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	C
SIX5	147912	genome.wustl.edu	37	19	46270270	46270270	+	Missense_Mutation	SNP	G	G	A	rs561325897		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:46270270G>A	ENST00000317578.6	-	2	1328	c.947C>T	c.(946-948)cCg>cTg	p.P316L	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	316					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GGAGGAAGCCGGGCAAGGCGC	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14213	0.0		0.0	False		,,,				2504	0.001																0													10.0	12.0	12.0					19																	46270270		2183	4280	6463	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.947C>T	19.37:g.46270270G>A	ENSP00000316842:p.Pro316Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P316L	ENST00000317578.6	37	c.947	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	g	8.559	0.877360	0.17395	.	.	ENSG00000177045	ENST00000317578	D	0.89617	-2.54	4.2	4.2	0.49525	.	0.583336	0.13097	N	0.414081	T	0.68696	0.3029	N	0.08118	0	0.80722	D	1	P	0.42375	0.778	B	0.26864	0.074	T	0.68473	-0.5399	10	0.10377	T	0.69	-6.8518	7.8188	0.29276	0.1128:0.0:0.8872:0.0	.	316	Q8N196	SIX5_HUMAN	L	316	ENSP00000316842:P316L	ENSP00000316842:P316L	P	-	2	0	SIX5	50962110	0.989000	0.36119	0.988000	0.46212	0.231000	0.25187	2.073000	0.41519	2.163000	0.67991	0.561000	0.74099	CCG	SIX5	-	NULL		0.706	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	G	NM_175875		46270270	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	0.993	A
SMC2	10592	genome.wustl.edu	37	9	106882375	106882375	+	Silent	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr9:106882375G>A	ENST00000286398.7	+	16	2352	c.2064G>A	c.(2062-2064)ctG>ctA	p.L688L	SMC2_ENST00000374787.3_Silent_p.L688L|SMC2_ENST00000374793.3_Silent_p.L688L|SMC2_ENST00000303219.8_Silent_p.L688L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	688					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGGATGAACTGAGAATCAAAG	0.393																																																	0													111.0	121.0	118.0					9																	106882375		2203	4299	6502	SO:0001819	synonymous_variant	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2064G>A	9.37:g.106882375G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.L688	ENST00000286398.7	37	c.2064	CCDS35086.1	9																																																																																			SMC2	-	superfamily_SMC_hinge		0.393	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	G			106882375	+1	no_errors	ENST00000286398	ensembl	human	known	70_37	silent	SNP	0.511	A
SMOX	54498	genome.wustl.edu	37	20	4155761	4155761	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr20:4155761G>A	ENST00000305958.4	+	2	284	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	SMOX_ENST00000278795.3_Missense_Mutation_p.R20Q|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000346595.2_Missense_Mutation_p.R20Q|SMOX_ENST00000339123.6_Missense_Mutation_p.R20Q|SMOX_ENST00000379460.2_Missense_Mutation_p.R20Q	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	20					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CGCGGCCTACGGAGAAGGGGA	0.612																																																	0													168.0	146.0	153.0					20																	4155761		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.59G>A	20.37:g.4155761G>A	ENSP00000307252:p.Arg20Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.R20Q	ENST00000305958.4	37	c.59	CCDS13075.1	20	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816402	0.70912	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460	T;T;T;T;T	0.47528	1.44;1.83;1.42;0.84;1.83	5.18	4.18	0.49190	.	0.184033	0.47852	D	0.000204	T	0.34164	0.0888	N	0.24115	0.695	0.41587	D	0.988774	P;P;P;P;P;P	0.52577	0.553;0.954;0.642;0.85;0.681;0.911	B;B;B;B;B;B	0.42087	0.155;0.375;0.059;0.213;0.218;0.228	T	0.10823	-1.0613	9	.	.	.	-12.2484	14.2728	0.66162	0.0:0.1502:0.8498:0.0	.	20;20;20;20;20;20	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	Q	20	ENSP00000344595:R20Q;ENSP00000307252:R20Q;ENSP00000278795:R20Q;ENSP00000341775:R20Q;ENSP00000368773:R20Q	.	R	+	2	0	SMOX	4103761	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	4.278000	0.58946	2.572000	0.86782	0.650000	0.86243	CGG	SMOX	-	NULL		0.612	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	G	NM_175842		4155761	+1	no_errors	ENST00000305958	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEG	10290	genome.wustl.edu	37	2	220348578	220348578	+	Silent	SNP	C	C	T	rs373080805		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr2:220348578C>T	ENST00000312358.7	+	30	6525	c.6393C>T	c.(6391-6393)ttC>ttT	p.F2131F	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2131					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGCTTCTCCCAGGGTG	0.736																																																	0													6.0	8.0	8.0					2																	220348578		1792	3963	5755	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6393C>T	2.37:g.220348578C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F2131	ENST00000312358.7	37	c.6393	CCDS42824.1	2																																																																																			SPEG	-	NULL		0.736	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220348578	+1	no_errors	ENST00000312358	ensembl	human	novel	70_37	silent	SNP	0.855	T
TNNI3	7137	genome.wustl.edu	37	19	55668952	55668952	+	Silent	SNP	C	C	T	rs397516361		TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	CTD-2587H24.4_ENST00000587871.1_3'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A). {ECO:0000269|PubMed:15070570}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687																																																	0													84.0	94.0	91.0					19																	55668952		1969	4167	6136	SO:0001819	synonymous_variant	7137			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	19.37:g.55668952C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Troponin,pfam_Troponin-I_N	p.A2	ENST00000344887.5	37	c.6	CCDS42628.1	19																																																																																			TNNI3	-	NULL		0.687	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	C			55668952	-1	no_errors	ENST00000344887	ensembl	human	known	70_37	silent	SNP	0.802	T
UBN1	29855	genome.wustl.edu	37	16	4910677	4910677	+	Silent	SNP	C	C	G			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr16:4910677C>G	ENST00000396658.4	+	6	1387	c.684C>G	c.(682-684)ctC>ctG	p.L228L	UBN1_ENST00000545171.1_Silent_p.L228L|UBN1_ENST00000262376.6_Silent_p.L228L|UBN1_ENST00000590769.1_Silent_p.L228L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	228	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L228L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACAGCCCTCAATGCCAGTA	0.458																																																	1	Substitution - coding silent(1)	endometrium(1)											140.0	153.0	149.0					16																	4910677		2196	4300	6496	SO:0001819	synonymous_variant	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.684C>G	16.37:g.4910677C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	NULL	p.L228	ENST00000396658.4	37	c.684	CCDS10525.1	16																																																																																			UBN1	-	NULL		0.458	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	C	NM_016936		4910677	+1	no_errors	ENST00000262376	ensembl	human	known	70_37	silent	SNP	0.999	G
UROD	7389	genome.wustl.edu	37	1	45480138	45480138	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr1:45480138G>A	ENST00000246337.4	+	7	783	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	222					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GTCCCATGCAGGGCATCTTGG	0.512									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	91.0	92.0					1																	45480138		2203	4300	6503	SO:0001583	missense	7389	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.664G>A	1.37:g.45480138G>A	ENSP00000246337:p.Gly222Arg	Somatic	931	WXS	Illumina HiSeq	Phase_IV	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	p.G222R	ENST00000246337.4	37	c.664	CCDS518.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.405428|4.405428	0.83230|0.83230	.|.	.|.	ENSG00000126088|ENSG00000126088	ENST00000246337;ENST00000372139|ENST00000428106	D|.	0.95272|.	-3.66|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Uroporphyrinogen decarboxylase (URO-D) (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91157|0.91157	0.7215|0.7215	H|H	0.98701|0.98701	4.305|4.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.94549|0.94549	0.7752|0.7752	10|5	0.87932|.	D|.	0|.	-2.4132|-2.4132	18.8267|18.8267	0.92122|0.92122	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	222|.	P06132|.	DCUP_HUMAN|.	R|K	222;161|161	ENSP00000246337:G222R|.	ENSP00000246337:G222R|.	G|R	+|+	1|2	0|0	UROD|UROD	45252725|45252725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.443000|8.443000	0.90320|0.90320	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GGG|AGG	UROD	-	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE		0.512	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	G	NM_000374		45480138	+1	no_errors	ENST00000246337	ensembl	human	known	70_37	missense	SNP	1.000	A
XRRA1	143570	genome.wustl.edu	37	11	74651913	74651913	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HF-01A-11D-A20U-09	TCGA-C5-A3HF-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4627ca0c-13cc-45e5-aaa9-e2e7026780b5	0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41	g.chr11:74651913G>A	ENST00000340360.6	-	3	342	c.11C>T	c.(10-12)tCa>tTa	p.S4L	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.S4L	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTAGATTCCTGAGAAGGCCAT	0.532																																																	0													51.0	51.0	51.0					11																	74651913		2142	4263	6405	SO:0001583	missense	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.11C>T	11.37:g.74651913G>A	ENSP00000339918:p.Ser4Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S4L	ENST00000340360.6	37	c.11	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262977	0.39995	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.55052	0.57;0.54;0.73	5.28	4.33	0.51752	.	0.463132	0.16234	N	0.223442	T	0.49729	0.1574	M	0.65975	2.015	0.19775	N	0.999956	B;B	0.16802	0.006;0.019	B;B	0.17433	0.002;0.018	T	0.46762	-0.9168	10	0.49607	T	0.09	-3.602	8.8683	0.35300	0.1121:0.0:0.8879:0.0	.	4;4	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	L	4	ENSP00000339918:S4L;ENSP00000435838:S4L;ENSP00000437334:S4L	ENSP00000339918:S4L	S	-	2	0	XRRA1	74329561	0.581000	0.26741	0.294000	0.24946	0.874000	0.50279	3.103000	0.50298	1.276000	0.44395	0.563000	0.77884	TCA	XRRA1	-	NULL		0.532	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	G	NM_182969		74651913	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	missense	SNP	0.296	A
