#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
NTF3	4908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	5603797	5603797	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	ENST00000331010.6	+	1	500	c.417C>T	c.(415-417)taC>taT	p.Y139Y	NTF3_ENST00000423158.3_Silent_p.Y152Y|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	139					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602																																					GBM(194;1104 2182 8339 9578 18493)											0													90.0	85.0	87.0					12																	5603797		2203	4300	6503	SO:0001819	synonymous_variant	4908				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.417C>T	12.37:g.5603797C>T			B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	CCDS8538.1																																																																																				0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			40	133	40	133
ATN1	1822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7050146	7050146	+	Silent	SNP	C	C	T	rs370442635		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	ENST00000356654.4	+	8	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	U47924.31_ENST00000607421.1_RNA|ATN1_ENST00000396684.2_Silent_p.H1106H|C12orf57_ENST00000544681.1_5'Flank|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000537087.1_5'Flank	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1106					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTTCCTCACCCTCTGCACG	0.567																																																0													118.0	97.0	104.0					12																	7050146		2203	4300	6503	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3318C>T	12.37:g.7050146C>T			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.567	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		16	59	16	59
TMTC2	160335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	83379779	83379779	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	ENST00000321196.3	+	8	2731	c.2024A>G	c.(2023-2025)gAc>gGc	p.D675G	TMTC2_ENST00000549919.1_Missense_Mutation_p.D669G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	675					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458																																																0													199.0	162.0	175.0					12																	83379779		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2024A>G	12.37:g.83379779A>G	ENSP00000322300:p.Asp675Gly		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694610	0.88830	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.64991	-0.13;-0.13	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.996;0.968	D;P	0.65573	0.936;0.79	T	0.82099	-0.0625	10	0.59425	D	0.04	-24.25	14.5446	0.68020	1.0:0.0:0.0:0.0	.	675;430	Q8N394;F8VRQ2	TMTC2_HUMAN;.	G	675;669;430	ENSP00000322300:D675G;ENSP00000447609:D669G	ENSP00000322300:D675G	D	+	2	0	TMTC2	81903910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.460000	0.90369	2.181000	0.69327	0.533000	0.62120	GAC		0.458	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		43	83	43	83
PTPN11	5781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	ENST00000351677.2	+	8	1120	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	308	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> D (in NS1; common mutation). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12960218}.|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue). {ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.N308D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																														Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM013422	PTPN11	M	rs28933386	A	ASP/ASN	0,4406		0,0,2203	206.0	178.0	188.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	922	4.5	1.0	12	dbSNP_125	188	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN11	NM_002834.3	23	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	308/594	112915523	1,13005	2203	4300	6503	SO:0001583	missense	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.922A>G	12.37:g.112915523A>G	ENSP00000340944:p.Asn308Asp		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834908	0.71373	0.0	1.16E-4	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99479	-5.98;-5.98	5.64	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.96430	3.82	0.80722	A	1	B;B	0.31910	0.229;0.346	B;B	0.39840	0.167;0.311	D	0.99958	1.1671	9	0.72032	D	0.01	.	11.3384	0.49518	0.9292:0.0:0.0708:0.0	rs28933386	308;308	Q06124-2;Q06124-3	.;.	D	308	ENSP00000376376:N308D;ENSP00000340944:N308D	ENSP00000340944:N308D	N	+	1	0	PTPN11	111399906	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	8.869000	0.92326	0.998000	0.38996	0.524000	0.50904	AAT		0.378	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			15	56	15	56
IL16	3603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	81571959	81571959	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	ENST00000302987.4	+	7	925	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_ENST00000394660.2_Silent_p.L309L			Q14005	IL16_HUMAN	interleukin 16	309	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612																																																0													34.0	37.0	36.0					15																	81571959		1949	4142	6091	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.925C>T	15.37:g.81571959C>T			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.612	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		19	29	19	29
KCNH6	81033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	61621618	61621618	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	ENST00000583023.1	+	12	2361	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S|KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	784					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGATGCAGCCCCTCCCCTGAG	0.612																																																0																																										SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2350C>T	17.37:g.61621618C>T	ENSP00000463533:p.Pro784Ser		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	8.765	0.924638	0.18056	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99232	-5.6	5.63	2.32	0.28847	.	0.212616	0.28809	U	0.014076	D	0.95762	0.8621	L	0.47716	1.5	0.09310	N	0.999999	B;P;B;B	0.38922	0.146;0.651;0.066;0.048	B;B;B;B	0.30401	0.057;0.115;0.019;0.012	D	0.91635	0.5322	10	0.05436	T	0.98	.	4.5804	0.12255	0.318:0.4879:0.1166:0.0776	.	625;748;695;784	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	S	784;695	ENSP00000396900:P695S	ENSP00000318212:P784S	P	+	1	0	KCNH6	58975350	0.000000	0.05858	0.921000	0.36526	0.466000	0.32739	-0.396000	0.07278	0.821000	0.34540	0.655000	0.94253	CCT		0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		22	37	22	37
CD300A	11314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	72473594	72473594	+	Silent	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	ENST00000360141.3	+	4	841	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_ENST00000392625.3_Silent_p.L72L|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000577511.1_Silent_p.L55L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	185					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTCCTCTCCCTGCTGGCATT	0.512																																																0													74.0	63.0	67.0					17																	72473594		2203	4300	6503	SO:0001819	synonymous_variant	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.553C>T	17.37:g.72473594C>T			A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	CCDS32720.1																																																																																				0.512	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		22	100	22	100
MAPK4	5596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	rs186595195		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	skin(1)											68.0	70.0	69.0					18																	48190668		2198	4296	6494	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.340C>T	18.37:g.48190668C>T	ENSP00000383234:p.Arg114Cys		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	CCDS42437.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.13	2.443101	0.43326	.	.	ENSG00000141639	ENST00000400384	T	0.45276	0.9	5.87	3.1	0.35709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.374522	0.26522	N	0.023911	T	0.41026	0.1141	M	0.73430	2.235	0.41683	D	0.989308	B;B	0.18863	0.031;0.031	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.51188	T	0.08	-13.1557	7.513	0.27585	0.1353:0.7181:0.0:0.1466	.	114;114	Q0VG04;P31152	.;MK04_HUMAN	C	114	ENSP00000383234:R114C	ENSP00000383234:R114C	R	+	1	0	MAPK4	46444666	0.980000	0.34600	0.006000	0.13384	0.992000	0.81027	2.624000	0.46444	0.381000	0.24851	-0.215000	0.12644	CGC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		12	90	12	90
ABCA7	10347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	1056395	1056395	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	ENST00000263094.6	+	33	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1495					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGCAATCCTCCGTGCTCA	0.612																																																0													120.0	106.0	111.0					19																	1056395		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4483C>T	19.37:g.1056395C>T	ENSP00000263094:p.Leu1495Phe		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949240	0.53186	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88741	-2.42;-2.42	3.59	3.59	0.41128	.	.	.	.	.	D	0.92466	0.7608	M	0.72353	2.195	0.42349	D	0.99236	D	0.89917	1.0	D	0.97110	1.0	D	0.92276	0.5829	9	0.87932	D	0	.	8.0496	0.30570	0.0:0.8835:0.0:0.1165	.	1495	Q8IZY2	ABCA7_HUMAN	F	1495	ENSP00000263094:L1495F;ENSP00000414062:L1495F	ENSP00000263094:L1495F	L	+	1	0	ABCA7	1007395	1.000000	0.71417	0.761000	0.31378	0.348000	0.29142	4.656000	0.61483	1.856000	0.53863	0.555000	0.69702	CTC		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		28	81	28	81
AMPD2	271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	110168798	110168798	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	ENST00000256578.3	+	4	892	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V|AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V|AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	178					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632																																																0													71.0	56.0	61.0					1																	110168798		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.532C>G	1.37:g.110168798C>G	ENSP00000256578:p.Leu178Val		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.340455|3.340455	0.60963|0.60963	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;T;T;D|.	0.85955|.	-2.0;-2.05;-2.05;1.22;1.22;-1.99|.	5.21|5.21	4.3|4.3	0.51218|0.51218	.|.	0.081143|.	0.46758|.	D|.	0.000267|.	T|T	0.31796|0.31796	0.0808|0.0808	L|L	0.36672|0.36672	1.1|1.1	0.38968|0.38968	D|D	0.958687|0.958687	D;B;B;B|.	0.67145|.	0.996;0.319;0.236;0.208|.	D;B;B;B|.	0.72625|.	0.978;0.069;0.069;0.047|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.30078|.	T|.	0.28|.	-19.3336|-19.3336	6.0092|6.0092	0.19565|0.19565	0.0:0.7454:0.0:0.2546|0.0:0.7454:0.0:0.2546	.|.	103;59;178;97|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	V|R	97;97;178;60;178;103;145;60;59|148	ENSP00000345498:L97V;ENSP00000436541:L178V;ENSP00000256578:L178V;ENSP00000351573:L103V;ENSP00000437164:L60V;ENSP00000377292:L59V|.	ENSP00000256578:L178V|.	L|P	+|+	1|2	2|0	AMPD2|AMPD2	109970321|109970321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.777000|1.777000	0.38604|0.38604	2.425000|2.425000	0.82216|0.82216	0.462000|0.462000	0.41574|0.41574	CTG|CCT		0.632	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			12	52	12	52
FCRL3	115352	hgsc.bcm.edu;broad.mit.edu	37	1	157665876	157665876	+	Silent	SNP	G	G	A	rs368325573		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	ENST00000368184.3	-	7	1377	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.N362N|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	362	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532																																																0													131.0	114.0	119.0					1																	157665876		2203	4300	6503	SO:0001819	synonymous_variant	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1086C>T	1.37:g.157665876G>A			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																				0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		9	91	9	91
CFAP61	26074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	20271009	20271009	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	ENST00000245957.5	+	24	3266	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	C20orf26_ENST00000377309.2_Nonsense_Mutation_p.W310*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1064										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACTCCCTTGGAGGTACAAAT	0.348																																																0													71.0	78.0	75.0					20																	20271009		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.3190G>A	20.37:g.20271009G>A	ENSP00000245957:p.Glu1064Lys		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.191983|18.191983	0.99901|0.99901	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957|ENST00000377309	T|.	0.09073|.	3.02|.	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	0.815237|.	0.11693|.	N|.	0.538638|.	T|.	0.39279|.	0.1072|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.24823|.	0.112|.	B|.	0.20955|.	0.032|.	T|.	0.19811|.	-1.0294|.	10|.	0.33940|.	T|.	0.23|.	.|.	10.9075|10.9075	0.47088|0.47088	0.1458:0.0:0.8542:0.0|0.1458:0.0:0.8542:0.0	.|.	1064|.	Q8NHU2|.	CT026_HUMAN|.	K|X	1004;1030;1064|310	ENSP00000245957:E1064K|.	ENSP00000245957:E1064K|.	E|W	+|+	1|3	0|0	C20orf26|C20orf26	20219009|20219009	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.379000|0.379000	0.30106|0.30106	4.197000|4.197000	0.58413|0.58413	1.297000|1.297000	0.44761|0.44761	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.348	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			19	54	19	54
ACOT8	10005	hgsc.bcm.edu;broad.mit.edu	37	20	44472287	44472287	+	Silent	SNP	C	C	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	ENST00000217455.4	-	5	810	c.720G>C	c.(718-720)ctG>ctC	p.L240L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	240					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597																																																0													69.0	59.0	63.0					20																	44472287		2203	4300	6503	SO:0001819	synonymous_variant	10005			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.720G>C	20.37:g.44472287C>G			O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	CCDS13378.1																																																																																				0.597	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		18	58	18	58
ACVR2B	93	hgsc.bcm.edu;ucsc.edu	37	3	38518942	38518942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:38518942G>A	ENST00000352511.4	+	2	689	c.217G>A	c.(217-219)Gtg>Atg	p.V73M		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	73					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CATCGAGCTCGTGAAGAAGGG	0.612																																																0													75.0	53.0	60.0					3																	38518942		2203	4300	6503	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.217G>A	3.37:g.38518942G>A	ENSP00000340361:p.Val73Met		Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427623	0.83667	.	.	ENSG00000114739	ENST00000352511	D	0.98135	-4.74	4.17	4.17	0.49024	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.74389	2.26	0.80722	D	1	P	0.52170	0.951	P	0.52514	0.701	D	0.97774	1.0228	10	0.44086	T	0.13	.	17.0368	0.86478	0.0:0.0:1.0:0.0	.	73	Q13705	AVR2B_HUMAN	M	73	ENSP00000340361:V73M	ENSP00000340361:V73M	V	+	1	0	ACVR2B	38493946	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.457000	0.97630	2.318000	0.78349	0.655000	0.94253	GTG		0.612	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		4	34	4	34
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	94436513	94436513	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	ENST00000282020.4	+	13	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_ENST00000510992.1_Missense_Mutation_p.S620N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCAACCGAAGCAATGGATCG	0.473																																																0													136.0	116.0	123.0					4																	94436513		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2144G>A	4.37:g.94436513G>A	ENSP00000282020:p.Ser715Asn		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441703	0.25900	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11930	2.73;2.73	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.040787	0.85682	D	0.000000	T	0.07098	0.0180	N	0.02751	-0.505	0.51012	D	0.999907	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.38112	-0.9676	10	0.13470	T	0.59	.	19.33	0.94281	0.0:0.0:1.0:0.0	.	620;715	E9PH24;O43424	.;GRID2_HUMAN	N	715;620	ENSP00000282020:S715N;ENSP00000421257:S620N	ENSP00000282020:S715N	S	+	2	0	GRID2	94655536	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.995000	0.63908	2.639000	0.89480	0.585000	0.79938	AGC		0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			21	100	21	100
PDE4D	5144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	ENST00000340635.6	-	3	827	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGTCATCTCCGTGTCTGAAA	0.398																																																0													75.0	71.0	72.0					5																	58489358		1880	4130	6010	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.652G>A	5.37:g.58489358C>T	ENSP00000345502:p.Gly218Arg		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826670	0.71143	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;D	0.82344	-0.32;-0.33;-0.34;-0.32;-0.34;-0.34;-0.34;-1.6	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.87578	0.977;0.996;0.998;0.997;0.998;0.98;0.98;0.998	D	0.89095	0.3485	10	0.72032	D	0.01	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	98;154;157;218;154;81;96;88	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	R	218;87;82;154;88;96;157;157;154	ENSP00000345502:G218R;ENSP00000353152:G82R;ENSP00000424852:G154R;ENSP00000425605:G88R;ENSP00000384806:G96R;ENSP00000423094:G157R;ENSP00000442734:G157R;ENSP00000425917:G154R	ENSP00000308485:G154R	G	-	1	0	PDE4D	58525115	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.622000	0.67750	2.885000	0.99019	0.655000	0.94253	GGA		0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			8	31	8	31
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	90119413	90119413	+	Splice_Site	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	ENST00000405460.2	+	76	16464	c.16368G>A	c.(16366-16368)aaG>aaA	p.K5456K	GPR98_ENST00000425867.2_Splice_Site_p.K1117K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5456	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACCAGAAAAGGTAAGAAATG	0.363																																																0													81.0	77.0	79.0					5																	90119413		1844	4092	5936	SO:0001630	splice_region_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16368+1G>A	5.37:g.90119413G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Silent	10	13	10	13
ATP10B	23120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	rs376023056		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507																																																0								C	HIS/ARG	1,3919		0,1,1959	129.0	130.0	130.0		1340	5.5	0.1	5		130	0,8290		0,0,4145	no	missense	ATP10B	NM_025153.2	29	0,1,6104	TT,TC,CC		0.0,0.0255,0.0082	probably-damaging	447/1462	160061402	1,12209	1960	4145	6105	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1340G>A	5.37:g.160061402C>T	ENSP00000313600:p.Arg447His		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182278	0.94885	2.55E-4	0.0	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.64803	-0.12;-0.12	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.81682	2.555	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	0.91635	0.998;0.983;0.998;0.978;0.999	T	0.81400	-0.0950	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	491;447;419;55;447	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	H	447;55	ENSP00000313600:R447H;ENSP00000431081:R55H	.	R	-	2	0	ATP10B	159993980	1.000000	0.71417	0.087000	0.20705	0.910000	0.53928	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	CGT		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		28	51	28	51
TRIM15	89870	hgsc.bcm.edu;broad.mit.edu	37	6	30131720	30131720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	ENST00000376694.4	+	1	728	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	87					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632																																																0													96.0	60.0	73.0					6																	30131720		1511	2709	4220	SO:0001583	missense	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.259G>A	6.37:g.30131720G>A	ENSP00000365884:p.Gly87Ser		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521272	0.64747	.	.	ENSG00000204610	ENST00000376695;ENST00000376694;ENST00000376688	T;T	0.57752	0.38;1.02	5.68	3.81	0.43845	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.127121	0.35677	N	0.003055	T	0.57080	0.2029	M	0.72118	2.19	0.30414	N	0.778806	D	0.89917	1.0	D	0.78314	0.991	T	0.56751	-0.7927	10	0.72032	D	0.01	.	9.0465	0.36349	0.082:0.1491:0.7688:0.0	.	87	Q9C019	TRI15_HUMAN	S	18;87;87	ENSP00000365884:G87S;ENSP00000365878:G87S	ENSP00000365878:G87S	G	+	1	0	TRIM15	30239699	0.000000	0.05858	0.818000	0.32626	0.575000	0.36095	-0.283000	0.08433	1.406000	0.46857	-0.271000	0.10264	GGC		0.632	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		3	53	3	53
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	48506641	48506641	+	Splice_Site	SNP	C	C	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	ENST00000435803.1	+	44	12928	c.12904C>T	c.(12904-12906)Cag>Tag	p.Q4302*	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4302			Q -> R (in dbSNP:rs4917153).		transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACCCACGCCAGTAAGTGTC	0.473																																																0													108.0	111.0	110.0					7																	48506641		1957	4167	6124	SO:0001630	splice_region_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12905+1C>T	7.37:g.48506641C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	53	21.098307	0.99937	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.29	-0.295	0.12828	.	2.536950	0.02036	N	0.048937	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	3.3893	0.07283	0.3024:0.4368:0.0:0.2608	.	.	.	.	X	4302	.	ENSP00000411096:Q4302X	Q	+	1	0	ABCA13	48477187	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.309000	0.08145	0.018000	0.15052	-0.140000	0.14226	CAG		0.473	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Nonsense_Mutation	30	133	30	133
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87183111	87183111	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	ENST00000265724.3	-	10	1382	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	322	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCCCCTGAGAGGACCAAGGT	0.393																																																0													132.0	123.0	126.0					7																	87183111		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.965T>C	7.37:g.87183111A>G	ENSP00000265724:p.Leu322Pro		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.439109	0.43326	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.83075	-1.68;-1.68	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.267525	0.37437	N	0.002099	D	0.90813	0.7115	M	0.79805	2.47	0.80722	D	1	D;D	0.64830	0.971;0.994	P;D	0.67900	0.838;0.954	D	0.92043	0.5642	10	0.72032	D	0.01	-0.303	15.716	0.77670	1.0:0.0:0.0:0.0	.	258;322	B5AK60;P08183	.;MDR1_HUMAN	P	103;322;258	ENSP00000265724:L322P;ENSP00000444095:L258P	ENSP00000265724:L322P	L	-	2	0	ABCB1	87021047	0.993000	0.37304	0.683000	0.30040	0.377000	0.30045	7.274000	0.78538	2.167000	0.68274	0.528000	0.53228	CTC		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		25	56	25	56
RNF208	727800	broad.mit.edu;ucsc.edu	37	9	140114928	140114928	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	ENST00000392827.1	-	2	905	c.737C>T	c.(736-738)gCg>gTg	p.A246V	RNF208_ENST00000391553.1_Missense_Mutation_p.A246V			Q9H0X6	RN208_HUMAN	ring finger protein 208	246					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706																																																0													18.0	23.0	21.0					9																	140114928		2171	4285	6456	SO:0001583	missense	727800			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.737C>T	9.37:g.140114928G>A	ENSP00000376572:p.Ala246Val		A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087253	0.76642	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.32753	1.44;1.44	4.22	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.36672	1.1	0.58432	D	0.999994	B	0.22983	0.078	B	0.15052	0.012	T	0.05750	-1.0866	10	0.56958	D	0.05	-2.1412	9.0562	0.36408	0.1052:0.0:0.8948:0.0	.	246	Q9H0X6	RN208_HUMAN	V	246	ENSP00000376572:A246V;ENSP00000375397:A246V	ENSP00000375397:A246V	A	-	2	0	RNF208	139234749	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	5.322000	0.65852	0.983000	0.38602	0.491000	0.48974	GCG		0.706	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		3	15	3	15
PCDHB1	29930	broad.mit.edu;ucsc.edu	37	5	140432731	140432731	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	ENST00000306549.3	+	1	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R559H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502																																																1	Substitution - Missense(1)	large_intestine(1)											108.0	101.0	103.0					5																	140432731		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1676G>A	5.37:g.140432731G>A	ENSP00000307234:p.Arg559His		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851559	0.32699	.	.	ENSG00000171815	ENST00000306549	T	0.59502	0.26	6.08	4.22	0.49857	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.457422	0.18413	N	0.141992	T	0.40694	0.1127	N	0.26092	0.79	0.09310	N	1	P	0.49358	0.923	B	0.38156	0.266	T	0.44817	-0.9303	10	0.87932	D	0	.	9.9289	0.41510	0.0:0.2071:0.5853:0.2075	.	559	Q9Y5F3	PCDB1_HUMAN	H	559	ENSP00000307234:R559H	ENSP00000307234:R559H	R	+	2	0	PCDHB1	140412915	0.002000	0.14202	0.994000	0.49952	0.993000	0.82548	1.132000	0.31418	2.894000	0.99253	0.655000	0.94253	CGT		0.502	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		25	48	25	48
FCHO1	23149	broad.mit.edu;ucsc.edu	37	19	17895689	17895689	+	Silent	SNP	G	G	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	ENST00000596536.1	+	26	2665	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000596951.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000594202.1_Silent_p.V794V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000597512.1_Silent_p.V801V	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	794	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													59.0	57.0	58.0					19																	17895689		2203	4300	6503	SO:0001819	synonymous_variant	23149			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2382G>A	19.37:g.17895689G>A		721	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	CCDS32955.1																																																																																				0.652	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		20	138	20	138
TAF1	6872	broad.mit.edu;ucsc.edu	37	X	70621406	70621406	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	ENST00000373790.4	+	25	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V|TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V|TAF1_ENST00000449580.1_Missense_Mutation_p.G1271V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1271					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGTGCCATTGGACACATGAGG	0.458																																																0													89.0	75.0	79.0					X																	70621406		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3812G>T	X.37:g.70621406G>T	ENSP00000362895:p.Gly1271Val		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.586111|4.586111	0.86851|0.86851	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|D;D;D;D	.|0.91295	.|-2.82;-2.82;-2.82;-2.82	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95617|0.95617	0.8575|0.8575	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96029|0.96029	0.9015|0.9015	5|10	.|0.87932	.|D	.|0	.|.	18.6033|18.6033	0.91257|0.91257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1271;1271;1292	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	Y|V	182|1271;1271;1292;1292	.|ENSP00000362895:G1271V;ENSP00000389000:G1271V;ENSP00000406549:G1292V;ENSP00000276072:G1292V	.|ENSP00000276072:G1292V	D|G	+|+	1|2	0|0	TAF1|TAF1	70538131|70538131	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.975000|0.975000	0.68041|0.68041	9.472000|9.472000	0.97709|0.97709	2.337000|2.337000	0.79520|0.79520	0.418000|0.418000	0.28097|0.28097	GAC|GGA		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		13	15	13	15
KRT20	54474	broad.mit.edu;ucsc.edu	37	17	39041184	39041184	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	ENST00000167588.3	-	1	295	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	85	Coil 1A.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTTTTCTAGGTAGCTCGC	0.542																																																0													93.0	82.0	86.0					17																	39041184		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.254T>A	17.37:g.39041184A>T	ENSP00000167588:p.Leu85Gln		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985957	0.74589	.	.	ENSG00000171431	ENST00000167588	D	0.91521	-2.86	5.79	5.79	0.91817	Filament (1);	0.000000	0.46758	D	0.000272	D	0.96716	0.8928	H	0.94886	3.595	0.50632	D	0.999882	D	0.89917	1.0	D	0.91635	0.999	D	0.97781	1.0232	10	0.87932	D	0	.	16.1272	0.81404	1.0:0.0:0.0:0.0	.	85	P35900	K1C20_HUMAN	Q	85	ENSP00000167588:L85Q	ENSP00000167588:L85Q	L	-	2	0	KRT20	36294710	1.000000	0.71417	0.917000	0.36280	0.300000	0.27592	9.006000	0.93592	2.210000	0.71456	0.533000	0.62120	CTA		0.542	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			6	57	6	57
WDR78	79819	broad.mit.edu;hgsc.bcm.edu	37	1	67371036	67371037	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	ENST00000371026.3	-	2	247_248	c.192_193insT	c.(190-195)aagaagfs	p.K65fs	WDR78_ENST00000371023.3_Frame_Shift_Ins_p.K65fs|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.K65fs|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000488333.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	65					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322																																																0																																										SO:0001589	frameshift_variant	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.192_193insT	1.37:g.67371036_67371037insA	ENSP00000360065:p.Lys65fs		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Ins	INS	ENST00000371026.3	37	CCDS635.1																																																																																				0.322	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		16	16	16	16
PHLDB2	90102	broad.mit.edu;hgsc.bcm.edu	37	3	111604041	111604042	+	Frame_Shift_Ins	INS	-	-	CAGA			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	ENST00000431670.2	+	2	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.-374fs	PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.-401fs|PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.-374fs	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGGAGAGTCAGACAGAGTT	0.515																																																0																																										SO:0001589	frameshift_variant	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1122_1125dupCAGA	3.37:g.111604046_111604049dupCAGA	ENSP00000405405:p.Asp374fs		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Frame_Shift_Ins	INS	ENST00000431670.2	37	CCDS46886.1																																																																																				0.515	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		23	81	23	81
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu	37	12	124817682	124817683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	ENST00000405201.1	-	42	6748_6749	c.6748_6749insG	c.(6748-6750)gagfs	p.E2250fs	NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.E1811fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.E2241fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.E2257fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTCC	0.644																																																0																																										SO:0001589	frameshift_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6749dupG	12.37:g.124817684_124817684dupC	ENSP00000384018:p.Glu2250fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				0.644	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		32	86	32	86
