#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DLGAP2	9228	broad.mit.edu	37	8	1497493	1497493	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr8:1497493G>A	ENST00000421627.2	+	2	768	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	291					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCCGGCCCGGCATGAGCAG	0.706																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(634-636)Ggc>Agc		discs, large (Drosophila) homolog-associated protein 2							28.0	39.0	35.0					8																	1497493		2193	4294	6487	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497493G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.634G>A	8.37:g.1497493G>A	ENSP00000400258:p.Gly212Ser						p.G212S	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	768	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	291					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.634G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822325	0.32237	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.40756	1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.65320	2	0.50039	D	0.99984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56038	-0.8045	10	0.25106	T	0.35	-20.8504	19.1994	0.93704	0.0:0.0:1.0:0.0	.	291;291	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	S	257;212	ENSP00000400258:G212S	ENSP00000348366:G257S	G	+	1	0	DLGAP2	1484900	1.000000	0.71417	0.103000	0.21229	0.015000	0.08874	3.889000	0.56212	2.534000	0.85438	0.655000	0.94253	GGC		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	36	0	0	0	1	0	17	36				
HCN1	348980	broad.mit.edu	37	5	45262298	45262298	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:45262298G>C	ENST00000303230.4	-	8	2455	c.2398C>G	c.(2398-2400)Ctg>Gtg	p.L800V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	800					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGAAATCAGAGTGGACACC	0.657																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2398-2400)Ctg>Gtg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							51.0	50.0	50.0					5																	45262298		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262298G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2398C>G	5.37:g.45262298G>C	ENSP00000307342:p.Leu800Val						p.L800V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2455	-			800						Missense_Mutation	SNP	ENST00000303230.4	37	c.2398C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653578	0.14580	.	.	ENSG00000164588	ENST00000303230	T	0.78003	-1.14	5.02	1.15	0.20763	.	0.433156	0.18839	N	0.129723	T	0.51381	0.1671	N	0.11560	0.145	0.31486	N	0.666567	B	0.24483	0.104	B	0.25140	0.058	T	0.42464	-0.9450	10	0.12103	T	0.63	.	4.3406	0.11108	0.2113:0.0:0.3986:0.3901	.	800	O60741	HCN1_HUMAN	V	800	ENSP00000307342:L800V	ENSP00000307342:L800V	L	-	1	2	HCN1	45298055	0.506000	0.26139	0.943000	0.38184	0.992000	0.81027	1.085000	0.30840	-0.012000	0.14223	0.655000	0.94253	CTG		0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		14	50	0	0	0	1	0	14	50				
UTP20	27340	broad.mit.edu	37	12	101764298	101764298	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:101764298T>G	ENST00000261637.4	+	50	6818	c.6644T>G	c.(6643-6645)aTt>aGt	p.I2215S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2215					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGGAGGACATTTATGATACT	0.418																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6643-6645)aTt>aGt		UTP20, small subunit (SSU) processome component, homolog (yeast)							173.0	161.0	165.0					12																	101764298		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764298T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6644T>G	12.37:g.101764298T>G	ENSP00000261637:p.Ile2215Ser						p.I2215S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			50	6818	+			2215					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6644T>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951584	0.92660	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	M	0.77103	2.36	0.80722	D	1	P	0.40578	0.722	B	0.43809	0.432	T	0.74604	-0.3610	10	0.87932	D	0	-13.8368	16.0522	0.80772	0.0:0.0:0.0:1.0	.	2215	O75691	UTP20_HUMAN	S	2215	ENSP00000261637:I2215S	ENSP00000261637:I2215S	I	+	2	0	UTP20	100288429	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.988000	0.88194	2.269000	0.75478	0.455000	0.32223	ATT		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	88	0	0	0	1	0	28	88				
WDR66	144406	broad.mit.edu	37	12	122359475	122359475	+	Silent	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:122359475G>A	ENST00000288912.4	+	2	1118	c.264G>A	c.(262-264)gaG>gaA	p.E88E	WDR66_ENST00000397454.2_Silent_p.E88E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	88	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAGAGAAGGAGGCTTCAGGAA	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(262-264)gaG>gaA		WD repeat domain 66							83.0	90.0	88.0					12																	122359475		1989	4167	6156	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122359475G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.264G>A	12.37:g.122359475G>A						WDR66_ENST00000397454.2_Silent_p.E88E	p.E88E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	1118	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		88			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.264G>A	CCDS41853.1																																																																																				0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		15	59	0	0	0	1	0	15	59				
TMEM104	54868	broad.mit.edu	37	17	72832366	72832366	+	Missense_Mutation	SNP	G	G	A	rs146892063		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr17:72832366G>A	ENST00000335464.5	+	10	1193	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344H	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	344						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					AACTTCGCGCGCTGTGACGTC	0.617													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18197	0.0		0.0	False		,,,				2504	0.0					ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1030-1032)cGc>cAc		transmembrane protein 104			HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	294.0	229.0	251.0		1031	5.3	0.9	17	dbSNP_134	251	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TMEM104	NM_017728.3	29	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	possibly-damaging	344/497	72832366	11,12995	2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832366G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1031G>A	17.37:g.72832366G>A	ENSP00000334849:p.Arg344His					TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R344H|TMEM104_ENST00000582773.1_Intron	p.R344H	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1193	+	all_lung(278;0.23)		344					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1031G>A	CCDS32723.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	12.22	1.874032	0.33069	6.81E-4	9.3E-4	ENSG00000109066	ENST00000335464	T	0.02280	4.36	5.26	5.26	0.73747	.	0.297958	0.41396	D	0.000882	T	0.02304	0.0071	L	0.34521	1.04	0.26058	N	0.981385	P	0.45672	0.864	B	0.38985	0.287	T	0.50906	-0.8772	10	0.41790	T	0.15	-21.3061	10.4811	0.44693	0.1207:0.0:0.8793:0.0	.	344	Q8NE00	TM104_HUMAN	H	344	ENSP00000334849:R344H	ENSP00000334849:R344H	R	+	2	0	TMEM104	70343961	1.000000	0.71417	0.938000	0.37757	0.209000	0.24338	4.296000	0.59055	2.626000	0.88956	0.556000	0.70494	CGC		0.617	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		8	210	0	0	0	1	0	8	210				
PTCHD2	57540	broad.mit.edu	37	1	11561768	11561768	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr1:11561768C>T	ENST00000294484.6	+	2	857	c.719C>T	c.(718-720)gCg>gTg	p.A240V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A240V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	240					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGCCCCACGCGGCAGTCGCG	0.687																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(718-720)gCg>gTg		patched domain containing 2							6.0	8.0	7.0					1																	11561768		1935	4075	6010	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561768C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.719C>T	1.37:g.11561768C>T	ENSP00000294484:p.Ala240Val					PTCHD2_ENST00000389575.3_Missense_Mutation_p.A240V	p.A240V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	857	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	240					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.719C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	1.610	-0.524322	0.04141	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26373	1.74;1.74	4.85	-6.53	0.01866	.	2.661690	0.01024	N	0.004020	T	0.08846	0.0219	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13710	-1.0499	10	0.30078	T	0.28	2.8723	1.1168	0.01716	0.1472:0.3405:0.2237:0.2887	.	240	Q9P2K9	PTHD2_HUMAN	V	240	ENSP00000294484:A240V;ENSP00000374226:A240V	ENSP00000294484:A240V	A	+	2	0	PTCHD2	11484355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.880000	0.04183	-1.023000	0.03342	-0.844000	0.03045	GCG		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	9	0	0	0	1	0	4	9				
GPC5	2262	broad.mit.edu	37	13	93518540	93518540	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr13:93518540C>T	ENST00000377067.3	+	8	1939	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	523					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TACAGGGATGCCAGATGATAT	0.433																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1567-1569)Cca>Tca		glypican 5							167.0	139.0	148.0					13																	93518540		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518540C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1567C>T	13.37:g.93518540C>T	ENSP00000366267:p.Pro523Ser						p.P523S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	1939	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	523					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1567C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710927	0.48517	.	.	ENSG00000179399	ENST00000377067	T	0.46451	0.87	5.81	5.81	0.92471	.	0.000000	0.44688	D	0.000428	T	0.51517	0.1679	L	0.27053	0.805	0.37959	D	0.932898	D	0.89917	1.0	D	0.91635	0.999	T	0.46803	-0.9165	10	0.23891	T	0.37	-11.9822	17.2244	0.86965	0.0:1.0:0.0:0.0	.	523	P78333	GPC5_HUMAN	S	523	ENSP00000366267:P523S	ENSP00000366267:P523S	P	+	1	0	GPC5	92316541	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	4.835000	0.62781	2.734000	0.93682	0.650000	0.86243	CCA		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		7	43	0	0	0	1	0	7	43				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862774	10862774	+	RNA	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr21:10862774G>A	ENST00000559480.1	+	0	70							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGTACAGCTGGTGCAGTCTGG	0.552																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26																																														0							g.chr21:10862774G>A			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862774G>A														0	70	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.552	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		29	343	0	0	0	1	0	29	343				
AZGP1P1	646282	broad.mit.edu	37	7	99578411	99578411	+	RNA	SNP	T	T	C	rs62484970		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:99578411T>C	ENST00000425474.1	+	0	27					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AAGAATGGTGTCTGTCCTGCT	0.582																																						ENST00000425474.1																			0																																																			0							g.chr7:99578411T>C	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578411T>C								NR_036679.1						0	27	+									RNA	SNP	ENST00000425474.1	37																																																																																						0.582	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			6	126	0	0	0	1	0	6	126				
PHAX	51808	broad.mit.edu	37	5	125960507	125960507	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:125960507G>A	ENST00000297540.4	+	5	1851	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	386					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CATTGAAGTTGATCATTCTCA	0.388																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(1156-1158)Gat>Aat		phosphorylated adaptor for RNA export							99.0	103.0	102.0					5																	125960507		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125960507G>A	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1156G>A	5.37:g.125960507G>A	ENSP00000297540:p.Asp386Asn						p.D386N	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			5	1851	+			386					Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.1156G>A	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384151	0.82792	.	.	ENSG00000164902	ENST00000297540	T	0.50813	0.73	5.4	5.4	0.78164	.	0.129309	0.51477	D	0.000096	T	0.46756	0.1409	L	0.29908	0.895	0.42832	D	0.994027	D	0.62365	0.991	P	0.47864	0.559	T	0.49173	-0.8967	10	0.54805	T	0.06	-22.2971	19.1814	0.93625	0.0:0.0:1.0:0.0	.	386	Q9H814	PHAX_HUMAN	N	386	ENSP00000297540:D386N	ENSP00000297540:D386N	D	+	1	0	PHAX	125988406	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.173000	0.71937	2.538000	0.85594	0.563000	0.77884	GAT		0.388	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		14	53	0	0	0	1	0	14	53				
PPAN	56342	broad.mit.edu	37	19	10220890	10220890	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:10220890C>T	ENST00000253107.7	+	8	896	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.R264W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R264W|SNORD105_ENST00000386910.1_RNA|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.R264W|PPAN_ENST00000393793.1_Missense_Mutation_p.R211W	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	264	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R264W(2)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGCAACATGCGGGCCCAGCA	0.692																																						ENST00000428358.1																			2	Substitution - Missense(2)	p.R264W(2)	prostate(2)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(790-792)Cgg>Tgg									20.0	25.0	23.0					19																	10220890		2203	4297	6500	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220890C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.790C>T	19.37:g.10220890C>T	ENSP00000253107:p.Arg264Trp					PPAN_ENST00000393793.1_Missense_Mutation_p.R211W|PPAN_ENST00000253107.7_Missense_Mutation_p.R264W|PPAN_ENST00000556468.1_Missense_Mutation_p.R264W|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R264W	p.R264W	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		8	962	+			264			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.790C>T	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902557	0.52227	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T	0.62498	1.46;0.02;1.48;0.02;1.48	4.82	3.76	0.43208	Brix domain (3);	.	.	.	.	T	0.57080	0.2029	N	0.24115	0.695	0.33269	D	0.560731	D;D;D	0.69078	0.995;0.995;0.997	P;P;P	0.53722	0.625;0.733;0.733	T	0.67019	-0.5776	9	0.66056	D	0.02	-23.0651	9.5663	0.39400	0.4246:0.5754:0.0:0.0	.	264;264;264	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	W	264;264;264;264;264;211;202	ENSP00000411918:R264W;ENSP00000377385:R264W;ENSP00000253107:R264W;ENSP00000450710:R264W;ENSP00000377382:R211W	ENSP00000253107:R264W	R	+	1	2	PPAN;PPAN-P2RY11	10081890	0.874000	0.30092	0.997000	0.53966	0.022000	0.10575	0.685000	0.25378	2.226000	0.72624	0.561000	0.74099	CGG		0.692	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		3	25	0	0	0	1	0	3	25				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			5	41	0	0	0	1	0	5	41				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		3	17	1	0	0.115264	1	0.115264	3	17				
HIRIP3	8479	broad.mit.edu	37	16	30006000	30006000	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr16:30006000C>T	ENST00000279392.3	-	4	1296	c.466G>A	c.(466-468)Gga>Aga	p.G156R	INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	156	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTCTCCTCTCCCCTCTGTGCG	0.567																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(466-468)Gga>Aga		HIRA interacting protein 3							194.0	205.0	202.0					16																	30006000		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006000C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.466G>A	16.37:g.30006000C>T	ENSP00000279392:p.Gly156Arg					HIRIP3_ENST00000564026.1_Intron	p.G156R	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1296	-			156			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.466G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	1.278	-0.611273	0.03690	.	.	ENSG00000149929	ENST00000279392	T	0.34667	1.35	4.26	0.106	0.14540	.	0.956354	0.08578	N	0.925015	T	0.24586	0.0596	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.29941	-0.9995	10	0.21014	T	0.42	0.1425	7.238	0.26079	0.0:0.5096:0.0:0.4904	.	156	Q9BW71	HIRP3_HUMAN	R	156	ENSP00000279392:G156R	ENSP00000279392:G156R	G	-	1	0	HIRIP3	29913501	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.470000	0.02346	-0.029000	0.13827	-0.469000	0.05056	GGA		0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		61	224	0	0	0	1	0	61	224				
DPM1	8813	broad.mit.edu	37	20	49576665	49576665	+	5'Flank	SNP	C	C	G			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr20:49576665C>G	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Nonsense_Mutation_p.S429*|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAGTCCTTATCAGCAGCTCAA	0.507																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1285-1287)tCa>tGa		molybdenum cofactor synthesis 3							80.0	84.0	83.0					20																	49576665		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576665C>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576665C>G	Exception_encountered						p.S429*	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	1303	+			429		S -> A (in dbSNP:rs7269297).	Rhodanese.		O15157|Q6IB78|Q96HK0	Nonsense_Mutation	SNP	ENST00000371588.5	37	c.1286C>G	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541768	0.65198	.	.	ENSG00000124217	ENST00000244051	.	.	.	5.14	4.17	0.49024	.	0.810483	0.11612	N	0.546682	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2116	5.2228	0.15377	0.0:0.6615:0.2096:0.129	.	.	.	.	X	429	.	.	S	+	2	0	MOCS3	49010072	0.011000	0.17503	0.005000	0.12908	0.519000	0.34347	1.765000	0.38481	1.342000	0.45619	0.591000	0.81541	TCA		0.507	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		29	87	0	0	0	1	0	29	87				
GPR42	2866	broad.mit.edu	37	19	35863030	35863030	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:35863030T>G	ENST00000454971.1	+	2	970	c.769T>G	c.(769-771)Tgg>Ggg	p.W257G	GPR42_ENST00000597214.1_Missense_Mutation_p.W257G			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	257						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AAGCCCGGTGTGGAGGATCTA	0.587																																						ENST00000454971.1																			0				endometrium(1)|kidney(1)|skin(2)	4						c.(769-771)Tgg>Ggg		G protein-coupled receptor 42 (gene/pseudogene)							38.0	58.0	51.0					19																	35863030		1539	3115	4654	SO:0001583	missense	2866							g.chr19:35863030T>G	AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.769T>G	19.37:g.35863030T>G	ENSP00000410925:p.Trp257Gly					GPR42_ENST00000597214.1_Missense_Mutation_p.W257G	p.W257G					Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	970	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000454971.1	37	c.769T>G		.	.	.	.	.	.	.	.	.	.	T	13.24	2.177018	0.38413	.	.	ENSG00000126251	ENST00000454971	T	0.36520	1.25	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	.	.	.	0.45439	D	0.998416	D	0.89917	1.0	D	0.79784	0.993	T	0.56866	-0.7908	9	0.42905	T	0.14	-15.3728	11.882	0.52581	0.0:0.0:0.0:1.0	.	257	O15529	GPR42_HUMAN	G	257	ENSP00000410925:W257G	ENSP00000410925:W257G	W	+	1	0	GPR42	40554870	1.000000	0.71417	0.850000	0.33497	0.022000	0.10575	4.951000	0.63610	1.754000	0.51921	0.482000	0.46254	TGG		0.587	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347518.1	NM_005305		33	122	0	0	0	1	0	33	122				
SLC4A8	9498	broad.mit.edu	37	12	51863511	51863511	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr12:51863511C>T	ENST00000453097.2	+	12	1680	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	SLC4A8_ENST00000394856.1_Missense_Mutation_p.A435V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A435V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A515V|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A435V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTACTGTGCCTGCATGTCA	0.512																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1462-1464)gCc>gTc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							246.0	209.0	222.0					12																	51863511		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863511C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1463C>T	12.37:g.51863511C>T	ENSP00000405812:p.Ala488Val					SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A435V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A435V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A435V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A515V	p.A488V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1680	+			488						Missense_Mutation	SNP	ENST00000453097.2	37	c.1463C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663632	0.96745	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.69	5.69	0.88448	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;0.992;1.0;0.998;0.987;0.999	P;P;D;D;D;D	0.91635	0.715;0.899;0.999;0.98;0.967;0.981	D	0.93701	0.7015	10	0.87932	D	0	.	18.9789	0.92748	0.0:1.0:0.0:0.0	.	435;515;435;488;488;488	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	V	435;515;488;435;488;435;435	ENSP00000441520:A435V;ENSP00000351483:A515V;ENSP00000405812:A488V;ENSP00000378325:A435V;ENSP00000442561:A435V	ENSP00000315789:A488V	A	+	2	0	SLC4A8	50149778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GCC		0.512	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		19	82	0	0	0	1	0	19	82				
POR	5447	broad.mit.edu	37	7	75614476	75614476	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:75614476T>C	ENST00000461988.1	+	12	1454	c.1349T>C	c.(1348-1350)cTg>cCg	p.L450P	POR_ENST00000419840.1_Missense_Mutation_p.L264P|POR_ENST00000450476.1_Missense_Mutation_p.L349P|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000439269.1_Missense_Mutation_p.L188P|POR_ENST00000545601.1_Missense_Mutation_p.L258P|POR_ENST00000394893.1_Missense_Mutation_p.L450P	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	447	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CTGTGTGAGCTGCTGCCGCGC	0.697																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(1348-1350)cTg>cCg		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						17.0	24.0	22.0					7																	75614476		2060	4179	6239	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75614476T>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1349T>C	7.37:g.75614476T>C	ENSP00000419970:p.Leu450Pro					POR_ENST00000461988.1_Missense_Mutation_p.L450P|POR_ENST00000419840.1_Missense_Mutation_p.L264P|POR_ENST00000450476.1_Missense_Mutation_p.L349P|POR_ENST00000545601.1_Missense_Mutation_p.L258P|POR_ENST00000439269.1_Missense_Mutation_p.L188P	p.L450P			P16435	NCPR_HUMAN			12	1369	+			447			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.1349T>C	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087413	0.36855	.	.	ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.14	2.56	0.30785	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.143577	0.48286	D	0.000187	D	0.93926	0.8056	H	0.96633	3.855	0.80722	D	1	P;D;D;D	0.89917	0.954;1.0;0.999;0.999	P;D;D;D	0.87578	0.824;0.998;0.992;0.994	D	0.93402	0.6761	10	0.87932	D	0	-31.8255	9.3623	0.38203	0.2846:0.0:0.0:0.7153	.	447;349;258;456	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	P	450;264;450;258;349;188	ENSP00000419970:L450P;ENSP00000414244:L264P;ENSP00000378355:L450P;ENSP00000446149:L258P;ENSP00000416572:L349P;ENSP00000412490:L188P	ENSP00000378355:L450P	L	+	2	0	POR	75452412	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.978000	0.70501	0.770000	0.33336	-0.496000	0.04628	CTG		0.697	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		6	35	0	0	0	1	0	6	35				
COG4	25839	broad.mit.edu	37	16	70530189	70530189	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr16:70530189C>T	ENST00000323786.5	-	12	1648	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	539					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATCTTCGCCTCGTCAGTACTC	0.527																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(1627-1629)Gag>Aag		component of oligomeric golgi complex 4							145.0	111.0	122.0					16																	70530189		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70530189C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1627G>A	16.37:g.70530189C>T	ENSP00000315775:p.Glu543Lys						p.E543K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			12	1648	-		Ovarian(137;0.0694)	539					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1627G>A	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343455	0.24339	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.46451	0.87	6.04	6.04	0.98038	.	0.131310	0.64402	D	0.000001	T	0.31888	0.0811	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.29862	0.006;0.011;0.011;0.259	B;B;B;B	0.20384	0.001;0.004;0.001;0.029	T	0.08126	-1.0737	10	0.15952	T	0.53	-21.3634	20.5792	0.99380	0.0:1.0:0.0:0.0	.	449;538;539;20	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	K	543;539;20;201	ENSP00000315775:E543K	ENSP00000315775:E543K	E	-	1	0	COG4	69087690	0.998000	0.40836	0.996000	0.52242	0.955000	0.61496	3.781000	0.55394	2.873000	0.98535	0.561000	0.74099	GAG		0.527	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			9	36	0	0	0	1	0	9	36				
PC	5091	broad.mit.edu	37	11	66617415	66617415	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:66617415C>T	ENST00000393958.2	-	19	2984	c.2891G>A	c.(2890-2892)cGc>cAc	p.R964H	PC_ENST00000393955.2_Missense_Mutation_p.R964H|PC_ENST00000393960.1_Missense_Mutation_p.R964H|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_Missense_Mutation_p.R84H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	964					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TACCTTAGAGCGAAAGGGTTC	0.627																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2890-2892)cGc>cAc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						33.0	38.0	36.0					11																	66617415		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617415C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2891G>A	11.37:g.66617415C>T	ENSP00000377530:p.Arg964His					PC_ENST00000393955.2_Missense_Mutation_p.R964H|PC_ENST00000529047.1_Missense_Mutation_p.R84H|PC_ENST00000393958.2_Missense_Mutation_p.R964H	p.R964H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	20	3172	-		Melanoma(852;0.0525)	964					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2891G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325727	0.81580	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96265	-1.85;-3.96;-3.96;-3.96	5.01	5.01	0.66863	Carboxylase, conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99316	1.0905	10	0.87932	D	0	-27.0792	15.8561	0.78979	0.0:1.0:0.0:0.0	.	964	P11498	PYC_HUMAN	H	84;964;964;964	ENSP00000435905:R84H;ENSP00000377527:R964H;ENSP00000377530:R964H;ENSP00000377532:R964H	ENSP00000377527:R964H	R	-	2	0	PC	66373991	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.653000	0.67967	2.603000	0.88011	0.462000	0.41574	CGC		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		13	45	0	0	0	1	0	13	45				
SH3BP4	23677	broad.mit.edu	37	2	235950264	235950264	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:235950264G>A	ENST00000409212.1	+	4	1358	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R284Q|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R284Q			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	284					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GAGGATTTTCGAACTGCCTGG	0.592																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(850-852)cGa>cAa		SH3-domain binding protein 4							44.0	54.0	51.0					2																	235950264		2203	4299	6502	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950264G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.851G>A	2.37:g.235950264G>A	ENSP00000386862:p.Arg284Gln					SH3BP4_ENST00000344528.4_Missense_Mutation_p.R284Q|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R284Q	p.R284Q			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1358	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	284					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.851G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707369	0.68615	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.12255	2.7;2.7;2.7	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.57536	1.79	0.58432	D	0.99999	D;D	0.71674	0.998;0.998	P;P	0.54499	0.754;0.754	T	0.01578	-1.1320	10	0.72032	D	0.01	-16.5223	13.3919	0.60829	0.0764:0.0:0.9236:0.0	.	284;284	A8K594;Q9P0V3	.;SH3B4_HUMAN	Q	284	ENSP00000375867:R284Q;ENSP00000386862:R284Q;ENSP00000340237:R284Q	ENSP00000340237:R284Q	R	+	2	0	SH3BP4	235615003	1.000000	0.71417	0.038000	0.18304	0.594000	0.36715	9.549000	0.98106	1.354000	0.45846	0.650000	0.86243	CGA		0.592	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			28	69	0	0	0	1	0	28	69				
PTTG1IP	754	broad.mit.edu	37	21	46276212	46276212	+	Silent	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr21:46276212G>A	ENST00000330938.3	-	4	565	c.345C>T	c.(343-345)atC>atT	p.I115I	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Silent_p.I94I|PTTG1IP_ENST00000494690.1_5'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	115					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AGCAGCAGCAGATGGCAATGC	0.622																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(343-345)atC>atT		pituitary tumor-transforming 1 interacting protein							105.0	86.0	93.0					21																	46276212		2203	4300	6503	SO:0001819	synonymous_variant	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276212G>A	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.345C>T	21.37:g.46276212G>A						PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Silent_p.I94I	p.I115I	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	565	-			115					B2RDP7|D3DSL9|Q9NS09	Silent	SNP	ENST00000330938.3	37	c.345C>T	CCDS13715.1																																																																																				0.622	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			9	49	0	0	0	1	0	9	49				
MUC2	4583	broad.mit.edu	37	11	1083312	1083312	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:1083312G>A	ENST00000441003.2	+	16	2239	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	MUC2_ENST00000359061.5_Missense_Mutation_p.E738K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	738					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGCAGGAAGAACGATGGTG	0.662																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2212-2214)Gaa>Aaa		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						24.0	28.0	27.0					11																	1083312		1977	4138	6115	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083312G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2212G>A	11.37:g.1083312G>A	ENSP00000415183:p.Glu738Lys					MUC2_ENST00000359061.5_Missense_Mutation_p.E738K	p.E738K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2239	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	738					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	g	12.91	2.078905	0.36662	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.21361	2.01;2.01	4.12	3.21	0.36854	.	0.188025	0.30949	U	0.008548	T	0.16938	0.0407	L	0.49571	1.57	0.26033	N	0.981717	B	0.22909	0.077	B	0.24394	0.053	T	0.29731	-1.0002	10	0.06494	T	0.89	.	11.7993	0.52118	0.0873:0.0:0.9127:0.0	.	738	E7EUV1	.	K	738	ENSP00000415183:E738K;ENSP00000351956:E738K	ENSP00000351956:E738K	E	+	1	0	MUC2	1073312	0.978000	0.34361	0.810000	0.32431	0.135000	0.20990	3.258000	0.51507	0.955000	0.37878	0.457000	0.33378	GAA		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	13	0	0	0	1	0	6	13				
PTPN13	5783	broad.mit.edu	37	4	87724940	87724940	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr4:87724940C>A	ENST00000411767.2	+	43	6647	c.6584C>A	c.(6583-6585)gCc>gAc	p.A2195D	PTPN13_ENST00000511467.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2176D|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2004D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2195					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACACGGGTGCCAACTTAAAA	0.463																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6598-6600)gCc>gAc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							164.0	154.0	157.0					4																	87724940		1908	4118	6026	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87724940C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6584C>A	4.37:g.87724940C>A	ENSP00000407249:p.Ala2195Asp					PTPN13_ENST00000316707.6_Missense_Mutation_p.A2004D|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2200D|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2176D|PTPN13_ENST00000411767.2_Missense_Mutation_p.A2195D	p.A2200D	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	43	7079	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2195					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6599C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667291	0.47677	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.18	3.33	0.38152	.	1.069620	0.07360	N	0.883931	T	0.12305	0.0299	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.31893	0.159;0.116;0.234;0.345	B;B;B;B	0.28385	0.043;0.089;0.041;0.089	T	0.28586	-1.0039	10	0.26408	T	0.33	.	12.5702	0.56332	0.1309:0.7429:0.1262:0.0	.	2004;2176;2195;2200	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	2176;2200;2004;2195;2200;2144	ENSP00000408368:A2176D;ENSP00000394794:A2200D;ENSP00000322675:A2004D;ENSP00000407249:A2195D;ENSP00000426626:A2200D	ENSP00000322675:A2004D	A	+	2	0	PTPN13	87943964	0.036000	0.19791	0.003000	0.11579	0.979000	0.70002	2.444000	0.44890	1.287000	0.44583	0.555000	0.69702	GCC		0.463	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			11	103	1	0	1.08611e-07	1	1.14041e-07	11	103				
RTF1	23168	broad.mit.edu	37	15	41750043	41750043	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr15:41750043C>T	ENST00000389629.4	+	4	643	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	211	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACTGTTCAATCGCATAGAGAA	0.502																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(631-633)Cgc>Tgc		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							141.0	141.0	141.0					15																	41750043		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41750043C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.631C>T	15.37:g.41750043C>T	ENSP00000374280:p.Arg211Cys						p.R211C	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	643	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	211			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.631C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952892	0.53293	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.81341	2.54	0.80722	D	1	B	0.19073	0.033	B	0.12156	0.007	T	0.71842	-0.4470	9	0.87932	D	0	-0.9363	17.343	0.87301	0.1335:0.8665:0.0:0.0	.	211	Q92541	RTF1_HUMAN	C	211	.	ENSP00000374280:R211C	R	+	1	0	RTF1	39537335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.754000	0.55189	2.697000	0.92050	0.655000	0.94253	CGC		0.502	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		22	76	0	0	0	1	0	22	76				
DGKB	1607	broad.mit.edu	37	7	14620522	14620522	+	Missense_Mutation	SNP	C	C	T	rs371033055		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:14620522C>T	ENST00000403951.2	-	19	1996	c.1577G>A	c.(1576-1578)gGc>gAc	p.G526D	DGKB_ENST00000406247.3_Missense_Mutation_p.G526D|DGKB_ENST00000402815.1_Missense_Mutation_p.G525D|DGKB_ENST00000258767.5_Missense_Mutation_p.G526D|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G526D|DGKB_ENST00000407950.1_Missense_Mutation_p.G518D|DGKB_ENST00000444700.2_Missense_Mutation_p.G507D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	526	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAGATCATTGCCAGTCCCAAG	0.418																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1576-1578)gGc>gAc		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						87.0	80.0	82.0					7																	14620522		1950	4165	6115	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14620522C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1577G>A	7.37:g.14620522C>T	ENSP00000385780:p.Gly526Asp					DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G518D|DGKB_ENST00000406247.3_Missense_Mutation_p.G526D|DGKB_ENST00000258767.5_Missense_Mutation_p.G526D|DGKB_ENST00000399322.3_Missense_Mutation_p.G526D|DGKB_ENST00000444700.2_Missense_Mutation_p.G507D|DGKB_ENST00000402815.1_Missense_Mutation_p.G525D	p.G526D			Q9Y6T7	DGKB_HUMAN			19	1996	-			526			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1577G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543468	0.96474	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.77	5.77	0.91146	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	H	0.96633	3.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81488	-0.0910	10	0.87932	D	0	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	525;507;526;526	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	D	526;526;526;525;518;507;526	ENSP00000385780:G526D;ENSP00000382260:G526D;ENSP00000258767:G526D;ENSP00000384909:G525D;ENSP00000385031:G518D;ENSP00000388451:G507D;ENSP00000386066:G526D	ENSP00000258767:G526D	G	-	2	0	DGKB	14587047	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.814000	0.86154	2.718000	0.92993	0.591000	0.81541	GGC		0.418	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		16	27	0	0	0	1	0	16	27				
WDR54	84058	broad.mit.edu	37	2	74652207	74652207	+	Missense_Mutation	SNP	C	C	T	rs187456631		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:74652207C>T	ENST00000348227.4	+	8	729	c.641C>T	c.(640-642)cCg>cTg	p.P214L	WDR54_ENST00000409791.1_Missense_Mutation_p.P162L|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	214										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGCAGAGTTCCGTGCCCCTCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21820	0.001		0.0	False		,,,				2504	0.0					ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(640-642)cCg>cTg		WD repeat domain 54							60.0	62.0	61.0					2																	74652207		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652207C>T	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.641C>T	2.37:g.74652207C>T	ENSP00000006526:p.Pro214Leu					WDR54_ENST00000409791.1_Missense_Mutation_p.P162L|WDR54_ENST00000461531.1_3'UTR	p.P214L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			8	729	+			214					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.641C>T	CCDS1940.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.58	3.424880	0.62733	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	.	.	.	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.353444	0.28225	N	0.016135	T	0.50205	0.1602	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	P	0.46253	0.509	T	0.42899	-0.9424	9	0.19147	T	0.46	-11.7489	13.4759	0.61308	0.0:1.0:0.0:0.0	.	214	Q9H977	WDR54_HUMAN	L	162;214	.	ENSP00000006526:P214L	P	+	2	0	WDR54	74505715	0.122000	0.22280	0.959000	0.39883	0.909000	0.53808	1.422000	0.34826	2.554000	0.86153	0.561000	0.74099	CCG		0.532	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		15	39	0	0	0	1	0	15	39				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		11	56	0	0	0	1	0	11	56				
AKAP2	11217	broad.mit.edu	37	9	112899916	112899916	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr9:112899916A>G	ENST00000259318.7	+	2	1606	c.1399A>G	c.(1399-1401)Acc>Gcc	p.T467A	AKAP2_ENST00000555236.1_Missense_Mutation_p.T698A|AKAP2_ENST00000434623.2_Missense_Mutation_p.T556A|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T698A|AKAP2_ENST00000510514.5_Missense_Mutation_p.T698A|AKAP2_ENST00000374525.1_Missense_Mutation_p.T556A|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.T698A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	467										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TGTCTCCTTGACCCAAGAGGA	0.502																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2092-2094)Acc>Gcc									112.0	111.0	111.0					9																	112899916		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899916A>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1399A>G	9.37:g.112899916A>G	ENSP00000259318:p.Thr467Ala					PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T698A|AKAP2_ENST00000555236.1_Missense_Mutation_p.T698A|AKAP2_ENST00000259318.7_Missense_Mutation_p.T467A|AKAP2_ENST00000510514.5_Missense_Mutation_p.T698A|AKAP2_ENST00000434623.2_Missense_Mutation_p.T556A|AKAP2_ENST00000374525.1_Missense_Mutation_p.T556A	p.T698A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2272	+			467					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2092A>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824775	0.50739	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.44083	2.26;2.26;2.26;2.26;1.51;0.93;0.93;1.53	5.86	4.75	0.60458	.	0.156460	0.56097	D	0.000022	T	0.23054	0.0557	N	0.08118	0	0.31740	N	0.635885	P;P;P;P;P;B;B;B	0.47302	0.495;0.783;0.893;0.783;0.677;0.372;0.372;0.255	B;B;B;B;B;B;B;B	0.41946	0.077;0.287;0.371;0.287;0.15;0.121;0.121;0.057	T	0.12218	-1.0556	10	0.29301	T	0.29	-35.7256	10.5434	0.45045	0.6524:0.3476:0.0:0.0	.	467;556;550;556;557;698;698;516	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	A	698;698;698;698;556;556;516;467	ENSP00000363654:T698A;ENSP00000305861:T698A;ENSP00000451476:T698A;ENSP00000421522:T698A;ENSP00000404782:T556A;ENSP00000363649:T556A;ENSP00000419268:T516A;ENSP00000259318:T467A	ENSP00000259318:T467A	T	+	1	0	PALM2-AKAP2;AKAP2	111939737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.913000	0.69957	2.225000	0.72522	0.533000	0.62120	ACC		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		21	88	0	0	0	1	0	21	88				
SH3TC1	54436	broad.mit.edu	37	4	8218801	8218801	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr4:8218801C>T	ENST00000245105.3	+	7	813	c.746C>T	c.(745-747)gCc>gTc	p.A249V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A173V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	249										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGAGAGGCGGCCCCGGAAACA	0.657																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(517-519)gCc>gTc		SH3 domain and tetratricopeptide repeats 1							31.0	35.0	34.0					4																	8218801		2203	4299	6502	SO:0001583	missense	54436						binding	g.chr4:8218801C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.746C>T	4.37:g.8218801C>T	ENSP00000245105:p.Ala249Val					SH3TC1_ENST00000245105.3_Missense_Mutation_p.A249V	p.A173V			Q8TE82	S3TC1_HUMAN			7	892	+			249					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.518C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813635	0.16537	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.75589	-0.95;-0.94;0.47	3.75	1.72	0.24424	.	2.299120	0.01836	N	0.035010	T	0.54127	0.1839	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.42430	-0.9452	10	0.12103	T	0.63	-1.5255	1.6515	0.02773	0.2724:0.4383:0.1628:0.1265	.	249	Q8TE82	S3TC1_HUMAN	V	249;173;78;58	ENSP00000245105:A249V;ENSP00000441045:A173V;ENSP00000426035:A58V	ENSP00000245105:A249V	A	+	2	0	SH3TC1	8269701	0.000000	0.05858	0.002000	0.10522	0.378000	0.30076	0.192000	0.17096	0.655000	0.30866	0.462000	0.41574	GCC		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	39	0	0	0	1	0	7	39				
MFRP	83552	broad.mit.edu	37	11	119214632	119214632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:119214632C>A	ENST00000530681.1	-	9	1162	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Nonsense_Mutation_p.E340*|MFRP_ENST00000529147.1_5'Flank|MFRP_ENST00000449574.2_Nonsense_Mutation_p.E340*|MFRP_ENST00000360167.4_Intron	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	340	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AACTGTAGTTCTATGCTGTGT	0.582																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1018-1020)Gaa>Taa		membrane frizzled-related protein							140.0	115.0	123.0					11																	119214632		2199	4295	6494	SO:0001587	stop_gained	83552							g.chr11:119214632C>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1018G>T	11.37:g.119214632C>A	ENSP00000456533:p.Glu340*					MFRP_ENST00000449574.2_Nonsense_Mutation_p.E340*|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Nonsense_Mutation_p.E340*|MFRP_ENST00000360167.4_Intron	p.E340*	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	9	1177	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Nonsense_Mutation	SNP	ENST00000530681.1	37	c.1018G>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	36	5.835468	0.97003	.	.	ENSG00000235718	ENST00000555262;ENST00000449574	.	.	.	5.37	3.43	0.39272	.	0.476046	0.23062	N	0.052376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.5134	6.1658	0.20390	0.0:0.6743:0.1557:0.1699	.	.	.	.	X	340	.	ENSP00000391664:E340X	E	-	1	0	MFRP	118719842	0.848000	0.29623	0.008000	0.14137	0.837000	0.47467	1.433000	0.34947	0.687000	0.31509	0.563000	0.77884	GAA		0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		25	73	1	0	2.41591e-17	1	2.5797e-17	25	73				
TRIM23	373	broad.mit.edu	37	5	64887703	64887703	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr5:64887703T>A	ENST00000231524.9	-	11	1989	c.1618A>T	c.(1618-1620)Agc>Tgc	p.S540C	TRIM23_ENST00000381018.3_Missense_Mutation_p.S540C|TRIM23_ENST00000274327.7_Missense_Mutation_p.S540C	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	540	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATATACCAGCTACGGCCACAG	0.438																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1618-1620)Agc>Tgc		tripartite motif containing 23							99.0	94.0	96.0					5																	64887703		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64887703T>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1618A>T	5.37:g.64887703T>A	ENSP00000231524:p.Ser540Cys					TRIM23_ENST00000381018.3_Missense_Mutation_p.S540C|TRIM23_ENST00000274327.7_Missense_Mutation_p.S540C	p.S540C	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	11	1989	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	540			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1618A>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718043	0.68844	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;T	0.82803	-1.65;-1.65;-0.85	5.56	5.56	0.83823	.	0.037929	0.85682	D	0.000000	D	0.87853	0.6282	L	0.47016	1.485	0.58432	D	0.999999	P;D;D	0.76494	0.808;0.999;0.995	P;D;D	0.67103	0.742;0.927;0.949	D	0.88990	0.3414	10	0.72032	D	0.01	.	15.714	0.77652	0.0:0.0:0.0:1.0	.	540;540;540	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	C	540	ENSP00000231524:S540C;ENSP00000370406:S540C;ENSP00000274327:S540C	ENSP00000231524:S540C	S	-	1	0	TRIM23	64923459	1.000000	0.71417	0.999000	0.59377	0.439000	0.31926	7.982000	0.88131	2.108000	0.64289	0.459000	0.35465	AGC		0.438	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		10	62	0	0	0	1	0	10	62				
NGF	4803	broad.mit.edu	37	1	115828787	115828787	+	Silent	SNP	C	C	T	rs112292538		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr1:115828787C>T	ENST00000369512.2	-	3	798	c.630G>A	c.(628-630)gcG>gcA	p.A210A	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	210					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCATGGTCAGCGCCTTGACAA	0.572																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(628-630)gcG>gcA		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						79.0	79.0	79.0					1																	115828787		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828787C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.630G>A	1.37:g.115828787C>T						RP4-663N10.1_ENST00000425449.1_RNA	p.A210A	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	798	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	210					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.630G>A	CCDS882.1																																																																																				0.572	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		27	74	0	0	0	1	0	27	74				
ANKLE1	126549	broad.mit.edu	37	19	17396247	17396247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:17396247C>T	ENST00000394458.3	+	7	1660	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	ANKLE1_ENST00000433424.2_Silent_p.L430L|ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.Q458*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.Q436*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.Q425*	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	462	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CAGGGAGACTCAGGACCTGCC	0.567																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1384-1386)Cag>Tag		ankyrin repeat and LEM domain containing 1							104.0	115.0	112.0					19																	17396247		2203	4300	6503	SO:0001587	stop_gained	126549					nuclear envelope		g.chr19:17396247C>T	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1384C>T	19.37:g.17396247C>T	ENSP00000377971:p.Gln462*					ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.Q436*|ANKLE1_ENST00000433424.2_Silent_p.L430L|ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.Q458*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.Q425*	p.Q462*	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			7	1660	+			462					A8VU82|Q8N8J8	Nonsense_Mutation	SNP	ENST00000394458.3	37	c.1384C>T	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	C	31	5.072918	0.93950	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	.	.	.	4.42	3.35	0.38373	.	0.255981	0.33834	N	0.004509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-8.4474	11.0141	0.47679	0.1949:0.8051:0.0:0.0	.	.	.	.	X	462;458;425;436	.	ENSP00000377971:Q425X	Q	+	1	0	ANKLE1	17257247	0.993000	0.37304	0.051000	0.19133	0.486000	0.33341	3.169000	0.50809	1.012000	0.39366	0.542000	0.68232	CAG		0.567	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		33	101	0	0	0	1	0	33	101				
LRRC37A11P	342666	broad.mit.edu	37	17	37186422	37186422	+	RNA	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr17:37186422G>A	ENST00000425901.2	+	0	264					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		TGTTAATAATGAGAACCCCTC	0.547																																						ENST00000425901.2																			0																																																			0							g.chr17:37186422G>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186422G>A								NR_033753.2						0	264	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.547	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		10	66	0	0	0	1	0	10	66				
BIN1	274	broad.mit.edu	37	2	127821186	127821186	+	Silent	SNP	G	G	A	rs184358580		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr2:127821186G>A	ENST00000316724.5	-	9	1146	c.735C>T	c.(733-735)atC>atT	p.I245I	BIN1_ENST00000259238.4_Silent_p.I214I|BIN1_ENST00000376113.2_Silent_p.I214I|BIN1_ENST00000346226.3_Silent_p.I214I|BIN1_ENST00000393040.3_Silent_p.I214I|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Silent_p.I214I|BIN1_ENST00000351659.3_Silent_p.I245I|BIN1_ENST00000393041.3_Silent_p.I214I|BIN1_ENST00000357970.3_Silent_p.I245I|BIN1_ENST00000352848.3_Silent_p.I214I|BIN1_ENST00000409400.1_Silent_p.I214I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	245	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCAGGCCCGCGATGCTCTGGA	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19083	0.0		0.0	False		,,,				2504	0.0					ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(733-735)atC>atT		bridging integrator 1							92.0	71.0	78.0					2																	127821186		2203	4300	6503	SO:0001819	synonymous_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127821186G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.735C>T	2.37:g.127821186G>A						BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.I214I|BIN1_ENST00000352848.3_Silent_p.I214I|BIN1_ENST00000376113.2_Silent_p.I214I|BIN1_ENST00000409400.1_Silent_p.I214I|BIN1_ENST00000393041.3_Silent_p.I214I|BIN1_ENST00000346226.3_Silent_p.I214I|BIN1_ENST00000357970.3_Silent_p.I245I|BIN1_ENST00000348750.4_Silent_p.I214I|BIN1_ENST00000393040.3_Silent_p.I214I|BIN1_ENST00000351659.3_Silent_p.I245I	p.I245I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1146	-	Colorectal(110;0.0831)		245			BAR.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	c.735C>T	CCDS2138.1																																																																																				0.597	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		7	21	0	0	0	1	0	7	21				
SORL1	6653	broad.mit.edu	37	11	121437783	121437783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:121437783C>T	ENST00000260197.7	+	22	3313	c.3184C>T	c.(3184-3186)Cag>Tag	p.Q1062*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1062	EGF-like.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACTGCCCTCAGGGCTATCA	0.527																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3184-3186)Cag>Tag		sortilin-related receptor, L(DLR class) A repeats containing							161.0	128.0	139.0					11																	121437783		2203	4299	6502	SO:0001587	stop_gained	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121437783C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3184C>T	11.37:g.121437783C>T	ENSP00000260197:p.Gln1062*					SORL1_ENST00000525532.1_Nonsense_Mutation_p.Q6*	p.Q1062*	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	22	3313	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1062			EGF-like.		B2RNX7|Q92856	Nonsense_Mutation	SNP	ENST00000260197.7	37	c.3184C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.217899	0.97385	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	.	.	.	4.38	3.45	0.39498	.	1.461070	0.04599	N	0.398153	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.9597	0.64170	0.1526:0.8474:0.0:0.0	.	.	.	.	X	1062;6	.	ENSP00000260197:Q1062X	Q	+	1	0	SORL1	120942993	0.000000	0.05858	0.308000	0.25141	0.933000	0.57130	0.764000	0.26532	0.922000	0.37019	0.467000	0.42956	CAG		0.527	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		7	32	0	0	0	1	0	7	32				
CGRRF1	10668	broad.mit.edu	37	14	54976644	54976644	+	De_novo_Start_InFrame	SNP	G	G	A	rs75987656	byFrequency	TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr14:54976644G>A	ENST00000216420.7	+	0	99					NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1						cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						gggctccgcggctggagccgg	0.622											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	242	0.0483227	0.0408	0.0605	5008	,	,		14612	0.0952		0.005	False		,,,				2504	0.046					ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13								cell growth regulator with ring finger domain 1		G		177,4229	115.4+/-153.4	4,169,2030	48.0	46.0	46.0			3.2	0.0	14	dbSNP_132	46	12,8588	9.8+/-36.6	0,12,4288	no	utr-5	CGRRF1	NM_006568.2		4,181,6318	AA,AG,GG		0.1395,4.0172,1.4532			54976644	189,12817	2203	4300	6503			10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54976644G>A	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308		14.37:g.54976644G>A			OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1004			NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			0	99	+								Q96BX2	Translation_Start_Site	SNP	ENST00000216420.7	37		CCDS9719.1																																																																																				0.622	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		4	58	0	0	0	1	0	4	58				
FKBP9	11328	broad.mit.edu	37	7	33014319	33014319	+	Silent	SNP	C	C	T	rs572685017		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:33014319C>T	ENST00000242209.4	+	2	481	c.312C>T	c.(310-312)aaC>aaT	p.N104N	FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.N157N	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	104	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.N104K(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGTGCGTAAACGAGAGACGTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20694	0.0		0.001	False		,,,				2504	0.0					ENST00000242209.4																			1	Substitution - Missense(1)	p.N104K(1)	lung(1)	central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(310-312)aaC>aaT		FK506 binding protein 9, 63 kDa							146.0	130.0	136.0					7																	33014319		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014319C>T	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.312C>T	7.37:g.33014319C>T						FKBP9_ENST00000538336.1_Silent_p.N157N|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron	p.N104N	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		2	481	+			104			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.312C>T	CCDS5439.1																																																																																				0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		22	99	0	0	0	1	0	22	99				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	54	0	0	0	1	0	10	54				
FAM19A5	25817	broad.mit.edu	37	22	49042492	49042492	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr22:49042492G>A	ENST00000402357.1	+	2	329	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	FAM19A5_ENST00000358295.5_Missense_Mutation_p.A59T|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	66						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCGGCAGACCGCCCGCTGTGC	0.697																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(175-177)Gcc>Acc		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							21.0	27.0	25.0					22																	49042492		2050	4185	6235	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042492G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.196G>A	22.37:g.49042492G>A	ENSP00000383933:p.Ala66Thr					FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A66T	p.A59T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	350	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	66					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.175G>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204945	0.95033	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77356	0.4118	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.946;0.995	T	0.79771	-0.1663	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	59;66	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	66;66;59	.	ENSP00000336812:A66T	A	+	1	0	FAM19A5	47428928	1.000000	0.71417	0.986000	0.45419	0.766000	0.43426	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCC		0.697	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		6	11	0	0	0	1	0	6	11				
C16orf82	162083	broad.mit.edu	37	16	27078386	27078386	+	lincRNA	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr16:27078386G>A	ENST00000505035.1	+	0	359				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		TGTCCAGAATGAGCAGGAAGG	0.587																																						ENST00000505035.1																			0																				26.0	30.0	29.0					16																	27078386		1990	4177	6167			0							g.chr16:27078386G>A	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078386G>A						RP11-673P17.2_ENST00000565783.1_RNA				Q7Z2V1	TNT_HUMAN			0	359	+								B9EGC2|Q8NEF0	RNA	SNP	ENST00000505035.1	37																																																																																						0.587	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		7	24	0	0	0	1	0	7	24				
HPN	3249	broad.mit.edu	37	19	35551536	35551536	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr19:35551536A>G	ENST00000262626.2	+	9	1451	c.626A>G	c.(625-627)aAc>aGc	p.N209S	HPN_ENST00000597419.1_Missense_Mutation_p.N51S|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.N209S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGTAGGCGGAACCGGGTCCTG	0.692																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(625-627)aAc>aGc		hepsin	Coagulation factor VIIa(DB00036)						61.0	55.0	57.0					19																	35551536		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551536A>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.626A>G	19.37:g.35551536A>G	ENSP00000262626:p.Asn209Ser					HPN_ENST00000597419.1_Missense_Mutation_p.N51S|HPN_ENST00000392226.1_Missense_Mutation_p.N209S|HPN-AS1_ENST00000392227.2_RNA	p.N209S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1451	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		209			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.626A>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	A	9.590	1.125860	0.20959	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.88431	-2.38;-2.38	4.66	3.63	0.41609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.168717	0.51477	D	0.000081	T	0.69895	0.3162	N	0.02854	-0.475	0.80722	D	1	B;P;B	0.44281	0.017;0.831;0.103	B;B;B	0.37198	0.024;0.243;0.036	T	0.67268	-0.5713	10	0.22706	T	0.39	.	8.8131	0.34978	0.8316:0.0:0.0:0.1684	.	181;209;209	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	S	209;209;181	ENSP00000262626:N209S;ENSP00000376060:N209S	ENSP00000262626:N209S	N	+	2	0	HPN	40243376	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	5.986000	0.70563	0.782000	0.33613	0.454000	0.30748	AAC		0.692	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		14	38	0	0	0	1	0	14	38				
CRHR1	1394	broad.mit.edu	37	17	43907507	43907507	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr17:43907507C>T	ENST00000398285.3	+	7	569	c.569C>T	c.(568-570)gCc>gTc	p.A190V	CRHR1_ENST00000577353.1_Missense_Mutation_p.A161V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A60V|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.A161V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A121V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCATCTCCGCCTTCATCCTG	0.627																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(481-483)gCc>gTc		corticotropin releasing hormone receptor 1							127.0	130.0	129.0					17																	43907507		2188	4279	6467	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907507C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.569C>T	17.37:g.43907507C>T	ENSP00000381333:p.Ala190Val					CRHR1_ENST00000398285.3_Missense_Mutation_p.A190V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A161V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A60V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A121V|CRHR1_ENST00000293493.7_5'UTR	p.A161V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	707	+	Colorectal(2;0.0416)		190					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.482C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598710	0.96614	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.42	5.42	0.78866	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.64404	1.975	0.80722	D	1	B;P;B;B;B;B	0.41848	0.203;0.763;0.152;0.152;0.203;0.203	B;P;B;B;B;B	0.46208	0.149;0.507;0.155;0.232;0.149;0.149	T	0.60372	-0.7276	10	0.87932	D	0	.	16.702	0.85351	0.0:1.0:0.0:0.0	.	161;190;60;60;121;161	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	60;190;161;161;121	ENSP00000340522:A60V;ENSP00000381333:A190V;ENSP00000326060:A161V;ENSP00000344068:A121V	ENSP00000326060:A161V	A	+	2	0	CRHR1	41263288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.543000	0.85770	0.561000	0.74099	GCC		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			15	84	0	0	0	1	0	15	84				
ABL1	25	broad.mit.edu	37	9	133760038	133760038	+	Silent	SNP	G	G	A			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr9:133760038G>A	ENST00000318560.5	+	11	2742	c.2361G>A	c.(2359-2361)gtG>gtA	p.V787V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	787	Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAGGCTGGTGAAAAAGAATG	0.612			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2359-2361)gtG>gtA		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						24.0	28.0	26.0					9																	133760038		2201	4299	6500	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760038G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2361G>A	9.37:g.133760038G>A							p.V787V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2742	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	787			Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.2361G>A	CCDS35166.1																																																																																				0.612	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		22	27	0	0	0	1	0	22	27				
AP5B1	91056	broad.mit.edu	37	11	65546685	65546685	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:65546685C>T	ENST00000532090.2	-	2	1489	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	427					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TCCTCTTCTTCCTCCTCGGCA	0.667																																						ENST00000532090.2																			0				lung(1)	1						c.(1279-1281)Gaa>Aaa		adaptor-related protein complex 5, beta 1 subunit							19.0	23.0	22.0					11																	65546685		2025	4173	6198	SO:0001583	missense	91056						protein binding	g.chr11:65546685C>T	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1279G>A	11.37:g.65546685C>T	ENSP00000454303:p.Glu427Lys						p.E427K	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1489	-			370					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.1279G>A	CCDS58146.1																																																																																				0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		7	28	0	0	0	1	0	7	28				
VARS2	57176	broad.mit.edu	37	6	30885522	30885522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr6:30885522delC	ENST00000321897.5	+	9	1556	c.924delC	c.(922-924)tgcfs	p.C308fs	VARS2_ENST00000541562.1_Frame_Shift_Del_p.C338fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.C168fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.C308fs			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	308					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGCCTGGCTGCCCCACCCCCG	0.612																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(922-924)tgfs		valyl-tRNA synthetase 2, mitochondrial							99.0	82.0	88.0					6																	30885522		2192	4293	6485	SO:0001589	frameshift_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30885522delC	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.924delC	6.37:g.30885522delC	ENSP00000316092:p.Cys308fs					VARS2_ENST00000541562.1_Frame_Shift_Del_p.C338fs|VARS2_ENST00000416670.2_Frame_Shift_Del_p.C308fs|VARS2_ENST00000542001.1_Frame_Shift_Del_p.C168fs	p.C308fs			Q5ST30	SYVM_HUMAN			9	1556	+			308					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Frame_Shift_Del	DEL	ENST00000321897.5	37	c.924delC	CCDS34387.1																																																																																				0.612	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		2	4						2	4	---	---	---	---
MROH6	642475	broad.mit.edu	37	8	144650732	144650733	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr8:144650732_144650733insCC	ENST00000398882.3	-	10	1889_1890	c.1633_1634insGG	c.(1633-1635)gacfs	p.D545fs	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	545																	CTCAGCAGCGTCCCTGCTGGGG	0.698																																						ENST00000398882.3																			0											c.(1633-1635)cgcfs		maestro heat-like repeat family member 6																																				SO:0001589	frameshift_variant	642475							g.chr8:144650732_144650733insCC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1632_1633dupGG	8.37:g.144650733_144650734dupCC	ENSP00000381857:p.Asp545fs					MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	p.R545fs	NM_001100878.1	NP_001094348.1					10	1889_1890	-								A8MWB1	Frame_Shift_Ins	INS	ENST00000398882.3	37	c.1633_1634insGG	CCDS47928.1																																																																																				0.698	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		2	4						2	4	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	75						7	75	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs542749146|rs374461730|rs57620493		TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388																																						ENST00000548261.1																			0																																																			0							g.chr14:20138376delG																													14.37:g.20138376delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	4						4	4	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102931589	102931591	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-J8-A4HY-01A-11D-A257-08	TCGA-J8-A4HY-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bca1d60-fb12-4191-aa19-883e5bd99996	b4f5c022-fbdd-4a29-b01b-0141efcf8dba	g.chr14:102931589_102931591delTGC	ENST00000359520.7	+	17	3978_3980	c.3752_3754delTGC	c.(3751-3756)atgctt>att	p.1251_1252ML>I	TECPR2_ENST00000558678.1_In_Frame_Del_p.1251_1252ML>I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1251					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCCAGTCTCATGCTTCCAGCCTG	0.502																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(3751-3756)att>a		tectonin beta-propeller repeat containing 2																																				SO:0001651	inframe_deletion	9895						protein binding	g.chr14:102931589_102931591delTGC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3752_3754delTGC	14.37:g.102931589_102931591delTGC	ENSP00000352510:p.Met1251_Leu1252delinsIle					TECPR2_ENST00000558678.1_In_Frame_Del_p.ML1251del	p.ML1251del	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			17	3978_3980	+			1251					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	In_Frame_Del	DEL	ENST00000359520.7	37	c.3752_3754delTGC	CCDS32162.1																																																																																				0.502	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		10	54						10	54	---	---	---	---
