#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF490	57474	broad.mit.edu	37	19	12692413	12692413	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:12692413C>A	ENST00000311437.6	-	5	598	c.476G>T	c.(475-477)aGt>aTt	p.S159I	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACACACACTGCAGTCACA	0.423																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(475-477)aGt>aTt		zinc finger protein 490							190.0	166.0	174.0					19																	12692413		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692413C>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.476G>T	19.37:g.12692413C>A	ENSP00000311521:p.Ser159Ile						p.S159I	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	598	-			159						Missense_Mutation	SNP	ENST00000311437.6	37	c.476G>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	5.986	0.365942	0.11352	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.16457	2.34;4.6	0.996	-0.214	0.13161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14013	0.0339	L	0.55990	1.75	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.30534	-0.9975	9	0.37606	T	0.19	.	3.8987	0.09150	0.0:0.3023:0.5067:0.191	.	159	Q9ULM2	ZN490_HUMAN	I	159;106	ENSP00000311521:S159I;ENSP00000404112:S106I	ENSP00000311521:S159I	S	-	2	0	ZNF490	12553413	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	-3.031000	0.00637	-0.025000	0.13918	0.491000	0.48974	AGT		0.423	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		60	86	1	0	4.10029e-35	0.000781405	3.23199e-34	60	86				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		45	51	0	0	0	0.00285205	0	45	51				
RAB3D	9545	broad.mit.edu	37	19	11446144	11446144	+	Missense_Mutation	SNP	G	G	A	rs72992916	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:11446144G>A	ENST00000222120.3	-	4	711	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RAB3D_ENST00000589655.1_Missense_Mutation_p.R151W	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	151					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCGAGCCTCCGGCCATCCTCA	0.607													G|||	5	0.000998403	0.0	0.0	5008	,	,		20252	0.0		0.003	False		,,,				2504	0.002					ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(451-453)Cgg>Tgg		RAB3D, member RAS oncogene family		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	75.0	61.0	66.0		451	3.5	1.0	19	dbSNP_130	66	21,8579	15.3+/-51.7	0,21,4279	yes	missense	RAB3D	NM_004283.3	101	0,23,6480	AA,AG,GG		0.2442,0.0454,0.1768	probably-damaging	151/220	11446144	23,12983	2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446144G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.451C>T	19.37:g.11446144G>A	ENSP00000222120:p.Arg151Trp					RAB3D_ENST00000589655.1_Missense_Mutation_p.R151W	p.R151W	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			4	711	-			151						Missense_Mutation	SNP	ENST00000222120.3	37	c.451C>T	CCDS12257.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.22	2.768732	0.49680	4.54E-4	0.002442	ENSG00000105514	ENST00000222120	T	0.78003	-1.14	4.62	3.5	0.40072	Small GTP-binding protein domain (1);	0.591766	0.17639	N	0.167102	T	0.74114	0.3674	M	0.64170	1.965	0.53005	D	0.999969	B	0.18166	0.026	B	0.17098	0.017	T	0.75456	-0.3311	10	0.87932	D	0	.	12.0588	0.53550	0.0:0.0:0.7748:0.2252	.	151	O95716	RAB3D_HUMAN	W	151	ENSP00000222120:R151W	ENSP00000222120:R151W	R	-	1	2	RAB3D	11307144	0.600000	0.26899	0.993000	0.49108	0.720000	0.41350	1.630000	0.37081	2.575000	0.86900	0.448000	0.29417	CGG		0.607	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		9	32	0	0	0	0.000274275	0	9	32				
ZBTB2	57621	broad.mit.edu	37	6	151686819	151686819	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr6:151686819T>C	ENST00000325144.4	-	3	1522	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N461S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AACAACCTCATTGGGAGTGGA	0.473																																						ENST00000325144.4																			1	Substitution - Missense(1)	p.N461S(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1381-1383)aAt>aGt		zinc finger and BTB domain containing 2							178.0	161.0	166.0					6																	151686819		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686819T>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1382A>G	6.37:g.151686819T>C	ENSP00000323183:p.Asn461Ser						p.N461S	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1522	-			461					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1382A>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	8.191	0.795948	0.16327	.	.	ENSG00000181472	ENST00000325144	T	0.03831	3.79	5.41	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.177997	0.64402	N	0.000017	T	0.00468	0.0015	N	0.01618	-0.8	0.39545	D	0.968871	P	0.36909	0.573	B	0.33521	0.165	T	0.37174	-0.9717	10	0.02654	T	1	-15.0166	9.0048	0.36104	0.0:0.2123:0.0:0.7877	.	461	Q8N680	ZBTB2_HUMAN	S	461	ENSP00000323183:N461S	ENSP00000323183:N461S	N	-	2	0	ZBTB2	151728512	0.934000	0.31675	0.208000	0.23602	0.905000	0.53344	1.439000	0.35013	0.058000	0.16222	0.460000	0.39030	AAT		0.473	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		39	44	0	0	0	0.000814825	0	39	44				
AKAP10	11216	broad.mit.edu	37	17	19835124	19835124	+	Silent	SNP	C	C	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr17:19835124C>A	ENST00000225737.6	-	10	1792	c.1635G>T	c.(1633-1635)gcG>gcT	p.A545A	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATACCTGAGACGCAGAGCTGT	0.483																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1633-1635)gcG>gcT		A kinase (PRKA) anchor protein 10							68.0	64.0	65.0					17																	19835124		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19835124C>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1635G>T	17.37:g.19835124C>A						AKAP10_ENST00000395536.3_Intron	p.A545A	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			10	1792	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		545					B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.1635G>T	CCDS11214.1																																																																																				0.483	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		18	39	1	0	3.52763e-06	0.000566183	2.42412e-05	18	39				
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100559710T>G																													12.37:g.100559710T>G								NR_036632.1						0	599	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.602	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			5	23	0	0	0	0.00198382	0	5	23				
LARP4B	23185	broad.mit.edu	37	10	863763	863763	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr10:863763T>C	ENST00000316157.3	-	14	1637	c.1597A>G	c.(1597-1599)Agc>Ggc	p.S533G	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	533					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGAGGGAAGCTGGACAGCCCC	0.532																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1597-1599)Agc>Ggc		La ribonucleoprotein domain family, member 4B							139.0	148.0	145.0					10																	863763		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:863763T>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1597A>G	10.37:g.863763T>C	ENSP00000326128:p.Ser533Gly						p.S533G	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			14	1637	-			533					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1597A>G	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.012730|4.012730	0.75161|0.75161	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000316157	.|T	.|0.37915	.|1.17	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.110813	.|0.85682	.|D	.|0.000000	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.46157|0.46157	1.445|1.445	0.46849|0.46849	D|D	0.999227|0.999227	.|P	.|0.38767	.|0.646	.|B	.|0.37144	.|0.242	T|T	0.19778|0.19778	-1.0295|-1.0295	5|10	.|0.66056	.|D	.|0.02	-3.4513|-3.4513	16.7021|16.7021	0.85357|0.85357	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|533	.|Q92615	.|LAR4B_HUMAN	R|G	98|533	.|ENSP00000326128:S533G	.|ENSP00000326128:S533G	Q|S	-|-	2|1	0|0	LARP4B|LARP4B	853763|853763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.749000|0.749000	0.42624|0.42624	7.520000|7.520000	0.81821|0.81821	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.532	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		28	173	0	0	0	0.000720815	0	28	173				
NUBP1	4682	broad.mit.edu	37	16	10855636	10855636	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:10855636C>T	ENST00000283027.5	+	9	759	c.740C>T	c.(739-741)cCc>cTc	p.P247L	TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P236L	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						ATATTCCCTCCCACAACCGGG	0.517																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(739-741)cCc>cTc		nucleotide binding protein 1							46.0	51.0	49.0					16																	10855636		2197	4300	6497	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855636C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.740C>T	16.37:g.10855636C>T	ENSP00000283027:p.Pro247Leu					NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P236L|TVP23A_ENST00000572980.1_Intron	p.P247L	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			9	759	+			247						Missense_Mutation	SNP	ENST00000283027.5	37	c.740C>T	CCDS10543.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351701	0.82132	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.39406	1.08;1.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.90977	3.165	0.80722	D	1	P;D	0.60160	0.611;0.987	P;D	0.65987	0.463;0.94	T	0.78650	-0.2121	10	0.72032	D	0.01	.	18.1999	0.89834	0.0:1.0:0.0:0.0	.	236;247	P53384-2;P53384	.;NUBP1_HUMAN	L	247;236	ENSP00000283027:P247L;ENSP00000409654:P236L	ENSP00000283027:P247L	P	+	2	0	NUBP1	10763137	1.000000	0.71417	0.412000	0.26496	0.623000	0.37688	5.643000	0.67895	2.594000	0.87642	0.655000	0.94253	CCC		0.517	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		4	75	0	0	0	0.00116845	0	4	75				
OTP	23440	broad.mit.edu	37	5	76932745	76932745	+	Silent	SNP	G	G	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr5:76932745G>A	ENST00000306422.3	-	2	1486	c.348C>T	c.(346-348)ctC>ctT	p.L116L	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	116					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAACTCGTTGAGCTGTGCGG	0.667																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(346-348)ctC>ctT		orthopedia homeobox							111.0	112.0	112.0					5																	76932745		2203	4300	6503	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932745G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.348C>T	5.37:g.76932745G>A						OTP_ENST00000515716.1_5'UTR	p.L116L	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1486	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	116						Silent	SNP	ENST00000306422.3	37	c.348C>T	CCDS4039.1																																																																																				0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			92	97	0	0	0	0.000781405	0	92	97				
ANK1	286	broad.mit.edu	37	8	41546095	41546095	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:41546095C>T	ENST00000347528.4	-	34	4200	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1373K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1373					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTATCTTCGGCTCCACTT	0.567																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4117-4119)Gaa>Aaa		ankyrin 1, erythrocytic							121.0	95.0	104.0					8																	41546095		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41546095C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4117G>A	8.37:g.41546095C>T	ENSP00000339620:p.Glu1373Lys					ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1373K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K	p.E1373K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		34	4200	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1373					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4117G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339417|2.339417	0.41398|0.41398	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.65364|.	-0.14;-0.15;-0.12;-0.1;-0.12;-0.11;-0.14|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.312361|.	0.33938|.	N|.	0.004415|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.36672|0.36672	1.1|1.1	0.46376|0.46376	D|D	0.999015|0.999015	P;D;B;B;P;B|.	0.54047|.	0.797;0.964;0.072;0.009;0.52;0.143|.	B;B;B;B;B;B|.	0.43103|.	0.408;0.407;0.011;0.01;0.291;0.011|.	T|T	0.53989|0.53989	-0.8360|-0.8360	10|5	0.32370|.	T|.	0.25|.	.|.	16.1431|16.1431	0.81539|0.81539	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1414;1373;1373;1373;1373;689|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1373;1373;1373;1373;1373;1373;1414;1373|694	ENSP00000339620:E1373K;ENSP00000289734:E1373K;ENSP00000369082:E1373K;ENSP00000380149:E1373K;ENSP00000380147:E1373K;ENSP00000309131:E1373K;ENSP00000265709:E1414K|.	ENSP00000265709:E1414K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41665252|41665252	1.000000|1.000000	0.71417|0.71417	0.079000|0.079000	0.20413|0.20413	0.010000|0.010000	0.07245|0.07245	6.017000|6.017000	0.70805|0.70805	2.579000|2.579000	0.87056|0.87056	0.462000|0.462000	0.41574|0.41574	GAA|CGA		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		20	18	0	0	0	0.00121646	0	20	18				
SEC24D	9871	broad.mit.edu	37	4	119718931	119718931	+	Silent	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr4:119718931T>C	ENST00000280551.6	-	8	1186	c.948A>G	c.(946-948)acA>acG	p.T316T	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Silent_p.T317T			O94855	SC24D_HUMAN	SEC24 family member D	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GAAAACAGTATGTTGTACAAC	0.388																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(949-951)acA>acG		SEC24 family member D							117.0	100.0	106.0					4																	119718931		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119718931T>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.948A>G	4.37:g.119718931T>C						SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.T316T	p.T317T	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			8	1222	-			316					Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.951A>G	CCDS3710.1																																																																																				0.388	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			10	32	0	0	0	0.000442599	0	10	32				
TUT1	64852	broad.mit.edu	37	11	62344744	62344744	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:62344744G>C	ENST00000476907.1	-	6	1871	c.1180C>G	c.(1180-1182)Cgt>Ggt	p.R394G	MIR3654_ENST00000496634.2_Missense_Mutation_p.R394G|EEF1G_ENST00000378019.3_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R432G			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	394					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCAGGAAACGGGAGTTATGC	0.602																																						ENST00000496634.2																			0				NS(1)	1						c.(1180-1182)Cgt>Ggt									66.0	65.0	65.0					11																	62344744		2202	4298	6500	SO:0001583	missense	0							g.chr11:62344744G>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1180C>G	11.37:g.62344744G>C	ENSP00000419607:p.Arg394Gly					TUT1_ENST00000476907.1_Missense_Mutation_p.R394G|TUT1_ENST00000308436.7_Missense_Mutation_p.R432G	p.R394G							6	1225	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1180C>G		.	.	.	.	.	.	.	.	.	.	G	17.43	3.387037	0.61956	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.45276	0.9;0.9	5.84	5.84	0.93424	.	0.255271	0.40064	N	0.001197	T	0.49762	0.1576	M	0.77486	2.375	0.30104	N	0.807159	P	0.48640	0.913	P	0.46299	0.511	T	0.61584	-0.7033	10	0.59425	D	0.04	-22.0112	10.9698	0.47432	0.084:0.0:0.916:0.0	.	432	F5H0R1	.	G	432;394	ENSP00000308000:R432G;ENSP00000419607:R394G	ENSP00000441670:R394G	R	-	1	0	TUT1	62101320	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	6.028000	0.70889	2.779000	0.95612	0.655000	0.94253	CGT		0.602	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		20	15	0	0	0	0.00121646	0	20	15				
IRAK3	11213	broad.mit.edu	37	12	66639013	66639013	+	Missense_Mutation	SNP	C	C	T	rs199538395		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr12:66639013C>T	ENST00000261233.4	+	11	1706	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	IRAK3_ENST00000457197.2_Missense_Mutation_p.R368W	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGCTGCAACGCGGGCAAAGTT	0.438																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1285-1287)Cgg>Tgg		interleukin-1 receptor-associated kinase 3		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	77.0	79.0	79.0		1102,1285	1.8	0.1	12		79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	IRAK3	NM_001142523.1,NM_007199.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	368/536,429/597	66639013	2,13004	2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66639013C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1285C>T	12.37:g.66639013C>T	ENSP00000261233:p.Arg429Trp					IRAK3_ENST00000457197.2_Missense_Mutation_p.R368W	p.R429W	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	11	1706	+			429		R -> Q (may be associated with ASRT5).	Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1285C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756852	0.31137	0.0	2.33E-4	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35236	1.32;1.32	5.89	1.79	0.24919	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.256644	0.30003	N	0.010658	T	0.61850	0.2380	M	0.86953	2.85	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	P;D	0.70935	0.897;0.971	T	0.59690	-0.7407	9	.	.	.	-8.1859	13.5449	0.61697	0.5643:0.4357:0.0:0.0	.	368;429	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	W	429;368	ENSP00000261233:R429W;ENSP00000409852:R368W	.	R	+	1	2	IRAK3	64925280	0.585000	0.26774	0.076000	0.20297	0.001000	0.01503	0.520000	0.22878	0.044000	0.15775	-0.314000	0.08810	CGG		0.438	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			68	79	0	0	0	0.000781405	0	68	79				
MTSS1L	92154	broad.mit.edu	37	16	70698292	70698292	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:70698292A>C	ENST00000338779.6	-	15	1806	c.1532T>G	c.(1531-1533)tTt>tGt	p.F511C	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	511					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TGACTTGTCAAACTCGGGCGG	0.667																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1531-1533)tTt>tGt		metastasis suppressor 1-like							36.0	32.0	33.0					16																	70698292		2197	4299	6496	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698292A>C		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1532T>G	16.37:g.70698292A>C	ENSP00000341171:p.Phe511Cys					FLJ00418_ENST00000597002.1_5'UTR	p.F511C	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	1806	-			511					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1532T>G	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748581	0.69533	.	.	ENSG00000132613	ENST00000338779	T	0.43688	0.94	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.77103	2.36	0.48511	D	0.99966	D	0.76494	0.999	D	0.69824	0.966	T	0.64918	-0.6294	10	0.41790	T	0.15	-25.4626	13.315	0.60401	1.0:0.0:0.0:0.0	.	511	Q765P7	MTSSL_HUMAN	C	511	ENSP00000341171:F511C	ENSP00000341171:F511C	F	-	2	0	MTSS1L	69255793	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	9.239000	0.95389	1.615000	0.50252	0.379000	0.24179	TTT		0.667	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		27	15	0	0	0	0.000720815	0	27	15				
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs371305733		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGATGGAGTCAGTGATGGACG	0.617																																						ENST00000567960.1																			0																																																			0							g.chr16:90161609A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161609A>G						TUBB8P7_ENST00000564451.1_RNA								0	345	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.617	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	71	0	0	0	6.4e-05	0	3	71				
CSMD3	114788	broad.mit.edu	37	8	114326991	114326991	+	Silent	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:114326991T>C	ENST00000297405.5	-	2	454	c.210A>G	c.(208-210)aaA>aaG	p.K70K	CSMD3_ENST00000352409.3_Silent_p.K70K|CSMD3_ENST00000455883.2_Silent_p.K70K|CSMD3_ENST00000343508.3_Silent_p.K30K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	70	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTAAGTCCTTTTAAAGTTC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(208-210)aaA>aaG		CUB and Sushi multiple domains 3							107.0	109.0	108.0					8																	114326991		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114326991T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.210A>G	8.37:g.114326991T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.K70K|CSMD3_ENST00000352409.3_Silent_p.K70K|CSMD3_ENST00000343508.3_Silent_p.K30K	p.K70K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			2	454	-			70			CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.210A>G	CCDS6315.1																																																																																				0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	147	0	0	0	6.4e-05	0	3	147				
IGFN1	91156	broad.mit.edu	37	1	201182494	201182494	+	Missense_Mutation	SNP	G	G	T	rs200607352		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:201182494G>T	ENST00000335211.4	+	12	8603	c.8473G>T	c.(8473-8475)Gct>Tct	p.A2825S	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGTCAGGGGCTGAGGTTGG	0.622																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8473-8475)Gct>Tct		immunoglobulin-like and fibronectin type III domain containing 1							33.0	30.0	31.0					1																	201182494		2202	4299	6501	SO:0001583	missense	91156							g.chr1:201182494G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8473G>T	1.37:g.201182494G>T	ENSP00000334714:p.Ala2825Ser					IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	p.A2825S	NM_001164586.1	NP_001158058.1					12	8603	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8473G>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.862|7.862	0.726322|0.726322	0.15439|0.15439	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|T	0.50277|0.67865	0.75|-0.29	3.54|3.54	-0.0664|-0.0664	0.13764|0.13764	.|.	.|.	.|.	.|.	.|.	T|T	0.42471|0.42471	0.1204|0.1204	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36432|0.36432	-0.9748|-0.9748	7|7	0.13470|0.62326	T|D	0.59|0.03	.|.	3.9913|3.9913	0.09538|0.09538	0.1273:0.0:0.4674:0.4053|0.1273:0.0:0.4674:0.4053	.|.	.|.	.|.	.|.	S|V	2825|242	ENSP00000334714:A2825S|ENSP00000387975:G242V	ENSP00000334714:A2825S|ENSP00000387975:G242V	A|G	+|+	1|2	0|0	IGFN1|IGFN1	199449117|199449117	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.687000|0.687000	0.40016|0.40016	0.075000|0.075000	0.14686|0.14686	-0.004000|-0.004000	0.14419|0.14419	0.491000|0.491000	0.48974|0.48974	GCT|GGC		0.622	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		10	13	1	0	2.17888e-05	0.000442599	0.000145985	10	13				
IGHV3-9	28451	broad.mit.edu	37	14	106552433	106552433	+	RNA	SNP	C	C	A	rs587669797	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr14:106552433C>A	ENST00000390600.2	-	0	285									immunoglobulin heavy variable 3-9																		CCAACTAATACCTGAGACCCA	0.532													.|||	3	0.000599042	0.0015	0.0	5008	,	,		7137	0.001		0.0	False		,,,				2504	0.0					ENST00000390600.2																			0																				102.0	80.0	88.0					14																	106552433		1841	3433	5274			0							g.chr14:106552433C>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552433C>A														0	285	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.532	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		20	147	1	0	2.94398e-08	0.000958276	2.07628e-07	20	147				
PCDH20	64881	broad.mit.edu	37	13	61986868	61986868	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr13:61986868G>T	ENST00000409186.1	-	5	3469	c.1364C>A	c.(1363-1365)aCc>aAc	p.T455N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T455N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	455	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCTCTTATGGTGAAAAACGC	0.408																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1363-1365)aCc>aAc		protocadherin 20							103.0	103.0	103.0					13																	61986868		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986868G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1364C>A	13.37:g.61986868G>T	ENSP00000386653:p.Thr455Asn					PCDH20_ENST00000409204.4_Missense_Mutation_p.T455N	p.T455N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3469	-		Breast(118;0.195)|Prostate(109;0.229)	428			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1364C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928854	0.73327	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61980	0.06;0.06	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.74906	0.3778	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.72616	-0.4239	10	0.42905	T	0.14	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	455	A8K1K9	.	N	455;455;201	ENSP00000387250:T455N;ENSP00000386653:T455N	ENSP00000351500:T201N	T	-	2	0	PCDH20	60884869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.808000	0.96608	0.650000	0.86243	ACC		0.408	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		42	46	1	0	3.61848e-18	0.00170553	2.69376e-17	42	46				
IGHV3-53	28420	broad.mit.edu	37	14	107048673	107048673	+	RNA	SNP	C	C	T	rs199800310	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr14:107048673C>T	ENST00000390627.2	-	0	567									immunoglobulin heavy variable 3-53																		CACTGTGTCTCTCGCACAGTA	0.567																																						ENST00000390627.2																			0																				78.0	91.0	87.0					14																	107048673		2005	4199	6204			0							g.chr14:107048673C>T	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048673C>T														0	567	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.567	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		7	84	0	0	0	0.000274275	0	7	84				
ECHDC2	55268	broad.mit.edu	37	1	53377423	53377423	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:53377423T>C	ENST00000371522.4	-	2	254	c.161A>G	c.(160-162)aAt>aGt	p.N54S	ECHDC2_ENST00000358358.5_Missense_Mutation_p.N54S|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000536120.1_Missense_Mutation_p.N8S|ECHDC2_ENST00000541281.1_Missense_Mutation_p.N8S	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	54					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCCAAGGCATTGCGGGCAGA	0.592																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(22-24)aAt>aGt		enoyl CoA hydratase domain containing 2							73.0	69.0	70.0					1																	53377423		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377423T>C	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.161A>G	1.37:g.53377423T>C	ENSP00000360577:p.Asn54Ser					ECHDC2_ENST00000358358.5_Missense_Mutation_p.N54S|ECHDC2_ENST00000371522.4_Missense_Mutation_p.N54S|ECHDC2_ENST00000541281.1_Missense_Mutation_p.N8S|ECHDC2_ENST00000480312.2_5'UTR	p.N8S			Q86YB7	ECHD2_HUMAN			5	840	-			54					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.23A>G	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428765	0.83667	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	D;D;D;D;D	0.89681	-2.55;-2.04;-2.55;-2.04;-2.55	4.28	4.28	0.50868	Crotonase, core (1);	0.091062	0.85682	D	0.000000	D	0.96697	0.8922	H	0.99435	4.565	0.53005	D	0.999961	D;P;D	0.58970	0.984;0.923;0.98	D;P;P	0.70935	0.971;0.627;0.753	D	0.97190	0.9857	10	0.87932	D	0	.	11.3957	0.49841	0.0:0.0:0.0:1.0	.	8;54;54	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	S	54;54;8;54;8	ENSP00000360577:N54S;ENSP00000351125:N54S;ENSP00000439264:N8S;ENSP00000441962:N54S;ENSP00000445358:N8S	ENSP00000351125:N54S	N	-	2	0	ECHDC2	53150011	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.048000	0.64238	1.923000	0.55706	0.454000	0.30748	AAT		0.592	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		39	38	0	0	0	0.00195071	0	39	38				
BLMH	642	broad.mit.edu	37	17	28599594	28599594	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr17:28599594A>T	ENST00000261714.6	-	9	1187	c.1013T>A	c.(1012-1014)cTc>cAc	p.L338H	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.L251H	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	338					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CATGTCACTGAGGCCCAGCTT	0.438																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(1012-1014)cTc>cAc		bleomycin hydrolase							229.0	228.0	228.0					17																	28599594		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28599594A>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1013T>A	17.37:g.28599594A>T	ENSP00000261714:p.Leu338His					BLMH_ENST00000394819.3_Missense_Mutation_p.L251H	p.L338H	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			9	1187	-			338					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.1013T>A	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421606	0.83559	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.46451	0.87;0.87	5.91	5.91	0.95273	.	0.047599	0.85682	D	0.000000	T	0.63616	0.2526	M	0.69823	2.125	0.50171	D	0.999859	D;D	0.69078	0.997;0.995	D;D	0.69307	0.945;0.963	T	0.67166	-0.5739	10	0.87932	D	0	-15.7191	15.5295	0.75942	1.0:0.0:0.0:0.0	.	251;338	E7EMN3;Q13867	.;BLMH_HUMAN	H	338;251	ENSP00000261714:L338H;ENSP00000378296:L251H	ENSP00000261714:L338H	L	-	2	0	BLMH	25623720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.254000	0.74563	0.533000	0.62120	CTC		0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		129	155	0	0	0	0.000781405	0	129	155				
IRS1	3667	broad.mit.edu	37	2	227661796	227661796	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr2:227661796C>A	ENST00000305123.5	-	1	2679	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	553					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGGCATCATCTCTGTGTACT	0.622											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1657-1659)gaG>gaT		insulin receptor substrate 1							53.0	55.0	54.0					2																	227661796		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661796C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1659G>T	2.37:g.227661796C>A	ENSP00000304895:p.Glu553Asp		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.E553D	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2679	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	553						Missense_Mutation	SNP	ENST00000305123.5	37	c.1659G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495346	0.26774	.	.	ENSG00000169047	ENST00000305123	T	0.57907	0.37	5.28	4.41	0.53225	.	0.071473	0.56097	D	0.000035	T	0.48960	0.1529	L	0.29908	0.895	0.33991	D	0.649128	D	0.59357	0.985	P	0.52957	0.714	T	0.54563	-0.8275	10	0.12766	T	0.61	-23.7767	13.9436	0.64071	0.0:0.9264:0.0:0.0736	.	553	P35568	IRS1_HUMAN	D	553	ENSP00000304895:E553D	ENSP00000304895:E553D	E	-	3	2	IRS1	227370040	0.984000	0.35163	1.000000	0.80357	0.975000	0.68041	0.697000	0.25556	1.228000	0.43614	0.561000	0.74099	GAG		0.622	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		49	50	1	0	3.21987e-24	0.000781405	2.4655e-23	49	50				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	11	0	0	0	6.4e-05	0	3	11				
SIGLEC12	89858	broad.mit.edu	37	19	52004780	52004780	+	Missense_Mutation	SNP	C	C	G	rs541963042		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:52004780C>G	ENST00000291707.3	-	1	263	c.208G>C	c.(208-210)Gta>Cta	p.V70L	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	70	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCCGGCTTACATGGTCCCCT	0.587																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(208-210)Gta>Cta		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							103.0	86.0	92.0					19																	52004780		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004780C>G	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.208G>C	19.37:g.52004780C>G	ENSP00000291707:p.Val70Leu						p.V70L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	263	-		all_neural(266;0.0199)	70			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.208G>C	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.131	-1.113477	0.01799	.	.	ENSG00000254521	ENST00000291707	T	0.21543	2.0	2.28	-1.71	0.08133	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	L	0.33189	0.99	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26360	-1.0105	9	0.34782	T	0.22	.	5.7659	0.18227	0.0:0.4557:0.0:0.5443	.	70	Q96PQ1	SIG12_HUMAN	L	70	ENSP00000291707:V70L	ENSP00000291707:V70L	V	-	1	0	SIGLEC12	56696592	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.044000	0.00631	-0.977000	0.03537	-1.151000	0.01829	GTA		0.587	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		55	61	0	0	0	0.000781405	0	55	61				
UBASH3B	84959	broad.mit.edu	37	11	122659945	122659945	+	Silent	SNP	C	C	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr11:122659945C>T	ENST00000284273.5	+	6	1284	c.909C>T	c.(907-909)acC>acT	p.T303T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCTTAACCACCGGCTGCTCTG	0.522																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(907-909)acC>acT		ubiquitin associated and SH3 domain containing B							159.0	154.0	156.0					11																	122659945		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659945C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.909C>T	11.37:g.122659945C>T							p.T303T	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1284	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	303			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.909C>T	CCDS31694.1																																																																																				0.522	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		32	188	0	0	0	0.00178596	0	32	188				
COBL	23242	broad.mit.edu	37	7	51096572	51096572	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr7:51096572T>C	ENST00000265136.7	-	10	2386	c.2221A>G	c.(2221-2223)Agt>Ggt	p.S741G	COBL_ENST00000395542.2_Missense_Mutation_p.S823G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	741					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCGTGAGGACTCACCAAGTTC	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2467-2469)Agt>Ggt		cordon-bleu WH2 repeat protein							96.0	81.0	86.0					7																	51096572		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096572T>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2221A>G	7.37:g.51096572T>C	ENSP00000265136:p.Ser741Gly					COBL_ENST00000265136.7_Missense_Mutation_p.S741G	p.S823G			O75128	COBL_HUMAN			12	2651	-	Glioma(55;0.08)		741					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2467A>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332259	0.41297	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.13196	2.62;2.61;2.63;2.63	5.83	4.67	0.58626	.	0.526206	0.17517	N	0.171419	T	0.14184	0.0343	L	0.58101	1.795	0.22050	N	0.999391	B;B;B;P;B	0.38827	0.001;0.001;0.002;0.649;0.037	B;B;B;B;B	0.34452	0.004;0.004;0.002;0.183;0.016	T	0.11966	-1.0566	10	0.46703	T	0.11	.	9.9831	0.41826	0.0:0.1413:0.0:0.8587	.	741;798;741;823;283	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	G	741;633;626;823	ENSP00000265136:S741G;ENSP00000401204:S633G;ENSP00000413498:S626G;ENSP00000378912:S823G	ENSP00000265136:S741G	S	-	1	0	COBL	51064066	0.145000	0.22656	0.941000	0.38009	0.580000	0.36256	1.492000	0.35594	1.021000	0.39600	0.533000	0.62120	AGT		0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		43	37	0	0	0	0.0025221	0	43	37				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	147	0	0	0	0.000602214	0	4	147				
ZNF227	7770	broad.mit.edu	37	19	44739570	44739570	+	Silent	SNP	C	C	T	rs372984825		TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:44739570C>T	ENST00000313040.7	+	6	1192	c.987C>T	c.(985-987)tgC>tgT	p.C329C	ZNF227_ENST00000589005.1_Silent_p.C278C|ZNF227_ENST00000391961.2_Silent_p.C278C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GCGACAGTTGCGGCAAGGGAT	0.393																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(985-987)tgC>tgT		zinc finger protein 227							69.0	70.0	70.0					19																	44739570		2203	4300	6503	SO:0001819	synonymous_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739570C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.987C>T	19.37:g.44739570C>T						ZNF227_ENST00000391961.2_Silent_p.C278C|ZNF227_ENST00000589005.1_Silent_p.C278C	p.C329C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1192	+		Prostate(69;0.0435)	329					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.987C>T	CCDS12636.1																																																																																				0.393	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		25	43	0	0	0	0.00047179	0	25	43				
RNF19B	127544	broad.mit.edu	37	1	33415316	33415316	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr1:33415316C>T	ENST00000373456.7	-	2	694	c.695G>A	c.(694-696)gGt>gAt	p.G232D	RNF19B_ENST00000356990.5_Missense_Mutation_p.G232D|RNF19B_ENST00000235150.4_Missense_Mutation_p.G232D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	232					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTCTGGCAACCTTCCCTCTC	0.488																																						ENST00000356990.5																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(694-696)gGt>gAt		ring finger protein 19B							133.0	110.0	118.0					1																	33415316		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33415316C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.695G>A	1.37:g.33415316C>T	ENSP00000362555:p.Gly232Asp					RNF19B_ENST00000235150.4_Missense_Mutation_p.G232D|RNF19B_ENST00000373456.7_Missense_Mutation_p.G232D	p.G232D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			2	694	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	232					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.695G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611083	0.87258	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.63255	-0.03;-0.03;-0.03	5.13	5.13	0.70059	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	T	0.80650	-0.1288	10	0.52906	T	0.07	.	18.954	0.92650	0.0:1.0:0.0:0.0	.	232;232;232	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	D	232;232;232;131	ENSP00000362555:G232D;ENSP00000349482:G232D;ENSP00000235150:G232D	ENSP00000235150:G232D	G	-	2	0	RNF19B	33187903	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.813000	0.86123	2.555000	0.86185	0.467000	0.42956	GGT		0.488	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		39	31	0	0	0	0.00111076	0	39	31				
RORB	6096	broad.mit.edu	37	9	77257585	77257585	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr9:77257585C>T	ENST00000396204.2	+	4	524	c.524C>T	c.(523-525)tCc>tTc	p.S175F	RORB_ENST00000376896.3_Missense_Mutation_p.S164F			Q92753	RORB_HUMAN	RAR-related orphan receptor B	175	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGTCAGCCGTCCCCTGATCAG	0.493																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(490-492)tCc>tTc		RAR-related orphan receptor B							87.0	76.0	80.0					9																	77257585		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257585C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.524C>T	9.37:g.77257585C>T	ENSP00000379507:p.Ser175Phe					RORB_ENST00000396204.2_Missense_Mutation_p.S175F	p.S164F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			4	1103	+			175			Hinge (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.491C>T		.	.	.	.	.	.	.	.	.	.	C	15.38	2.817637	0.50633	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.94576	-3.46;-3.46	5.95	5.04	0.67666	.	0.403240	0.31123	N	0.008208	D	0.94574	0.8252	M	0.82056	2.57	0.80722	D	1	B;B	0.29085	0.232;0.124	B;B	0.31290	0.127;0.052	D	0.93390	0.6751	10	0.59425	D	0.04	.	16.4469	0.83937	0.1323:0.8677:0.0:0.0	.	175;164	Q92753;Q58EY0	RORB_HUMAN;.	F	164;175	ENSP00000366093:S164F;ENSP00000379507:S175F	ENSP00000366093:S164F	S	+	2	0	RORB	76447405	1.000000	0.71417	0.894000	0.35097	0.925000	0.55904	5.594000	0.67557	1.483000	0.48342	0.655000	0.94253	TCC		0.493	RORB-201	KNOWN	basic	protein_coding	protein_coding				28	40	0	0	0	0.000878237	0	28	40				
CAMK2A	815	broad.mit.edu	37	5	149669141	149669141	+	Silent	SNP	G	G	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr5:149669141G>A	ENST00000348628.6	-	1	713	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CAMK2A_ENST00000398376.3_Silent_p.F16F	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTCCTCGAAGAGCTGGT	0.632																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(46-48)ttC>ttT		calcium/calmodulin-dependent protein kinase II alpha							88.0	101.0	97.0					5																	149669141		2143	4271	6414	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149669141G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.48C>T	5.37:g.149669141G>A						CAMK2A_ENST00000398376.3_Silent_p.F16F	p.F16F	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	713	-		all_hematologic(541;0.224)	16			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.48C>T	CCDS43386.1																																																																																				0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		43	37	0	0	0	0.000781405	0	43	37				
TG	7038	broad.mit.edu	37	8	133900509	133900510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr8:133900509_133900510insT	ENST00000220616.4	+	10	2497_2498	c.2457_2458insT	c.(2458-2460)tttfs	p.F820fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.F820fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	820	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGTCTCTTTATTCAAAG	0.515																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2455-2460)ctttatfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900509_133900510insT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2460dupT	8.37:g.133900512_133900512dupT	ENSP00000220616:p.Phe820fs					TG_ENST00000377869.1_Frame_Shift_Ins_p.Y820fs	p.Y820fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2497_2498	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	820			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.2457_2458insT	CCDS34944.1																																																																																				0.515	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		34	50						34	50	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117226764	117226765	+	Splice_Site	INS	-	-	A			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr10:117226764_117226765insA	ENST00000355044.3	+	23	3622		c.e23+2		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTCAACAGGTAAAAAAATGTT	0.287																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e23+2		attractin-like 1																																				SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117226764_117226765insA	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3496+2->A	10.37:g.117226771_117226771dupA						ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3622	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	INS	ENST00000355044.3	37		CCDS7592.1																																																																																				0.287	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	2	4						2	4	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr13:28713125delC	ENST00000380958.3	+	1	483	c.331delC	c.(331-333)cccfs	p.P112fs	PAN3-AS1_ENST00000563843.1_RNA|PAN3_ENST00000399613.1_5'Flank	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771																																						ENST00000380958.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(331-333)ccfs		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							2.0	2.0	2.0					13																	28713125		1117	2602	3719	SO:0001589	frameshift_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28713125delC	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.331delC	13.37:g.28713125delC	ENSP00000370345:p.Pro112fs						p.P112fs	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	1	483	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	112			Interaction with polyadenylate-binding protein.			Frame_Shift_Del	DEL	ENST00000380958.3	37	c.331delC	CCDS9329.2																																																																																				0.771	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		2	4						2	4	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		2	4						2	4	---	---	---	---
RP11-640N20.9	0	broad.mit.edu	37	17	30439692	30439693	+	RNA	INS	-	-	GAGGC	rs150029068	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr17:30439692_30439693insGAGGC	ENST00000580412.1	-	0	43																											GGGCCAGCGCTGAGGCCGCCGC	0.589														89	0.0177716	0.0658	0.0014	5008	,	,		15629	0.0		0.001	False		,,,				2504	0.0					ENST00000580412.1																			0																																																			0							g.chr17:30439692_30439693insGAGGC																													17.37:g.30439693_30439697dupGAGGC														0	43	-									RNA	INS	ENST00000580412.1	37																																																																																						0.589	RP11-640N20.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000447095.1			4	5						4	5	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2337757	2337757	+	RNA	DEL	G	G	-	rs531282710	byFrequency	TCGA-EM-A2CM-01A-11D-A17V-08	TCGA-EM-A2CM-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38326783-dcfb-406b-8c84-137e909da09f	283aa2e1-e1f6-444c-b64d-9c1571247c1b	g.chr19:2337757delG	ENST00000452401.2	+	0	449							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGATCTGGGCCGAGTGT	0.637													GGG|GGG|GG|deletion	12	0.00239617	0.0091	0.0	5008	,	,		17665	0.0		0.0	False		,,,				2504	0.0					ENST00000452401.2																			0													signal peptide peptidase like 2B																																						56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2337757delG		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2337757delG						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	449	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	ENST00000452401.2	37																																																																																						0.637	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		3	3						3	3	---	---	---	---
