#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
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	58	0	0	0	1	0	5	58				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	102	0	0	0	1	0	7	102				
NEO1	4756	broad.mit.edu	37	15	73590704	73590704	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr15:73590704C>A	ENST00000339362.5	+	28	4364	c.3917C>A	c.(3916-3918)aCc>aAc	p.T1306N	NEO1_ENST00000560262.1_Missense_Mutation_p.T1253N|NEO1_ENST00000261908.6_Missense_Mutation_p.T1306N|NEO1_ENST00000558964.1_Missense_Mutation_p.T1295N			Q92859	NEO1_HUMAN	neogenin 1	1306					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTTCGAAATACCCCCAGCACT	0.493																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3916-3918)aCc>aAc		neogenin 1							77.0	71.0	73.0					15																	73590704		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73590704C>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3917C>A	15.37:g.73590704C>A	ENSP00000341198:p.Thr1306Asn					NEO1_ENST00000560262.1_Missense_Mutation_p.T1253N|NEO1_ENST00000558964.1_Missense_Mutation_p.T1295N|NEO1_ENST00000261908.6_Missense_Mutation_p.T1306N	p.T1306N			Q92859	NEO1_HUMAN			28	4364	+			1306					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3917C>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325349	0.81580	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.52295	0.67	5.22	5.22	0.72569	Neogenin, C-terminal (1);	0.046090	0.85682	D	0.000000	T	0.55561	0.1928	L	0.57536	1.79	0.80722	D	1	P;B;P;P	0.44521	0.837;0.02;0.605;0.605	P;B;P;P	0.50708	0.576;0.063;0.648;0.568	T	0.47935	-0.9078	10	0.15066	T	0.55	-14.7339	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1253;1295;1017;1306	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	N	1253;1017;1306	ENSP00000261908:T1306N	ENSP00000261908:T1306N	T	+	2	0	NEO1	71377757	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.270000	0.78493	2.443000	0.82685	0.655000	0.94253	ACC		0.493	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	52	1	0	0.000602214	1	0.000677491	4	52				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	23	0	0	0	1	0	3	23				
PLXNB1	5364	broad.mit.edu	37	3	48463187	48463187	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:48463187C>A	ENST00000358536.4	-	7	1818	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	517					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCCCTGGCCCCTCGAGCAC	0.612																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1549-1551)Ggc>Tgc		plexin B1							49.0	49.0	49.0					3																	48463187		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463187C>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1549G>T	3.37:g.48463187C>A	ENSP00000351338:p.Gly517Cys					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C	p.G517C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1818	-			517					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1549G>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493936	0.84962	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.62	3.84	0.44239	.	0.485971	0.22272	N	0.062253	T	0.34832	0.0911	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.98;0.999	P;D	0.71414	0.88;0.973	T	0.02860	-1.1101	10	0.62326	D	0.03	.	10.9572	0.47364	0.0:0.8506:0.0:0.1494	.	517;517	O43157;O43157-2	PLXB1_HUMAN;.	C	517	ENSP00000296440:G517C;ENSP00000351242:G517C;ENSP00000351338:G517C;ENSP00000414199:G517C	ENSP00000296440:G517C	G	-	1	0	PLXNB1	48438191	0.947000	0.32204	0.993000	0.49108	0.950000	0.60333	2.489000	0.45285	0.747000	0.32809	0.655000	0.94253	GGC		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	28	1	0	0.00024832	1	0.000297984	3	28				
RAB38	23682	broad.mit.edu	37	11	87847227	87847227	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr11:87847227C>T	ENST00000243662.6	-	3	647	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	189					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACGTCCGGCTCAATAGACTCC	0.463																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(565-567)Gag>Aag		RAB38, member RAS oncogene family							156.0	147.0	150.0					11																	87847227		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847227C>T	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.565G>A	11.37:g.87847227C>T	ENSP00000243662:p.Glu189Lys					RP11-164N3.3_ENST00000528458.1_RNA	p.E189K	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			3	647	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	189					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.565G>A	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523283	0.44866	.	.	ENSG00000123892	ENST00000243662	T	0.79454	-1.27	5.47	4.55	0.56014	.	0.120176	0.56097	D	0.000026	T	0.63570	0.2522	N	0.19112	0.55	0.38868	D	0.956638	B	0.25850	0.136	B	0.24006	0.05	T	0.60321	-0.7286	9	.	.	.	-0.3678	14.3992	0.67031	0.0:0.8411:0.1589:0.0	.	189	P57729	RAB38_HUMAN	K	189	ENSP00000243662:E189K	.	E	-	1	0	RAB38	87486875	0.993000	0.37304	0.528000	0.27938	0.755000	0.42902	3.123000	0.50453	1.414000	0.47017	0.650000	0.86243	GAG		0.463	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			12	104	0	0	0	1	0	12	104				
PCDHB1	29930	broad.mit.edu	37	5	140432292	140432292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr5:140432292G>T	ENST00000306549.3	+	1	1314	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGATCGGGAGGAGGTCTC	0.458																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1237-1239)Gag>Tag									102.0	100.0	101.0					5																	140432292		2203	4300	6503	SO:0001587	stop_gained	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432292G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1237G>T	5.37:g.140432292G>T	ENSP00000307234:p.Glu413*						p.E413*	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1314	+			413			Cadherin 4.		Q2M257	Nonsense_Mutation	SNP	ENST00000306549.3	37	c.1237G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888550	0.97068	.	.	ENSG00000171815	ENST00000306549	.	.	.	6.03	6.03	0.97812	.	0.000000	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.177	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000307234:E413X	E	+	1	0	PCDHB1	140412476	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	9.768000	0.98965	2.854000	0.98071	0.655000	0.94253	GAG		0.458	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		29	104	1	0	8.88839e-20	1	1.2307e-19	29	104				
SND1	27044	broad.mit.edu	37	7	127343360	127343360	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr7:127343360G>T	ENST00000354725.3	+	7	1017	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	275	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAACATTCTGGGTACCATCCT	0.488																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(823-825)Ggt>Tgt		staphylococcal nuclease and tudor domain containing 1							73.0	66.0	69.0					7																	127343360		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127343360G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.823G>T	7.37:g.127343360G>T	ENSP00000346762:p.Gly275Cys						p.G275C	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			7	1017	+			275			TNase-like 2.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.823G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065047	0.93898	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34667	1.35	6.07	6.07	0.98685	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.045277	0.85682	D	0.000000	T	0.67933	0.2946	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71341	-0.4622	10	0.59425	D	0.04	-14.8565	18.1531	0.89682	0.0:0.0:1.0:0.0	.	275	Q7KZF4	SND1_HUMAN	C	275;265	ENSP00000346762:G275C	ENSP00000346762:G275C	G	+	1	0	SND1	127130596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.523000	0.98034	2.885000	0.99019	0.655000	0.94253	GGT		0.488	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		7	35	1	0	0.000274275	1	0.000318513	7	35				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	28	0	0	0	1	0	4	28				
GPR125	166647	broad.mit.edu	37	4	22415404	22415404	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr4:22415404G>C	ENST00000334304.5	-	13	2112	c.1843C>G	c.(1843-1845)Cct>Gct	p.P615A	GPR125_ENST00000282943.5_Intron	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	615					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAAAGGGAAGGAGGAAGCTGA	0.348																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1843-1845)Cct>Gct		G protein-coupled receptor 125							61.0	62.0	62.0					4																	22415404		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22415404G>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1843C>G	4.37:g.22415404G>C	ENSP00000334952:p.Pro615Ala					GPR125_ENST00000282943.5_Intron	p.P615A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			13	2112	-		Breast(46;0.198)	615					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1843C>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786273	0.31593	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.82	3.1	0.35709	.	0.441295	0.27482	N	0.019166	T	0.26774	0.0655	N	0.20483	0.58	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05305	-1.0893	10	0.17369	T	0.5	-35.6758	6.2048	0.20595	0.2166:0.268:0.5153:0.0	.	615	Q8IWK6	GP125_HUMAN	A	615	ENSP00000334952:P615A	ENSP00000334952:P615A	P	-	1	0	GPR125	22024502	0.930000	0.31532	0.490000	0.27465	0.996000	0.88848	1.485000	0.35519	0.343000	0.23821	0.650000	0.86243	CCT		0.348	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			11	41	0	0	0	1	0	11	41				
NBPF9	400818	broad.mit.edu	37	1	144821954	144821954	+	Silent	SNP	C	C	G			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:144821954C>G	ENST00000440491.2	+	7	897	c.897C>G	c.(895-897)ccC>ccG	p.P299P	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.P299P	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	557						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						AGGAAGTCCCCCAGGAGTCCT	0.478																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(895-897)ccC>ccG		neuroblastoma breakpoint family, member 9																																				SO:0001819	synonymous_variant	400818							g.chr1:144821954C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.897C>G	1.37:g.144821954C>G						NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Silent_p.P299P|NBPF9_ENST00000468645.1_3'UTR	p.P299P	NM_001037675.2	NP_001032764.1					7	897	+									Silent	SNP	ENST00000440491.2	37	c.897C>G		.	.	.	.	.	.	.	.	.	.	.	2.008	-0.427797	0.04701	.	.	ENSG00000168614	ENST00000375552	T	0.10005	2.92	0.714	-0.496	0.12027	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.47824	-0.9087	5	0.22706	T	0.39	.	.	.	.	.	.	.	.	R	298	ENSP00000364702:P298R	ENSP00000364702:P298R	P	+	2	0	NBPF9	143533311	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.766000	0.04725	-0.175000	0.10725	0.186000	0.17326	CCC		0.478	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		19	134	0	0	0	1	0	19	134				
PAQR9	344838	broad.mit.edu	37	3	142681313	142681313	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:142681313A>C	ENST00000340634.3	-	1	865	c.866T>G	c.(865-867)tTc>tGc	p.F289C	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	289						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGTTGAAGAAGGCGGCCAC	0.587																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(865-867)tTc>tGc		progestin and adipoQ receptor family member IX							58.0	60.0	59.0					3																	142681313		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681313A>C	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.866T>G	3.37:g.142681313A>C	ENSP00000341564:p.Phe289Cys						p.F289C	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	865	-			289					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.866T>G	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119695	0.77323	.	.	ENSG00000188582	ENST00000340634	T	0.31510	1.49	5.63	5.63	0.86233	.	0.152878	0.46145	D	0.000320	T	0.57460	0.2055	M	0.77103	2.36	0.45946	D	0.998776	D	0.89917	1.0	D	0.77557	0.99	T	0.60860	-0.7179	10	0.54805	T	0.06	-27.1099	15.87	0.79108	1.0:0.0:0.0:0.0	.	289	Q6ZVX9	PAQR9_HUMAN	C	289	ENSP00000341564:F289C	ENSP00000341564:F289C	F	-	2	0	PAQR9	144164003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.424000	0.80242	2.145000	0.66743	0.533000	0.62120	TTC		0.587	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		7	45	0	0	0	1	0	7	45				
SPTBN4	57731	broad.mit.edu	37	19	41078060	41078060	+	Silent	SNP	T	T	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:41078060T>C	ENST00000352632.3	+	34	7541	c.7455T>C	c.(7453-7455)gcT>gcC	p.A2485A	SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Silent_p.A2485A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2485	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGAGGTGGCTAGTGACTACA	0.607																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7453-7455)gcT>gcC		spectrin, beta, non-erythrocytic 4							77.0	82.0	80.0					19																	41078060		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41078060T>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7455T>C	19.37:g.41078060T>C						SPTBN4_ENST00000598249.1_Silent_p.A2485A|SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000593816.1_3'UTR	p.A2485A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7541	+			2485			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.7455T>C	CCDS12559.1																																																																																				0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	121	0	0	0	1	0	6	121				
EPHA8	2046	broad.mit.edu	37	1	22927492	22927492	+	Silent	SNP	G	G	T	rs150399375	byFrequency	TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:22927492G>T	ENST00000166244.3	+	15	2712	c.2640G>T	c.(2638-2640)gcG>gcT	p.A880A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	880	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGACCGGGCGCAGCGGCCTC	0.662																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2638-2640)gcG>gcT		EPH receptor A8		G		0,4406		0,0,2203	64.0	61.0	62.0		2640	-0.1	1.0	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA8	NM_020526.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		880/1006	22927492	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927492G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2640G>T	1.37:g.22927492G>T							p.A880A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2712	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	880			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2640G>T	CCDS225.1																																																																																				0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	46	1	0	6.4e-05	1	8.22857e-05	3	46				
NCDN	23154	broad.mit.edu	37	1	36026232	36026232	+	Silent	SNP	G	G	T	rs139104373		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:36026232G>T	ENST00000373243.2	+	3	863	c.480G>T	c.(478-480)acG>acT	p.T160T	NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.T143T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	160					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGCCTGACGGCTGTAGCAG	0.617																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(478-480)acG>acT		neurochondrin							73.0	75.0	74.0					1																	36026232		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026232G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.480G>T	1.37:g.36026232G>T						NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.T143T	p.T160T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	863	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	160					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.480G>T	CCDS392.1																																																																																				0.617	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		4	78	1	0	0.150653	1	0.150653	4	78				
FAM135B	51059	broad.mit.edu	37	8	139144959	139144959	+	Silent	SNP	C	C	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr8:139144959C>A	ENST00000395297.1	-	20	4268	c.4098G>T	c.(4096-4098)gtG>gtT	p.V1366V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1366										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCGTGGAACACGTTGTGTC	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4096-4098)gtG>gtT		family with sequence similarity 135, member B							250.0	258.0	256.0					8																	139144959		1986	4167	6153	SO:0001819	synonymous_variant	51059							g.chr8:139144959C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4098G>T	8.37:g.139144959C>A		HNSCC(54;0.14)					p.V1366V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4268	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1366					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.4098G>T	CCDS6375.2																																																																																				0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	275	1	0	1.61879e-10	1	2.15839e-10	9	275				
ACAD10	80724	broad.mit.edu	37	12	112153743	112153743	+	Silent	SNP	C	C	T	rs112990162	byFrequency	TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr12:112153743C>T	ENST00000313698.4	+	7	1124	c.969C>T	c.(967-969)gcC>gcT	p.A323A	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Silent_p.A354A	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	323						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCATCTGCCCATGCCATAG	0.517																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1060-1062)gcC>gcT		acyl-CoA dehydrogenase family, member 10							154.0	156.0	155.0					12																	112153743		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112153743C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.969C>T	12.37:g.112153743C>T						ACAD10_ENST00000313698.4_Silent_p.A323A|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR	p.A354A	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			8	1239	+			323					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.1062C>T	CCDS31903.1																																																																																				0.517	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		6	132	0	0	0	1	0	6	132				
MUC16	94025	broad.mit.edu	37	19	9061807	9061807	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:9061807C>G	ENST00000397910.4	-	3	25842	c.25639G>C	c.(25639-25641)Gtg>Ctg	p.V8547L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8549	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCATGGCACATCTCCAGGA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25639-25641)Gtg>Ctg		mucin 16, cell surface associated							65.0	65.0	65.0					19																	9061807		1973	4150	6123	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061807C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25639G>C	19.37:g.9061807C>G	ENSP00000381008:p.Val8547Leu						p.V8547L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25842	-			8549			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25639G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.986	0.552046	0.13374	.	.	ENSG00000181143	ENST00000397910	T	0.19250	2.16	3.05	-2.52	0.06346	.	.	.	.	.	T	0.11580	0.0282	N	0.19112	0.55	.	.	.	B	0.24576	0.106	B	0.26517	0.07	T	0.30446	-0.9978	8	0.87932	D	0	.	4.6467	0.12575	0.0:0.316:0.4281:0.2558	.	8547	B5ME49	.	L	8547	ENSP00000381008:V8547L	ENSP00000381008:V8547L	V	-	1	0	MUC16	8922807	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	-0.337000	0.08426	0.450000	0.29827	GTG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	29	0	0	0	1	0	7	29				
ARC	23237	broad.mit.edu	37	8	143694682	143694682	+	Silent	SNP	G	G	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr8:143694682G>A	ENST00000356613.2	-	1	2151	c.951C>T	c.(949-951)gaC>gaT	p.D317D	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCCTCCTCGTCCGCGTCCA	0.657																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(949-951)gaC>gaT		activity-regulated cytoskeleton-associated protein							64.0	63.0	63.0					8																	143694682		2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694682G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.951C>T	8.37:g.143694682G>A							p.D317D	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2151	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	317					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.951C>T	CCDS34950.1																																																																																				0.657	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			3	31	0	0	0	1	0	3	31				
FOXD1	2297	broad.mit.edu	37	5	72743456	72743456	+	Silent	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr5:72743456G>T	ENST00000499003.3	-	1	896	c.732C>A	c.(730-732)gcC>gcA	p.A244A	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	244					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgccccctgcggctcccgcgc	0.796																																						ENST00000499003.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(730-732)gcC>gcA		forkhead box D1							2.0	3.0	3.0					5																	72743456		1063	2498	3561	SO:0001819	synonymous_variant	2297				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr5:72743456G>T	U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.732C>A	5.37:g.72743456G>T							p.A244A	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)	1	896	-		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)	244					Q12949	Silent	SNP	ENST00000499003.3	37	c.732C>A																																																																																					0.796	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		2	1	1	0	0.0016	1	0.00174545	2	1				
HCFC1	3054	broad.mit.edu	37	X	153216820	153216820	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:153216820T>C	ENST00000310441.7	-	22	6464	c.5498A>G	c.(5497-5499)gAt>gGt	p.D1833G	HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G|HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1833	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCATCATCTGGTGGCAG	0.542																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5497-5499)gAt>gGt		host cell factor C1 (VP16-accessory protein)							221.0	224.0	223.0					X																	153216820		2114	4213	6327	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216820T>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5498A>G	X.37:g.153216820T>C	ENSP00000309555:p.Asp1833Gly					HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G|HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G	p.D1833G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			22	6464	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1833					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5498A>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032183	0.75504	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.53423	0.62;0.62;0.62	5.66	5.66	0.87406	Fibronectin, type III (1);	0.044852	0.85682	D	0.000000	T	0.51584	0.1683	M	0.69823	2.125	0.49389	D	0.999788	B	0.32968	0.392	B	0.36289	0.221	T	0.55952	-0.8059	10	0.66056	D	0.02	.	13.8755	0.63651	0.0:0.0:0.0:1.0	.	1833	P51610	HCFC1_HUMAN	G	1833;1878;1764	ENSP00000309555:D1833G;ENSP00000359001:D1878G;ENSP00000346174:D1764G	ENSP00000309555:D1833G	D	-	2	0	HCFC1	152870014	1.000000	0.71417	0.868000	0.34077	0.968000	0.65278	3.890000	0.56220	1.921000	0.55644	0.427000	0.28365	GAT		0.542	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	128	0	0	0	1	0	5	128				
LYST	1130	broad.mit.edu	37	1	235973754	235973754	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:235973754A>T	ENST00000389794.3	-	5	538	c.364T>A	c.(364-366)Tta>Ata	p.L122I	LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	122					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAAATGTAATTTTTCCTGA	0.368																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(364-366)Tta>Ata		lysosomal trafficking regulator							64.0	67.0	66.0					1																	235973754		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973754A>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.364T>A	1.37:g.235973754A>T	ENSP00000374444:p.Leu122Ile					LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I	p.L122I			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	538	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	122					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.364T>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	7.564	0.665242	0.14710	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14144	2.53;2.53;2.53	5.8	0.71	0.18157	.	0.820902	0.11112	N	0.598400	T	0.09555	0.0235	L	0.44542	1.39	0.09310	N	1	P;B	0.43352	0.804;0.083	B;B	0.39706	0.307;0.02	T	0.21827	-1.0234	10	0.35671	T	0.21	.	0.9485	0.01371	0.4393:0.2214:0.1366:0.2027	.	122;122	Q99698-3;Q99698	.;LYST_HUMAN	I	122	ENSP00000374444:L122I;ENSP00000374443:L122I;ENSP00000438315:L122I	ENSP00000374443:L122I	L	-	1	2	LYST	234040377	0.030000	0.19436	0.998000	0.56505	0.983000	0.72400	0.618000	0.24373	0.466000	0.27193	0.460000	0.39030	TTA		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			28	61	0	0	0	1	0	28	61				
SSX5	6758	broad.mit.edu	37	X	48054447	48054447	+	Intron	SNP	G	G	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:48054447G>A	ENST00000376923.1	-	2	69				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000311798.1_Missense_Mutation_p.A63V			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACCTACCCTAGCTTCTCCCCT	0.537																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(187-189)gCt>gTt		synovial sarcoma, X breakpoint 5							61.0	53.0	55.0					X																	48054447		2203	4299	6502	SO:0001627	intron_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054447G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.70-157C>T	X.37:g.48054447G>A						SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	p.A63V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			3	240	-			23			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.188C>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.54	1.968378	0.34754	.	.	ENSG00000165583	ENST00000311798	T	0.00784	5.7	1.51	-0.735	0.11137	.	.	.	.	.	T	0.01870	0.0059	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49103	-0.8974	8	0.33141	T	0.24	.	2.809	0.05435	0.2328:0.3441:0.4231:0.0	.	63	O60225-2	.	V	63	ENSP00000312415:A63V	ENSP00000312415:A63V	A	-	2	0	SSX5	47939391	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.431000	0.21444	-0.319000	0.08652	0.171000	0.16805	GCT		0.537	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		6	15	0	0	0	1	0	6	15				
OLFML2B	25903	broad.mit.edu	37	1	161954024	161954024	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:161954024C>T	ENST00000294794.3	-	8	2117	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	OLFML2B_ENST00000367938.1_Missense_Mutation_p.G48D|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G566D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	565	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGCCTGTGCCGATCCAGCT	0.592																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1693-1695)gGc>gAc		olfactomedin-like 2B							95.0	83.0	87.0					1																	161954024		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954024C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1694G>A	1.37:g.161954024C>T	ENSP00000294794:p.Gly565Asp					OLFML2B_ENST00000367940.2_Missense_Mutation_p.G566D|OLFML2B_ENST00000367938.1_Missense_Mutation_p.G48D	p.G565D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2117	-	all_hematologic(112;0.156)		565			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1694G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586271	0.86851	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.95035	-3.59;-3.59;-3.59	5.17	5.17	0.71159	Olfactomedin-like (3);	.	.	.	.	D	0.98021	0.9348	H	0.95712	3.71	0.47123	D	0.999320	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99267	1.0892	8	0.87932	D	0	.	16.1511	0.81624	0.0:1.0:0.0:0.0	.	566;565	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	565;566;48	ENSP00000294794:G565D;ENSP00000356917:G566D;ENSP00000356915:G48D	ENSP00000294794:G565D	G	-	2	0	OLFML2B	160220648	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.677000	0.84024	2.400000	0.81607	0.561000	0.74099	GGC		0.592	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		3	51	0	0	0	1	0	3	51				
FBL	2091	broad.mit.edu	37	19	40331091	40331091	+	Silent	SNP	C	C	T	rs141906890		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:40331091C>T	ENST00000221801.3	-	3	359	c.246G>A	c.(244-246)tcG>tcA	p.S82S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	82					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATTCTTCCCCGACTGGTTTC	0.597																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(244-246)tcG>tcA		fibrillarin		C		2,4404	4.2+/-10.8	0,2,2201	292.0	252.0	266.0		246	-10.0	0.9	19	dbSNP_134	266	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBL	NM_001436.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		82/322	40331091	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331091C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.246G>A	19.37:g.40331091C>T							p.S82S	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	359	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	82					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.246G>A	CCDS12545.1																																																																																				0.597	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		7	211	0	0	0	1	0	7	211				
FIG4	9896	broad.mit.edu	37	6	110086256	110086256	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr6:110086256G>A	ENST00000230124.3	+	14	1599	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	FIG4_ENST00000441478.2_Missense_Mutation_p.R215H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	492	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGTTTAGATCGCACCAACACA	0.403																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1474-1476)cGc>cAc		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							161.0	146.0	151.0					6																	110086256		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110086256G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1475G>A	6.37:g.110086256G>A	ENSP00000230124:p.Arg492His					FIG4_ENST00000441478.2_Missense_Mutation_p.R215H	p.R492H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	14	1599	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	492			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1475G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251635	0.95305	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;D	0.83163	-0.66;-1.69	5.2	5.2	0.72013	Synaptojanin, N-terminal (1);	0.060695	0.64402	D	0.000002	D	0.94016	0.8083	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.911;0.998	D	0.95955	0.8957	10	0.87932	D	0	-12.8121	16.9196	0.86160	0.0:0.0:1.0:0.0	.	215;492	F5H8L9;Q92562	.;FIG4_HUMAN	H	215;492	ENSP00000399443:R215H;ENSP00000230124:R492H	ENSP00000230124:R492H	R	+	2	0	FIG4	110192949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.416000	0.81992	0.557000	0.71058	CGC		0.403	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		4	62	0	0	0	1	0	4	62				
COL11A1	1301	broad.mit.edu	37	1	103400616	103400616	+	Splice_Site	SNP	A	A	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:103400616A>T	ENST00000370096.3	-	45	3804	c.3492T>A	c.(3490-3492)gcT>gcA	p.A1164A	COL11A1_ENST00000512756.1_Splice_Site_p.A1048A|COL11A1_ENST00000358392.2_Splice_Site_p.A1176A|COL11A1_ENST00000353414.4_Splice_Site_p.A1125A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1164	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAATACTCACAGCAATTCCAG	0.428																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e45+1		collagen, type XI, alpha 1							38.0	40.0	39.0					1																	103400616		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400616A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3492+1T>A	1.37:g.103400616A>T						COL11A1_ENST00000353414.4_Splice_Site_p.A1125_splice|COL11A1_ENST00000512756.1_Splice_Site_p.A1048_splice|COL11A1_ENST00000370096.3_Splice_Site_p.A1164_splice	p.A1176_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3845	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1164			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3528_splice	CCDS778.1																																																																																				0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent	3	31	0	0	0	1	0	3	31				
SIM2	6493	broad.mit.edu	37	21	38098585	38098585	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr21:38098585A>G	ENST00000290399.6	+	6	1322	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	237	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTTCAGGGCCAGCCTTGACCT	0.582																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(709-711)Agc>Ggc		single-minded family bHLH transcription factor 2							86.0	62.0	71.0					21																	38098585		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38098585A>G		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.709A>G	21.37:g.38098585A>G	ENSP00000290399:p.Ser237Gly					SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	p.S237G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			6	1322	+			237			PAS 2.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.709A>G	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.200838|4.200838	0.79015|0.79015	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.79554	.|-1.28;-1.28	5.44|5.44	5.44|5.44	0.79542|0.79542	.|PAS (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90287|0.90287	0.6962|0.6962	M|M	0.87328|0.87328	2.875|2.875	0.46376|0.46376	D|D	0.99901|0.99901	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.65684	.|0.936;0.937	D|D	0.92076|0.92076	0.5668|0.5668	5|10	.|0.87932	.|D	.|0	.|.	15.804|15.804	0.78477|0.78477	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|237;237	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	R|G	174|237	.|ENSP00000290399:S237G;ENSP00000404176:S237G	.|ENSP00000290399:S237G	Q|S	+|+	2|1	0|0	SIM2|SIM2	37020455|37020455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.732000|8.732000	0.91534|0.91534	2.193000|2.193000	0.70182|0.70182	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.582	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		4	25	0	0	0	1	0	4	25				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	19	0	0	0	1	0	3	19				
MAGI2	9863	broad.mit.edu	37	7	79082567	79082567	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr7:79082567G>T	ENST00000354212.4	-	1	323	c.70C>A	c.(70-72)Ccg>Acg	p.P24T	MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P24T|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.P24T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	24	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCCCTCCGGGTTCCTGCCA	0.592																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(70-72)Ccg>Acg		membrane associated guanylate kinase, WW and PDZ domain containing 2							71.0	86.0	81.0					7																	79082567		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082567G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.70C>A	7.37:g.79082567G>T	ENSP00000346151:p.Pro24Thr					MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P24T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P24T|MAGI2-AS3_ENST00000429408.1_RNA	p.P24T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	323	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	24			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.70C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894227	0.52121	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.25912	1.77;1.77;1.77	5.17	5.17	0.71159	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.20861	0.0502	N	0.22421	0.69	0.80722	D	1	B;B	0.30824	0.296;0.077	B;B	0.28139	0.048;0.086	T	0.05920	-1.0856	9	0.66056	D	0.02	.	17.6371	0.88125	0.0:0.0:1.0:0.0	.	24;24	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	24	ENSP00000405766:P24T;ENSP00000346151:P24T;ENSP00000428389:P24T	ENSP00000346151:P24T	P	-	1	0	MAGI2	78920503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.963000	0.56773	2.400000	0.81607	0.491000	0.48974	CCG		0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	122	1	0	0.00024832	1	0.000297984	4	122				
AGAP11	119385	broad.mit.edu	37	10	88767396	88767399	+	RNA	DEL	CTTT	CTTT	-			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr10:88767396_88767399delCTTT	ENST00000444431.1	+	0	2659				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AAGTAATGCGCTTTCTTATTTTTT	0.319																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767396_88767399delCTTT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767396_88767399delCTTT						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2659	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.319	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		15	74						15	74	---	---	---	---
