#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
USP40	55230	broad.mit.edu	37	2	234408535	234408535	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:234408535A>G	ENST00000427112.2	-	21	2672	c.2637T>C	c.(2635-2637)tcT>tcC	p.S879S	USP40_ENST00000251722.6_Silent_p.S879S|USP40_ENST00000450966.1_Silent_p.S891S|USP40_ENST00000409945.1_Silent_p.S55S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	879					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTGTAGGCCAGATTTCTTCA	0.308																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(2635-2637)tcT>tcC		ubiquitin specific peptidase 40							50.0	49.0	49.0					2																	234408535		1804	4072	5876	SO:0001819	synonymous_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234408535A>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2637T>C	2.37:g.234408535A>G						USP40_ENST00000427112.2_Silent_p.S879S|USP40_ENST00000409945.1_Silent_p.S55S|USP40_ENST00000450966.1_Silent_p.S891S	p.S879S			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	22	2754	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	879					Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	c.2637T>C	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	9.017	0.983820	0.18889	.	.	ENSG00000085982	ENST00000430158	.	.	.	5.16	2.71	0.32032	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42447	-0.9451	4	.	.	.	.	4.917	0.13851	0.7424:0.0:0.0891:0.1686	.	.	.	.	P	55	.	.	L	-	2	0	USP40	234073274	0.997000	0.39634	0.934000	0.37439	0.942000	0.58702	0.765000	0.26546	0.344000	0.23847	0.533000	0.62120	CTG		0.308	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		11	17	0	0	0	1	0	11	17				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	86	1	0	1.23904e-05	1	1.29712e-05	4	86				
TACC2	10579	broad.mit.edu	37	10	123976221	123976221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:123976221C>T	ENST00000369005.1	+	11	7764	c.7424C>T	c.(7423-7425)gCg>gTg	p.A2475V	TACC2_ENST00000515603.1_Missense_Mutation_p.A2430V|TACC2_ENST00000369001.1_Missense_Mutation_p.A179V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2479V|TACC2_ENST00000369004.3_Missense_Mutation_p.A565V|TACC2_ENST00000368999.1_Missense_Mutation_p.A565V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2479V|TACC2_ENST00000513429.1_Missense_Mutation_p.A621V|TACC2_ENST00000360561.3_Missense_Mutation_p.A553V|TACC2_ENST00000260733.3_Missense_Mutation_p.A553V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2475V|TACC2_ENST00000358010.1_Missense_Mutation_p.A621V|TACC2_ENST00000369000.1_Missense_Mutation_p.A175V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2475					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAAAGCTGGCGGTCACCAAC	0.567																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7423-7425)gCg>gTg		transforming, acidic coiled-coil containing protein 2							152.0	133.0	139.0					10																	123976221		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976221C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7424C>T	10.37:g.123976221C>T	ENSP00000358001:p.Ala2475Val					TACC2_ENST00000515273.1_Missense_Mutation_p.A2479V|TACC2_ENST00000360561.3_Missense_Mutation_p.A553V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2430V|TACC2_ENST00000369004.3_Missense_Mutation_p.A565V|TACC2_ENST00000260733.3_Missense_Mutation_p.A553V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2479V|TACC2_ENST00000369000.1_Missense_Mutation_p.A175V|TACC2_ENST00000369001.1_Missense_Mutation_p.A179V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2475V|TACC2_ENST00000358010.1_Missense_Mutation_p.A621V|TACC2_ENST00000513429.1_Missense_Mutation_p.A621V|TACC2_ENST00000368999.1_Missense_Mutation_p.A565V	p.A2475V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			11	7764	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2475					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7424C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423916	0.96111	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	2.92;2.7;3.13;3.08;2.92;2.7;3.13;1.23;1.22;2.54;2.63;2.58;2.56;2.17;1.56	5.64	5.64	0.86602	.	0.000000	0.34986	N	0.003521	T	0.62527	0.2435	M	0.73598	2.24	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.994;0.998;0.997;0.999;0.999;0.999;0.999;0.999	T	0.58934	-0.7548	10	0.37606	T	0.19	-19.8574	19.7186	0.96134	0.0:1.0:0.0:0.0	.	570;2479;565;2430;2479;553;553;175;621;2475	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2475;621;2479;2430;2475;621;2479;2465;179;175;553;565;565;553;570;210;55	ENSP00000358001:A2475V;ENSP00000425062:A621V;ENSP00000424467:A2479V;ENSP00000427618:A2430V;ENSP00000334280:A2475V;ENSP00000350701:A621V;ENSP00000395048:A2479V;ENSP00000357997:A179V;ENSP00000357996:A175V;ENSP00000353763:A553V;ENSP00000357995:A565V;ENSP00000422815:A565V;ENSP00000260733:A553V;ENSP00000420967:A570V;ENSP00000422725:A210V	ENSP00000260733:A553V	A	+	2	0	TACC2	123966211	1.000000	0.71417	0.976000	0.42696	0.839000	0.47603	7.267000	0.78462	2.659000	0.90383	0.655000	0.94253	GCG		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	143	0	0	0	1	0	4	143				
PNO1	56902	broad.mit.edu	37	2	68385203	68385203	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:68385203G>A	ENST00000263657.2	+	1	228	c.137G>A	c.(136-138)cGc>cAc	p.R46H	WDR92_ENST00000409164.1_5'Flank|WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000492039.2_5'Flank|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.R163W	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	46						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GATGCGGGCCGCATGGACACA	0.677																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(136-138)cGc>cAc		partner of NOB1 homolog (S. cerevisiae)							18.0	26.0	23.0					2																	68385203		2202	4297	6499	SO:0001583	missense	56902					nucleolus	RNA binding	g.chr2:68385203G>A	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.137G>A	2.37:g.68385203G>A	ENSP00000263657:p.Arg46His						p.R46H	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			1	228	+			46					A8K6Q0|Q53G13|Q8WVB8	Missense_Mutation	SNP	ENST00000263657.2	37	c.137G>A	CCDS1885.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171546	0.38315	.	.	ENSG00000115946	ENST00000263657	T	0.41400	1.0	6.03	-1.94	0.07571	.	0.478698	0.19273	N	0.118341	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08868	-1.0701	10	0.52906	T	0.07	0.9051	0.011	0.00001	0.289:0.1962:0.2222:0.2926	.	46	Q9NRX1	PNO1_HUMAN	H	46	ENSP00000263657:R46H	ENSP00000263657:R46H	R	+	2	0	PNO1	68238707	0.014000	0.17966	0.015000	0.15790	0.004000	0.04260	0.190000	0.17057	-0.050000	0.13356	-1.832000	0.00591	CGC		0.677	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		3	31	0	0	0	1	0	3	31				
WASH3P	374666	broad.mit.edu	37	15	102516460	102516460	+	RNA	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr15:102516460G>T	ENST00000557932.1	+	0	1408				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGGACGACTGGGAATCCTAGG	0.647																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516460G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516460G>T														0	1408	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	12.88	2.070969	0.36566	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-0.8868	5.193	0.15220	0.0:0.0:1.0:0.0	.	.	.	.	C	461;356	.	.	W	+	3	0	WASH3P	100333983	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	5.962000	0.70364	0.793000	0.33875	0.184000	0.17185	TGG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	50	1	0	0.000157383	1	0.000159768	5	50				
RASSF9	9182	broad.mit.edu	37	12	86199245	86199245	+	Silent	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:86199245A>G	ENST00000361228.3	-	2	911	c.543T>C	c.(541-543)gaT>gaC	p.D181D		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	181					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCATATTATCTCGATCAT	0.373																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(541-543)gaT>gaC		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							167.0	155.0	159.0					12																	86199245		1834	4096	5930	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199245A>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.543T>C	12.37:g.86199245A>G							p.D181D	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	911	-			181					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.543T>C	CCDS44950.1																																																																																				0.373	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			17	104	0	0	0	1	0	17	104				
PKP4	8502	broad.mit.edu	37	2	159537147	159537147	+	Silent	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:159537147T>C	ENST00000389759.3	+	22	3649	c.3537T>C	c.(3535-3537)taT>taC	p.Y1179Y	AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.Y1136Y	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1179					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCTTCTTATAGAGCAGAAC	0.428										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3406-3408)taT>taC		plakophilin 4							99.0	105.0	103.0					2																	159537147		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159537147T>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3537T>C	2.37:g.159537147T>C		HNSCC(62;0.18)				PKP4_ENST00000389759.3_Silent_p.Y1179Y|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	p.Y1136Y	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			21	3533	+			1179					Q86W91	Silent	SNP	ENST00000389759.3	37	c.3408T>C	CCDS33305.1																																																																																				0.428	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			46	79	0	0	0	1	0	46	79				
VPS33A	65082	broad.mit.edu	37	12	122745948	122745948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:122745948G>A	ENST00000267199.4	-	4	455	c.343C>T	c.(343-345)Cca>Tca	p.P115S	VPS33A_ENST00000451053.2_Missense_Mutation_p.P115S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P115S|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	115					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTACGGCGTGGCACAAACAGA	0.468																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(343-345)Cca>Tca		vacuolar protein sorting 33 homolog A (S. cerevisiae)							93.0	80.0	85.0					12																	122745948		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122745948G>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.343C>T	12.37:g.122745948G>A	ENSP00000267199:p.Pro115Ser					VPS33A_ENST00000451053.2_Missense_Mutation_p.P115S|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P115S	p.P115S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	4	455	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		115					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.343C>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147746	0.94603	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.28255	1.62;1.62	5.11	5.11	0.69529	.	0.111159	0.64402	D	0.000006	T	0.60366	0.2263	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.911;0.997	T	0.65459	-0.6163	10	0.72032	D	0.01	-16.5801	18.8821	0.92360	0.0:0.0:1.0:0.0	.	115;115	F5H6Y0;Q96AX1	.;VP33A_HUMAN	S	115	ENSP00000267199:P115S;ENSP00000442951:P115S	ENSP00000446319:P115S	P	-	1	0	VPS33A	121311901	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.724000	0.98775	2.544000	0.85801	0.561000	0.74099	CCA		0.468	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			4	102	0	0	0	1	0	4	102				
ANKRD11	29123	broad.mit.edu	37	16	89357057	89357057	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357057C>T	ENST00000301030.4	-	6	1037	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	193					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGTTGACGTCTGCCCCCTCG	0.652																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(577-579)Gac>Aac		ankyrin repeat domain 11							57.0	58.0	58.0					16																	89357057		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89357057C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.577G>A	16.37:g.89357057C>T	ENSP00000301030:p.Asp193Asn					ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193N	p.D193N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	1037	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	193					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.577G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847732	0.71603	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.37411	1.2;1.2	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	N	0.12611	0.24	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.994	D;D;D	0.79108	0.992;0.99;0.987	T	0.15464	-1.0436	10	0.09084	T	0.74	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	193;207;193	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	N	193;193;207	ENSP00000301030:D193N;ENSP00000367581:D193N	ENSP00000301030:D193N	D	-	1	0	ANKRD11	87884558	1.000000	0.71417	0.165000	0.22776	0.830000	0.47004	7.669000	0.83911	2.714000	0.92807	0.561000	0.74099	GAC		0.652	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		19	111	0	0	0	1	0	19	111				
STAB1	23166	broad.mit.edu	37	3	52539710	52539710	+	Silent	SNP	C	C	T	rs189686234	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:52539710C>T	ENST00000321725.6	+	15	1684	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	536	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCTGGACGGACCTGGGC	0.637													C|||	4	0.000798722	0.0	0.0058	5008	,	,		19263	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1606-1608)gaC>gaT		stabilin 1							70.0	63.0	65.0					3																	52539710		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539710C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1608C>T	3.37:g.52539710C>T							p.D536D	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	15	1684	+			536			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1608C>T	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		19	42	0	0	0	1	0	19	42				
SETD8	387893	broad.mit.edu	37	12	123889487	123889487	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:123889487G>A	ENST00000402868.3	+	7	1140	c.714G>A	c.(712-714)cgG>cgA	p.R238R	SETD8_ENST00000330479.4_Silent_p.R238R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	279					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTTCTCCCGGGGTGACTTTG	0.547																																						ENST00000402868.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13						c.(712-714)cgG>cgA		SET domain containing (lysine methyltransferase) 8							108.0	93.0	98.0					12																	123889487		2203	4300	6503	SO:0001819	synonymous_variant	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123889487G>A	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.714G>A	12.37:g.123889487G>A						SETD8_ENST00000330479.4_Silent_p.R238R	p.R238R			Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	7	1140	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		279					A8K9D0|Q86W83|Q8TD09	Silent	SNP	ENST00000402868.3	37	c.714G>A	CCDS9247.1																																																																																				0.547	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		38	55	0	0	0	1	0	38	55				
FAM220A	84792	broad.mit.edu	37	7	6370325	6370325	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:6370325C>G	ENST00000313324.4	-	2	928	c.461G>C	c.(460-462)cGa>cCa	p.R154P	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	154						nucleus (GO:0005634)											GCGTGGCAGTCGTGACACCCG	0.612																																						ENST00000313324.4																			0											c.(460-462)cGa>cCa		family with sequence similarity 220, member A							44.0	51.0	49.0					7																	6370325		2203	4300	6503	SO:0001583	missense	84792					nucleus		g.chr7:6370325C>G	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.461G>C	7.37:g.6370325C>G	ENSP00000317289:p.Arg154Pro						p.R154P	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	928	-			154					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.461G>C	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769420	0.31320	.	.	ENSG00000178397	ENST00000313324	T	0.08720	3.06	5.42	0.795	0.18643	.	1.166280	0.06504	U	0.736812	T	0.07098	0.0180	L	0.40543	1.245	0.09310	N	1	P	0.39576	0.679	B	0.36186	0.219	T	0.37150	-0.9718	10	0.33141	T	0.24	-2.7767	4.421	0.11481	0.0:0.3721:0.4023:0.2256	.	154	Q7Z4H9	SIPAR_HUMAN	P	154	ENSP00000317289:R154P	ENSP00000317289:R154P	R	-	2	0	C7orf70	6336850	0.000000	0.05858	0.001000	0.08648	0.186000	0.23388	-0.138000	0.10374	0.131000	0.18576	0.655000	0.94253	CGA		0.612	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		26	41	0	0	0	1	0	26	41				
SUFU	51684	broad.mit.edu	37	10	104353823	104353823	+	Splice_Site	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:104353823G>T	ENST00000369902.3	+	6	922		c.e6+1		SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000369899.2_Splice_Site	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)						cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACCTGCAAGTATGTCTTGA	0.502			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.e6+1		suppressor of fused homolog (Drosophila)							137.0	121.0	126.0					10																	104353823		2203	4300	6503	SO:0001630	splice_region_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353823G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.756+1G>T	10.37:g.104353823G>T						SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site|SUFU_ENST00000369899.2_Splice_Site		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	6	922	+		Colorectal(252;0.207)						Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Splice_Site	SNP	ENST00000369902.3	37		CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964555	0.92791	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUFU	104343813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.785000	0.95823	0.655000	0.94253	.		0.502	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	Intron	36	68	1	0	1.836e-18	1	1.98407e-18	36	68				
IGKV3-20	28912	broad.mit.edu	37	2	89442586	89442586	+	RNA	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:89442586T>C	ENST00000492167.1	-	0	57									immunoglobulin kappa variable 3-20																		GCGCTGGGGTTTCCATGGTTC	0.562																																						ENST00000492167.1																			0																				98.0	97.0	97.0					2																	89442586		1855	4080	5935			0							g.chr2:89442586T>C	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442586T>C														0	57	-									RNA	SNP	ENST00000492167.1	37																																																																																						0.562	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		45	91	0	0	0	1	0	45	91				
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537																																						ENST00000368765.3																			1	Substitution - coding silent(1)	p.P92P(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)ccG>ccA		sperm mitochondria-associated cysteine-rich protein							116.0	108.0	110.0					1																	152857174		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857174G>A	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.276G>A	1.37:g.152857174G>A							p.P92P	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	426	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Silent	SNP	ENST00000368765.3	37	c.276G>A	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		5	178	0	0	0	1	0	5	178				
RHBDD1	84236	broad.mit.edu	37	2	227729609	227729609	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:227729609G>A	ENST00000341329.3	+	2	442	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R67H	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	67					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGGCAGCGTTTACTGCTC	0.453																																						ENST00000392062.2																			0				breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(199-201)cGt>cAt		rhomboid domain containing 1							167.0	152.0	157.0					2																	227729609		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729609G>A	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.200G>A	2.37:g.227729609G>A	ENSP00000344779:p.Arg67His					RHBDD1_ENST00000341329.3_Missense_Mutation_p.R67H	p.R67H	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	724	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	67					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.200G>A	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142510	0.94560	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;2.05	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.80732	0.4679	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85590	0.1245	10	0.87932	D	0	-21.046	20.5948	0.99439	0.0:0.0:1.0:0.0	.	67;67	C9K011;Q8TEB9	.;RHBD1_HUMAN	H	67	ENSP00000400765:R67H;ENSP00000344779:R67H;ENSP00000375914:R67H;ENSP00000399694:R67H;ENSP00000388847:R67H	ENSP00000344779:R67H	R	+	2	0	RHBDD1	227437853	1.000000	0.71417	0.966000	0.40874	0.681000	0.39784	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	CGT		0.453	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			30	72	0	0	0	1	0	30	72				
RABL6	55684	broad.mit.edu	37	9	139726181	139726181	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:139726181A>G	ENST00000311502.7	+	6	703	c.467A>G	c.(466-468)aAt>aGt	p.N156S	RABL6_ENST00000432842.2_Missense_Mutation_p.N118S|MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000371663.4_Missense_Mutation_p.N156S|RABL6_ENST00000371675.3_Missense_Mutation_p.N41S|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.N156S|RABL6_ENST00000357466.2_Missense_Mutation_p.N156S|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	156	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGGACCTTCAATTACATTCTC	0.622																																						ENST00000371675.3																			0											c.(121-123)aAt>aGt		RAB, member RAS oncogene family-like 6							61.0	65.0	64.0					9																	139726181		2033	4174	6207	SO:0001583	missense	55684							g.chr9:139726181A>G	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.467A>G	9.37:g.139726181A>G	ENSP00000311134:p.Asn156Ser					RABL6_ENST00000371663.4_Missense_Mutation_p.N156S|RABL6_ENST00000371671.4_Missense_Mutation_p.N156S|RABL6_ENST00000357466.2_Missense_Mutation_p.N156S|RABL6_ENST00000311502.7_Missense_Mutation_p.N156S|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.N118S	p.N41S							6	1007	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.122A>G	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	A	8.887	0.953100	0.18431	.	.	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.14	4.32	1.78	0.24846	Mitochondrial Rho-like (1);	0.259454	0.36268	N	0.002698	T	0.52158	0.1717	L	0.28115	0.83	0.43729	D	0.996213	P;B;B;B;B	0.35077	0.483;0.008;0.008;0.01;0.022	B;B;B;B;B	0.41412	0.356;0.026;0.01;0.018;0.016	T	0.42632	-0.9440	10	0.51188	T	0.08	-24.1215	4.5253	0.11978	0.6617:0.1618:0.1765:0.0	.	156;156;156;156;156	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.;.;.;PARF_HUMAN;.	S	156;156;156;156;156;118;41	ENSP00000360727:N156S;ENSP00000360736:N156S;ENSP00000311134:N156S;ENSP00000350056:N156S;ENSP00000414081:N118S;ENSP00000360740:N41S	ENSP00000311134:N156S	N	+	2	0	C9orf86	138846002	1.000000	0.71417	0.992000	0.48379	0.374000	0.29953	2.189000	0.42621	0.129000	0.18514	0.254000	0.18369	AAT		0.622	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		18	73	0	0	0	1	0	18	73				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	48	0	0	0	1	0	5	48				
PCNXL2	80003	broad.mit.edu	37	1	233394931	233394931	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:233394931C>T	ENST00000258229.9	-	5	911	c.677G>A	c.(676-678)gGt>gAt	p.G226D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	226						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCCTTTACCATTGATGAG	0.507																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(676-678)gGt>gAt		pecanex-like 2 (Drosophila)							114.0	116.0	116.0					1																	233394931		1946	4154	6100	SO:0001583	missense	80003					integral to membrane		g.chr1:233394931C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.677G>A	1.37:g.233394931C>T	ENSP00000258229:p.Gly226Asp					PCNXL2_ENST00000430153.1_5'UTR	p.G226D	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	911	-		all_cancers(173;0.0347)|Prostate(94;0.137)	226					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.677G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	0.472	-0.883792	0.02530	.	.	ENSG00000135749	ENST00000258229	T	0.62364	0.03	4.37	-2.09	0.07232	.	.	.	.	.	T	0.26882	0.0658	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	9	0.08179	T	0.78	.	2.2772	0.04105	0.2554:0.4196:0.1287:0.1963	.	226	A6NKB5	PCX2_HUMAN	D	226	ENSP00000258229:G226D	ENSP00000258229:G226D	G	-	2	0	PCNXL2	231461554	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.027000	0.13621	-0.468000	0.06922	-0.277000	0.10078	GGT		0.507	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		48	70	0	0	0	1	0	48	70				
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	rs370923244		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393																																						ENST00000437310.1																			1	Substitution - Missense(1)	p.S103L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(307-309)tCg>tTg		olfactory receptor, family 5, subfamily H, member 14		C	LEU/SER	1,4395	2.1+/-5.4	0,1,2197	198.0	204.0	202.0		308	0.9	0.0	3		202	0,8598		0,0,4299	no	missense	OR5H14	NM_001005514.1	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	103/311	97868537	1,12993	2198	4299	6497	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868537C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.308C>T	3.37:g.97868537C>T	ENSP00000401706:p.Ser103Leu						p.S103L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	368	+			103					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.308C>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360362	0.11296	2.27E-4	0.0	ENSG00000236032	ENST00000437310	T	0.00382	7.61	2.49	0.873	0.19118	GPCR, rhodopsin-like superfamily (1);	0.149335	0.31566	N	0.007432	T	0.00109	0.0003	N	0.00760	-1.21	0.09310	N	1	B	0.24317	0.101	B	0.17098	0.017	T	0.30679	-0.9970	10	0.39692	T	0.17	.	4.1872	0.10404	0.0:0.5102:0.0:0.4897	.	103	A6NHG9	O5H14_HUMAN	L	103	ENSP00000401706:S103L	ENSP00000401706:S103L	S	+	2	0	OR5H14	99351227	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.106000	0.10890	0.365000	0.24400	0.195000	0.17529	TCG		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			11	183	0	0	0	1	0	11	183				
ANK3	288	broad.mit.edu	37	10	61848084	61848084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:61848084G>A	ENST00000280772.2	-	29	3552	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ANK3_ENST00000355288.2_Missense_Mutation_p.R255C|ANK3_ENST00000503366.1_Missense_Mutation_p.R1122C|ANK3_ENST00000373827.2_Missense_Mutation_p.R1115C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1121	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCAGATACGCTTTTTCCCT	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3361-3363)Cgt>Tgt		ankyrin 3, node of Ranvier (ankyrin G)							90.0	90.0	90.0					10																	61848084		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848084G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3361C>T	10.37:g.61848084G>A	ENSP00000280772:p.Arg1121Cys					ANK3_ENST00000503366.1_Missense_Mutation_p.R1122C|ANK3_ENST00000373827.2_Missense_Mutation_p.R1115C|ANK3_ENST00000355288.2_Missense_Mutation_p.R255C	p.R1121C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3552	-			1121					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3361C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892937	0.91889	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.73363	-0.41;-0.74;-0.74;-0.74	6.17	6.17	0.99709	.	0.000000	0.42053	D	0.000765	D	0.88321	0.6405	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.98;1.0	D;D;D;D;D;P;D	0.97110	0.984;0.997;0.998;1.0;0.997;0.783;0.994	D	0.89475	0.3746	10	0.87932	D	0	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	1122;255;654;1115;1121;356;255	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	C	1121;1115;255;255;1122;1101;356;756;756;254;654	ENSP00000280772:R1121C;ENSP00000362933:R1115C;ENSP00000347436:R255C;ENSP00000425236:R1122C	ENSP00000280772:R1121C	R	-	1	0	ANK3	61518090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.274000	0.58921	2.941000	0.99782	0.655000	0.94253	CGT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	60	0	0	0	1	0	8	60				
KCNV2	169522	broad.mit.edu	37	9	2718275	2718275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:2718275G>A	ENST00000382082.3	+	1	774	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	179					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGTGTCCGCGCCGCTTCCTG	0.647																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(535-537)cGc>cAc		potassium channel, subfamily V, member 2							20.0	18.0	19.0					9																	2718275		2201	4295	6496	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718275G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.536G>A	9.37:g.2718275G>A	ENSP00000371514:p.Arg179His						p.R179H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	774	+			179					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.536G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199334	0.38806	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.77098	-1.07	4.91	4.02	0.46733	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	L	0.54323	1.7	0.58432	D	0.999991	P	0.39737	0.685	B	0.34779	0.189	T	0.68891	-0.5289	10	0.34782	T	0.22	.	13.143	0.59446	0.0776:0.0:0.9224:0.0	.	179	Q8TDN2	KCNV2_HUMAN	H	179	ENSP00000371514:R179H	ENSP00000371514:R179H	R	+	2	0	KCNV2	2708275	0.953000	0.32496	0.565000	0.28409	0.048000	0.14542	2.179000	0.42528	1.069000	0.40788	0.407000	0.27541	CGC		0.647	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		18	19	0	0	0	1	0	18	19				
ANKRD36	375248	broad.mit.edu	37	2	97909606	97909606	+	Missense_Mutation	SNP	A	A	G	rs202082571	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:97909606A>G	ENST00000461153.2	+	70	4653	c.4409A>G	c.(4408-4410)aAg>aGg	p.K1470R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.K1470R|ANKRD36_ENST00000357042.4_5'Flank			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1470										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAAGAAAAAAAGAAAAGAAGA	0.313																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(4408-4410)aAg>aGg		ankyrin repeat domain 36							145.0	98.0	112.0					2																	97909606		689	1588	2277	SO:0001583	missense	375248							g.chr2:97909606A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.4409A>G	2.37:g.97909606A>G	ENSP00000419530:p.Lys1470Arg					ANKRD36_ENST00000461153.2_Missense_Mutation_p.K1470R	p.K1470R	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			70	4653	+			1470					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.4409A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788982	0.31685	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.16743	2.32;2.32	1.5	1.5	0.22942	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.49389	D	0.999788	B;P	0.39424	0.043;0.673	B;B	0.41236	0.007;0.351	T	0.19679	-1.0298	9	0.72032	D	0.01	.	7.0837	0.25245	1.0:0.0:0.0:0.0	.	1470;294	A6QL64;A6QL64-3	AN36A_HUMAN;.	R	1470;1470;737	ENSP00000419530:K1470R;ENSP00000391950:K1470R	ENSP00000391950:K1470R	K	+	2	0	ANKRD36	97273324	0.998000	0.40836	0.002000	0.10522	0.180000	0.23129	2.374000	0.44274	0.947000	0.37659	0.155000	0.16302	AAG		0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	34	0	0	0	1	0	3	34				
ZG16B	124220	broad.mit.edu	37	16	2881941	2881941	+	Nonsense_Mutation	SNP	C	C	A	rs377380417		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:2881941C>A	ENST00000382280.3	+	4	487	c.408C>A	c.(406-408)taC>taA	p.Y136*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Y106*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	136					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGTCATGTACACCAGCAAGG	0.547																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(406-408)taC>taA		zymogen granule protein 16B							59.0	64.0	62.0					16																	2881941		1992	4182	6174	SO:0001587	stop_gained	124220					extracellular region	sugar binding	g.chr16:2881941C>A	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.408C>A	16.37:g.2881941C>A	ENSP00000371715:p.Tyr136*					ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Y106*	p.Y136*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			4	487	+			136					A6NIY1|B2R4F6|Q6UW28	Nonsense_Mutation	SNP	ENST00000382280.3	37	c.408C>A	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	c	11.59	1.683783	0.29872	.	.	ENSG00000162078	ENST00000382280	.	.	.	3.2	1.21	0.21127	.	1.156520	0.06795	N	0.787671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1144	5.3376	0.15967	0.0:0.7302:0.0:0.2698	.	.	.	.	X	136	.	ENSP00000371715:Y136X	Y	+	3	2	ZG16B	2821942	0.004000	0.15560	0.022000	0.16811	0.008000	0.06430	-0.195000	0.09546	0.376000	0.24707	0.556000	0.70494	TAC		0.547	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		6	68	1	0	3.59834e-05	1	3.70905e-05	6	68				
CNGB1	1258	broad.mit.edu	37	16	58001075	58001075	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:58001075G>T	ENST00000251102.8	-	2	176	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.P39Q|CNGB1_ENST00000564448.1_Missense_Mutation_p.P39Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	39	Glu-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATTCGGTTCTGGTTCCACCTC	0.642																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(115-117)cCa>cAa		cyclic nucleotide gated channel beta 1							93.0	98.0	97.0					16																	58001075		2011	4168	6179	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001075G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.116C>A	16.37:g.58001075G>T	ENSP00000251102:p.Pro39Gln					CNGB1_ENST00000251102.8_Missense_Mutation_p.P39Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.P39Q	p.P39Q			Q14028	CNGB1_HUMAN			2	176	-			39			Glu-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.116C>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863245	0.51482	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.98531	-4.98;0.41	5.23	4.27	0.50696	.	0.651158	0.12752	N	0.442089	D	0.97999	0.9341	L	0.49126	1.545	0.09310	N	1	D;D	0.76494	0.999;0.969	D;P	0.65573	0.936;0.68	D	0.93732	0.7042	10	0.35671	T	0.21	.	10.0731	0.42345	0.0937:0.0:0.9063:0.0	.	39;39	Q14028-3;Q14028	.;CNGB1_HUMAN	Q	39	ENSP00000251102:P39Q;ENSP00000311670:P39Q	ENSP00000251102:P39Q	P	-	2	0	CNGB1	56558576	0.001000	0.12720	0.003000	0.11579	0.027000	0.11550	0.768000	0.26590	1.340000	0.45581	0.448000	0.29417	CCA		0.642	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		44	64	1	0	2.68985e-26	1	3.00367e-26	44	64				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		7	71	0	0	0	1	0	7	71				
CASKIN2	57513	broad.mit.edu	37	17	73498548	73498548	+	Silent	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:73498548C>G	ENST00000321617.3	-	18	3193	c.2607G>C	c.(2605-2607)ccG>ccC	p.P869P	CASKIN2_ENST00000433559.2_Silent_p.P787P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	869	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ggggcgggggcggggggccTT	0.726																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2605-2607)ccG>ccC		CASK interacting protein 2							3.0	4.0	3.0					17																	73498548		1719	3612	5331	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498548C>G	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2607G>C	17.37:g.73498548C>G						CASKIN2_ENST00000433559.2_Silent_p.P787P	p.P869P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3193	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		869			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2607G>C	CCDS11723.1																																																																																				0.726	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	3	0	0	0	1	0	3	3				
SEMA4A	64218	broad.mit.edu	37	1	156144932	156144932	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:156144932G>T	ENST00000368285.3	+	13	1757	c.1490G>T	c.(1489-1491)tGt>tTt	p.C497F	SEMA4A_ENST00000368286.2_Missense_Mutation_p.C365F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.C497F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.C365F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.C497F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	497	PSI.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGAGCCAACTGTAGTGTCTAT	0.602																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(1489-1491)tGt>tTt		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							198.0	192.0	194.0					1																	156144932		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156144932G>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1490G>T	1.37:g.156144932G>T	ENSP00000357268:p.Cys497Phe					SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.C365F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.C365F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.C497F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.C497F	p.C497F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			13	1757	+	Hepatocellular(266;0.158)		497			PSI.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1490G>T	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955128	0.73902	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	4.27	4.27	0.50696	.	0.107977	0.64402	D	0.000004	D	0.96262	0.8781	H	0.95260	3.645	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97219	0.9876	10	0.87932	D	0	.	14.2498	0.66011	0.0:0.0:1.0:0.0	.	365;497	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	F	497;497;365;459;459;365;497	ENSP00000347117:C497F;ENSP00000357268:C497F;ENSP00000357267:C365F;ENSP00000357269:C365F;ENSP00000357265:C497F	ENSP00000347117:C497F	C	+	2	0	SEMA4A	154411556	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.495000	0.81514	2.210000	0.71456	0.561000	0.74099	TGT		0.602	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		37	322	1	0	7.04047e-22	1	7.73298e-22	37	322				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	41	0	0	0	1	0	19	41				
ACLY	47	broad.mit.edu	37	17	40065858	40065858	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:40065858G>A	ENST00000352035.2	-	5	571	c.441C>T	c.(439-441)gcC>gcT	p.A147A	ACLY_ENST00000590151.1_Silent_p.A147A|ACLY_ENST00000393896.2_Silent_p.A147A|ACLY_ENST00000353196.1_Silent_p.A147A|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	147	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTGGGCCTTGGCGTCCACAT	0.547																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(439-441)gcC>gcT		ATP citrate lyase							126.0	104.0	111.0					17																	40065858		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40065858G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.441C>T	17.37:g.40065858G>A						ACLY_ENST00000393896.2_Silent_p.A147A|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.A147A|ACLY_ENST00000353196.1_Silent_p.A147A	p.A147A	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			5	571	-		Breast(137;0.000143)	147					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.441C>T	CCDS11412.1																																																																																				0.547	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		10	66	0	0	0	1	0	10	66				
ANKRD11	29123	broad.mit.edu	37	16	89357151	89357151	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357151C>T	ENST00000301030.4	-	6	943	c.483G>A	c.(481-483)gtG>gtA	p.V161V	ANKRD11_ENST00000378330.2_Silent_p.V161V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	161					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTGTTCACTTTATCTT	0.592																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(481-483)gtG>gtA		ankyrin repeat domain 11							72.0	70.0	71.0					16																	89357151		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89357151C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.483G>A	16.37:g.89357151C>T						ANKRD11_ENST00000378330.2_Silent_p.V161V	p.V161V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	6	943	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	161					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.483G>A	CCDS32513.1																																																																																				0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		19	115	0	0	0	1	0	19	115				
CD2AP	23607	broad.mit.edu	37	6	47575765	47575765	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:47575765G>A	ENST00000359314.5	+	15	2088		c.e15+1		CD2AP_ENST00000486693.1_Splice_Site	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTCTCCAAAGGTGAGGTGCAT	0.383																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.e15+1		CD2-associated protein							82.0	83.0	83.0					6																	47575765		2203	4300	6503	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47575765G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1632+1G>A	6.37:g.47575765G>A						CD2AP_ENST00000486693.1_Splice_Site		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		15	2088	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37		CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910346	0.33721	.	.	ENSG00000198087	ENST00000359314	.	.	.	4.53	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5471	0.27772	0.1133:0.0:0.8867:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47683724	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	3.195000	0.51013	2.441000	0.82636	0.467000	0.42956	.		0.383	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		Intron	21	32	0	0	0	1	0	21	32				
DSC1	1823	broad.mit.edu	37	18	28739449	28739449	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr18:28739449C>G	ENST00000257198.5	-	2	368	c.107G>C	c.(106-108)cGa>cCa	p.R36P	DSC1_ENST00000257197.3_Missense_Mutation_p.R36P|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	36					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAGGAACTCGAAGATAAAC	0.338																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(106-108)cGa>cCa		desmocollin 1							89.0	84.0	86.0					18																	28739449		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28739449C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.107G>C	18.37:g.28739449C>G	ENSP00000257198:p.Arg36Pro					DSC1_ENST00000257198.5_Missense_Mutation_p.R36P|RP11-408H20.2_ENST00000581836.1_RNA	p.R36P	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		2	368	-			36					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.107G>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766644	0.15983	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.43294	0.95;0.95	5.5	-2.98	0.05513	Cadherin prodomain-like (1);Cadherin-like (1);	1.121610	0.06895	N	0.804997	T	0.25044	0.0608	N	0.22421	0.69	0.09310	N	1	P;P	0.41041	0.736;0.736	B;B	0.37989	0.262;0.262	T	0.18808	-1.0325	10	0.40728	T	0.16	.	6.2324	0.20742	0.1105:0.2832:0.0:0.6062	.	36;36	Q08554;Q9HB00	DSC1_HUMAN;.	P	36	ENSP00000257197:R36P;ENSP00000257198:R36P	ENSP00000257197:R36P	R	-	2	0	DSC1	26993447	0.900000	0.30661	0.315000	0.25238	0.002000	0.02628	0.580000	0.23803	-0.666000	0.05310	-0.895000	0.02911	CGA		0.338	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		19	23	0	0	0	1	0	19	23				
OR5K1	26339	broad.mit.edu	37	3	98188705	98188705	+	Silent	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:98188705T>C	ENST00000332650.5	+	1	382	c.285T>C	c.(283-285)taT>taC	p.Y95Y		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCCCTCTATGAATGTGCAG	0.438																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(283-285)taT>taC		olfactory receptor, family 5, subfamily K, member 1							148.0	156.0	154.0					3																	98188705		2203	4299	6502	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188705T>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.285T>C	3.37:g.98188705T>C							p.Y95Y	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	382	+			95					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.285T>C	CCDS43115.1																																																																																				0.438	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			5	179	0	0	0	1	0	5	179				
ADD2	119	broad.mit.edu	37	2	70919611	70919611	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:70919611C>G	ENST00000264436.4	-	7	1073	c.629G>C	c.(628-630)tGt>tCt	p.C210S	ADD2_ENST00000355733.3_Missense_Mutation_p.C210S|ADD2_ENST00000407644.2_Missense_Mutation_p.C210S|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.C226S|ADD2_ENST00000413157.2_Missense_Mutation_p.C210S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	210					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGAGTGCAGACAGAAGCCTGT	0.597																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(628-630)tGt>tCt		adducin 2 (beta)							87.0	73.0	77.0					2																	70919611		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70919611C>G	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.629G>C	2.37:g.70919611C>G	ENSP00000264436:p.Cys210Ser					ADD2_ENST00000413157.2_Missense_Mutation_p.C210S|ADD2_ENST00000407644.2_Missense_Mutation_p.C210S|ADD2_ENST00000355733.3_Missense_Mutation_p.C210S|ADD2_ENST00000430656.1_Missense_Mutation_p.C226S	p.C210S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			7	1073	-			210					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.629G>C	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	7.291	0.611147	0.14066	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656;ENST00000415348	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.1	5.1	0.69264	Class II aldolase/adducin, N-terminal (3);	0.091548	0.64402	N	0.000001	T	0.03915	0.0110	N	0.00066	-2.3	0.31466	N	0.668952	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.15809	-1.0424	10	0.02654	T	1	-6.0233	16.0541	0.80782	0.0:1.0:0.0:0.0	.	226;210;210;210	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	S	210;210;210;210;210;210;226;210	ENSP00000264436:C210S;ENSP00000384677:C210S;ENSP00000347972:C210S;ENSP00000388072:C210S;ENSP00000398112:C226S;ENSP00000412357:C210S	ENSP00000264436:C210S	C	-	2	0	ADD2	70773119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.903000	0.48711	2.636000	0.89361	0.655000	0.94253	TGT		0.597	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		3	34	0	0	0	1	0	3	34				
AP4B1	10717	broad.mit.edu	37	1	114443970	114443970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:114443970G>A	ENST00000369569.1	-	4	785	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	AP4B1_ENST00000256658.4_Missense_Mutation_p.R169C|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	169					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGGTCACGCAGCAAACTG	0.413																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(505-507)Cgt>Tgt		adaptor-related protein complex 4, beta 1 subunit							85.0	82.0	83.0					1																	114443970		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114443970G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.505C>T	1.37:g.114443970G>A	ENSP00000358582:p.Arg169Cys					AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.R169C|AP4B1_ENST00000369566.3_Intron	p.R169C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	785	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	169					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.505C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232598	0.79688	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369564;ENST00000369571	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.4	5.4	0.78164	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05146	-1.0903	10	0.52906	T	0.07	-0.7519	14.393	0.66991	0.0:0.0:0.8523:0.1477	.	169	Q9Y6B7	AP4B1_HUMAN	C	169;169;94;169	ENSP00000358582:R169C;ENSP00000256658:R169C;ENSP00000358577:R94C;ENSP00000358584:R169C	ENSP00000256658:R169C	R	-	1	0	AP4B1	114245493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.216000	0.65246	2.683000	0.91414	0.655000	0.94253	CGT		0.413	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		14	62	0	0	0	1	0	14	62				
ULK1	8408	broad.mit.edu	37	12	132392064	132392064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:132392064G>A	ENST00000321867.4	+	5	655	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGACCTGGCCGACTACCTGCA	0.711																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(304-306)Gac>Aac		unc-51 like autophagy activating kinase 1							64.0	54.0	57.0					12																	132392064		2202	4300	6502	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132392064G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.304G>A	12.37:g.132392064G>A	ENSP00000324560:p.Asp102Asn						p.D102N	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	5	655	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		102			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.304G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096601	0.76870	.	.	ENSG00000177169	ENST00000321867;ENST00000537421	T;T	0.27557	1.66;1.66	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.48479	-0.9032	10	0.72032	D	0.01	-48.3813	15.6847	0.77400	0.0:0.0:1.0:0.0	.	102	O75385	ULK1_HUMAN	N	102;19	ENSP00000324560:D102N;ENSP00000438953:D19N	ENSP00000324560:D102N	D	+	1	0	ULK1	130958017	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	8.377000	0.90141	2.346000	0.79739	0.563000	0.77884	GAC		0.711	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			4	31	0	0	0	1	0	4	31				
MYO7A	4647	broad.mit.edu	37	11	76912498	76912498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:76912498G>A	ENST00000409709.3	+	36	5130	c.4858G>A	c.(4858-4860)Gag>Aag	p.E1620K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1582K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1571K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1620	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACAGCAGGCGAGGAGTCAGG	0.567																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4858-4860)Gag>Aag		myosin VIIA							45.0	51.0	49.0					11																	76912498		2159	4248	6407	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912498G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4858G>A	11.37:g.76912498G>A	ENSP00000386331:p.Glu1620Lys					MYO7A_ENST00000409619.2_Missense_Mutation_p.E1571K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E1582K	p.E1620K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5130	+			1620			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4858G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854307	0.51270	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.68903	1.5;1.5;1.5;-0.36	5.11	5.11	0.69529	Src homology-3 domain (3);	0.052901	0.85682	D	0.000000	T	0.64757	0.2627	L	0.55481	1.735	0.58432	D	0.999999	P;P;P	0.41232	0.743;0.661;0.576	B;B;B	0.38842	0.283;0.221;0.222	T	0.68153	-0.5484	10	0.46703	T	0.11	.	18.5563	0.91086	0.0:0.0:1.0:0.0	.	1571;1582;1620	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	1620;1582;1571;793;1619;1589;1496;762;235	ENSP00000386331:E1620K;ENSP00000392185:E1582K;ENSP00000386635:E1571K;ENSP00000417017:E762K	ENSP00000345075:E1496K	E	+	1	0	MYO7A	76590146	1.000000	0.71417	0.963000	0.40424	0.315000	0.28087	6.153000	0.71819	2.375000	0.81037	0.561000	0.74099	GAG		0.567	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	17	0	0	0	1	0	8	17				
ANKRD30A	91074	broad.mit.edu	37	10	37508226	37508226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:37508226G>T	ENST00000602533.1	+	34	3517	c.3418G>T	c.(3418-3420)Gaa>Taa	p.E1140*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E1140*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.E1259*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1196					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3775-3777)Gaa>Taa		ankyrin repeat domain 30A							69.0	67.0	68.0					10																	37508226		1866	4099	5965	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508226G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3418G>T	10.37:g.37508226G>T	ENSP00000473551:p.Glu1140*					ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E1140*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E1140*	p.E1259*			Q9BXX3	AN30A_HUMAN			40	3874	+			1196					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3775G>T		.	.	.	.	.	.	.	.	.	.	g	36	5.603241	0.96614	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.81	0.741	0.18336	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.7353	0.40384	0.0:0.4107:0.5893:0.0	.	.	.	.	X	1140;1259	.	ENSP00000354432:E1140X	E	+	1	0	ANKRD30A	37548232	0.995000	0.38212	0.020000	0.16555	0.001000	0.01503	2.392000	0.44433	-0.046000	0.13446	-0.547000	0.04224	GAA		0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		26	64	1	0	2.41591e-17	1	2.5693e-17	26	64				
PNP	4860	broad.mit.edu	37	14	20940627	20940627	+	Nonsense_Mutation	SNP	C	C	T	rs104894460		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:20940627C>T	ENST00000361505.5	+	2	318	c.172C>T	c.(172-174)Cga>Tga	p.R58*	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CAACTTTCCCCGAAGTACAGG	0.468																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10	GRCh37	CM012158	PNP	M	rs104894460	c.(172-174)Cga>Tga		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						61.0	55.0	57.0					14																	20940627		2203	4300	6503	SO:0001587	stop_gained	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20940627C>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.172C>T	14.37:g.20940627C>T	ENSP00000354532:p.Arg58*						p.R58*	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			2	318	+			58						Nonsense_Mutation	SNP	ENST00000361505.5	37	c.172C>T	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879294	0.91740	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	.	.	.	5.54	2.69	0.31865	.	0.798013	0.12104	N	0.499173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	0.7706	10.5941	0.45327	0.2671:0.6042:0.1287:0.0	.	.	.	.	X	58;58;97	.	ENSP00000354532:R58X	R	+	1	2	PNP	20010467	0.001000	0.12720	0.135000	0.22099	0.720000	0.41350	1.745000	0.38278	0.418000	0.25898	0.655000	0.94253	CGA		0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		16	18	0	0	0	1	0	16	18				
NLRP13	126204	broad.mit.edu	37	19	56421928	56421928	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:56421928C>T	ENST00000342929.3	-	6	2282		c.e6+1		NLRP13_ENST00000588751.1_Splice_Site	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13								ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCACACTTACGTCAGTTTCT	0.458																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.e6+1		NLR family, pyrin domain containing 13							129.0	117.0	121.0					19																	56421928		2203	4300	6503	SO:0001630	splice_region_variant	126204						ATP binding	g.chr19:56421928C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2282+1G>A	19.37:g.56421928C>T						NLRP13_ENST00000342929.3_Splice_Site				Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2307	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)						Q7RTR5	Splice_Site	SNP	ENST00000342929.3	37		CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	4.670	0.124556	0.08931	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.96	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9659	0.19325	0.0:0.8456:0.0:0.1544	.	.	.	.	.	-1	.	.	.	-	.	.	NLRP13	61113740	0.908000	0.30866	0.947000	0.38551	0.115000	0.19883	1.687000	0.37680	0.577000	0.29470	-0.324000	0.08512	.		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	Intron	17	40	0	0	0	1	0	17	40				
REXO1L1P	254958	broad.mit.edu	37	8	86573801	86573801	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr8:86573801G>A	ENST00000379010.2	-	1	1925	c.1926C>T	c.(1924-1926)gaC>gaT	p.D642D		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						AGGCGCTTGCGTCCTCGCTGG	0.667																																						ENST00000379010.2																			0				endometrium(1)|lung(4)	5						c.(1924-1926)gaC>gaT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1							5.0	5.0	5.0					8																	86573801		1853	3780	5633	SO:0001819	synonymous_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573801G>A																												ENST00000379010.2:c.1926C>T	8.37:g.86573801G>A							p.D642D	NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN			1	1925	-			642						Silent	SNP	ENST00000379010.2	37	c.1926C>T																																																																																					0.667	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			5	185	0	0	0	1	0	5	185				
SCN1B	6324	broad.mit.edu	37	19	35524708	35524708	+	Intron	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:35524708G>A	ENST00000262631.5	+	3	585				SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Nonsense_Mutation_p.W171*|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit						axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGACAGATGGCAGGCAGTGG	0.647																																						ENST00000415950.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(511-513)tgG>tgA		sodium channel, voltage-gated, type I, beta subunit							26.0	21.0	23.0					19																	35524708		1327	2309	3636	SO:0001627	intron_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35524708G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.448+65G>A	19.37:g.35524708G>A						SCN1B_ENST00000262631.5_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000595652.1_Intron	p.W171*	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	513	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		49					Q5TZZ4|Q6TN97	Nonsense_Mutation	SNP	ENST00000262631.5	37	c.513G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762333	0.69763	.	.	ENSG00000105711	ENST00000415950	.	.	.	3.96	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.1199	6.8812	0.24174	0.1409:0.0:0.8591:0.0	.	.	.	.	X	171	.	.	W	+	3	0	SCN1B	40216548	0.996000	0.38824	0.993000	0.49108	0.550000	0.35303	2.097000	0.41748	0.918000	0.36919	-0.367000	0.07326	TGG		0.647	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			31	51	0	0	0	1	0	31	51				
KLHL17	339451	broad.mit.edu	37	1	897822	897822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:897822G>A	ENST00000338591.3	+	5	906	c.799G>A	c.(799-801)Gtg>Atg	p.V267M		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	267	BACK.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAACACGACGTGGACGCCCG	0.677																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(799-801)Gtg>Atg		kelch-like family member 17							46.0	46.0	46.0					1																	897822		2200	4298	6498	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:897822G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.799G>A	1.37:g.897822G>A	ENSP00000343930:p.Val267Met						p.V267M	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	906	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	267			BACK.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.799G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418886	0.25552	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.69561	-0.41	5.52	4.6	0.57074	BTB/Kelch-associated (2);	0.105878	0.64402	D	0.000006	T	0.63177	0.2489	L	0.38733	1.17	0.41734	D	0.989577	P	0.47962	0.903	P	0.47251	0.542	T	0.62558	-0.6829	10	0.33940	T	0.23	.	15.2571	0.73593	0.0:0.0:0.8581:0.1418	.	267	Q6TDP4	KLH17_HUMAN	M	267;143	ENSP00000343930:V267M	ENSP00000343930:V267M	V	+	1	0	KLHL17	887685	0.994000	0.37717	0.571000	0.28486	0.206000	0.24218	2.440000	0.44855	1.309000	0.44985	0.462000	0.41574	GTG		0.677	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		12	74	0	0	0	1	0	12	74				
NCAPD2	9918	broad.mit.edu	37	12	6636155	6636155	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:6636155G>C	ENST00000315579.5	+	22	3632	c.2833G>C	c.(2833-2835)Gtg>Ctg	p.V945L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V900L|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	945					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAGCAGGCAGTGAGTGGAGA	0.592																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2833-2835)Gtg>Ctg		non-SMC condensin I complex, subunit D2							68.0	71.0	70.0					12																	6636155		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6636155G>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2833G>C	12.37:g.6636155G>C	ENSP00000325017:p.Val945Leu					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V900L	p.V945L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			22	3632	+			945					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2833G>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121799	0.77436	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.91464	-2.85;-2.85;-2.85	5.36	4.47	0.54385	Armadillo-type fold (1);	0.063743	0.64402	D	0.000005	D	0.93314	0.7869	M	0.71296	2.17	0.53688	D	0.999973	D;P;D	0.64830	0.994;0.873;0.989	P;P;P	0.61800	0.894;0.742;0.786	D	0.92518	0.6022	10	0.40728	T	0.16	-19.8011	12.2714	0.54708	0.1415:0.0:0.8585:0.0	.	900;906;945	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	945;817;900;817	ENSP00000325017:V945L;ENSP00000371895:V817L;ENSP00000444417:V900L	ENSP00000325017:V945L	V	+	1	0	NCAPD2	6506416	1.000000	0.71417	0.885000	0.34714	0.990000	0.78478	4.282000	0.58971	1.398000	0.46701	0.655000	0.94253	GTG		0.592	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		139	113	0	0	0	1	0	139	113				
NACA	4666	broad.mit.edu	37	12	57112865	57112865	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:57112865G>C	ENST00000454682.1	-	3	2730	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	817	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTATCAGGGCCAGCAGAA	0.458			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2449-2451)Cct>Gct		nascent polypeptide-associated complex alpha subunit							47.0	45.0	45.0					12																	57112865		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112865G>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2449C>G	12.37:g.57112865G>C	ENSP00000403817:p.Pro817Ala					NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	p.P817A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2730	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.2449C>G		.	.	.	.	.	.	.	.	.	.	G	5.644	0.303556	0.10678	.	.	ENSG00000196531	ENST00000454682	T	0.41065	1.01	2.88	0.834	0.18880	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	B	0.28933	0.228	B	0.27608	0.081	T	0.18871	-1.0323	7	.	.	.	.	5.1864	0.15185	0.3588:0.0:0.6412:0.0	.	817	E9PAV3	.	A	817	ENSP00000403817:P817A	.	P	-	1	0	NACA	55399132	0.007000	0.16637	0.008000	0.14137	0.251000	0.25915	-0.068000	0.11561	0.309000	0.22966	0.449000	0.29647	CCT		0.458	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		14	18	0	0	0	1	0	14	18				
LRRC3	81543	broad.mit.edu	37	21	45876675	45876675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr21:45876675T>C	ENST00000291592.4	+	2	465	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	50	LRRNT.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCTGTCTTCTGCAGCTTGCG	0.677																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(148-150)Tgc>Cgc		leucine rich repeat containing 3							25.0	28.0	26.0					21																	45876675		2203	4299	6502	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876675T>C	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.148T>C	21.37:g.45876675T>C	ENSP00000291592:p.Cys50Arg						p.C50R	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	465	+		Breast(209;0.00908)	50			LRRNT.		Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.148T>C	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245769	0.39697	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.99985	-11.65	4.36	4.36	0.52297	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99986	0.9997	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98730	1.0712	10	0.87932	D	0	-31.9383	13.552	0.61738	0.0:0.0:0.0:1.0	.	50	Q9BY71	LRRC3_HUMAN	R	50	ENSP00000291592:C50R	ENSP00000291592:C50R	C	+	1	0	LRRC3	44701103	1.000000	0.71417	0.606000	0.28943	0.008000	0.06430	6.044000	0.71012	1.737000	0.51674	0.459000	0.35465	TGC		0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			25	39	0	0	0	1	0	25	39				
HMCN1	83872	broad.mit.edu	37	1	185969241	185969241	+	Silent	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:185969241C>T	ENST00000271588.4	+	26	4168	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	HMCN1_ENST00000367492.2_Silent_p.G1313G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1313	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGCCTGGCATTTCTATCT	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3937-3939)ggC>ggT		hemicentin 1							132.0	122.0	125.0					1																	185969241		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969241C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3939C>T	1.37:g.185969241C>T						HMCN1_ENST00000367492.2_Silent_p.G1313G	p.G1313G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			26	4168	+			1313			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3939C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	37	0	0	0	1	0	16	37				
RXFP2	122042	broad.mit.edu	37	13	32360543	32360543	+	Missense_Mutation	SNP	C	C	T	rs181937374		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr13:32360543C>T	ENST00000298386.2	+	12	1024	c.953C>T	c.(952-954)aCg>aTg	p.T318M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T294M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	318					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATACGATAACGGAACTATCA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19059	0.0		0.0	False		,,,				2504	0.0					ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(952-954)aCg>aTg		relaxin/insulin-like family peptide receptor 2							117.0	107.0	110.0					13																	32360543		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32360543C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.953C>T	13.37:g.32360543C>T	ENSP00000298386:p.Thr318Met					RXFP2_ENST00000380314.1_Missense_Mutation_p.T294M	p.T318M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	12	1024	+		Lung SC(185;0.0262)	318					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.953C>T	CCDS9342.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.696	1.153284	0.21371	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.60040	0.22;0.22	5.72	-11.4	0.00090	.	0.924814	0.09348	N	0.814496	T	0.46927	0.1418	L	0.53249	1.67	0.09310	N	1	B;B	0.18013	0.025;0.015	B;B	0.20184	0.028;0.017	T	0.31861	-0.9928	10	0.35671	T	0.21	.	16.2565	0.82519	0.0:0.6834:0.0883:0.2283	.	294;318	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	M	294;318	ENSP00000369670:T294M;ENSP00000298386:T318M	ENSP00000298386:T318M	T	+	2	0	RXFP2	31258543	0.000000	0.05858	0.064000	0.19789	0.786000	0.44442	-1.450000	0.02390	-2.387000	0.00589	-0.946000	0.02672	ACG		0.358	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		19	32	0	0	0	1	0	19	32				
DNMT3A	1788	broad.mit.edu	37	2	25467457	25467457	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:25467457C>T	ENST00000264709.3	-	14	1956	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C317Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C540Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C351Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	540	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCACAGCAGATGGTGCA	0.602			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1618-1620)tGc>tAc		DNA (cytosine-5-)-methyltransferase 3 alpha							120.0	103.0	109.0					2																	25467457		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467457C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1619G>A	2.37:g.25467457C>T	ENSP00000264709:p.Cys540Tyr					DNMT3A_ENST00000321117.5_Missense_Mutation_p.C540Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C317Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C351Y	p.C540Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			14	1956	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		540			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1619G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377617	0.82682	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05	5.65	4.77	0.60923	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	D	0.96993	0.9723	10	0.87932	D	0	-10.8398	13.8449	0.63461	0.1538:0.8462:0.0:0.0	.	540;351	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Y	351;540;540;317	ENSP00000370122:C351Y;ENSP00000324375:C540Y;ENSP00000264709:C540Y;ENSP00000384237:C317Y	ENSP00000264709:C540Y	C	-	2	0	DNMT3A	25320961	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	1.371000	0.46172	0.655000	0.94253	TGC		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		23	31	0	0	0	1	0	23	31				
SLC25A22	79751	broad.mit.edu	37	11	792434	792434	+	Nonsense_Mutation	SNP	G	G	T	rs199847999		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:792434G>T	ENST00000320230.5	-	8	1093	c.612C>A	c.(610-612)taC>taA	p.Y204*	CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Nonsense_Mutation_p.Y204*|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	204					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGCGGGAAGTACACCACAG	0.682																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(610-612)taC>taA		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						69.0	75.0	73.0					11																	792434		2203	4298	6501	SO:0001587	stop_gained	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792434G>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.612C>A	11.37:g.792434G>T	ENSP00000322020:p.Tyr204*					SLC25A22_ENST00000531214.1_Nonsense_Mutation_p.Y204*	p.Y204*	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1093	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	204					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Nonsense_Mutation	SNP	ENST00000320230.5	37	c.612C>A	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	g	36	5.748637	0.96882	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290	.	.	.	3.77	2.85	0.33270	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5531	9.119	0.36775	0.1818:0.0:0.8182:0.0	.	.	.	.	X	204;204;229	.	ENSP00000322020:Y204X	Y	-	3	2	SLC25A22	782434	1.000000	0.71417	0.977000	0.42913	0.374000	0.29953	2.600000	0.46240	0.922000	0.37019	0.509000	0.49947	TAC		0.682	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			4	140	1	0	1	1	1	4	140				
PTER	9317	broad.mit.edu	37	10	16547111	16547111	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:16547111A>G	ENST00000378000.1	+	5	1037	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	PTER_ENST00000423462.2_Intron|PTER_ENST00000298942.3_Missense_Mutation_p.Q264R|PTER_ENST00000535784.2_Missense_Mutation_p.Q264R	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	264					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTCATTACCAACTCGGCCCA	0.393																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(790-792)cAa>cGa		phosphotriesterase related							171.0	164.0	166.0					10																	16547111		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16547111A>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.791A>G	10.37:g.16547111A>G	ENSP00000367239:p.Gln264Arg					PTER_ENST00000298942.3_Missense_Mutation_p.Q264R|PTER_ENST00000423462.2_Intron|PTER_ENST00000535784.2_Missense_Mutation_p.Q264R	p.Q264R	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			5	1037	+			264					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.791A>G	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703063	0.48412	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000378000;ENST00000298942	T;T;T	0.46451	0.87;0.87;0.87	5.11	3.95	0.45737	.	0.104471	0.64402	D	0.000003	T	0.65281	0.2676	M	0.89287	3.02	0.58432	D	0.999994	D	0.53885	0.963	D	0.64877	0.93	T	0.66670	-0.5865	10	0.30078	T	0.28	-11.5681	12.2801	0.54759	0.8579:0.1421:0.0:0.0	.	264	Q96BW5	PTER_HUMAN	R	264	ENSP00000439485:Q264R;ENSP00000367239:Q264R;ENSP00000298942:Q264R	ENSP00000298942:Q264R	Q	+	2	0	PTER	16587117	0.999000	0.42202	0.675000	0.29917	0.440000	0.31957	4.132000	0.57977	0.888000	0.36160	0.454000	0.30748	CAA		0.393	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		46	66	0	0	0	1	0	46	66				
CACNA1B	774	broad.mit.edu	37	9	140946556	140946556	+	Silent	SNP	G	G	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:140946556G>A	ENST00000371372.1	+	25	3868	c.3723G>A	c.(3721-3723)ggG>ggA	p.G1241G	CACNA1B_ENST00000277549.5_Silent_p.G437G|CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G|CACNA1B_ENST00000371357.1_Silent_p.G1242G	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1241					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCCAAAGGGAAAGACATCA	0.577																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1309-1311)ggG>ggA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						47.0	53.0	51.0					9																	140946556		2025	4191	6216	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140946556G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3723G>A	9.37:g.140946556G>A						CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000371372.1_Silent_p.G1241G|CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G|CACNA1B_ENST00000371357.1_Silent_p.G1242G	p.G437G			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	26	3880	+	all_cancers(76;0.166)		1241					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1311G>A	CCDS59522.1																																																																																				0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	17	0	0	0	1	0	9	17				
LRP10	26020	broad.mit.edu	37	14	23344600	23344600	+	Missense_Mutation	SNP	T	T	C	rs577074841		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:23344600T>C	ENST00000359591.4	+	5	1134	c.443T>C	c.(442-444)cTg>cCg	p.L148P	LRP10_ENST00000546834.1_Missense_Mutation_p.L148P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	148	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTTCAGTGCCTGAACCACCGC	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		22438	0.0		0.0	False		,,,				2504	0.001					ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(442-444)cTg>cCg		low density lipoprotein receptor-related protein 10							120.0	92.0	101.0					14																	23344600		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344600T>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.443T>C	14.37:g.23344600T>C	ENSP00000352601:p.Leu148Pro					LRP10_ENST00000546834.1_Missense_Mutation_p.L148P	p.L148P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1134	+	all_cancers(95;4.69e-05)		148			LDL-receptor class A 1.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.443T>C	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	T	9.528	1.110159	0.20714	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.95307	-3.67;-3.67	5.97	4.84	0.62591	.	0.450164	0.22792	N	0.055595	D	0.87565	0.6209	N	0.17564	0.495	0.80722	D	1	B	0.18461	0.028	B	0.21546	0.035	T	0.82500	-0.0426	10	0.33141	T	0.24	-9.0737	8.0156	0.30379	0.0:0.0884:0.0:0.9116	.	148	Q7Z4F1	LRP10_HUMAN	P	148	ENSP00000352601:L148P;ENSP00000447559:L148P	ENSP00000352601:L148P	L	+	2	0	LRP10	22414440	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.055000	0.41345	2.288000	0.76882	0.533000	0.62120	CTG		0.592	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			4	131	0	0	0	1	0	4	131				
NAV3	89795	broad.mit.edu	37	12	78415595	78415595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:78415595A>G	ENST00000397909.2	+	9	2149	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	NAV3_ENST00000266692.7_Missense_Mutation_p.D659G|NAV3_ENST00000228327.6_Missense_Mutation_p.D659G|NAV3_ENST00000536525.2_Missense_Mutation_p.D659G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	659						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAAGATGGACTTATCATAT	0.418										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1975-1977)gAc>gGc		neuron navigator 3							106.0	108.0	107.0					12																	78415595		2022	4208	6230	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415595A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1976A>G	12.37:g.78415595A>G	ENSP00000381007:p.Asp659Gly	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.D659G|NAV3_ENST00000228327.6_Missense_Mutation_p.D659G|NAV3_ENST00000266692.7_Missense_Mutation_p.D659G	p.D659G			Q8IVL0	NAV3_HUMAN			9	2149	+			659					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1976A>G		.	.	.	.	.	.	.	.	.	.	A	17.60	3.429796	0.62844	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	5.46	5.46	0.80206	.	0.000000	0.41294	U	0.000907	T	0.18882	0.0453	L	0.52573	1.65	0.80722	D	1	D;P	0.53151	0.958;0.728	P;B	0.45276	0.475;0.366	T	0.00809	-1.1557	10	0.66056	D	0.02	-11.6111	15.5544	0.76180	1.0:0.0:0.0:0.0	.	659;659	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	G	659	ENSP00000446628:D659G;ENSP00000446132:D659G;ENSP00000381007:D659G;ENSP00000228327:D659G;ENSP00000266692:D659G	ENSP00000228327:D659G	D	+	2	0	NAV3	76939726	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.720000	0.84759	2.083000	0.62718	0.533000	0.62120	GAC		0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		39	53	0	0	0	1	0	39	53				
KMT2C	58508	broad.mit.edu	37	7	151932981	151932981	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:151932981C>T	ENST00000262189.6	-	16	2908	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R897Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	897					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCCTGCACCTCGAGGTCTCCG	0.488																																						ENST00000355193.2																			0											c.(2689-2691)cGa>cAa		lysine (K)-specific methyltransferase 2C							34.0	35.0	35.0					7																	151932981		2203	4294	6497	SO:0001583	missense	58508							g.chr7:151932981C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2690G>A	7.37:g.151932981C>T	ENSP00000262189:p.Arg897Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.R897Q	p.R897Q							16	2908	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2690G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692300	0.88735	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.90261	-2.62;-2.64	5.1	5.1	0.69264	.	0.000000	0.45867	D	0.000326	D	0.94285	0.8164	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94521	0.7727	10	0.62326	D	0.03	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	897	Q8NEZ4	MLL3_HUMAN	Q	897	ENSP00000262189:R897Q;ENSP00000347325:R897Q	ENSP00000262189:R897Q	R	-	2	0	MLL3	151563914	1.000000	0.71417	0.975000	0.42487	0.934000	0.57294	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGA		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	103	0	0	0	1	0	4	103				
NCSTN	23385	broad.mit.edu	37	1	160321849	160321851	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:160321849_160321851delTAG	ENST00000294785.5	+	8	974_976	c.849_851delTAG	c.(847-852)gatagt>gat	p.S284del	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_In_Frame_Del_p.S264del|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368063.1_In_Frame_Del_p.S264del|NCSTN_ENST00000368065.4_In_Frame_Del_p.S26del	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	284					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTAGCTGGATAGTCGTTCCTTT	0.488																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(787-792)gat>ga		nicastrin																																				SO:0001651	inframe_deletion	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160321849_160321851delTAG	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.849_851delTAG	1.37:g.160321849_160321851delTAG	ENSP00000294785:p.Ser284del					NCSTN_ENST00000392212.4_In_Frame_Del_p.DS263del|NCSTN_ENST00000368065.4_In_Frame_Del_p.DS25del|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000294785.5_In_Frame_Del_p.DS283del|NCSTN_ENST00000459963.1_3'UTR	p.DS263del			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1069_1071	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		283					Q5T207|Q5T208|Q86VV5	In_Frame_Del	DEL	ENST00000294785.5	37	c.789_791delTAG	CCDS1203.1																																																																																				0.488	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		23	73						23	73	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175957522	175957523	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:175957522_175957523delCA	ENST00000367669.3	-	17	2387_2388	c.1873_1874delTG	c.(1873-1875)tggfs	p.W625fs	RFWD2_ENST00000308769.8_Frame_Shift_Del_p.W601fs	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAGC	0.391																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1873-1875)gfs		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175957522_175957523delCA	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1873_1874delTG	1.37:g.175957524_175957525delCA	ENSP00000356641:p.Trp625fs					RFWD2_ENST00000308769.8_Frame_Shift_Del_p.W601fs	p.W625fs	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			17	2387_2388	-			625					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Frame_Shift_Del	DEL	ENST00000367669.3	37	c.1873_1874delTG	CCDS30944.1																																																																																				0.391	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		19	22						19	22	---	---	---	---
IL19	29949	broad.mit.edu	37	1	207010002	207010005	+	Splice_Site	DEL	GCAG	GCAG	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:207010002_207010005delGCAG	ENST00000270218.6	+	3	937		c.e3-1		IL19_ENST00000340758.2_Splice_Site	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19						apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTCCTTTCTGCAGGCATGAAGTT	0.51																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.e3-1		interleukin 19																																				SO:0001630	splice_region_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010002_207010005delGCAG	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.-2-1GCAG>-	1.37:g.207010002_207010005delGCAG						IL19_ENST00000340758.2_Splice_Site		NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	937	+								B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Splice_Site	DEL	ENST00000270218.6	37		CCDS1469.1																																																																																				0.510	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758	Intron	24	82						24	82	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860299	142860299	+	lincRNA	DEL	T	T	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:142860299delT	ENST00000447311.1	-	0	364					NR_027312.1																						taggccagtatttttttttta	0.473																																						ENST00000447311.1																			0																																																			0							g.chr6:142860299delT																													6.37:g.142860299delT								NR_027312.1						0	364	-									RNA	DEL	ENST00000447311.1	37																																																																																						0.473	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			3	5						3	5	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000424685.2_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227								reelin																																				SO:0001582	initiator_codon_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629803_103629804insGCCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC						RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	0	159_160	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Translation_Start_Site	INS	ENST00000428762.1	37		CCDS47680.1																																																																																				0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	13						6	13	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
SPPL2C	162540	broad.mit.edu	37	17	43922307	43922309	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:43922307_43922309delTCC	ENST00000329196.5	+	1	52_54	c.35_37delTCC	c.(34-39)ttcctc>ttc	p.L15del	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	15						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCCGTGGGCTTCCTCCTCCTCAT	0.626																																						ENST00000329196.5																			0											c.(34-39)ttc>t		signal peptide peptidase like 2C																																				SO:0001651	inframe_deletion	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922307_43922309delTCC		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.35_37delTCC	17.37:g.43922313_43922315delTCC	ENSP00000332488:p.Leu15del					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.FL12del	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	52_54	+			12					Q8TC67|Q8WVZ6	In_Frame_Del	DEL	ENST00000329196.5	37	c.35_37delTCC	CCDS32673.1																																																																																				0.626	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		23	66						23	66	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938084	76938085	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chrX:76938084_76938085insA	ENST00000373344.5	-	9	2877_2878	c.2663_2664insT	c.(2662-2664)ttcfs	p.F888fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F850fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	888					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGCTGAAGAGAAAGTCTCTCT	0.421			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2662-2664)ttcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938084_76938085insA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2664dupT	X.37:g.76938087_76938087dupA	ENSP00000362441:p.Phe888fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F850fs|ATRX_ENST00000480283.1_5'UTR	p.F888fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2877_2878	-			888					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.2663_2664insT	CCDS14434.1																																																																																				0.421	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		98	50						98	50	---	---	---	---
