#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
FANK1	92565	broad.mit.edu	37	10	127693465	127693465	+	Silent	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:127693465G>A	ENST00000368693.1	+	7	656	c.552G>A	c.(550-552)gcG>gcA	p.A184A	FANK1_ENST00000368695.1_Silent_p.A178A|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TAATGCTGGCGTGCTATGCGG	0.507																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(532-534)gcG>gcA		fibronectin type III and ankyrin repeat domains 1							145.0	135.0	138.0					10																	127693465		2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127693465G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.552G>A	10.37:g.127693465G>A						FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Silent_p.A184A	p.A178A	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	656	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	184					Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.534G>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	6.605	0.480034	0.12581	.	.	ENSG00000203780	ENST00000456942	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75408	-0.3328	4	.	.	.	-27.7352	15.0886	0.72174	0.6039:0.3131:0.083:0.0	.	.	.	.	H	79	.	.	R	+	2	0	FANK1	127683455	0.000000	0.05858	0.016000	0.15963	0.706000	0.40770	-4.856000	0.00177	-3.482000	0.00155	-0.302000	0.09304	CGT		0.507	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	81	0	0	0	1	0	6	81				
NIPBL	25836	broad.mit.edu	37	5	37026330	37026330	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:37026330G>A	ENST00000282516.8	+	31	6208		c.e31-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCTTCTAGAAATTAGTAA	0.313																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e31-1		Nipped-B homolog (Drosophila)							33.0	33.0	33.0					5																	37026330		2203	4300	6503	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37026330G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5710-1G>A	5.37:g.37026330G>A						NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		31	6208	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806962	0.90623	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37062087	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.444000	0.97578	2.885000	0.99019	0.655000	0.94253	.		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	13	24	0	0	0	1	0	13	24				
KCNQ4	9132	broad.mit.edu	37	1	41296926	41296926	+	Missense_Mutation	SNP	G	G	A	rs371301199		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:41296926G>A	ENST00000347132.5	+	10	1545	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	488					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TTCAATGACCGCACCCGCTTC	0.652																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1462-1464)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	43.0	37.0	39.0		1463,1301	5.1	1.0	1		39	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	KCNQ4	NM_004700.3,NM_172163.2	29,29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	488/696,434/642	41296926	1,12999	2203	4297	6500	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41296926G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1463G>A	1.37:g.41296926G>A	ENSP00000262916:p.Arg488His					KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	p.R488H	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		10	1545	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	488					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1463G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086971	0.94100	0.0	1.16E-4	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99762	-6.67;-6.67	5.13	5.13	0.70059	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.249579	0.40385	N	0.001119	D	0.99680	0.9880	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.981;0.999	B;D	0.65323	0.325;0.934	D	0.97541	1.0086	10	0.66056	D	0.02	-23.503	16.491	0.84201	0.0:0.0:1.0:0.0	.	434;488	P56696-2;P56696	.;KCNQ4_HUMAN	H	488;434	ENSP00000262916:R488H;ENSP00000423756:R434H	ENSP00000262916:R488H	R	+	2	0	KCNQ4	41069513	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.619000	0.98369	2.571000	0.86741	0.543000	0.68304	CGC		0.652	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		5	2	0	0	0	1	0	5	2				
PDIA4	9601	broad.mit.edu	37	7	148709068	148709068	+	Silent	SNP	G	G	A	rs534122693	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:148709068G>A	ENST00000286091.4	-	6	1081	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	283	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGGGAGGCCCGGACTGCTCGA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		17913	0.0		0.0	False		,,,				2504	0.002					ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(847-849)tcC>tcT		protein disulfide isomerase family A, member 4							78.0	73.0	75.0					7																	148709068		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148709068G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.849C>T	7.37:g.148709068G>A							p.S283S	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		6	1081	-	Melanoma(164;0.15)		283			Thioredoxin 2.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.849C>T	CCDS5893.1																																																																																				0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		4	60	0	0	0	1	0	4	60				
ATP4B	496	broad.mit.edu	37	13	114312443	114312443	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr13:114312443T>A	ENST00000335288.4	-	1	58	c.17A>T	c.(16-18)gAg>gTg	p.E6V		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	6					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			CGTCTTCTTCTCCTGCAGAGC	0.642																																						ENST00000335288.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(16-18)gAg>gTg		ATPase, H+/K+ exchanging, beta polypeptide	Rabeprazole(DB01129)						40.0	38.0	39.0					13																	114312443		2203	4299	6502	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114312443T>A		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.17A>T	13.37:g.114312443T>A	ENSP00000334216:p.Glu6Val						p.E6V	NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	all cancers(43;0.171)		1	58	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	6					B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.17A>T	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939892	0.52972	.	.	ENSG00000186009	ENST00000335288	T	0.33438	1.41	4.41	4.41	0.53225	.	0.066683	0.56097	D	0.000034	T	0.53465	0.1798	M	0.73598	2.24	0.46749	D	0.999181	D	0.76494	0.999	D	0.72075	0.976	T	0.57820	-0.7745	10	0.59425	D	0.04	-48.4716	12.7865	0.57510	0.0:0.0:0.0:1.0	.	6	P51164	ATP4B_HUMAN	V	6	ENSP00000334216:E6V	ENSP00000334216:E6V	E	-	2	0	ATP4B	113360444	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	6.060000	0.71141	1.838000	0.53458	0.454000	0.30748	GAG		0.642	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		5	29	0	0	0	1	0	5	29				
CACNA1I	8911	broad.mit.edu	37	22	39994226	39994226	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39994226G>A	ENST00000402142.3	+	2	307	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000336649.4_Missense_Mutation_p.D103N	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	103					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGCCGTGCGACGACATGGA	0.632																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(307-309)Gac>Aac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						65.0	70.0	68.0					22																	39994226		2153	4252	6405	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39994226G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.307G>A	22.37:g.39994226G>A	ENSP00000385019:p.Asp103Asn					CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N	p.D103N			Q9P0X4	CAC1I_HUMAN			4	307	+	Melanoma(58;0.0749)		103					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.307G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514711	0.64634	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	4.03	3.0	0.34707	.	0.558749	0.17053	N	0.188875	D	0.90580	0.7047	N	0.12182	0.205	0.37316	D	0.909351	P;B;P;P	0.49358	0.727;0.093;0.923;0.585	B;B;B;B	0.33620	0.108;0.056;0.167;0.113	D	0.90602	0.4545	10	0.56958	D	0.05	.	13.065	0.59028	0.0:0.0:0.838:0.162	.	103;103;103;103	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	N	103	ENSP00000385019:D103N;ENSP00000384093:D103N;ENSP00000383887:D103N;ENSP00000385680:D103N;ENSP00000337829:D103N;ENSP00000383028:D103N	ENSP00000337829:D103N	D	+	1	0	CACNA1I	38324172	1.000000	0.71417	0.197000	0.23402	0.973000	0.67179	7.686000	0.84128	0.900000	0.36469	0.549000	0.68633	GAC		0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	16	0	0	0	1	0	3	16				
MYO1H	283446	broad.mit.edu	37	12	109826586	109826586	+	Silent	SNP	G	G	A	rs548292658		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:109826586G>A	ENST00000431443.2	+	1	63	c.63G>A	c.(61-63)gcG>gcA	p.A21A	MYO1H_ENST00000310903.5_Silent_p.A21A	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	21	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TATTGGACGCGTACACCAGCG	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0					ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(61-63)gcG>gcA		myosin IH							226.0	232.0	230.0					12																	109826586		2105	4236	6341	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109826586G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.63G>A	12.37:g.109826586G>A						MYO1H_ENST00000431443.2_Silent_p.A21A	p.A21A			B4DNW6	B4DNW6_HUMAN			2	169	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.63G>A																																																																																					0.532	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	208	0	0	0	1	0	4	208				
CIC	23152	broad.mit.edu	37	19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42791853C>T	ENST00000575354.2	+	5	779	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1156*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3466-3468)Cag>Tag		capicua transcriptional repressor							80.0	72.0	75.0					19																	42791853		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791853C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.739C>T	19.37:g.42791853C>T	ENSP00000458663:p.Gln247*					CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	p.Q1156*			Q96RK0	CIC_HUMAN			6	3534	+		Prostate(69;0.00682)	247			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3466C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	41	8.861012	0.98980	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5875	14.5138	0.67807	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000160740:Q247X	Q	+	1	0	CIC	47483693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	2.284000	0.76573	0.555000	0.69702	CAG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	23	0	0	0	1	0	4	23				
IGDCC4	57722	broad.mit.edu	37	15	65678327	65678327	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr15:65678327C>A	ENST00000352385.2	-	18	3231	c.3022G>T	c.(3022-3024)Ggc>Tgc	p.G1008C	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1008						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1008C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGGGGGCCAAGCCGAGCT	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			1	Substitution - Missense(1)	p.G1008C(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3022-3024)Ggc>Tgc		immunoglobulin superfamily, DCC subclass, member 4							8.0	10.0	9.0					15																	65678327		2138	4194	6332	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65678327C>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3022G>T	15.37:g.65678327C>A	ENSP00000319623:p.Gly1008Cys		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.G1008C	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3231	-			1008					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3022G>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	8.754	0.921882	0.17982	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.60171	0.21	4.82	4.82	0.62117	.	0.212304	0.33057	N	0.005326	T	0.53045	0.1772	L	0.53249	1.67	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.51764	-0.8664	10	0.59425	D	0.04	-14.5519	13.2653	0.60131	0.0:1.0:0.0:0.0	.	1008	Q8TDY8	IGDC4_HUMAN	C	1008;737	ENSP00000319623:G1008C	ENSP00000319623:G1008C	G	-	1	0	IGDCC4	63465380	0.117000	0.22190	0.024000	0.17045	0.075000	0.17131	3.258000	0.51507	2.503000	0.84419	0.561000	0.74099	GGC		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		7	8	1	0	1.06961e-07	1	1.24788e-07	7	8				
MFSD10	10227	broad.mit.edu	37	4	2933825	2933825	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr4:2933825G>A	ENST00000329687.4	-	6	1283	c.749C>T	c.(748-750)gCc>gTc	p.A250V	MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	250					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAGCAGGGCCAGGGGGCT	0.672																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(748-750)gCc>gTc		major facilitator superfamily domain containing 10							25.0	25.0	25.0					4																	2933825		2198	4296	6494	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2933825G>A	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.749C>T	4.37:g.2933825G>A	ENSP00000332646:p.Ala250Val					MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V	p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	1283	-			250					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.749C>T	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480010	0.63849	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	4.91	4.07	0.47477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.112475	0.64402	D	0.000013	D	0.87720	0.6248	M	0.79475	2.455	0.54753	D	0.999989	D;D;D;D	0.69078	0.997;0.997;0.992;0.997	D;D;D;D	0.70935	0.971;0.971;0.928;0.971	D	0.86165	0.1596	10	0.33141	T	0.24	-4.084	11.9288	0.52835	0.0861:0.0:0.9139:0.0	.	250;250;250;250	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	V	250	ENSP00000426907:A250V;ENSP00000347619:A250V;ENSP00000332646:A250V;ENSP00000425757:A250V;ENSP00000423402:A250V	ENSP00000332646:A250V	A	-	2	0	MFSD10	2903623	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	4.543000	0.60684	1.073000	0.40885	-0.154000	0.13518	GCC		0.672	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		6	12	0	0	0	1	0	6	12				
CCDC180	100499483	broad.mit.edu	37	9	100117175	100117175	+	Splice_Site	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr9:100117175C>A	ENST00000357054.1	+	35	4129	c.3194C>A	c.(3193-3195)gCc>gAc	p.A1065D	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.A1094D|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Splice_Site_p.A1094D			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1065						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCTGTACAGGCCAATGATGTC	0.463																																						ENST00000375202.2																			0											c.e38-1		coiled-coil domain containing 180							77.0	77.0	77.0					9																	100117175		2203	4300	6503	SO:0001630	splice_region_variant	100499483							g.chr9:100117175C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3193-1C>A	9.37:g.100117175C>A						CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Splice_Site_p.A1065_splice|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Splice_Site_p.A1094_splice	p.A1094_splice							38	4633	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37	c.3279_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971473	0.74246	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.13901	2.84;2.55;2.55	4.94	4.94	0.65067	.	0.292508	0.34223	N	0.004152	T	0.34832	0.0911	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01319	-1.1386	10	0.27082	T	0.32	-16.5234	16.475	0.84130	0.0:1.0:0.0:0.0	.	1233;1065	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	D	1065;1094;1094	ENSP00000349562:A1065D;ENSP00000364348:A1094D;ENSP00000434727:A1094D	ENSP00000349562:A1065D	A	+	2	0	C9orf174	99156996	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.740000	0.68629	2.669000	0.90835	0.655000	0.94253	GCC		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	10	66	1	0	6.40141e-05	1	7.07524e-05	10	66				
GIGYF2	26058	broad.mit.edu	37	2	233712219	233712219	+	Nonsense_Mutation	SNP	C	C	T	rs527464858	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:233712219C>T	ENST00000409547.1	+	29	3933	c.3622C>T	c.(3622-3624)Cag>Tag	p.Q1208*	GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1208	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		tcagcagcagcagctgccaca	0.572																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3688-3690)Cag>Tag		GRB10 interacting GYF protein 2							16.0	18.0	17.0					2																	233712219		2198	4289	6487	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233712219C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3622C>T	2.37:g.233712219C>T	ENSP00000386537:p.Gln1208*					GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*	p.Q1230*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3885	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1208			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.3688C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302574	0.98750	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	.	.	.	5.3	5.3	0.74995	.	0.921754	0.09517	N	0.791427	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-3.325	15.6832	0.77388	0.0:1.0:0.0:0.0	.	.	.	.	X	1230;1208;1230;1208;1202;1229	.	ENSP00000362664:Q1208X	Q	+	1	0	GIGYF2	233420463	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	5.253000	0.65452	2.476000	0.83614	0.655000	0.94253	CAG		0.572	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		9	84	0	0	0	1	0	9	84				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	5	1	0	6.4e-05	1	7.07524e-05	3	5				
SLC35A4	113829	broad.mit.edu	37	5	139947214	139947214	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:139947214G>T	ENST00000514199.1	+	2	2146	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	154	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCGGGAGCCTGCTATGC	0.637																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(460-462)Gcc>Tcc		solute carrier family 35, member A4							37.0	37.0	37.0					5																	139947214		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947214G>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.460G>T	5.37:g.139947214G>T	ENSP00000424566:p.Ala154Ser					SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S|APBB3_ENST00000507279.1_Intron	p.A154S			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2146	+			154			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.460G>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	5.819	0.335368	0.11013	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.70869	-0.52;-0.52	4.86	3.99	0.46301	.	0.225836	0.36555	N	0.002534	T	0.63861	0.2547	L	0.47716	1.5	0.30649	N	0.755672	B	0.18013	0.025	B	0.27887	0.084	T	0.60801	-0.7191	9	.	.	.	-13.2984	12.6626	0.56822	0.0805:0.0:0.9195:0.0	.	154	Q96G79	S35A4_HUMAN	S	154	ENSP00000327133:A154S;ENSP00000424566:A154S	.	A	+	1	0	SLC35A4	139927398	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	3.632000	0.54287	1.277000	0.44412	0.407000	0.27541	GCC		0.637	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		5	46	1	0	0.000602214	1	0.000616903	5	46				
QARS	5859	broad.mit.edu	37	3	49141306	49141306	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr3:49141306A>G	ENST00000306125.6	-	3	702	c.365T>C	c.(364-366)aTt>aCt	p.I122T	QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I140T			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	122					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCCTCCTCAATCTGCTCTGG	0.592																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(364-366)aTt>aCt		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						84.0	75.0	78.0					3																	49141306		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49141306A>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.365T>C	3.37:g.49141306A>G	ENSP00000307567:p.Ile122Thr					QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000420147.2_Missense_Mutation_p.I140T	p.I122T			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	702	-			122					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.365T>C	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971910	0.92919	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.30981	1.63;1.51	5.91	5.91	0.95273	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.478;0.478	D;B;B	0.79784	0.993;0.156;0.156	T	0.60454	-0.7260	10	0.66056	D	0.02	-14.6	16.3483	0.83171	1.0:0.0:0.0:0.0	.	140;111;122	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	T	122;111;140;164;122	ENSP00000307567:I122T;ENSP00000390015:I111T	ENSP00000307567:I122T	I	-	2	0	QARS	49116310	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.156000	0.77453	2.254000	0.74563	0.533000	0.62120	ATT		0.592	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		7	29	0	0	0	1	0	7	29				
CCND1	595	broad.mit.edu	37	11	69465934	69465934	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr11:69465934A>G	ENST00000227507.2	+	5	999	c.772A>G	c.(772-774)Agc>Ggc	p.S258G	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	258					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTGGAGTCAAGCCTGCGCCA	0.667			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(772-774)Agc>Ggc		cyclin D1	Arsenic trioxide(DB01169)						36.0	31.0	33.0					11																	69465934		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465934A>G	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.772A>G	11.37:g.69465934A>G	ENSP00000227507:p.Ser258Gly	Multiple Myeloma(6;0.086)					p.S258G	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	999	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		258					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.772A>G	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871059	0.91587	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.23147	1.92	5.15	5.15	0.70609	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	M	0.79258	2.445	0.80722	D	1	B	0.30281	0.275	B	0.31686	0.134	T	0.13282	-1.0515	10	0.38643	T	0.18	.	14.9917	0.71393	1.0:0.0:0.0:0.0	.	258	P24385	CCND1_HUMAN	G	258;124	ENSP00000227507:S258G	ENSP00000227507:S258G	S	+	1	0	CCND1	69175115	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.556000	0.90697	1.947000	0.56498	0.459000	0.35465	AGC		0.667	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		14	16	0	0	0	1	0	14	16				
TUBD1	51174	broad.mit.edu	37	17	57968233	57968233	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:57968233G>T	ENST00000592426.1	-	1	131	c.131C>A	c.(130-132)gCa>gAa	p.A44E	TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000325752.3_Missense_Mutation_p.A44E|TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|RPS6KB1_ENST00000393021.3_5'Flank|RPS6KB1_ENST00000225577.4_5'Flank|RPS6KB1_ENST00000443572.2_5'Flank|RPS6KB1_ENST00000406116.3_5'Flank|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E			Q9UJT1	TBD_HUMAN	tubulin, delta 1	44					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTTGCAAGATGCTTGATATGC	0.458																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(130-132)gCa>gAa		tubulin, delta 1							200.0	190.0	193.0					17																	57968233		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57968233G>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.131C>A	17.37:g.57968233G>T	ENSP00000468518:p.Ala44Glu					TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E|TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E	p.A44E	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		2	408	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		44					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.131C>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147796	0.21288	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.74	3.62	0.41486	Tubulin/FtsZ, GTPase domain (3);	0.375992	0.31041	N	0.008372	T	0.42877	0.1222	N	0.04116	-0.275	0.28232	N	0.926075	B;B;B;B;B	0.14012	0.001;0.001;0.001;0.0;0.009	B;B;B;B;B	0.15870	0.014;0.004;0.004;0.009;0.006	T	0.45629	-0.9248	10	0.72032	D	0.01	-9.9662	10.2056	0.43112	0.0714:0.0:0.7291:0.1994	.	44;44;44;44;44	E9PCA7;Q9UJT1-3;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	E	44	ENSP00000320797:A44E;ENSP00000342399:A44E;ENSP00000342561:A44E;ENSP00000377785:A44E;ENSP00000365262:A44E	ENSP00000320797:A44E	A	-	2	0	TUBD1	55323015	0.676000	0.27567	1.000000	0.80357	0.986000	0.74619	1.557000	0.36299	1.572000	0.49736	0.650000	0.86243	GCA		0.458	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		4	125	1	0	0.00116845	1	0.00116845	4	125				
ING5	84289	broad.mit.edu	37	2	242650843	242650843	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:242650843G>T	ENST00000313552.6	+	4	354	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Missense_Mutation_p.D110Y	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	110					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTTGAAGCAGATCTGAAGGA	0.393																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(328-330)Gat>Tat		inhibitor of growth family, member 5							149.0	164.0	159.0					2																	242650843		2203	4296	6499	SO:0001583	missense	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650843G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.328G>T	2.37:g.242650843G>T	ENSP00000322142:p.Asp110Tyr					ING5_ENST00000406941.1_Missense_Mutation_p.D110Y|ING5_ENST00000482774.1_3'UTR	p.D110Y	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	354	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	110					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.328G>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795711	0.70452	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	5.83	0.93111	.	0.047665	0.85682	D	0.000000	T	0.77471	0.4135	M	0.67397	2.05	0.80722	D	1	D;D	0.64830	0.972;0.994	P;P	0.61201	0.736;0.885	T	0.78401	-0.2218	9	0.87932	D	0	-2.1476	20.1184	0.97949	0.0:0.0:1.0:0.0	.	110;110	Q8WYH8;B7Z6R2	ING5_HUMAN;.	Y	110	.	ENSP00000322142:D110Y	D	+	1	0	ING5	242299516	1.000000	0.71417	0.366000	0.25914	0.236000	0.25371	8.714000	0.91412	2.769000	0.95229	0.655000	0.94253	GAT		0.393	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		79	121	1	0	6.44939e-38	1	8.20832e-38	79	121				
CD97	976	broad.mit.edu	37	19	14499539	14499539	+	Silent	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(97-99)aaC>aaT		CD97 molecule							131.0	134.0	133.0					19																	14499539		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14499539C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.99C>T	19.37:g.14499539C>T						CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000357355.3_Silent_p.N33N	p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			3	179	+			33			EGF-like 1.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.99C>T	CCDS32929.1																																																																																				0.587	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		5	171	0	0	0	1	0	5	171				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	93	0	0	0	1	0	6	93				
PRMT8	56341	broad.mit.edu	37	12	3701451	3701451	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:3701451A>G	ENST00000382622.3	+	9	1424	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	345	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGAAGATTACCTCACTGTC	0.532																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1033-1035)tAc>tGc		protein arginine methyltransferase 8							151.0	151.0	151.0					12																	3701451		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701451A>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1034A>G	12.37:g.3701451A>G	ENSP00000372067:p.Tyr345Cys					PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C|PRMT8_ENST00000261252.4_3'UTR	p.Y345C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1424	+			345					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1034A>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100689	0.37048	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78364	-1.17;-1.17	5.24	4.1	0.47936	.	0.054259	0.85682	N	0.000000	T	0.74068	0.3668	M	0.71036	2.16	0.58432	D	0.999999	B;B	0.15141	0.009;0.012	B;B	0.19148	0.024;0.016	T	0.68292	-0.5447	10	0.39692	T	0.17	.	9.1713	0.37083	0.9128:0.0:0.0872:0.0	.	336;345	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	C	336;345	ENSP00000414507:Y336C;ENSP00000372067:Y345C	ENSP00000372067:Y345C	Y	+	2	0	PRMT8	3571712	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.264000	0.65513	0.831000	0.34780	0.459000	0.35465	TAC		0.532	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		39	72	0	0	0	1	0	39	72				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	5	0	0	0	1	0	3	5				
IFIH1	64135	broad.mit.edu	37	2	163124706	163124706	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:163124706G>T	ENST00000263642.2	-	14	3093	c.2698C>A	c.(2698-2700)Cca>Aca	p.P900T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	900					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTAGTGATGGGTTATTCTTG	0.363																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2698-2700)Cca>Aca		interferon induced with helicase C domain 1							131.0	138.0	136.0					2																	163124706		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124706G>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2698C>A	2.37:g.163124706G>T	ENSP00000263642:p.Pro900Thr						p.P900T	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			14	3093	-			900					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2698C>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649440	0.67358	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.31	5.31	0.75309	.	0.360073	0.32563	N	0.005937	T	0.28001	0.0690	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.01065	-1.1463	10	0.56958	D	0.05	-6.3142	18.9902	0.92788	0.0:0.0:1.0:0.0	.	900	Q9BYX4	IFIH1_HUMAN	T	900	ENSP00000263642:P900T	ENSP00000263642:P900T	P	-	1	0	IFIH1	162832952	1.000000	0.71417	0.949000	0.38748	0.450000	0.32258	8.993000	0.93524	2.486000	0.83907	0.650000	0.86243	CCA		0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		21	39	1	0	2.39187e-15	1	2.95467e-15	21	39				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	54	0	0	0	1	0	32	54				
KIAA0319L	79932	broad.mit.edu	37	1	35944787	35944787	+	Silent	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:35944787A>G	ENST00000325722.3	-	4	927	c.693T>C	c.(691-693)agT>agC	p.S231S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	231						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTTAGGGGACTGGAAATTG	0.408																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(691-693)agT>agC		KIAA0319-like							110.0	112.0	112.0					1																	35944787		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35944787A>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.693T>C	1.37:g.35944787A>G							p.S231S	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			4	927	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	231					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.693T>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384518	0.25031	.	.	ENSG00000142687	ENST00000431916	T	0.63255	-0.03	5.45	4.33	0.51752	.	0.256888	0.33834	N	0.004504	T	0.62768	0.2455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58679	-0.7594	7	0.34782	T	0.22	-3.6309	8.2599	0.31779	0.9094:0.0:0.0906:0.0	.	.	.	.	P	95	ENSP00000393862:S95P	ENSP00000393862:S95P	S	-	1	0	KIAA0319L	35717374	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	2.092000	0.41700	0.896000	0.36366	-0.280000	0.10049	TCC		0.408	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		33	18	0	0	0	1	0	33	18				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	93	0	0	0	1	0	6	93				
ZNF733P	643955	broad.mit.edu	37	7	62752433	62752433	+	RNA	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:62752433C>A	ENST00000331425.6	-	0	1002					NR_003952.1				zinc finger protein 733, pseudogene																		TATGAATTCTCTTATGTCTAG	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752433C>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752433C>A								NR_003952.1						0	1002	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	16	1	0	0.000602214	1	0.000616903	5	16				
DNAH7	56171	broad.mit.edu	37	2	196642630	196642630	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:196642630C>T	ENST00000312428.6	-	59	11058	c.10958G>A	c.(10957-10959)cGc>cAc	p.R3653H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3653					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGCAGCGTGCGCCGGTCCCA	0.473																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(10957-10959)cGc>cAc		dynein, axonemal, heavy chain 7							92.0	95.0	94.0					2																	196642630		2171	4293	6464	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196642630C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10958G>A	2.37:g.196642630C>T	ENSP00000311273:p.Arg3653His					DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	p.R3653H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			59	11058	-			3653					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10958G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244123	0.95272	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.12984	2.63;2.63	4.98	4.98	0.66077	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71401	-0.4604	10	0.87932	D	0	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	3653	Q8WXX0	DYH7_HUMAN	H	3653;136	ENSP00000311273:R3653H;ENSP00000386912:R136H	ENSP00000311273:R3653H	R	-	2	0	DNAH7	196350875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.119000	0.77145	2.583000	0.87209	0.655000	0.94253	CGC		0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		23	31	0	0	0	1	0	23	31				
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	G	A	rs375521090		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGCCTTTCGGTTCCTGACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0					ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(226-228)cGg>cAg		cell division cycle 34		G	GLN/ARG	0,4406		0,0,2203	263.0	260.0	261.0		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:535886G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	19.37:g.535886G>A	ENSP00000215574:p.Arg76Gln						p.R76Q	NM_004359.1	NP_004350.1	P49427	UB2R1_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)	2	445	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	76					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.227G>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		35	324	0	0	0	1	0	35	324				
ADORA2B	136	broad.mit.edu	37	17	15878191	15878191	+	Silent	SNP	C	C	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:15878191C>G	ENST00000304222.2	+	2	866	c.534C>G	c.(532-534)ccC>ccG	p.P178P	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	178	Agonist binding. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	ATGTGGTCCCCATGAGCTACA	0.478																																						ENST00000304222.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9						c.(532-534)ccC>ccG		adenosine A2b receptor	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)						150.0	143.0	145.0					17																	15878191		2203	4300	6503	SO:0001819	synonymous_variant	136				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane		g.chr17:15878191C>G	M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.534C>G	17.37:g.15878191C>G							p.P178P	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	2	866	+			178			Agonist binding (By similarity).			Silent	SNP	ENST00000304222.2	37	c.534C>G	CCDS11173.1																																																																																				0.478	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			21	30	0	0	0	1	0	21	30				
NDRG3	57446	broad.mit.edu	37	20	35293691	35293691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr20:35293691C>A	ENST00000349004.1	-	11	787	c.706G>T	c.(706-708)Gag>Tag	p.E236*	NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*|NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000373803.2_Nonsense_Mutation_p.E236*	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	236					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTTCGATCTCCAGGTCTCTG	0.368																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(706-708)Gag>Tag		NDRG family member 3							193.0	198.0	197.0					20																	35293691		2203	4300	6503	SO:0001587	stop_gained	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35293691C>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.706G>T	20.37:g.35293691C>A	ENSP00000345292:p.Glu236*					NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*|NDRG3_ENST00000349004.1_Nonsense_Mutation_p.E236*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*	p.E236*			Q9UGV2	NDRG3_HUMAN			11	762	-		Myeloproliferative disorder(115;0.00878)	236					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Nonsense_Mutation	SNP	ENST00000349004.1	37	c.706G>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968694	0.92855	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	.	.	.	5.0	5.0	0.66597	.	0.153348	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.1769	0.81857	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;224;141;132	.	ENSP00000345292:E236X	E	-	1	0	NDRG3	34727105	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.856000	0.75450	2.761000	0.94854	0.650000	0.86243	GAG		0.368	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			5	143	1	0	0.000602214	1	0.000616903	5	143				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	66	0	0	0	1	0	4	66				
CBY1	25776	broad.mit.edu	37	22	39064094	39064094	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39064094A>G	ENST00000216029.3	+	2	169	c.35A>G	c.(34-36)aAg>aGg	p.K12R	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	12					cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGTCCGAAGAAGACACCTCCT	0.537																																						ENST00000216029.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(34-36)aAg>aGg		chibby homolog 1 (Drosophila)							109.0	97.0	101.0					22																	39064094		2203	4300	6503	SO:0001583	missense	25776				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding	g.chr22:39064094A>G	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.35A>G	22.37:g.39064094A>G	ENSP00000216029:p.Lys12Arg					RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.1_RNA	p.K12R	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN			2	169	+	Melanoma(58;0.04)		12					B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	ENST00000216029.3	37	c.35A>G	CCDS13974.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331951	0.81801	.	.	ENSG00000100211	ENST00000411557;ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.46157	1.445	0.51012	D	0.999909	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.945	T	0.64892	-0.6300	9	0.25106	T	0.35	-2.8069	14.9809	0.71311	1.0:0.0:0.0:0.0	.	12;12	B0QY53;Q9Y3M2	.;CBY1_HUMAN	R	12	.	ENSP00000216029:K12R	K	+	2	0	CBY1	37394040	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.962000	0.70364	1.932000	0.55993	0.456000	0.33151	AAG		0.537	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		26	38	0	0	0	1	0	26	38				
SYNE1	23345	broad.mit.edu	37	6	152690656	152690656	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:152690656T>C	ENST00000367255.5	-	60	10202	c.9601A>G	c.(9601-9603)Aat>Gat	p.N3201D	SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3201					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGAGGCGATTGCTGCTTTCA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9601-9603)Aat>Gat		spectrin repeat containing, nuclear envelope 1							143.0	124.0	130.0					6																	152690656		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152690656T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9601A>G	6.37:g.152690656T>C	ENSP00000356224:p.Asn3201Asp	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D	p.N3201D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	60	10202	-		Ovarian(120;0.0955)	3201					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9601A>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.256|8.256	0.810021|0.810021	0.16537|0.16537	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000469439	T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58|.	5.52|5.52	1.69|1.69	0.24217|0.24217	.|.	0.449819|.	0.22328|.	N|.	0.061515|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.36183|.	0.121;0.542;0.121;0.163|.	B;B;B;B|.	0.39771|.	0.122;0.309;0.122;0.075|.	T|T	0.04915|0.04915	-1.0918|-1.0918	10|5	0.12766|.	T|.	0.61|.	.|.	6.6638|6.6638	0.23029|0.23029	0.0:0.137:0.1294:0.7336|0.0:0.137:0.1294:0.7336	.|.	3201;318;3201;3208|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	D|R	3201;3208;3201;3208;3240|65	ENSP00000356224:N3201D;ENSP00000396024:N3208D;ENSP00000265368:N3201D;ENSP00000390975:N3208D;ENSP00000341887:N3240D|.	ENSP00000265368:N3201D|.	N|Q	-|-	1|2	0|0	SYNE1|SYNE1	152732349|152732349	0.697000|0.697000	0.27767|0.27767	0.375000|0.375000	0.26029|0.26029	0.472000|0.472000	0.32918|0.32918	0.990000|0.990000	0.29642|0.29642	0.056000|0.056000	0.16144|0.16144	0.450000|0.450000	0.29827|0.29827	AAT|CAA		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	58	0	0	0	1	0	8	58				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	27	0	0	0	1	0	3	27				
EPB41L3	23136	broad.mit.edu	37	18	5410585	5410585	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr18:5410585C>T	ENST00000341928.2	-	14	2441	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	701	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGGTCTCCCCGTCGGCTGCG	0.537																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2101-2103)Ggg>Agg		erythrocyte membrane protein band 4.1-like 3							100.0	66.0	77.0					18																	5410585		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5410585C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2101G>A	18.37:g.5410585C>T	ENSP00000343158:p.Gly701Arg					EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R	p.G701R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			14	2441	-			701			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2101G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751858	0.89753	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.84370	-1.64;-1.84;-1.64;-1.74	5.34	5.34	0.76211	.	0.055885	0.64402	D	0.000001	D	0.87771	0.6261	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.999;1.0;1.0	D	0.89858	0.4014	10	0.87932	D	0	.	19.0337	0.92969	0.0:1.0:0.0:0.0	.	532;93;423;532;701	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	R	701;423;532;423;701;532	ENSP00000343158:G701R;ENSP00000441174:G532R;ENSP00000341138:G701R;ENSP00000382981:G532R	ENSP00000343158:G701R	G	-	1	0	EPB41L3	5400585	1.000000	0.71417	0.918000	0.36340	0.912000	0.54170	7.231000	0.78106	2.500000	0.84329	0.591000	0.81541	GGG		0.537	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		8	26	0	0	0	1	0	8	26				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	58	0	0	0	1	0	4	58				
DNMBP	23268	broad.mit.edu	37	10	101715654	101715654	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:101715654C>A	ENST00000324109.4	-	4	1668	c.1577G>T	c.(1576-1578)gGt>gTt	p.G526V	DNMBP_ENST00000342239.3_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	526					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCTTGCGGACCAGGCTTCAT	0.498																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1576-1578)gGt>gTt		dynamin binding protein							111.0	105.0	107.0					10																	101715654		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715654C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1577G>T	10.37:g.101715654C>A	ENSP00000315659:p.Gly526Val					DNMBP_ENST00000324109.4_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA	p.G526V			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1668	-		Colorectal(252;0.234)	526					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1577G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058199	0.36277	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12147	2.77;2.71	5.92	-1.14	0.09741	.	0.551479	0.16577	N	0.208371	T	0.11495	0.0280	M	0.66939	2.045	0.09310	N	1	P	0.35383	0.498	B	0.30572	0.117	T	0.13602	-1.0503	10	0.44086	T	0.13	-0.6552	5.6347	0.17530	0.1072:0.3518:0.4182:0.1229	.	526	Q6XZF7	DNMBP_HUMAN	V	526	ENSP00000344914:G526V;ENSP00000315659:G526V	ENSP00000315659:G526V	G	-	2	0	DNMBP	101705644	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	0.453000	0.21811	0.070000	0.16634	-0.305000	0.09177	GGT		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		20	104	1	0	1.00905e-13	1	1.21086e-13	20	104				
ENPP1	5167	broad.mit.edu	37	6	132194118	132194118	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:132194118G>A	ENST00000360971.2	+	15	1513	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	498	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTACCTAAGCGTTTGCACTTT	0.408																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1492-1494)cGt>cAt		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						184.0	181.0	182.0					6																	132194118		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132194118G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1493G>A	6.37:g.132194118G>A	ENSP00000354238:p.Arg498His						p.R498H	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	15	1513	+	Breast(56;0.0505)		498			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1493G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493444	0.84962	.	.	ENSG00000197594	ENST00000360971	T	0.78364	-1.17	5.21	4.32	0.51571	Alkaline-phosphatase-like, core domain (1);	0.108634	0.64402	D	0.000008	D	0.86439	0.5933	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89179	0.3542	10	0.72032	D	0.01	-17.0976	15.1846	0.72989	0.0:0.0:0.8577:0.1423	.	498;128	P22413;Q7Z3P5	ENPP1_HUMAN;.	H	498	ENSP00000354238:R498H	ENSP00000354238:R498H	R	+	2	0	ENPP1	132235811	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.717000	0.91425	1.281000	0.44480	0.591000	0.81541	CGT		0.408	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			71	101	0	0	0	1	0	71	101				
FUBP1	8880	broad.mit.edu	37	1	78430035	78430036	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:78430035_78430036insG	ENST00000370768.2	-	11	924_925	c.843_844insC	c.(841-846)cccattfs	p.I282fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.I282fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I303fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	282	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATCTTGGAATGGGGACCTTAT	0.342			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(841-846)ccttccfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430035_78430036insG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.844dupC	1.37:g.78430039_78430039dupG	ENSP00000359804:p.Ile282fs					FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.S303fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.S282fs	p.S282fs			Q96AE4	FUBP1_HUMAN			11	930_931	-			282			KH 3.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.843_844insC	CCDS683.1																																																																																				0.342	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		12	23						12	23	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801975	248801976	+	Frame_Shift_Del	DEL	AT	AT	-	rs537904025	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:248801975_248801976delAT	ENST00000317450.3	-	1	583_584	c.584_585delAT	c.(583-585)tatfs	p.Y195fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGGTCTCATAGAGTGACGT	0.5														3	0.000599042	0.0015	0.0	5008	,	,		13576	0.0		0.001	False		,,,				2504	0.0					ENST00000317450.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(583-585)tfs		olfactory receptor, family 2, subfamily T, member 35				2,3530		1,0,1765						2.9	0.9			31	26,7700		8,10,3845	no	frameshift	OR2T35	NM_001001827.1		9,10,5610	A1A1,A1R,RR		0.3365,0.0566,0.2487				28,11230				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801975_248801976delAT	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.584_585delAT	1.37:g.248801975_248801976delAT	ENSP00000324369:p.Tyr195fs						p.Y195fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	583_584	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	195					Q6IEY7	Frame_Shift_Del	DEL	ENST00000317450.3	37	c.584_585delAT	CCDS31123.1																																																																																				0.500	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	6						3	6	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67591129	67591130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:67591129_67591130delAA	ENST00000521381.1	+	13	2338_2339	c.1722_1723delAA	c.(1720-1725)agaaagfs	p.K575fs	PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.K212fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.K275fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.K305fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.K575fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCCAGCTGAGAAAGACGAGAGA	0.376			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		6	Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)	endometrium(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1720-1725)agagfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591129_67591130delAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1722_1723delAA	5.37:g.67591129_67591130delAA	ENSP00000428056:p.Lys575fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.RK304fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.RK211fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.RK274fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.RK574fs	p.RK574fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2338_2339	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	574					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1722_1723delAA	CCDS3993.1																																																																																				0.376	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		10	81						10	81	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		5	4						5	4	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		5	8						5	8	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58589321	58589322	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr16:58589321_58589322insT	ENST00000317147.5	-	21	3056_3057	c.2724_2725insA	c.(2722-2727)aaagagfs	p.E909fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.E904fs|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.E909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	909	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATATGTAACTCTTTATCAGGAT	0.376																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2722-2727)aaagttfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589321_58589322insT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2725dupA	16.37:g.58589324_58589324dupT	ENSP00000320949:p.Glu909fs					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.V904fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.V909fs	p.V909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3056_3057	-			909					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.2724_2725insA	CCDS10799.1																																																																																				0.376	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		36	130						36	130	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793116	42793116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42793116delT	ENST00000575354.2	+	7	1048	c.1008delT	c.(1006-1008)tgtfs	p.C336fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.C1245fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCAGCTCCTGTGGGGCAGAAC	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3733-3735)tgfs		capicua transcriptional repressor							54.0	58.0	57.0					19																	42793116		2203	4300	6503	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793116delT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1008delT	19.37:g.42793116delT	ENSP00000458663:p.Cys336fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.C336fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs	p.C1245fs			Q96RK0	CIC_HUMAN			8	3803	+		Prostate(69;0.00682)	336			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3735delT	CCDS12601.1																																																																																				0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	58						9	58	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	1						5	1	---	---	---	---
