#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
MAP3K1	4214	broad.mit.edu	37	5	56184111	56184111	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:56184111T>G	ENST00000399503.3	+	19	4316	c.4316T>G	c.(4315-4317)aTt>aGt	p.I1439S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGCTGTGCTATTATAGAAATG	0.348																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4315-4317)aTt>aGt		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							149.0	143.0	145.0					5																	56184111		1889	4121	6010	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56184111T>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4316T>G	5.37:g.56184111T>G	ENSP00000382423:p.Ile1439Ser						p.I1439S	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	19	4316	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1439			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4316T>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369018	0.82463	.	.	ENSG00000095015	ENST00000399503	T	0.25749	1.78	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053898	0.64402	D	0.000001	T	0.32615	0.0835	L	0.48986	1.54	0.54753	D	0.99998	P	0.47191	0.891	P	0.45829	0.494	T	0.07271	-1.0781	10	0.87932	D	0	.	16.1132	0.81278	0.0:0.0:0.0:1.0	.	1439	Q13233	M3K1_HUMAN	S	1439	ENSP00000382423:I1439S	ENSP00000382423:I1439S	I	+	2	0	MAP3K1	56219868	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.998000	0.76277	2.208000	0.71279	0.455000	0.32223	ATT		0.348	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		51	54	0	0	0	0.870114	0	51	54				
ADAMTS14	140766	broad.mit.edu	37	10	72511387	72511387	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:72511387A>G	ENST00000373207.1	+	17	2581	c.2581A>G	c.(2581-2583)Aag>Gag	p.K861E	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.K864E	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	861	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCCTGCAGCAAGGCCTGTGG	0.622																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2590-2592)Aag>Gag		ADAM metallopeptidase with thrombospondin type 1 motif, 14							51.0	53.0	53.0					10																	72511387		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511387A>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2581A>G	10.37:g.72511387A>G	ENSP00000362303:p.Lys861Glu					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.K861E	p.K864E	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2590	+			861			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2590A>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228815	0.79576	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61510	0.1;0.1	4.38	4.38	0.52667	.	0.060346	0.64402	D	0.000005	T	0.68118	0.2966	M	0.85373	2.75	0.45762	D	0.998653	P;P	0.45078	0.85;0.536	P;P	0.49047	0.599;0.477	T	0.70212	-0.4934	10	0.30854	T	0.27	.	13.4488	0.61158	1.0:0.0:0.0:0.0	.	861;864	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	E	864;861	ENSP00000362304:K864E;ENSP00000362303:K861E	ENSP00000362303:K861E	K	+	1	0	ADAMTS14	72181393	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.655000	0.91098	1.851000	0.53745	0.460000	0.39030	AAG		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		14	26	0	0	0	0.457914	0	14	26				
LRRK2	120892	broad.mit.edu	37	12	40757280	40757280	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:40757280A>G	ENST00000298910.7	+	48	7163	c.7105A>G	c.(7105-7107)Aat>Gat	p.N2369D		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2369					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGCTAAGCAAAATAGCCCTGT	0.358																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(7105-7107)Aat>Gat		leucine-rich repeat kinase 2							112.0	116.0	115.0					12																	40757280		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40757280A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7105A>G	12.37:g.40757280A>G	ENSP00000298910:p.Asn2369Asp						p.N2369D	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			48	7163	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2369					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7105A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	8.147	0.786612	0.16189	.	.	ENSG00000188906	ENST00000298910	T	0.33865	1.39	5.28	4.14	0.48551	WD40 repeat-like-containing domain (1);Armadillo-like helical (1);	0.203110	0.51477	D	0.000084	T	0.29620	0.0739	M	0.62723	1.935	0.27509	N	0.951732	B;B	0.32350	0.366;0.366	B;B	0.24269	0.052;0.052	T	0.16928	-1.0386	10	0.13470	T	0.59	.	10.7412	0.46154	0.924:0.0:0.076:0.0	.	2369;2369	Q17RV3;Q5S007	.;LRRK2_HUMAN	D	2369	ENSP00000298910:N2369D	ENSP00000298910:N2369D	N	+	1	0	LRRK2	39043547	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	2.767000	0.47637	0.857000	0.35407	0.383000	0.25322	AAT		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		29	59	0	0	0	0.740014	0	29	59				
MYL10	93408	broad.mit.edu	37	7	101265479	101265479	+	Splice_Site	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:101265479G>T	ENST00000223167.4	-	5	528	c.351C>A	c.(349-351)ggC>ggA	p.G117G		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	117	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CATTGATGCGGCCTGTGGGAG	0.597																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.e5-1		myosin, light chain 10, regulatory							73.0	61.0	65.0					7																	101265479		2203	4300	6503	SO:0001630	splice_region_variant	93408					mitochondrion	calcium ion binding	g.chr7:101265479G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.350-1C>A	7.37:g.101265479G>T							p.G117_splice	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			5	528	-			117			EF-hand 1.			Splice_Site	SNP	ENST00000223167.4	37	c.349_splice	CCDS34713.1																																																																																				0.597	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	Silent	13	24	1	0	3.27435e-08	0.457914	3.4976e-08	13	24				
TTN	7273	broad.mit.edu	37	2	179467028	179467028	+	Silent	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:179467028G>T	ENST00000591111.1	-	233	50402	c.50178C>A	c.(50176-50178)atC>atA	p.I16726I	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.I9302I|TTN_ENST00000342992.6_Silent_p.I15799I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I9494I|TTN_ENST00000359218.5_Silent_p.I9427I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.I18367I			Q8WZ42	TITIN_HUMAN	titin	16726	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGCAGGGATCTCCCCAG	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55099-55101)atC>atA		titin							105.0	105.0	105.0					2																	179467028		1880	4099	5979	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179467028G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50178C>A	2.37:g.179467028G>T						TTN_ENST00000460472.2_Silent_p.I9302I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I9427I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I16726I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I15799I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I9494I	p.I18367I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		283	55325	-			16726			Fibronectin type-III 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.55101C>A																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	73	1	0	0.00185496	0.435327	0.00190912	12	73				
RPAP1	26015	broad.mit.edu	37	15	41823330	41823330	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:41823330C>T	ENST00000304330.4	-	7	950	c.834G>A	c.(832-834)gaG>gaA	p.E278E	RPAP1_ENST00000561603.1_Silent_p.E278E|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	278						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCTCTGCTCCTCAGAGGCTG	0.562																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(832-834)gaG>gaA		RNA polymerase II associated protein 1							168.0	166.0	167.0					15																	41823330		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41823330C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.834G>A	15.37:g.41823330C>T						RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Silent_p.E278E	p.E278E	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	950	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	278					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.834G>A	CCDS10079.1																																																																																				0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		87	165	0	0	0	0.870114	0	87	165				
IQCH	64799	broad.mit.edu	37	15	67664907	67664907	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:67664907T>C	ENST00000335894.4	+	9	1278	c.1212T>C	c.(1210-1212)atT>atC	p.I404I	IQCH_ENST00000546225.1_Silent_p.I152I|IQCH_ENST00000358767.3_Silent_p.I231I|IQCH_ENST00000360277.4_Silent_p.I156I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	404										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGATTGCCATTGCTTGGCTGT	0.453																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1210-1212)atT>atC		IQ motif containing H							123.0	127.0	126.0					15																	67664907		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67664907T>C	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1212T>C	15.37:g.67664907T>C						IQCH_ENST00000360277.4_Silent_p.I156I|IQCH_ENST00000546225.1_Silent_p.I152I|IQCH_ENST00000358767.3_Silent_p.I231I	p.I404I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	1278	+			404					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1212T>C	CCDS32273.1																																																																																				0.453	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		6	184	0	0	0	0.248553	0	6	184				
TRMT13	54482	broad.mit.edu	37	1	100613725	100613725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:100613725C>T	ENST00000370141.2	+	10	1099	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	365					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CCATTATTTCCAGCGAATGAG	0.428																																						ENST00000370141.2																			0											c.(1093-1095)Cag>Tag		tRNA methyltransferase 13 homolog (S. cerevisiae)							107.0	100.0	102.0					1																	100613725		2203	4300	6503	SO:0001587	stop_gained	54482							g.chr1:100613725C>T	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1093C>T	1.37:g.100613725C>T	ENSP00000359160:p.Gln365*						p.Q365*	NM_019083.2	NP_061956.2					10	1099	+								Q5VVL0|Q9NW65	Nonsense_Mutation	SNP	ENST00000370141.2	37	c.1093C>T	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587687	0.86851	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.75	5.75	0.90469	.	0.132265	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4669	15.5457	0.76097	0.1386:0.8614:0.0:0.0	.	.	.	.	X	365	.	ENSP00000359160:Q365X	Q	+	1	0	CCDC76	100386313	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.954000	0.56708	2.719000	0.93026	0.655000	0.94253	CAG		0.428	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		20	71	0	0	0	0.575678	0	20	71				
ZDHHC16	84287	broad.mit.edu	37	10	99213413	99213413	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:99213413C>T	ENST00000370854.3	+	6	872	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.A228V|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A189V|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A163V|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A228V	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	228					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCTTATGCTGCCATTGAGGTG	0.507																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(682-684)gCc>gTc		zinc finger, DHHC-type containing 16							122.0	104.0	110.0					10																	99213413		2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213413C>T	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.683C>T	10.37:g.99213413C>T	ENSP00000359891:p.Ala228Val					ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A189V|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A228V|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A228V|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A163V	p.A228V	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	7	1032	+		Colorectal(252;0.0846)	228					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.683C>T	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.794266|2.794266	0.50102|0.50102	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086|ENST00000420089;ENST00000417044	T;T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82;1.82;1.82|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.051755|.	0.85682|.	D|.	0.000000|.	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.31120|0.31120	0.905|0.905	0.80722|0.80722	D|D	1|1	D;B;P;B;B;B;B|.	0.53462|.	0.96;0.027;0.955;0.097;0.022;0.02;0.027|.	P;B;P;B;B;B;B|.	0.59546|.	0.859;0.038;0.723;0.053;0.01;0.022;0.038|.	T|T	0.51387|0.51387	-0.8712|-0.8712	10|5	0.16896|.	T|.	0.51|.	-25.4196|-25.4196	20.3645|20.3645	0.98876|0.98876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	228;163;203;189;163;228;228|.	B4DNL2;E9PCL9;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1|.	.;.;.;.;.;.;ZDH16_HUMAN|.	V|S	228;228;228;189;228;163;163|204;170	ENSP00000359891:A228V;ENSP00000377357:A228V;ENSP00000345383:A228V;ENSP00000359879:A228V;ENSP00000304487:A163V;ENSP00000398532:A163V|.	ENSP00000304487:A163V|.	A|P	+|+	2|1	0|0	ZDHHC16|ZDHHC16	99203403|99203403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.453000|7.453000	0.80700|0.80700	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.507	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		25	50	0	0	0	0.654019	0	25	50				
SUPT6H	6830	broad.mit.edu	37	17	27000506	27000506	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:27000506A>C	ENST00000314616.6	+	2	370	c.87A>C	c.(85-87)aaA>aaC	p.K29N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K29N|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	29	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCACCAAGAAATTTGTGGAAG	0.493																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(85-87)aaA>aaC		suppressor of Ty 6 homolog (S. cerevisiae)							80.0	76.0	77.0					17																	27000506		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27000506A>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.87A>C	17.37:g.27000506A>C	ENSP00000319104:p.Lys29Asn					SUPT6H_ENST00000347486.4_Missense_Mutation_p.K29N	p.K29N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			2	370	+	Lung NSC(42;0.00431)		29			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.87A>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549741	0.27652	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	0.0205	0.14125	.	0.044802	0.85682	D	0.000000	T	0.22399	0.0540	N	0.08118	0	0.54753	D	0.999984	P	0.37781	0.608	B	0.31869	0.137	T	0.04915	-1.0918	9	0.45353	T	0.12	-20.4035	10.9405	0.47270	0.4794:0.0:0.5206:0.0	.	29	Q7KZ85	SPT6H_HUMAN	N	29	.	ENSP00000319104:K29N	K	+	3	2	SUPT6H	24024633	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	0.389000	0.20751	0.018000	0.15052	0.533000	0.62120	AAA		0.493	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		11	29	0	0	0	0.435327	0	11	29				
ALS2CR11	151254	broad.mit.edu	37	2	202430518	202430518	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:202430518G>A	ENST00000286195.3	-	9	955	c.911C>T	c.(910-912)gCt>gTt	p.A304V	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A304V	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	304										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGATTGCACAGCTGGAGTCCC	0.378																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(910-912)gCt>gTt		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							73.0	73.0	73.0					2																	202430518		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202430518G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.911C>T	2.37:g.202430518G>A	ENSP00000286195:p.Ala304Val					ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A304V|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.A304V	p.A304V	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			9	955	-			304					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.911C>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218683	0.58560	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.38	-2.34	0.06704	.	3.336220	0.00802	N	0.001427	T	0.33933	0.0880	L	0.50333	1.59	0.09310	N	1	B;B;P	0.43352	0.063;0.063;0.804	B;B;B	0.31869	0.037;0.025;0.137	T	0.48980	-0.8986	10	0.44086	T	0.13	.	9.8346	0.40963	0.0:0.1181:0.3036:0.5784	.	304;304;304	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	V	304	ENSP00000286195:A304V;ENSP00000400672:A304V;ENSP00000409937:A304V;ENSP00000399016:A304V	ENSP00000286195:A304V	A	-	2	0	ALS2CR11	202138763	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.160000	0.10041	-0.074000	0.12820	0.655000	0.94253	GCT		0.378	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		23	34	0	0	0	0.624587	0	23	34				
C11orf58	10944	broad.mit.edu	37	11	16774369	16774369	+	Silent	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:16774369T>A	ENST00000228136.4	+	4	624	c.246T>A	c.(244-246)tcT>tcA	p.S82S	C11orf58_ENST00000525684.1_Missense_Mutation_p.L62H|C11orf58_ENST00000422258.2_Silent_p.S38S			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	82										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AACTGGAGTCTCAATATCAGC	0.348																																						ENST00000525684.1																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						c.(184-186)cTc>cAc		chromosome 11 open reading frame 58							124.0	118.0	120.0					11																	16774369		2200	4294	6494	SO:0001819	synonymous_variant	10944							g.chr11:16774369T>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.246T>A	11.37:g.16774369T>A						C11orf58_ENST00000228136.4_Silent_p.S82S|C11orf58_ENST00000422258.2_Silent_p.S38S	p.L62H			O00193	SMAP_HUMAN			3	306	+			0					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.185T>A	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386223	0.25031	.	.	ENSG00000110696	ENST00000525684	.	.	.	5.57	1.74	0.24563	.	.	.	.	.	T	0.58466	0.2124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58411	-0.7641	5	0.59425	D	0.04	.	5.4834	0.16737	0.0:0.1384:0.2831:0.5785	.	.	.	.	H	62	.	ENSP00000432534:L62H	L	+	2	0	C11orf58	16730945	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.984000	0.29565	0.902000	0.36520	0.533000	0.62120	CTC		0.348	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		27	50	0	0	0	0.740014	0	27	50				
MOS	4342	broad.mit.edu	37	8	57025710	57025710	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr8:57025710G>A	ENST00000311923.1	-	1	831	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCGAATACGGCGCCTGCTTG	0.637																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(832-834)Ccg>Tcg		v-mos Moloney murine sarcoma viral oncogene homolog							47.0	46.0	46.0					8																	57025710		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025710G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.832C>T	8.37:g.57025710G>A	ENSP00000310722:p.Pro278Ser						p.P278S	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	831	-			278			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.832C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718881	0.68844	.	.	ENSG00000172680	ENST00000311923	D	0.95949	-3.86	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	278	P00540	MOS_HUMAN	S	278	ENSP00000310722:P278S	ENSP00000310722:P278S	P	-	1	0	MOS	57188264	1.000000	0.71417	0.801000	0.32222	0.127000	0.20565	9.281000	0.95811	2.758000	0.94735	0.561000	0.74099	CCG		0.637	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		4	50	0	0	0	0.150653	0	4	50				
MUC16	94025	broad.mit.edu	37	19	9076119	9076119	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:9076119A>C	ENST00000397910.4	-	3	11530	c.11327T>G	c.(11326-11328)tTg>tGg	p.L3776W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3777	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGAAGGGCAACTGTGAGGT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11326-11328)tTg>tGg		mucin 16, cell surface associated							149.0	146.0	147.0					19																	9076119		2060	4206	6266	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076119A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11327T>G	19.37:g.9076119A>C	ENSP00000381008:p.Leu3776Trp						p.L3776W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11530	-			3777			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11327T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.821	-0.472163	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.93	-1.68	0.08212	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.61697	0.99	D	0.63113	0.911	T	0.38779	-0.9645	8	0.87932	D	0	.	2.1824	0.03878	0.4255:0.0:0.3308:0.2437	.	3776	B5ME49	.	W	3776	ENSP00000381008:L3776W	ENSP00000381008:L3776W	L	-	2	0	MUC16	8937119	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.634000	0.05477	-0.626000	0.05596	-0.736000	0.03550	TTG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	100	0	0	0	0.847076	0	40	100				
ARHGAP35	2909	broad.mit.edu	37	19	47424034	47424034	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:47424034T>C	ENST00000404338.3	+	1	2102	c.2102T>C	c.(2101-2103)aTt>aCt	p.I701T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	701					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTACATTAATTTTGGTTAAC	0.443																																						ENST00000404338.3																			0											c.(2101-2103)aTt>aCt		Rho GTPase activating protein 35							35.0	33.0	34.0					19																	47424034		1945	4145	6090	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424034T>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2102T>C	19.37:g.47424034T>C	ENSP00000385720:p.Ile701Thr						p.I701T	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2102	+			701					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2102T>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691489	0.30052	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.09911	2.93	5.58	5.58	0.84498	.	0.167048	0.53938	D	0.000050	T	0.13713	0.0332	L	0.46157	1.445	0.44789	D	0.997795	P	0.44521	0.837	B	0.41666	0.363	T	0.00875	-1.1531	10	0.72032	D	0.01	-23.9775	15.0225	0.71640	0.0:0.0:0.0:1.0	.	701	Q9NRY4-2	.	T	701	ENSP00000385720:I701T	ENSP00000324820:I701T	I	+	2	0	ARHGAP35	52115874	1.000000	0.71417	0.829000	0.32907	0.450000	0.32258	6.231000	0.72307	2.248000	0.74166	0.528000	0.53228	ATT		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		10	10	0	0	0	0.335167	0	10	10				
KPNB1	3837	broad.mit.edu	37	17	45747173	45747173	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:45747173C>T	ENST00000290158.4	+	11	1761	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	KPNB1_ENST00000537679.1_Silent_p.L236L|KPNB1_ENST00000535458.2_Silent_p.L307L|KPNB1_ENST00000540627.1_Silent_p.L307L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	452					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTGGCTCCCCTGCTACAGTG	0.502																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1354-1356)Ctg>Ttg		karyopherin (importin) beta 1							185.0	161.0	170.0					17																	45747173		2203	4300	6503	SO:0001819	synonymous_variant	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45747173C>T	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1354C>T	17.37:g.45747173C>T						KPNB1_ENST00000537679.1_Silent_p.L236L|KPNB1_ENST00000540627.1_Silent_p.L307L|KPNB1_ENST00000535458.2_Silent_p.L307L	p.L452L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			11	1761	+			452					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Silent	SNP	ENST00000290158.4	37	c.1354C>T	CCDS11513.1																																																																																				0.502	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		50	74	0	0	0	0.870114	0	50	74				
BCL9	607	broad.mit.edu	37	1	147092835	147092835	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:147092835C>T	ENST00000234739.3	+	8	3614	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	958	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCATGGCCTCCCCAGCCATGC	0.527			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2872-2874)tcC>tcT		B-cell CLL/lymphoma 9							51.0	51.0	51.0					1																	147092835		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092835C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2874C>T	1.37:g.147092835C>T							p.S958S	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3614	+	all_hematologic(923;0.115)		958			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2874C>T	CCDS30833.1																																																																																				0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		10	52	0	0	0	0.411799	0	10	52				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	75	0	0	0	0.411799	0	5	75				
CSRNP2	81566	broad.mit.edu	37	12	51467805	51467805	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:51467805A>T	ENST00000228515.1	-	3	509	c.212T>A	c.(211-213)gTg>gAg	p.V71E	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	71					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATACAGTCACCTGGTCAAA	0.532																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(211-213)gTg>gAg		cysteine-serine-rich nuclear protein 2							86.0	89.0	88.0					12																	51467805		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467805A>T	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.212T>A	12.37:g.51467805A>T	ENSP00000228515:p.Val71Glu						p.V71E	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	509	-			71						Missense_Mutation	SNP	ENST00000228515.1	37	c.212T>A	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864565	0.91511	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899	T;T	0.14766	2.48;2.48	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52480	-0.8570	10	0.87932	D	0	-19.4071	14.108	0.65104	1.0:0.0:0.0:0.0	.	71	Q9H175	CSRN2_HUMAN	E	71	ENSP00000228515:V71E;ENSP00000447657:V71E	ENSP00000228515:V71E	V	-	2	0	CSRNP2	49754072	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.029000	0.93718	2.223000	0.72356	0.533000	0.62120	GTG		0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			37	76	0	0	0	0.819951	0	37	76				
EEA1	8411	broad.mit.edu	37	12	93192829	93192829	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:93192829T>C	ENST00000322349.8	-	21	3070	c.2806A>G	c.(2806-2808)Atg>Gtg	p.M936V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	936					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTTCCTGCATTGAATTGAGT	0.333																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2806-2808)Atg>Gtg		early endosome antigen 1							76.0	66.0	69.0					12																	93192829		2203	4299	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93192829T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2806A>G	12.37:g.93192829T>C	ENSP00000317955:p.Met936Val						p.M936V	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			21	3070	-			936					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.2806A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	0.146	-1.097258	0.01843	.	.	ENSG00000102189	ENST00000322349	T	0.62105	0.05	5.38	-3.68	0.04463	.	0.790188	0.10884	N	0.623512	T	0.28632	0.0709	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.27082	T	0.32	.	6.7015	0.23227	0.1335:0.4783:0.0:0.3882	.	936	Q15075	EEA1_HUMAN	V	936	ENSP00000317955:M936V	ENSP00000317955:M936V	M	-	1	0	EEA1	91716960	0.001000	0.12720	0.654000	0.29608	0.419000	0.31324	-1.138000	0.03216	-0.247000	0.09597	-0.353000	0.07706	ATG		0.333	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		8	37	0	0	0	0.335167	0	8	37				
SYNE1	23345	broad.mit.edu	37	6	152557402	152557402	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:152557402A>C	ENST00000367255.5	-	110	20837	c.20236T>G	c.(20236-20238)Tta>Gta	p.L6746V	SYNE1_ENST00000356820.4_Missense_Mutation_p.L1270V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6358V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6746V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6746					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGATATAATTTGGGCTGG	0.313										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20236-20238)Tta>Gta		spectrin repeat containing, nuclear envelope 1							94.0	91.0	92.0					6																	152557402		2202	4300	6502	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152557402A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20236T>G	6.37:g.152557402A>C	ENSP00000356224:p.Leu6746Val	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1270V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6675V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6746V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6358V	p.L6746V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	110	20837	-		Ovarian(120;0.0955)	6746					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20236T>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578896	0.65878	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.76	2.06	0.26882	.	0.000000	0.46145	D	0.000305	T	0.41880	0.1178	M	0.69185	2.1	0.45690	D	0.998603	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.39643	-0.9604	10	0.72032	D	0.01	.	8.9744	0.35926	0.6273:0.0:0.3727:0.0	.	6746;6746;6675	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6746;6675;6746;6675;6358;1270	ENSP00000356224:L6746V;ENSP00000396024:L6675V;ENSP00000265368:L6746V;ENSP00000390975:L6675V;ENSP00000341887:L6358V;ENSP00000349276:L1270V	ENSP00000265368:L6746V	L	-	1	2	SYNE1	152599095	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.356000	0.34079	0.118000	0.18165	0.533000	0.62120	TTA		0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	54	0	0	0	0.729181	0	31	54				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	70	0	0	0	0.248553	0	6	70				
CDR1	1038	broad.mit.edu	37	X	139866077	139866077	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:139866077C>T	ENST00000370532.2	-	1	646	c.455G>A	c.(454-456)aGa>aAa	p.R152K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	152	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCTGAAAATCTACGTCTTCC	0.443																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(454-456)aGa>aAa		cerebellar degeneration-related protein 1, 34kDa							129.0	135.0	133.0					X																	139866077		2202	4300	6502	SO:0001583	missense	1038							g.chrX:139866077C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.455G>A	X.37:g.139866077C>T	ENSP00000359563:p.Arg152Lys						p.R152K	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	646	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	152			6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.455G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574350	0.45902	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.48	-1.37	0.09056	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.26416	0.069	T	0.25779	-1.0122	7	.	.	.	.	8.5906	0.33686	0.2698:0.3405:0.3896:0.0	.	152	P51861	CDR1_HUMAN	K	152	.	.	R	-	2	0	CDR1	139693743	0.164000	0.22935	0.000000	0.03702	0.341000	0.28922	2.412000	0.44609	-0.563000	0.06078	0.422000	0.28245	AGA		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		107	198	0	0	0	0.870114	0	107	198				
ARMC4	55130	broad.mit.edu	37	10	28149666	28149666	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:28149666C>G	ENST00000305242.5	-	19	3001	c.2909G>C	c.(2908-2910)cGt>cCt	p.R970P	ARMC4_ENST00000537576.1_Missense_Mutation_p.R662P|ARMC4_ENST00000545014.1_Missense_Mutation_p.R495P	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	970					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R970H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTCAGATAACGCACTAGTGG	0.488																																						ENST00000305242.5																			1	Substitution - Missense(1)	p.R970H(1)	endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2908-2910)cGt>cCt		armadillo repeat containing 4							202.0	161.0	175.0					10																	28149666		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28149666C>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2909G>C	10.37:g.28149666C>G	ENSP00000306410:p.Arg970Pro					ARMC4_ENST00000537576.1_Missense_Mutation_p.R662P|ARMC4_ENST00000545014.1_Missense_Mutation_p.R495P	p.R970P	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			19	3001	-			970					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2909G>C	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858636	0.51376	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93859	-3.3;-3.3;-0.16	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.319350	0.30085	N	0.010443	D	0.94450	0.8214	M	0.63428	1.95	0.80722	D	1	P;D	0.57899	0.896;0.981	P;P	0.57846	0.677;0.828	D	0.93530	0.6869	10	0.48119	T	0.1	-21.4549	11.1538	0.48476	0.0:0.8567:0.0:0.1433	.	495;970	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	P	662;970;495	ENSP00000443208:R662P;ENSP00000306410:R970P;ENSP00000441076:R495P	ENSP00000306410:R970P	R	-	2	0	ARMC4	28189672	0.395000	0.25254	0.995000	0.50966	0.464000	0.32679	0.887000	0.28254	2.711000	0.92665	0.655000	0.94253	CGT		0.488	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		27	59	0	0	0	0.706142	0	27	59				
TMED2	10959	broad.mit.edu	37	12	124069310	124069310	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:124069310A>G	ENST00000262225.3	+	1	233	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	43	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		GGGCACCAAGATGGGCCTCAT	0.647																																						ENST00000262225.3																			0				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7						c.(127-129)Atg>Gtg		transmembrane emp24 domain trafficking protein 2							64.0	61.0	62.0					12																	124069310		2203	4300	6503	SO:0001583	missense	10959				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding	g.chr12:124069310A>G	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.127A>G	12.37:g.124069310A>G	ENSP00000262225:p.Met43Val					RP11-486O12.2_ENST00000498967.2_lincRNA	p.M43V	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)	1	233	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		43			GOLD.			Missense_Mutation	SNP	ENST00000262225.3	37	c.127A>G	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433926	0.62955	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000541504	T;T	0.13196	2.61;2.61	4.29	4.29	0.51040	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	L	0.41492	1.28	0.80722	D	1	B	0.20368	0.044	B	0.24974	0.057	T	0.03957	-1.0989	10	0.02654	T	1	-9.9869	13.8668	0.63594	1.0:0.0:0.0:0.0	.	43	Q15363	TMED2_HUMAN	V	43	ENSP00000262225:M43V;ENSP00000405845:M43V	ENSP00000262225:M43V	M	+	1	0	TMED2	122635263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.920000	0.55613	0.482000	0.46254	ATG		0.647	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		26	49	0	0	0	0.717897	0	26	49				
DENND5A	23258	broad.mit.edu	37	11	9228258	9228258	+	Missense_Mutation	SNP	C	C	T	rs375955901		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:9228258C>T	ENST00000328194.3	-	3	573	c.253G>A	c.(253-255)Gta>Ata	p.V85I	DENND5A_ENST00000530044.1_Missense_Mutation_p.V85I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	85	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V85L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCATTCTACGTTCTCAGGA	0.348																																						ENST00000328194.3																			1	Substitution - Missense(1)	p.V85L(1)	lung(1)	breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(253-255)Gta>Ata		DENN/MADD domain containing 5A							209.0	191.0	197.0					11																	9228258		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9228258C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.253G>A	11.37:g.9228258C>T	ENSP00000328524:p.Val85Ile					DENND5A_ENST00000530044.1_Missense_Mutation_p.V85I	p.V85I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			3	573	-			85			UDENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.253G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022785	0.54683	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.43294	0.95;0.95	5.5	5.5	0.81552	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.21194	0.64	0.80722	D	1	B;B	0.31519	0.327;0.025	B;B	0.24394	0.053;0.053	T	0.08848	-1.0702	10	0.12103	T	0.63	.	19.4004	0.94627	0.0:1.0:0.0:0.0	.	85;85	E9PS91;Q6IQ26	.;DEN5A_HUMAN	I	85	ENSP00000328524:V85I;ENSP00000435866:V85I	ENSP00000328524:V85I	V	-	1	0	DENND5A	9184834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.577000	0.86979	0.655000	0.94253	GTA		0.348	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		58	130	0	0	0	0.870114	0	58	130				
DNMT3B	1789	broad.mit.edu	37	20	31383331	31383331	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:31383331C>A	ENST00000328111.2	+	11	1564	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000375623.4_Silent_p.I304I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	415					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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATGAAGATCAGAGCCGAGG	0.557																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1243-1245)Cag>Aag		DNA (cytosine-5-)-methyltransferase 3 beta							94.0	108.0	103.0					20																	31383331		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31383331C>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1243C>A	20.37:g.31383331C>A	ENSP00000328547:p.Gln415Lys					DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q353K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q407K|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q319K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q395K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q395K|DNMT3B_ENST00000375623.4_Silent_p.I304I	p.Q415K	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			11	1564	+			415					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1243C>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954536	0.34471	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.29	4.33	0.51752	.	0.622767	0.17322	N	0.178441	D	0.94162	0.8127	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.001;0.009;0.002;0.016;0.001;0.016;0.002	B;B;B;B;B;B;B	0.19666	0.003;0.007;0.004;0.026;0.004;0.026;0.003	D	0.91313	0.5076	10	0.30854	T	0.27	-12.5215	13.0264	0.58817	0.0:0.8312:0.1688:0.0	.	319;353;114;407;395;395;415	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	K	415;481;395;395;353;319;395;407	ENSP00000328547:Q415K;ENSP00000313397:Q395K;ENSP00000337764:Q395K;ENSP00000403169:Q353K;ENSP00000412305:Q319K;ENSP00000345105:Q395K;ENSP00000201963:Q407K	ENSP00000201963:Q407K	Q	+	1	0	DNMT3B	30846992	0.986000	0.35501	0.994000	0.49952	0.562000	0.35680	2.506000	0.45433	1.357000	0.45904	0.650000	0.86243	CAG		0.557	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		10	36	1	0	3.86212e-05	0.361761	4.06387e-05	10	36				
CATSPERG	57828	broad.mit.edu	37	19	38857909	38857909	+	Silent	SNP	C	C	T	rs144017491	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:38857909C>T	ENST00000409235.3	+	23	2842	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.C869C	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	909					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACTTTGACTGCGTTAACGTGA	0.567													c|||	2	0.000399361	0.0	0.0029	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.0					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2725-2727)tgC>tgT		catsper channel auxiliary subunit gamma		T		0,4406		0,0,2203	135.0	105.0	115.0		2727	-1.0	0.0	19	dbSNP_134	115	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	CATSPERG	NM_021185.4		0,17,6486	TT,TC,CC		0.1977,0.0,0.1307		909/1160	38857909	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38857909C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2727C>T	19.37:g.38857909C>T						CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.C869C	p.C909C	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			23	2842	+			909					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2727C>T	CCDS12514.2																																																																																				0.567	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		11	23	0	0	0	0.361761	0	11	23				
C12orf54	121273	broad.mit.edu	37	12	48888763	48888763	+	Splice_Site	SNP	A	A	G	rs2705132	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:48888763A>G	ENST00000548364.1	+	7	481		c.e7+1		C12orf54_ENST00000314014.2_Splice_Site|RP11-722P11.4_ENST00000551847.1_RNA			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						CTTCCGCCAGATGCTTTACCC	0.542													G|||	4459	0.890375	0.6021	0.9683	5008	,	,		21205	1.0		0.999	False		,,,				2504	1.0					ENST00000314014.2																			0				endometrium(1)|large_intestine(4)	5						c.e8+1		chromosome 12 open reading frame 54				2845,1561	489.2+/-361.4	920,1005,278	94.0	78.0	83.0			0.3	0.0	12	dbSNP_100	83	8589,11	5.0+/-18.6	4289,11,0	yes	splice-5	C12orf54	NM_152319.3		5209,1016,278	GG,GA,AA		0.1279,35.429,12.0867			48888763	11434,1572	2203	4300	6503	SO:0001630	splice_region_variant	121273							g.chr12:48888763A>G	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.381+1A>G	12.37:g.48888763A>G						C12orf54_ENST00000548364.1_Splice_Site|RP11-722P11.4_ENST00000551847.1_RNA		NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN			8	555	+								Q6X4S9|Q8N5S2	Splice_Site	SNP	ENST00000548364.1	37		CCDS8764.1																																																																																				0.542	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319	Intron	3	63	0	0	0	0.115264	0	3	63				
BAI3	577	broad.mit.edu	37	6	70071056	70071056	+	Silent	SNP	C	C	A	rs367545953		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:70071056C>A	ENST00000370598.1	+	29	4712	c.3891C>A	c.(3889-3891)gtC>gtA	p.V1297V	BAI3_ENST00000238918.8_Silent_p.V503V|BAI3_ENST00000546190.1_Silent_p.V261V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1297					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGACATAGTCCATCCTCAAG	0.368																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3889-3891)gtC>gtA		brain-specific angiogenesis inhibitor 3							72.0	70.0	71.0					6																	70071056		2203	4298	6501	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071056C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3891C>A	6.37:g.70071056C>A						BAI3_ENST00000546190.1_Silent_p.V261V|BAI3_ENST00000238918.8_Silent_p.V503V	p.V1297V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4712	+		all_lung(197;0.212)	1297					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3891C>A	CCDS4968.1																																																																																				0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			13	50	1	0	4.3838e-07	0.435327	4.64749e-07	13	50				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472946	22472946	+	RNA	SNP	C	C	A	rs552821433	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:22472946C>A	ENST00000557788.2	-	0	324							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											ACGGCCCTGTCCGCGGCGGTC	0.602																																						ENST00000557788.2																			0																																																			28317							g.chr15:22472946C>A	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22472946C>A														0	324	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.602	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			57	498	1	0	3.30226e-22	0.870114	3.81655e-22	57	498				
CNDP1	84735	broad.mit.edu	37	18	72247364	72247364	+	Splice_Site	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr18:72247364A>G	ENST00000358821.3	+	10	1395		c.e10-1		CNDP1_ENST00000582365.1_Splice_Site	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GTCACCTTTTAGGTGACACGA	0.348																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.e9-1		carnosine dipeptidase 1 (metallopeptidase M20 family)							72.0	67.0	69.0					18																	72247364		2203	4300	6503	SO:0001630	splice_region_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247364A>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1168-1A>G	18.37:g.72247364A>G						CNDP1_ENST00000358821.3_Splice_Site				Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1104	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)						Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Splice_Site	SNP	ENST00000358821.3	37		CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608769	0.28623	.	.	ENSG00000150656	ENST00000358821	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7864	0.63112	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNDP1	70398344	1.000000	0.71417	0.879000	0.34478	0.139000	0.21198	7.737000	0.84957	1.899000	0.54978	0.460000	0.39030	.		0.348	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	Intron	6	17	0	0	0	0.248553	0	6	17				
AKAP9	10142	broad.mit.edu	37	7	91722412	91722412	+	Splice_Site	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:91722412A>G	ENST00000359028.2	+	39	9597	c.9372A>G	c.(9370-9372)gaA>gaG	p.E3124E	AKAP9_ENST00000356239.3_Splice_Site_p.E3120E|AKAP9_ENST00000358100.2_Splice_Site_p.E3070E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3124					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTGTAGAACTCTTGGAAT	0.358			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e39-1		A kinase (PRKA) anchor protein 9							35.0	38.0	37.0					7																	91722412		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91722412A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9371-1A>G	7.37:g.91722412A>G						AKAP9_ENST00000356239.3_Splice_Site_p.E3120_splice|AKAP9_ENST00000358100.2_Splice_Site_p.E3070_splice	p.E3124_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		39	9597	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3124					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.9370_splice																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Silent	17	34	0	0	0	0.520397	0	17	34				
C6	729	broad.mit.edu	37	5	41186209	41186209	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:41186209T>G	ENST00000263413.3	-	6	953	c.689A>C	c.(688-690)tAc>tCc	p.Y230S	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.Y230S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	230	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGGAACACGGTATGGATTACT	0.438																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(688-690)tAc>tCc		complement component 6							137.0	125.0	129.0					5																	41186209		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186209T>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.689A>C	5.37:g.41186209T>G	ENSP00000263413:p.Tyr230Ser					C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.Y230S	p.Y230S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			6	953	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	230			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.689A>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.917153	0.73098	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63913	-0.07;-0.07	5.99	4.81	0.61882	Membrane attack complex component/perforin (MACPF) domain (1);	0.165890	0.56097	D	0.000036	T	0.75250	0.3824	M	0.83483	2.645	0.45354	D	0.998345	D	0.58620	0.983	P	0.56823	0.807	T	0.78094	-0.2338	10	0.72032	D	0.01	-6.9676	11.1527	0.48469	0.245:0.0:0.0:0.755	.	230	P13671	CO6_HUMAN	S	230	ENSP00000338861:Y230S;ENSP00000263413:Y230S	ENSP00000263413:Y230S	Y	-	2	0	C6	41221966	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	1.471000	0.35365	1.048000	0.40298	0.533000	0.62120	TAC		0.438	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			36	47	0	0	0	0.788014	0	36	47				
THOP1	7064	broad.mit.edu	37	19	2794798	2794798	+	Missense_Mutation	SNP	C	C	T	rs200973060		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:2794798C>T	ENST00000307741.6	+	3	469	c.266C>T	c.(265-267)tCc>tTc	p.S89F	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	89					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCATGTTTCCCCCTCCAAG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17221	0.0		0.0	False		,,,				2504	0.0					ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(265-267)tCc>tTc		thimet oligopeptidase 1							161.0	161.0	161.0					19																	2794798		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794798C>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.266C>T	19.37:g.2794798C>T	ENSP00000304467:p.Ser89Phe						p.S89F	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	469	+			89					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.266C>T	CCDS12095.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.94	2.982257	0.53827	.	.	ENSG00000172009	ENST00000307741	T	0.08282	3.11	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.85041	2.73	0.80722	D	1	D	0.65815	0.995	P	0.57720	0.826	T	0.07366	-1.0776	10	0.59425	D	0.04	-30.0954	17.405	0.87471	0.0:1.0:0.0:0.0	.	89	P52888	THOP1_HUMAN	F	89	ENSP00000304467:S89F	ENSP00000304467:S89F	S	+	2	0	THOP1	2745798	1.000000	0.71417	0.056000	0.19401	0.140000	0.21249	7.121000	0.77160	2.451000	0.82905	0.561000	0.74099	TCC		0.557	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			65	119	0	0	0	0.870114	0	65	119				
GK	2710	broad.mit.edu	37	X	30738149	30738149	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:30738149G>A	ENST00000378943.3	+	15	1334	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	GK_ENST00000378946.3_Silent_p.Q391Q|GK_ENST00000378945.3_Silent_p.Q385Q|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.Q186Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	391					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GACTCACTCAGTTCACCAATA	0.333																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(1153-1155)caG>caA		glycerol kinase							112.0	94.0	100.0					X																	30738149		2202	4300	6502	SO:0001819	synonymous_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30738149G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1155G>A	X.37:g.30738149G>A						GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Silent_p.Q186Q|GK_ENST00000378945.3_Silent_p.Q385Q|GK_ENST00000378946.3_Silent_p.Q391Q|RP11-242C19.2_ENST00000497961.1_RNA	p.Q385Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			15	1334	+			391					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378943.3	37	c.1155G>A	CCDS48090.1																																																																																				0.333	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		5	98	0	0	0	0.184627	0	5	98				
NEURL4	84461	broad.mit.edu	37	17	7228990	7228990	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:7228990G>T	ENST00000399464.2	-	7	1351	c.1336C>A	c.(1336-1338)Cta>Ata	p.L446I	NEURL4_ENST00000315614.7_Missense_Mutation_p.L446I|NEURL4_ENST00000570460.1_Missense_Mutation_p.L424I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	446	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGAAGTGTAGGGCAGAGTTG	0.567																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1336-1338)Cta>Ata		neuralized E3 ubiquitin protein ligase 4							122.0	124.0	123.0					17																	7228990		1910	4116	6026	SO:0001583	missense	84461							g.chr17:7228990G>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1336C>A	17.37:g.7228990G>T	ENSP00000382390:p.Leu446Ile					NEURL4_ENST00000315614.7_Missense_Mutation_p.L446I|NEURL4_ENST00000570460.1_Missense_Mutation_p.L424I	p.L446I	NM_032442.2	NP_115818.2					7	1351	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1336C>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942320	0.92526	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.45276	0.95;0.9	5.2	4.24	0.50183	NEUZ (1);	0.000000	0.64402	D	0.000003	T	0.62356	0.2421	M	0.75884	2.315	0.43199	D	0.995049	D;D	0.71674	0.998;0.998	D;D	0.91635	0.999;0.996	T	0.66264	-0.5967	10	0.72032	D	0.01	-10.7193	11.5139	0.50509	0.0861:0.0:0.9139:0.0	.	446;446	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	446	ENSP00000319826:L446I;ENSP00000382390:L446I	ENSP00000319826:L446I	L	-	1	2	NEURL4	7169714	1.000000	0.71417	0.933000	0.37362	0.960000	0.62799	3.404000	0.52623	1.447000	0.47661	0.655000	0.94253	CTA		0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		27	79	1	0	4.02929e-09	0.750413	4.37023e-09	27	79				
DIAPH1	1729	broad.mit.edu	37	5	140896574	140896574	+	Splice_Site	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:140896574G>T	ENST00000398557.4	-	28	3803	c.3663C>A	c.(3661-3663)gcC>gcA	p.A1221A	DIAPH1_ENST00000389057.5_Splice_Site_p.A1212A|DIAPH1_ENST00000398562.2_Splice_Site_p.A1197A|DIAPH1_ENST00000389054.3_Splice_Site_p.A1218A|DIAPH1_ENST00000253811.6_Splice_Site_p.A1222A|DIAPH1_ENST00000520569.1_Splice_Site_p.A1164A|DIAPH1_ENST00000518047.1_Splice_Site_p.A1209A|DIAPH1_ENST00000398566.3_Splice_Site_p.A1213A	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1221	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTGTTGGCTGCAAGAG	0.498																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e28-1		diaphanous-related formin 1							58.0	56.0	56.0					5																	140896574		2003	4171	6174	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140896574G>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3662-1C>A	5.37:g.140896574G>T						DIAPH1_ENST00000398562.2_Splice_Site_p.A1197_splice|DIAPH1_ENST00000520569.1_Splice_Site_p.A1164_splice|DIAPH1_ENST00000518047.1_Splice_Site_p.A1209_splice|DIAPH1_ENST00000398557.4_Splice_Site_p.A1221_splice|DIAPH1_ENST00000398566.3_Splice_Site_p.A1213_splice|DIAPH1_ENST00000389054.3_Splice_Site_p.A1218_splice|DIAPH1_ENST00000389057.5_Splice_Site_p.A1212_splice	p.A1222_splice			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	3806	-			1221			DAD.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37	c.3664_splice	CCDS43374.1																																																																																				0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Silent	12	20	1	0	7.03913e-09	0.411799	7.57646e-09	12	20				
MTOR	2475	broad.mit.edu	37	1	11174411	11174411	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:11174411C>T	ENST00000361445.4	-	53	7340	c.7264G>A	c.(7264-7266)Gtc>Atc	p.V2422I	MTOR_ENST00000376838.1_Missense_Mutation_p.V627I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2422	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGGTCATAGACAAAGGCTTCC	0.527																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7264-7266)Gtc>Atc		mechanistic target of rapamycin (serine/threonine kinase)							151.0	126.0	135.0					1																	11174411		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11174411C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7264G>A	1.37:g.11174411C>T	ENSP00000354558:p.Val2422Ile					MTOR_ENST00000376838.1_Missense_Mutation_p.V627I	p.V2422I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			53	7340	-			2422			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7264G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014400	0.93404	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.76709	-1.04;-1.04;-1.04	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77054	-0.2730	10	0.20046	T	0.44	-18.7967	19.2499	0.93919	0.0:1.0:0.0:0.0	.	2422	P42345	MTOR_HUMAN	I	2422;627;78	ENSP00000354558:V2422I;ENSP00000366034:V627I;ENSP00000398745:V78I	ENSP00000354558:V2422I	V	-	1	0	MTOR	11096998	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GTC		0.527	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		31	51	0	0	0	0.779181	0	31	51				
RARG	5916	broad.mit.edu	37	12	53621180	53621180	+	Silent	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:53621180G>C	ENST00000425354.2	-	3	637	c.150C>G	c.(148-150)ggC>ggG	p.G50G	RARG_ENST00000394426.1_Silent_p.G50G|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	50	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCAGGCTGGCCCAGGCCCC	0.607																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(148-150)ggC>ggG		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						51.0	55.0	54.0					12																	53621180		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53621180G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.150C>G	12.37:g.53621180G>C						RARG_ENST00000543762.1_Intron|RARG_ENST00000394426.1_Silent_p.G50G|RARG_ENST00000327550.3_Intron	p.G50G	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			3	637	-			50			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.150C>G	CCDS8850.1																																																																																				0.607	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		26	48	0	0	0	0.717897	0	26	48				
TBXAS1	6916	broad.mit.edu	37	7	139611072	139611072	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:139611072G>A	ENST00000455353.1	+	4	422	c.285G>A	c.(283-285)atG>atA	p.M95I	TBXAS1_ENST00000336425.5_Missense_Mutation_p.M95I|TBXAS1_ENST00000263552.6_Missense_Mutation_p.M96I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M28I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000539806.1_Missense_Mutation_p.M96I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.M96I			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	95					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGCCAGACATGATCAAGCAGG	0.393																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(286-288)atG>atA		thromboxane A synthase 1 (platelet)							270.0	241.0	251.0					7																	139611072		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139611072G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.285G>A	7.37:g.139611072G>A	ENSP00000391567:p.Met95Ile					TBXAS1_ENST00000414508.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000455353.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M28I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000539806.1_Missense_Mutation_p.M96I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.M96I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M95I|TBXAS1_ENST00000336425.5_Missense_Mutation_p.M95I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.M96I	p.M96I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			8	826	+	Melanoma(164;0.0142)		95					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.288G>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545676	0.45280	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.79	4.89	0.63831	.	0.162599	0.64402	D	0.000003	T	0.70859	0.3272	L	0.52011	1.625	0.49130	D	0.999751	B;P;D;B;P;B;B;B	0.56287	0.041;0.793;0.975;0.091;0.94;0.451;0.232;0.232	B;P;P;B;P;B;B;B	0.58660	0.089;0.683;0.843;0.07;0.546;0.38;0.07;0.07	T	0.66567	-0.5891	10	0.11485	T	0.65	.	13.8946	0.63764	0.0:0.1528:0.8472:0.0	.	96;76;96;47;28;96;96;95	B7Z6W1;B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;.;THAS_HUMAN	I	28;96;95;95;96;96;96;95;95;95;95;96	ENSP00000388736:M28I;ENSP00000263552:M96I;ENSP00000388612:M95I;ENSP00000338087:M95I;ENSP00000389414:M96I;ENSP00000392361:M96I;ENSP00000392702:M96I;ENSP00000402536:M95I;ENSP00000391567:M95I;ENSP00000411274:M95I;ENSP00000411326:M95I;ENSP00000444626:M96I	ENSP00000263552:M96I	M	+	3	0	TBXAS1	139257541	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.059000	0.64306	1.401000	0.46761	0.491000	0.48974	ATG		0.393	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			61	104	0	0	0	0.870114	0	61	104				
ASB1	51665	broad.mit.edu	37	2	239353298	239353298	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:239353298G>A	ENST00000264607.4	+	4	1057	c.810G>A	c.(808-810)tcG>tcA	p.S270S	ASB1_ENST00000409297.1_Silent_p.S169S	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	270					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AGTGGGAATCGCTGGGCCCAG	0.542																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(808-810)tcG>tcA		ankyrin repeat and SOCS box containing 1							76.0	83.0	81.0					2																	239353298		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239353298G>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.810G>A	2.37:g.239353298G>A						ASB1_ENST00000409297.1_Silent_p.S169S	p.S270S	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	4	1057	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	270					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.810G>A	CCDS33416.1																																																																																				0.542	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		30	68	0	0	0	0.760397	0	30	68				
SEMA6C	10500	broad.mit.edu	37	1	151108514	151108514	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:151108514T>A	ENST00000341697.3	-	13	2923	c.1232A>T	c.(1231-1233)cAt>cTt	p.H411L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	411	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGAGGCTGATGGGTGACAGG	0.567																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1231-1233)cAt>cTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							119.0	115.0	116.0					1																	151108514		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108514T>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1232A>T	1.37:g.151108514T>A	ENSP00000344148:p.His411Leu						p.H411L			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2923	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		411			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1232A>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038784	0.75617	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.35	4.22	0.49857	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235964	0.44097	D	0.000500	T	0.04588	0.0125	L	0.28344	0.845	0.37033	D	0.896787	B;P;P;P	0.49185	0.452;0.902;0.79;0.92	B;B;B;P	0.47603	0.216;0.415;0.219;0.551	T	0.43507	-0.9387	10	0.37606	T	0.19	.	9.4082	0.38475	0.0:0.085:0.0:0.915	.	411;371;411;411	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	411;371;411;411	ENSP00000357910:H411L;ENSP00000357908:H371L;ENSP00000357909:H411L;ENSP00000344148:H411L	ENSP00000344148:H411L	H	-	2	0	SEMA6C	149375138	0.958000	0.32768	1.000000	0.80357	0.975000	0.68041	1.701000	0.37825	0.880000	0.35969	0.459000	0.35465	CAT		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		25	51	0	0	0	0.693898	0	25	51				
RPA1	6117	broad.mit.edu	37	17	1782610	1782610	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:1782610G>A	ENST00000254719.5	+	10	971	c.861G>A	c.(859-861)atG>atA	p.M287I		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	287					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CTTCCGTCATGCCCTGTGAGG	0.443								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(859-861)atG>atA	Nucleotide excision repair (NER)	replication protein A1, 70kDa							110.0	103.0	106.0					17																	1782610		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782610G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.861G>A	17.37:g.1782610G>A	ENSP00000254719:p.Met287Ile						p.M287I	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			10	971	+			287					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.861G>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891071	0.33348	.	.	ENSG00000132383	ENST00000254719	T	0.39997	1.05	6.08	0.421	0.16451	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.578448	0.21006	N	0.081765	T	0.12689	0.0308	N	0.01742	-0.745	0.27085	N	0.962981	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	10	0.29301	T	0.29	-3.7747	1.7966	0.03062	0.1876:0.1041:0.3778:0.3304	.	287	P27694	RFA1_HUMAN	I	287	ENSP00000254719:M287I	ENSP00000254719:M287I	M	+	3	0	RPA1	1729360	0.904000	0.30761	0.990000	0.47175	0.938000	0.57974	0.022000	0.13511	0.114000	0.18032	0.591000	0.81541	ATG		0.443	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		25	62	0	0	0	0.667858	0	25	62				
DPEP1	1800	broad.mit.edu	37	16	89702720	89702720	+	Missense_Mutation	SNP	C	C	T	rs370798757		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:89702720C>T	ENST00000393092.3	+	4	577	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	DPEP1_ENST00000421184.1_Missense_Mutation_p.R96W|DPEP1_ENST00000261615.4_Missense_Mutation_p.R96W	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	96					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGACGCCGTGCGGAGGACGCT	0.647																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(286-288)Cgg>Tgg		dipeptidase 1 (renal)	Cilastatin(DB01597)		TRP/ARG,TRP/ARG	0,4370		0,0,2185	52.0	45.0	47.0		286,286	0.3	0.1	16		47	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	101,101	0,1,6476	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	96/412,96/412	89702720	1,12953	2185	4292	6477	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702720C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.286C>T	16.37:g.89702720C>T	ENSP00000376807:p.Arg96Trp					DPEP1_ENST00000261615.4_Missense_Mutation_p.R96W|DPEP1_ENST00000421184.1_Missense_Mutation_p.R96W	p.R96W	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	4	577	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	96					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.286C>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	c	17.86	3.493073	0.64186	0.0	1.16E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24723	1.84;1.84;1.84	5.41	0.267	0.15622	.	0.399325	0.29438	N	0.012155	T	0.57257	0.2041	M	0.93462	3.42	0.30259	N	0.793319	D	0.89917	1.0	D	0.73708	0.981	T	0.64997	-0.6275	10	0.87932	D	0	-4.3989	13.3402	0.60540	0.4436:0.5564:0.0:0.0	.	96	P16444	DPEP1_HUMAN	W	96	ENSP00000397313:R96W;ENSP00000376807:R96W;ENSP00000261615:R96W	ENSP00000261615:R96W	R	+	1	2	DPEP1	88230221	0.999000	0.42202	0.088000	0.20740	0.665000	0.39181	2.620000	0.46410	-0.227000	0.09884	-0.438000	0.05819	CGG		0.647	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		4	17	0	0	0	0.150653	0	4	17				
KIF1C	10749	broad.mit.edu	37	17	4916956	4916956	+	Silent	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:4916956C>T	ENST00000320785.5	+	17	1857	c.1500C>T	c.(1498-1500)caC>caT	p.H500H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	500					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGACTCCCCACCTGGTGAACC	0.597																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(1498-1500)caC>caT		kinesin family member 1C							68.0	55.0	59.0					17																	4916956		2203	4300	6503	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4916956C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1500C>T	17.37:g.4916956C>T							p.H500H	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			17	1857	+			500					D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.1500C>T	CCDS11065.1																																																																																				0.597	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			16	23	0	0	0	0.557998	0	16	23				
ARID5B	84159	broad.mit.edu	37	10	63851371	63851371	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:63851371A>G	ENST00000279873.7	+	10	2559	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V	ARID5B_ENST00000309334.5_Missense_Mutation_p.I474V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	717					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCCCCTTTGATCAGCAAAAA	0.552																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(2149-2151)Atc>Gtc		AT rich interactive domain 5B (MRF1-like)							83.0	85.0	85.0					10																	63851371		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851371A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2149A>G	10.37:g.63851371A>G	ENSP00000279873:p.Ile717Val					ARID5B_ENST00000309334.5_Missense_Mutation_p.I474V	p.I717V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	2559	+	Prostate(12;0.016)|all_hematologic(501;0.215)		717					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2149A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046996	0.36085	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.44083	0.94;0.93	5.87	5.87	0.94306	.	0.200162	0.51477	D	0.000089	T	0.36524	0.0970	L	0.50919	1.6	0.46044	D	0.998837	P	0.38020	0.615	B	0.29267	0.1	T	0.19582	-1.0301	10	0.39692	T	0.17	-17.7961	16.2674	0.82597	1.0:0.0:0.0:0.0	.	717	Q14865	ARI5B_HUMAN	V	717;474	ENSP00000279873:I717V;ENSP00000308862:I474V	ENSP00000279873:I717V	I	+	1	0	ARID5B	63521377	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.601000	0.74136	2.242000	0.73789	0.533000	0.62120	ATC		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		32	74	0	0	0	0.804634	0	32	74				
TTI1	9675	broad.mit.edu	37	20	36642156	36642156	+	Silent	SNP	G	G	T	rs192121072	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:36642156G>T	ENST00000373448.2	-	3	301	c.63C>A	c.(61-63)ctC>ctA	p.L21L	TTI1_ENST00000449821.1_Silent_p.L21L|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.L21L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	21					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGGTCTTTGTGAGCTGAACAC	0.512																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(61-63)ctC>ctA		TELO2 interacting protein 1							135.0	117.0	124.0					20																	36642156		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36642156G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.63C>A	20.37:g.36642156G>T						TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.L21L|TTI1_ENST00000449821.1_Silent_p.L21L	p.L21L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	301	-			21					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.63C>A	CCDS13300.1																																																																																				0.512	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		53	98	1	0	5.19286e-32	0.870114	6.15288e-32	53	98				
NPR1	4881	broad.mit.edu	37	1	153653153	153653153	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:153653153G>T	ENST00000368680.3	+	2	1370	c.898G>T	c.(898-900)Gtc>Ttc	p.V300F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	300					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGGCAGGATGTCAGTGCCCG	0.592																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(898-900)Gtc>Ttc		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						39.0	39.0	39.0					1																	153653153		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153653153G>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.898G>T	1.37:g.153653153G>T	ENSP00000357669:p.Val300Phe						p.V300F	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	1370	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		300					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.898G>T	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169284	0.09339	.	.	ENSG00000169418	ENST00000368680	T	0.73469	-0.75	4.47	1.5	0.22942	Extracellular ligand-binding receptor (1);	1.138800	0.06574	N	0.749043	T	0.38321	0.1036	N	0.22421	0.69	0.18873	N	0.999988	B	0.11235	0.004	B	0.08055	0.003	T	0.33624	-0.9861	10	0.56958	D	0.05	.	5.0325	0.14417	0.1725:0.0:0.6539:0.1736	.	300	P16066	ANPRA_HUMAN	F	300	ENSP00000357669:V300F	ENSP00000357669:V300F	V	+	1	0	NPR1	151919777	0.002000	0.14202	0.227000	0.23927	0.085000	0.17905	1.115000	0.31209	0.135000	0.18707	-0.321000	0.08615	GTC		0.592	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		17	19	1	0	1.02788e-11	0.520397	1.13228e-11	17	19				
EFNB1	1947	broad.mit.edu	37	X	68060246	68060246	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:68060246A>T	ENST00000204961.4	+	5	1570	c.790A>T	c.(790-792)Aag>Tag	p.K264*		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	264					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCTACTACTGAAGCTACGCAA	0.617																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(790-792)Aag>Tag		ephrin-B1							50.0	45.0	47.0					X																	68060246		2203	4300	6503	SO:0001587	stop_gained	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060246A>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.790A>T	X.37:g.68060246A>T	ENSP00000204961:p.Lys264*						p.K264*	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1570	+			264					D3DVU0	Nonsense_Mutation	SNP	ENST00000204961.4	37	c.790A>T	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	A	43	10.250577	0.99368	.	.	ENSG00000090776	ENST00000204961	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7206	11.6263	0.51147	1.0:0.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000204961:K264X	K	+	1	0	EFNB1	67976971	1.000000	0.71417	0.902000	0.35471	0.910000	0.53928	8.703000	0.91344	1.873000	0.54277	0.430000	0.28490	AAG		0.617	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		11	34	0	0	0	0.435327	0	11	34				
IRF7	3665	broad.mit.edu	37	11	614335	614335	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:614335G>T	ENST00000397574.2	-	6	887	c.518C>A	c.(517-519)cCt>cAt	p.P173H	IRF7_ENST00000525445.1_Missense_Mutation_p.P67H|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Missense_Mutation_p.P173H|IRF7_ENST00000397566.1_Missense_Mutation_p.P186H|IRF7_ENST00000397570.1_Missense_Mutation_p.P173H|IRF7_ENST00000330243.5_Missense_Mutation_p.P186H	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	173					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTGGGGCAGGGAGGGGGCC	0.647																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(556-558)cCt>cAt		interferon regulatory factor 7							25.0	26.0	25.0					11																	614335		2196	4296	6492	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:614335G>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.518C>A	11.37:g.614335G>T	ENSP00000380704:p.Pro173His					IRF7_ENST00000397570.1_Missense_Mutation_p.P173H|IRF7_ENST00000525445.1_Missense_Mutation_p.P67H|IRF7_ENST00000330243.5_Missense_Mutation_p.P186H|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Missense_Mutation_p.P173H|IRF7_ENST00000397574.2_Missense_Mutation_p.P173H	p.P186H	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	966	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	173					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.557C>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964614	0.34659	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.96300	-3.09;-3.93;-3.93;-3.96;-3.97;-3.96	2.55	0.472	0.16758	.	422.493000	0.00166	U	0.000000	D	0.95207	0.8446	L	0.29908	0.895	0.09310	N	1	D;B;D;D	0.76494	0.997;0.021;0.998;0.999	P;B;P;D	0.64237	0.737;0.006;0.84;0.923	D	0.87360	0.2343	10	0.15952	T	0.53	-0.0238	3.0053	0.06026	0.1547:0.0:0.3732:0.4721	.	67;173;173;186	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	H	67;173;173;186;173;186	ENSP00000434009:P67H;ENSP00000331803:P173H;ENSP00000380700:P173H;ENSP00000380697:P186H;ENSP00000380704:P173H;ENSP00000329411:P186H	ENSP00000329411:P186H	P	-	2	0	IRF7	604335	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.185000	0.16958	0.108000	0.17862	0.457000	0.33378	CCT		0.647	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		8	9	1	0	1.33987e-11	0.361761	1.46451e-11	8	9				
RRBP1	6238	broad.mit.edu	37	20	17600277	17600277	+	Splice_Site	SNP	C	C	T	rs374039577		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:17600277C>T	ENST00000377813.1	-	19	3979		c.e19+1		RRBP1_ENST00000377807.2_Splice_Site|RRBP1_ENST00000246043.4_Splice_Site|RRBP1_ENST00000470422.1_Splice_Site|RRBP1_ENST00000455029.2_Splice_Site|RRBP1_ENST00000360807.4_Splice_Site			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1						osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCAGACTCACCCCTGCCACC	0.647																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.e19+1		ribosome binding protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	44.0	33.0	37.0		,	5.6	1.0	20		37	0,8600		0,0,4300	no	splice-5,splice-5	RRBP1	NM_001042576.1,NM_004587.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,	17600277	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17600277C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3675+1G>A	20.37:g.17600277C>T						RRBP1_ENST00000360807.4_Splice_Site|RRBP1_ENST00000377807.2_Splice_Site|RRBP1_ENST00000246043.4_Splice_Site|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Splice_Site				Q9P2E9	RRBP1_HUMAN			19	3979	-								A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Splice_Site	SNP	ENST00000377813.1	37			.	.	.	.	.	.	.	.	.	.	C	17.17	3.320143	0.60634	2.27E-4	0.0	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2387	0.89958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRBP1	17548277	0.996000	0.38824	1.000000	0.80357	0.775000	0.43874	3.341000	0.52151	2.656000	0.90262	0.563000	0.77884	.		0.647	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	Intron	6	24	0	0	0	0.248553	0	6	24				
SERTAD4	56256	broad.mit.edu	37	1	210415007	210415007	+	Silent	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:210415007A>C	ENST00000367012.3	+	4	626	c.396A>C	c.(394-396)atA>atC	p.I132I	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	132	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CTGTCCTTATAAACAATTTGA	0.408																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(394-396)atA>atC		SERTA domain containing 4							100.0	104.0	103.0					1																	210415007		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415007A>C	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.396A>C	1.37:g.210415007A>C						SERTAD4_ENST00000490620.1_3'UTR	p.I132I	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	626	+			132			SERTA.		B2RD32	Silent	SNP	ENST00000367012.3	37	c.396A>C	CCDS1494.1																																																																																				0.408	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		50	78	0	0	0	0.870114	0	50	78				
TUBA1C	84790	broad.mit.edu	37	12	49666782	49666782	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:49666782T>C	ENST00000301072.6	+	4	1397	c.1122T>C	c.(1120-1122)gcT>gcC	p.A374A	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.A444A	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	374					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TACAGAGAGCTGTGTGCATGC	0.562																																						ENST00000301072.6																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						c.(1120-1122)gcT>gcC		tubulin, alpha 1c							84.0	71.0	75.0					12																	49666782		2203	4300	6503	SO:0001819	synonymous_variant	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666782T>C	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1122T>C	12.37:g.49666782T>C						TUBA1C_ENST00000541364.1_Silent_p.A444A|RP11-161H23.5_ENST00000550468.2_RNA	p.A374A	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN			4	1397	+			374						Silent	SNP	ENST00000301072.6	37	c.1122T>C	CCDS8782.1																																																																																				0.562	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		19	36	0	0	0	0.575678	0	19	36				
KLHL13	90293	broad.mit.edu	37	X	117043342	117043342	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:117043342T>C	ENST00000262820.3	-	5	2197	c.1288A>G	c.(1288-1290)Aag>Gag	p.K430E	KLHL13_ENST00000371878.1_Missense_Mutation_p.K379E|KLHL13_ENST00000540167.1_Missense_Mutation_p.K414E|KLHL13_ENST00000371882.1_Missense_Mutation_p.K379E|KLHL13_ENST00000539496.1_Missense_Mutation_p.K433E|KLHL13_ENST00000371876.1_Missense_Mutation_p.K379E|KLHL13_ENST00000469946.1_Missense_Mutation_p.K379E|KLHL13_ENST00000545703.1_Missense_Mutation_p.K388E|KLHL13_ENST00000541812.1_Missense_Mutation_p.K414E	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	430					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGGTGCGCTTTTCATTTAAA	0.398																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1135-1137)Aag>Gag		kelch-like family member 13							67.0	56.0	60.0					X																	117043342		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043342T>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1288A>G	X.37:g.117043342T>C	ENSP00000262820:p.Lys430Glu					KLHL13_ENST00000541812.1_Missense_Mutation_p.K414E|KLHL13_ENST00000371878.1_Missense_Mutation_p.K379E|KLHL13_ENST00000540167.1_Missense_Mutation_p.K414E|KLHL13_ENST00000262820.3_Missense_Mutation_p.K430E|KLHL13_ENST00000469946.1_Missense_Mutation_p.K379E|KLHL13_ENST00000539496.1_Missense_Mutation_p.K433E|KLHL13_ENST00000371882.1_Missense_Mutation_p.K379E|KLHL13_ENST00000545703.1_Missense_Mutation_p.K388E	p.K379E			Q9P2N7	KLH13_HUMAN			4	3556	-			430					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1135A>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193245	0.78902	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.45352	1.415	0.80722	D	1	P;D;P;P	0.55385	0.544;0.971;0.544;0.599	B;P;B;P	0.54629	0.316;0.757;0.343;0.574	T	0.70757	-0.4785	10	0.45353	T	0.12	.	13.8251	0.63346	0.0:0.0:0.0:1.0	.	414;433;424;430	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	E	379;379;379;379;414;414;433;430;388;379	ENSP00000360949:K379E;ENSP00000360943:K379E;ENSP00000360945:K379E;ENSP00000412640:K379E;ENSP00000444450:K414E;ENSP00000441029:K414E;ENSP00000443191:K433E;ENSP00000262820:K430E;ENSP00000440707:K388E;ENSP00000419803:K379E	ENSP00000262820:K430E	K	-	1	0	KLHL13	116927370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.838000	0.53458	0.481000	0.45027	AAG		0.398	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		39	47	0	0	0	0.812448	0	39	47				
RGS18	64407	broad.mit.edu	37	1	192128415	192128415	+	Missense_Mutation	SNP	G	G	A	rs201783745		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:192128415G>A	ENST00000367460.3	+	2	366	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	62					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R62H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGACACCCGCTCCAGTAGA	0.353																																						ENST00000367460.3																			1	Substitution - Missense(1)	p.R62H(1)	ovary(1)	kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(184-186)cGc>cAc		regulator of G-protein signaling 18							47.0	51.0	49.0					1																	192128415		2203	4300	6503	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192128415G>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.185G>A	1.37:g.192128415G>A	ENSP00000356430:p.Arg62His					RGS18_ENST00000481707.1_3'UTR	p.R62H	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			2	366	+			62					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.185G>A	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	0.777	-0.763574	0.02996	.	.	ENSG00000150681	ENST00000367460	T	0.50548	0.74	5.88	-1.3	0.09259	.	0.643725	0.18259	N	0.146710	T	0.13030	0.0316	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.29301	T	0.29	.	1.9276	0.03320	0.4129:0.2511:0.0716:0.2644	.	62	Q9NS28	RGS18_HUMAN	H	62	ENSP00000356430:R62H	ENSP00000356430:R62H	R	+	2	0	RGS18	190395038	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.066000	0.11598	-0.430000	0.07318	-0.300000	0.09419	CGC		0.353	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		8	21	0	0	0	0.307466	0	8	21				
TNFRSF10C	8794	broad.mit.edu	37	8	22938937	22938937	+	5'Flank	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr8:22938937C>T	ENST00000397703.2	+	0	0				RP11-875O11.2_ENST00000501897.1_RNA			O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain						apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTACCTTTTCTCCTACAAAG	0.473																																						ENST00000501897.1																			0																																																	SO:0001631	upstream_gene_variant	286059							g.chr8:22938937C>T	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844		8.37:g.22938937C>T	Exception_encountered							NR_038873.1						0	441	+								O14755|Q08AS6|Q6FH98|Q6UXM5	RNA	SNP	ENST00000397703.2	37																																																																																						0.473	TNFRSF10C-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000375321.2			3	17	0	0	0	0.307466	0	3	17				
ANKRD9	122416	broad.mit.edu	37	14	102973996	102973996	+	Silent	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:102973996G>C	ENST00000286918.4	-	4	827	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ANKRD9_ENST00000559651.1_Silent_p.L77L|ANKRD9_ENST00000560748.1_Silent_p.L77L	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	77										pancreas(1)|skin(1)	2						CGAGCGCGTAGAGCAGCGCCT	0.721																																						ENST00000286918.4																			0				pancreas(1)|skin(1)	2						c.(229-231)ctC>ctG		ankyrin repeat domain 9							7.0	8.0	7.0					14																	102973996		2031	3961	5992	SO:0001819	synonymous_variant	122416							g.chr14:102973996G>C	BC015422	CCDS9973.1	14q32.33	2013-01-11				ENSG00000156381		"""Ankyrin repeat domain containing"""	20096	protein-coding gene	gene with protein product							Standard	NM_152326		Approved		uc001ylz.1	Q96BM1		ENST00000286918.4:c.231C>G	14.37:g.102973996G>C						ANKRD9_ENST00000560748.1_Silent_p.L77L|ANKRD9_ENST00000559651.1_Silent_p.L77L	p.L77L	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN			4	827	-			77					A8K753	Silent	SNP	ENST00000286918.4	37	c.231C>G	CCDS9973.1																																																																																				0.721	ANKRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415057.1			4	3	0	0	0	0.150653	0	4	3				
HEG1	57493	broad.mit.edu	37	3	124738166	124738166	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:124738166A>G	ENST00000311127.4	-	5	1595	c.1528T>C	c.(1528-1530)Tct>Cct	p.S510P	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	510	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTAGATGAAGACTCTGAATAA	0.463																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1528-1530)Tct>Cct		heart development protein with EGF-like domains 1							134.0	134.0	134.0					3																	124738166		2025	4193	6218	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738166A>G	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1528T>C	3.37:g.124738166A>G	ENSP00000311502:p.Ser510Pro					HEG1_ENST00000477536.1_5'UTR	p.S510P	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			5	1595	-			510			Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1528T>C	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803796	0.31869	.	.	ENSG00000173706	ENST00000311127	D	0.90732	-2.72	5.13	1.24	0.21308	.	.	.	.	.	D	0.85630	0.5741	N	0.05383	-0.06	0.24998	N	0.991484	D;D	0.67145	0.996;0.994	P;P	0.62382	0.901;0.694	T	0.75513	-0.3291	9	0.28530	T	0.3	.	5.9197	0.19076	0.5041:0.3351:0.0:0.1608	.	510;510	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	P	510	ENSP00000311502:S510P	ENSP00000311502:S510P	S	-	1	0	HEG1	126220856	0.100000	0.21855	0.898000	0.35279	0.345000	0.29048	0.634000	0.24614	0.060000	0.16281	0.528000	0.53228	TCT		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	139	0	0	0	0.184627	0	5	139				
RPA1	6117	broad.mit.edu	37	17	1782612	1782612	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:1782612C>T	ENST00000254719.5	+	10	973	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	288					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TCCGTCATGCCCTGTGAGGAC	0.443								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(862-864)cCc>cTc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							110.0	103.0	106.0					17																	1782612		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782612C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.863C>T	17.37:g.1782612C>T	ENSP00000254719:p.Pro288Leu						p.P288L	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			10	973	+			288					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.863C>T	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443148	0.25987	.	.	ENSG00000132383	ENST00000254719	T	0.44881	0.91	6.08	4.93	0.64822	Nucleic acid-binding, OB-fold-like (1);	0.047393	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42529	1.33	0.80722	D	1	B	0.13594	0.008	B	0.17098	0.017	T	0.07986	-1.0744	10	0.27785	T	0.31	-12.8721	16.2916	0.82756	0.0:0.9271:0.0:0.0729	.	288	P27694	RFA1_HUMAN	L	288	ENSP00000254719:P288L	ENSP00000254719:P288L	P	+	2	0	RPA1	1729362	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.104000	0.50306	2.894000	0.99253	0.591000	0.81541	CCC		0.443	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		26	61	0	0	0	0.667858	0	26	61				
COL6A3	1293	broad.mit.edu	37	2	238287851	238287851	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:238287851A>C	ENST00000295550.4	-	6	2377	c.1925T>G	c.(1924-1926)tTt>tGt	p.F642C	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.F436C|COL6A3_ENST00000347401.3_Missense_Mutation_p.F441C|COL6A3_ENST00000392003.2_Missense_Mutation_p.F235C|COL6A3_ENST00000392004.3_Missense_Mutation_p.F436C|COL6A3_ENST00000353578.4_Missense_Mutation_p.F436C|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	642	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCAAAAGAAAGATGATATC	0.393																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1924-1926)tTt>tGt		collagen, type VI, alpha 3							59.0	59.0	59.0					2																	238287851		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287851A>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1925T>G	2.37:g.238287851A>C	ENSP00000295550:p.Phe642Cys					COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.F436C|COL6A3_ENST00000392003.2_Missense_Mutation_p.F235C|COL6A3_ENST00000392004.3_Missense_Mutation_p.F436C|COL6A3_ENST00000353578.4_Missense_Mutation_p.F436C|COL6A3_ENST00000347401.3_Missense_Mutation_p.F441C|COL6A3_ENST00000346358.4_Intron	p.F642C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2377	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	642			Nonhelical region.|VWFA 4.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1925T>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292704	0.80914	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.000000	0.49916	U	0.000138	D	0.95981	0.8691	H	0.97659	4.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97546	1.0089	10	0.87932	D	0	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	235;436;436;642	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	C	642;441;436;436;436;235	ENSP00000295550:F642C;ENSP00000315609:F441C;ENSP00000315873:F436C;ENSP00000386844:F436C;ENSP00000375861:F436C;ENSP00000375860:F235C	ENSP00000295550:F642C	F	-	2	0	COL6A3	237952590	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.262000	0.95591	2.099000	0.63709	0.533000	0.62120	TTT		0.393	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	65	0	0	0	0.693898	0	26	65				
KIF1A	547	broad.mit.edu	37	2	241706374	241706374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:241706374C>A	ENST00000320389.7	-	18	1773	c.1615G>T	c.(1615-1617)Gag>Tag	p.E539*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.E548*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	539	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E539K(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGCAGTGCTCCTCCTTGATG	0.652																																						ENST00000498729.2																			1	Substitution - Missense(1)	p.E539K(1)	NS(1)	NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1642-1644)Gag>Tag		kinesin family member 1A							41.0	47.0	45.0					2																	241706374		2157	4243	6400	SO:0001587	stop_gained	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241706374C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1615G>T	2.37:g.241706374C>A	ENSP00000322791:p.Glu539*					KIF1A_ENST00000320389.7_Nonsense_Mutation_p.E539*	p.E548*	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	19	1888	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	539			FHA.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	c.1642G>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	41	8.875809	0.98986	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.	.	.	3.78	2.88	0.33553	.	0.314863	0.31438	U	0.007652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.7938	0.52084	0.0:0.9103:0.0:0.0897	.	.	.	.	X	539;548;548;548	.	ENSP00000322791:E539X	E	-	1	0	KIF1A	241355047	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.866000	0.69590	0.711000	0.32018	0.298000	0.19748	GAG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		7	9	1	0	0.000157383	0.278610	0.000164378	7	9				
NUDT21	11051	broad.mit.edu	37	16	56473652	56473652	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:56473652C>G	ENST00000300291.5	-	4	560	c.388G>C	c.(388-390)Ggt>Cgt	p.G130R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	130	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TCCTGACGACCCAGTATCTGT	0.403																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(388-390)Ggt>Cgt		nudix (nucleoside diphosphate linked moiety X)-type motif 21							140.0	142.0	141.0					16																	56473652		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56473652C>G	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.388G>C	16.37:g.56473652C>G	ENSP00000300291:p.Gly130Arg						p.G130R	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			4	560	-			130			Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.388G>C	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217073	0.95104	.	.	ENSG00000167005	ENST00000300291	T	0.54479	0.57	5.83	5.83	0.93111	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79769	-0.1664	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	130	O43809	CPSF5_HUMAN	R	130	ENSP00000300291:G130R	ENSP00000300291:G130R	G	-	1	0	NUDT21	55031153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.806000	0.86020	2.763000	0.94921	0.563000	0.77884	GGT		0.403	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		86	148	0	0	0	0.870114	0	86	148				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	64	0	0	0	0.184627	0	5	64				
DST	667	broad.mit.edu	37	6	56473841	56473841	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:56473841C>G	ENST00000361203.3	-	36	4959	c.4952G>C	c.(4951-4953)aGc>aCc	p.S1651T	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S1829T|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1651T|DST_ENST00000312431.6_Missense_Mutation_p.S1651T|DST_ENST00000446842.2_Missense_Mutation_p.S1325T|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1651					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTATCATGCTTTGAGCTAG	0.433																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5485-5487)aGc>aCc		dystonin							269.0	261.0	264.0					6																	56473841		1896	4132	6028	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473841C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4952G>C	6.37:g.56473841C>G	ENSP00000354508:p.Ser1651Thr					DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S1651T|DST_ENST00000361203.3_Missense_Mutation_p.S1651T|DST_ENST00000446842.2_Missense_Mutation_p.S1325T|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1651T	p.S1829T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5485	-	Lung NSC(77;0.103)		1651					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5486G>C		.	.	.	.	.	.	.	.	.	.	C	10.22	1.288985	0.23478	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.52	4.64	0.57946	.	0.116551	0.38164	N	0.001783	T	0.47154	0.1430	.	.	.	0.21105	N	0.999787	B	0.24721	0.11	B	0.30316	0.114	T	0.51647	-0.8679	8	0.45353	T	0.12	.	14.1147	0.65146	0.0:0.9275:0.0:0.0725	.	1325	Q03001-9	.	T	1829;1651;1325;1651;1651;1325	ENSP00000359790:S1829T;ENSP00000359805:S1651T;ENSP00000393645:S1325T;ENSP00000307959:S1651T;ENSP00000354508:S1651T;ENSP00000404924:S1325T	ENSP00000307959:S1651T	S	-	2	0	DST	56581800	0.933000	0.31639	0.958000	0.39756	0.835000	0.47333	2.760000	0.47581	2.753000	0.94483	0.557000	0.71058	AGC		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		88	226	0	0	0	0.870114	0	88	226				
ERCC6L	54821	broad.mit.edu	37	X	71427585	71427585	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:71427585T>C	ENST00000334463.3	-	2	1167	c.1032A>G	c.(1030-1032)agA>agG	p.R344R	ERCC6L_ENST00000373657.1_Silent_p.R221R|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	344					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTTCATTAAGTCTGGCCTCTG	0.358																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(661-663)agA>agG		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							158.0	156.0	156.0					X																	71427585		2200	4296	6496	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427585T>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1032A>G	X.37:g.71427585T>C						PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.R344R	p.R221R			Q2NKX8	ERC6L_HUMAN			3	1265	-	Renal(35;0.156)		344			Helicase ATP-binding.		Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.663A>G	CCDS35329.1																																																																																				0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		51	185	0	0	0	0.870114	0	51	185				
COX19	90639	broad.mit.edu	37	7	1009028	1009028	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:1009028C>T	ENST00000344111.3	-	3	348	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	87						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TTTTTTGCCTCTGATTTTCCA	0.473																																						ENST00000344111.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(259-261)Gag>Aag		cytochrome c oxidase assembly homolog 19 (S. cerevisiae)							260.0	298.0	285.0					7																	1009028		2203	4300	6503	SO:0001583	missense	90639					cytosol		g.chr7:1009028C>T	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.259G>A	7.37:g.1009028C>T	ENSP00000342015:p.Glu87Lys						p.E87K	NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	3	348	-		Ovarian(82;0.0112)	87					A4FTX0	Missense_Mutation	SNP	ENST00000344111.3	37	c.259G>A	CCDS34582.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627693	0.28978	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.17	1.33	0.21861	.	0.750110	0.12483	N	0.464960	T	0.27241	0.0668	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	8	0.33141	T	0.24	-15.1395	7.9476	0.29995	0.0:0.7252:0.0:0.2748	.	87	Q49B96	COX19_HUMAN	K	87	.	ENSP00000342015:E87K	E	-	1	0	COX19	975554	1.000000	0.71417	0.002000	0.10522	0.869000	0.49853	1.726000	0.38085	0.149000	0.19098	0.555000	0.69702	GAG		0.473	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		115	274	0	0	0	0.870114	0	115	274				
CALHM1	255022	broad.mit.edu	37	10	105215351	105215351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:105215351C>A	ENST00000329905.5	-	2	845	c.709G>T	c.(709-711)Gag>Tag	p.E237*	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	237					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TTGGCGTGCTCCGTGCACGTC	0.607																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(709-711)Gag>Tag		calcium homeostasis modulator 1							90.0	71.0	78.0					10																	105215351		2203	4300	6503	SO:0001587	stop_gained	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215351C>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.709G>T	10.37:g.105215351C>A	ENSP00000329926:p.Glu237*					RP11-225H22.4_ENST00000411906.1_RNA	p.E237*	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			2	845	-			237					Q5W091	Nonsense_Mutation	SNP	ENST00000329905.5	37	c.709G>T	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398976	0.97537	.	.	ENSG00000185933	ENST00000329905	.	.	.	5.43	5.43	0.79202	.	0.102802	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.116	19.2214	0.93797	0.0:1.0:0.0:0.0	.	.	.	.	X	237	.	ENSP00000329926:E237X	E	-	1	0	CALHM1	105205341	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	7.332000	0.79203	2.541000	0.85698	0.462000	0.41574	GAG		0.607	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		17	28	1	0	1.02788e-11	0.520397	1.13228e-11	17	28				
ZNF318	24149	broad.mit.edu	37	6	43316104	43316104	+	Silent	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:43316104G>A	ENST00000361428.2	-	6	3107	c.3030C>T	c.(3028-3030)agC>agT	p.S1010S	ZNF318_ENST00000318149.3_Silent_p.S1010S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1010					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTTTCTGGGCTCTTAGATT	0.393																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3028-3030)agC>agT		zinc finger protein 318							213.0	218.0	216.0					6																	43316104		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316104G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3030C>T	6.37:g.43316104G>A						ZNF318_ENST00000318149.3_Silent_p.S1010S	p.S1010S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3107	-			1010					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.3030C>T	CCDS4895.2																																																																																				0.393	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		80	183	0	0	0	0.870114	0	80	183				
PCNXL3	399909	broad.mit.edu	37	11	65380540	65380540	+	5'Flank	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:65380540G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.H230Y|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCTCGCAGTGCAGGTAGTGC	0.652																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(688-690)Cac>Tac		mitogen-activated protein kinase kinase kinase 11							80.0	73.0	75.0					11																	65380540		2201	4297	6498	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380540G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380540G>A	Exception_encountered						p.H230Y	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			1	1173	-			230			Protein kinase.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.688C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598392	0.87055	.	.	ENSG00000173327	ENST00000309100	D	0.97232	-4.3	4.22	4.22	0.49857	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.98874	0.9619	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99250	1.0887	10	0.87932	D	0	.	14.1416	0.65322	0.0:0.0:1.0:0.0	.	230	Q16584	M3K11_HUMAN	Y	230	ENSP00000309597:H230Y	ENSP00000309597:H230Y	H	-	1	0	MAP3K11	65137116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.561000	0.98142	2.195000	0.70347	0.655000	0.94253	CAC		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		13	28	0	0	0	0.411799	0	13	28				
HSPA8	3312	broad.mit.edu	37	11	122930898	122930898	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:122930898T>C	ENST00000532636.1	-	4	609	c.490A>G	c.(490-492)Att>Gtt	p.I164V	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.I164V|HSPA8_ENST00000534624.1_Missense_Mutation_p.I164V|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.I164V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I145V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	164					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGACCAGCAATAGTTCCAGCA	0.423																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(490-492)Att>Gtt		heat shock 70kDa protein 8							89.0	84.0	86.0					11																	122930898		2202	4296	6498	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930898T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.490A>G	11.37:g.122930898T>C	ENSP00000437125:p.Ile164Val					HSPA8_ENST00000453788.2_Missense_Mutation_p.I164V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I164V|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.I164V|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.I145V	p.I164V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	4	766	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	164					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.490A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643025	0.67244	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T;T	0.01323	5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01;5.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	H	0.98370	4.215	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.002;0.001;0.002	B;B;B;B;B	0.19391	0.008;0.025;0.005;0.003;0.025	T	0.02424	-1.1161	10	0.87932	D	0	-19.4316	14.7286	0.69362	0.0:0.0:0.0:1.0	.	164;164;164;164;164	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	V	164;164;164;164;145;104;123;164;164;164;164	ENSP00000437125:I164V;ENSP00000432083:I164V;ENSP00000404372:I164V;ENSP00000227378:I164V;ENSP00000433584:I145V;ENSP00000432884:I104V;ENSP00000436762:I123V;ENSP00000435154:I164V;ENSP00000431641:I164V;ENSP00000436183:I164V;ENSP00000434415:I164V	ENSP00000227378:I164V	I	-	1	0	HSPA8	122436108	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.926000	0.87569	1.919000	0.55581	0.459000	0.35465	ATT		0.423	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			47	72	0	0	0	0.870114	0	47	72				
CNDP2	55748	broad.mit.edu	37	18	72180800	72180800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr18:72180800T>A	ENST00000324262.4	+	8	1065	c.749T>A	c.(748-750)tTg>tAg	p.L250*	CNDP2_ENST00000579847.1_Nonsense_Mutation_p.L250*|CNDP2_ENST00000324301.8_Nonsense_Mutation_p.L166*	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	250					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCAGGCTCTTTGGTGGACAAG	0.622																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(748-750)tTg>tAg		CNDP dipeptidase 2 (metallopeptidase M20 family)							36.0	33.0	34.0					18																	72180800		2203	4300	6503	SO:0001587	stop_gained	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72180800T>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.749T>A	18.37:g.72180800T>A	ENSP00000325548:p.Leu250*					CNDP2_ENST00000579847.1_Nonsense_Mutation_p.L250*|CNDP2_ENST00000324301.8_Nonsense_Mutation_p.L166*	p.L250*	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	8	1065	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	250					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Nonsense_Mutation	SNP	ENST00000324262.4	37	c.749T>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	T	37	6.177616	0.97352	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	.	.	.	5.46	5.46	0.80206	.	0.068226	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2009	15.5525	0.76164	0.0:0.0:0.0:1.0	.	.	.	.	X	250;166	.	ENSP00000325548:L250X	L	+	2	0	CNDP2	70331780	1.000000	0.71417	0.004000	0.12327	0.714000	0.41099	7.782000	0.85680	2.070000	0.61991	0.533000	0.62120	TTG		0.622	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		14	27	0	0	0	0.435327	0	14	27				
NOP16	51491	broad.mit.edu	37	5	175811208	175811208	+	3'UTR	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:175811208T>C	ENST00000389158.5	-	0	996				NOP16_ENST00000507413.1_Missense_Mutation_p.R63G|NOP16_ENST00000510123.1_Missense_Mutation_p.Q157R			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CGCCTCAGCCTGGGGCAGCTG	0.562																																						ENST00000510123.1																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(469-471)cAg>cGg		NOP16 nucleolar protein							89.0	91.0	90.0					5																	175811208		2031	4179	6210	SO:0001624	3_prime_UTR_variant	51491					nucleolus		g.chr5:175811208T>C		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.*24A>G	5.37:g.175811208T>C						NOP16_ENST00000507413.1_Missense_Mutation_p.R63G|NOP16_ENST00000389158.5_3'UTR	p.Q157R	NM_001256539.1|NM_001256540.1|NM_016391.5	NP_001243468.1|NP_001243469.1|NP_057475.2	Q9Y3C1	NOP16_HUMAN			5	692	-			0					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.470A>G	CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.72|10.72	1.429389|1.429389	0.25726|0.25726	.|.	.|.	ENSG00000048162|ENSG00000048162	ENST00000510123;ENST00000341213;ENST00000451293|ENST00000507413	.|.	.|.	.|.	3.7|3.7	-3.14|-3.14	0.05250|0.05250	.|.	8.954090|.	0.00447|.	N|.	0.000086|.	T|T	0.34774|0.34774	0.0909|0.0909	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.29432|.	0.244;0.148|.	B;B|.	0.19391|.	0.025;0.025|.	T|T	0.44065|0.44065	-0.9352|-0.9352	8|5	0.87932|0.87932	D|D	0|0	0.3824|0.3824	4.4173|4.4173	0.11463|0.11463	0.1818:0.4503:0.0:0.3678|0.1818:0.4503:0.0:0.3678	.|.	158;157|.	Q6PIM0;D6RGD3|.	.;.|.	R|G	157;162;158|63	.|.	ENSP00000340662:Q162R|ENSP00000426392:R63G	Q|R	-|-	2|1	0|2	NOP16|NOP16	175743814|175743814	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.037000|0.037000	0.13140|0.13140	-2.690000|-2.690000	0.00831|0.00831	-0.455000|-0.455000	0.07054|0.07054	-0.290000|-0.290000	0.09829|0.09829	CAG|AGG		0.562	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		51	45	0	0	0	0.870114	0	51	45				
CHRNA4	1137	broad.mit.edu	37	20	61981066	61981066	+	Missense_Mutation	SNP	C	C	T	rs200810080		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr20:61981066C>T	ENST00000370263.4	-	5	1918	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	566					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTCCACCGCCCGGGTCAGGGC	0.677																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1696-1698)cGg>cAg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)	C	GLN/ARG	0,4400		0,0,2200	38.0	47.0	44.0		1697	3.7	0.5	20		44	1,8597	1.2+/-3.3	0,1,4298	no	missense	CHRNA4	NM_000744.5	43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	566/628	61981066	1,12997	2200	4299	6499	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981066C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1697G>A	20.37:g.61981066C>T	ENSP00000359285:p.Arg566Gln					CHRNA4_ENST00000463705.1_5'UTR	p.R566Q	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1918	-	all_cancers(38;1.71e-10)		566					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1697G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998310	0.19043	0.0	1.16E-4	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85955	-2.05	4.72	3.7	0.42460	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.552403	0.19878	N	0.104026	T	0.72317	0.3445	L	0.34521	1.04	0.09310	N	0.999996	B;B	0.30281	0.178;0.275	B;B	0.25291	0.059;0.033	T	0.58081	-0.7699	10	0.27082	T	0.32	.	5.3731	0.16150	0.3501:0.5386:0.0:0.1112	.	495;566	Q4VAQ5;P43681	.;ACHA4_HUMAN	Q	472;566;495	ENSP00000359285:R566Q	ENSP00000359280:R472Q	R	-	2	0	CHRNA4	61451510	0.147000	0.22687	0.494000	0.27515	0.361000	0.29550	1.377000	0.34317	2.176000	0.68965	0.491000	0.48974	CGG		0.677	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			26	46	0	0	0	0.681144	0	26	46				
WDR60	55112	broad.mit.edu	37	7	158705779	158705779	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:158705779T>A	ENST00000407559.3	+	13	1852	c.1694T>A	c.(1693-1695)gTa>gAa	p.V565E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	565					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGTACTGTTGTATCTGGAGGT	0.388																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1693-1695)gTa>gAa		WD repeat domain 60							106.0	114.0	112.0					7																	158705779		1891	4106	5997	SO:0001583	missense	55112							g.chr7:158705779T>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1694T>A	7.37:g.158705779T>A	ENSP00000384290:p.Val565Glu						p.V565E	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	13	1852	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	565					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.1694T>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210642	0.39102	.	.	ENSG00000126870	ENST00000407559	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.067239	0.64402	D	0.000013	D	0.85444	0.5698	M	0.74881	2.28	0.46478	D	0.99906	D;D	0.65815	0.972;0.995	P;P	0.58577	0.706;0.841	D	0.86162	0.1594	10	0.56958	D	0.05	-23.8124	8.059	0.30623	0.0:0.0899:0.0:0.9101	.	48;565	A4D230;Q8WVS4	.;WDR60_HUMAN	E	565	ENSP00000384290:V565E	ENSP00000384290:V565E	V	+	2	0	WDR60	158398540	1.000000	0.71417	0.342000	0.25602	0.007000	0.05969	3.017000	0.49615	2.050000	0.60909	0.460000	0.39030	GTA		0.388	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		10	23	0	0	0	0.361761	0	10	23				
TUBGCP3	10426	broad.mit.edu	37	13	113181276	113181276	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr13:113181276G>A	ENST00000261965.3	-	13	1721	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S512F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	512					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGACTCTGCAGACTTGGTCAC	0.428																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1534-1536)tCt>tTt		tubulin, gamma complex associated protein 3							197.0	151.0	167.0					13																	113181276		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181276G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1535C>T	13.37:g.113181276G>A	ENSP00000261965:p.Ser512Phe					TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S512F	p.S512F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			13	1721	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		512					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1535C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213494	0.39102	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08807	3.05;3.05	4.53	4.53	0.55603	.	0.424017	0.26474	N	0.024165	T	0.13072	0.0317	L	0.55990	1.75	0.80722	D	1	B;B;B	0.27013	0.166;0.032;0.085	B;B;B	0.33799	0.17;0.023;0.128	T	0.04400	-1.0954	10	0.56958	D	0.05	-15.6283	15.4872	0.75575	0.0:0.0:1.0:0.0	.	502;512;512	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	F	512	ENSP00000261965:S512F;ENSP00000364821:S512F	ENSP00000261965:S512F	S	-	2	0	TUBGCP3	112229277	1.000000	0.71417	0.925000	0.36789	0.371000	0.29859	5.806000	0.69150	2.068000	0.61886	0.196000	0.17591	TCT		0.428	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		32	49	0	0	0	0.804634	0	32	49				
CNTNAP5	129684	broad.mit.edu	37	2	125555791	125555791	+	Silent	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:125555791C>G	ENST00000431078.1	+	19	3472	c.3108C>G	c.(3106-3108)tcC>tcG	p.S1036S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1036	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGCTCCATCCAAGGAAAACA	0.448																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3106-3108)tcC>tcG		contactin associated protein-like 5							157.0	150.0	152.0					2																	125555791		1962	4149	6111	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555791C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3108C>G	2.37:g.125555791C>G							p.S1036S	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3472	+			1036			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3108C>G	CCDS46401.1																																																																																				0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	29	0	0	0	0.592651	0	19	29				
CUBN	8029	broad.mit.edu	37	10	17165680	17165680	+	Silent	SNP	G	G	A	rs553801820		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:17165680G>A	ENST00000377833.4	-	5	461	c.396C>T	c.(394-396)gaC>gaT	p.D132D	CUBN_ENST00000377823.1_Silent_p.D132D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	132	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACCTTTTTGTCAACAGTCT	0.448																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(394-396)gaC>gaT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	55.0	60.0					10																	17165680		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17165680G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.396C>T	10.37:g.17165680G>A						CUBN_ENST00000377823.1_Silent_p.D132D	p.D132D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			5	461	-			132			EGF-like 1.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.396C>T	CCDS7113.1																																																																																				0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	17	0	0	0	0.217242	0	6	17				
MYRF	745	broad.mit.edu	37	11	61549236	61549236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:61549236C>T	ENST00000278836.5	+	22	3052	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	MYRF_ENST00000265460.5_Nonsense_Mutation_p.R951*|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Nonsense_Mutation_p.R377*	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	986					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCGGGCCCGCCGAGGGGCCCT	0.692																																						ENST00000278836.5																			0											c.(2956-2958)Cga>Tga		myelin regulatory factor							22.0	27.0	25.0					11																	61549236		2198	4283	6481	SO:0001587	stop_gained	745							g.chr11:61549236C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2956C>T	11.37:g.61549236C>T	ENSP00000278836:p.Arg986*					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Nonsense_Mutation_p.R377*|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R951*	p.R986*	NM_001127392.1	NP_001120864.1					22	3052	+								O43582|Q9P1Q6	Nonsense_Mutation	SNP	ENST00000278836.5	37	c.2956C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	41	8.709621	0.98925	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	.	.	.	4.18	1.0	0.19881	.	0.074406	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9248	11.9207	0.52791	0.468:0.532:0.0:0.0	.	.	.	.	X	986;951;377	.	ENSP00000265460:R951X	R	+	1	2	C11orf9	61305812	0.997000	0.39634	0.994000	0.49952	0.987000	0.75469	0.120000	0.15647	0.080000	0.16959	0.561000	0.74099	CGA		0.692	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		17	25	0	0	0	0.557998	0	17	25				
KLK3	354	broad.mit.edu	37	19	51362828	51362828	+	Intron	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr19:51362828A>C	ENST00000326003.2	+	5	671				KLK3_ENST00000597483.1_Missense_Mutation_p.M182L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.M225L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCTGCCGATGGTCCTCCA	0.607																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(673-675)Atg>Ctg		kallikrein-related peptidase 3							114.0	93.0	100.0					19																	51362828		2203	4300	6503	SO:0001627	intron_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51362828A>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.631-400A>C	19.37:g.51362828A>C						KLK3_ENST00000326003.2_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Missense_Mutation_p.M182L	p.M225L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	5	673	+		all_neural(266;0.057)	5			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.673A>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	a	6.126	0.391481	0.11581	.	.	ENSG00000142515	ENST00000360617	D	0.87809	-2.3	1.55	1.55	0.23275	.	.	.	.	.	T	0.65481	0.2695	N	0.04203	-0.255	0.24245	N	0.995341	B	0.02656	0.0	B	0.01281	0.0	T	0.55335	-0.8157	9	0.05959	T	0.93	.	5.2089	0.15307	1.0:0.0:0.0:0.0	.	225	G3XAE3	.	L	225	ENSP00000353829:M225L	ENSP00000353829:M225L	M	+	1	0	KLK3	56054640	0.001000	0.12720	0.014000	0.15608	0.004000	0.04260	1.168000	0.31859	0.956000	0.37904	0.329000	0.21502	ATG		0.607	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		4	89	0	0	0	0.184627	0	4	89				
MAPT	4137	broad.mit.edu	37	17	44091681	44091681	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:44091681C>T	ENST00000571987.1	+	11	1939	c.1939C>T	c.(1939-1941)Cat>Tat	p.H647Y	MAPT_ENST00000420682.2_Missense_Mutation_p.H301Y|MAPT_ENST00000340799.5_Missense_Mutation_p.H301Y|MAPT_ENST00000415613.2_Missense_Mutation_p.H665Y|MAPT_ENST00000262410.5_Missense_Mutation_p.H647Y|MAPT_ENST00000334239.8_Missense_Mutation_p.H241Y|MAPT_ENST00000431008.3_Missense_Mutation_p.H299Y|MAPT_ENST00000344290.5_Missense_Mutation_p.H665Y|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.H330Y|MAPT_ENST00000446361.3_Missense_Mutation_p.H272Y|MAPT_ENST00000535772.1_Missense_Mutation_p.H299Y|MAPT_ENST00000576518.1_Missense_Mutation_p.H230Y|MAPT_ENST00000347967.5_Missense_Mutation_p.H205Y|MAPT_ENST00000351559.5_Missense_Mutation_p.H330Y			P10636	TAU_HUMAN	microtubule-associated protein tau	647					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CAACATCCATCATAAACCAGG	0.552																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1993-1995)Cat>Tat		microtubule-associated protein tau							106.0	84.0	91.0					17																	44091681		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44091681C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1939C>T	17.37:g.44091681C>T	ENSP00000458742:p.His647Tyr					MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Missense_Mutation_p.H230Y|MAPT_ENST00000574436.1_Missense_Mutation_p.H330Y|MAPT_ENST00000415613.2_Missense_Mutation_p.H665Y|MAPT_ENST00000351559.5_Missense_Mutation_p.H330Y|MAPT_ENST00000334239.8_Missense_Mutation_p.H241Y|MAPT_ENST00000262410.5_Missense_Mutation_p.H647Y|MAPT_ENST00000446361.3_Missense_Mutation_p.H272Y|MAPT_ENST00000347967.5_Missense_Mutation_p.H205Y|MAPT_ENST00000420682.2_Missense_Mutation_p.H301Y|MAPT_ENST00000535772.1_Missense_Mutation_p.H299Y|MAPT_ENST00000431008.3_Missense_Mutation_p.H299Y|MAPT_ENST00000571987.1_Missense_Mutation_p.H647Y|MAPT_ENST00000340799.5_Missense_Mutation_p.H301Y	p.H665Y	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			13	2315	+		Melanoma(429;0.216)	647					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1993C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325551	0.81580	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	5.09	5.09	0.68999	.	0.000000	0.40728	N	0.001037	D	0.98909	0.9630	M	0.89840	3.065	0.80722	D	1	D;D;D;P;D;D;D	0.76494	0.997;0.975;0.998;0.725;0.997;0.996;0.999	D;D;D;P;D;D;D	0.87578	0.995;0.974;0.998;0.79;0.995;0.986;0.998	D	0.99433	1.0936	10	0.54805	T	0.06	-10.4865	17.4407	0.87564	0.0:1.0:0.0:0.0	.	665;301;248;241;272;330;647	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	Y	665;647;330;301;299;205;248;241;272;301;665;153	ENSP00000340820:H665Y;ENSP00000262410:H647Y;ENSP00000303214:H330Y;ENSP00000340438:H301Y;ENSP00000443028:H299Y;ENSP00000302706:H205Y;ENSP00000408975:H241Y;ENSP00000413056:H301Y;ENSP00000410838:H665Y	ENSP00000262410:H647Y	H	+	1	0	MAPT	41447518	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	2.521000	0.84997	0.561000	0.74099	CAT		0.552	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		13	21	0	0	0	0.457914	0	13	21				
MYO7A	4647	broad.mit.edu	37	11	76909563	76909563	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:76909563G>A	ENST00000409709.3	+	34	4737	c.4465G>A	c.(4465-4467)Gtc>Atc	p.V1489I	MYO7A_ENST00000458637.2_Missense_Mutation_p.V1489I|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1478I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1489	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						CAAGAACGACGTCATCGTGGC	0.607																																						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.(4465-4467)Gtc>Atc		myosin VIIA							73.0	81.0	78.0					11																	76909563		2084	4188	6272	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.chr11:76909563G>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.4465G>A	11.37:g.76909563G>A	ENSP00000386331:p.Val1489Ile					MYO7A_ENST00000458637.2_Missense_Mutation_p.V1489I|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1478I	p.V1489I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			34	4737	+			1489			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4465G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876425	0.33162	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.06	5.06	0.68205	FERM domain (1);	0.067374	0.64402	D	0.000017	D	0.89677	0.6784	M	0.78049	2.395	0.80722	D	1	P;P;B	0.43662	0.545;0.814;0.343	B;B;B	0.35413	0.161;0.202;0.086	D	0.89739	0.3932	10	0.34782	T	0.22	.	18.6167	0.91305	0.0:0.0:1.0:0.0	.	1478;1489;1489	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1489;1489;1478;700;1488;1458;1365;670;142	ENSP00000386331:V1489I;ENSP00000392185:V1489I;ENSP00000386635:V1478I;ENSP00000417017:V670I	ENSP00000345075:V1365I	V	+	1	0	MYO7A	76587211	1.000000	0.71417	0.556000	0.28293	0.082000	0.17680	4.164000	0.58190	2.624000	0.88883	0.655000	0.94253	GTC		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		16	35	0	0	0	0.500413	0	16	35				
CIITA	4261	broad.mit.edu	37	16	10997754	10997754	+	Splice_Site	SNP	T	T	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:10997754T>A	ENST00000324288.8	+	9	1070		c.e9+2		CIITA_ENST00000381835.5_Splice_Site|CIITA_ENST00000537380.1_Splice_Site	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator						aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACATGACAGGTAAGGACCCTT	0.582			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.e9+2		class II, major histocompatibility complex, transactivator							92.0	87.0	89.0					16																	10997754		2197	4300	6497	SO:0001630	splice_region_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10997754T>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.937+2T>A	16.37:g.10997754T>A						CIITA_ENST00000537380.1_Splice_Site|CIITA_ENST00000381835.5_Splice_Site		NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			9	1070	+								A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Splice_Site	SNP	ENST00000324288.8	37		CCDS10544.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479885	0.26511	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.937	0.52878	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIITA	10905255	1.000000	0.71417	0.890000	0.34922	0.006000	0.05464	2.006000	0.40874	2.076000	0.62316	0.533000	0.62120	.		0.582	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	Intron	34	73	0	0	0	0.769981	0	34	73				
RUSC1	23623	broad.mit.edu	37	1	155290484	155290484	+	5'Flank	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:155290484G>C	ENST00000368352.5	+	0	0				RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCTCGGCCCAGCCAGAGTCTG	0.537																																						ENST00000446880.1																			0																																																	SO:0001631	upstream_gene_variant	284618							g.chr1:155290484G>C	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290484G>C	Exception_encountered					RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA				Q66K80	RUAS1_HUMAN			0	410	-								B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	ENST00000368352.5	37		CCDS41410.1																																																																																				0.537	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			5	14	0	0	0	0.184627	0	5	14				
SLC22A9	114571	broad.mit.edu	37	11	63177323	63177323	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:63177323A>G	ENST00000279178.3	+	10	1900	c.1651A>G	c.(1651-1653)Acg>Gcg	p.T551A	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	551					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGTGGAAGTGACGCAGTTTTA	0.398																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1651-1653)Acg>Gcg		solute carrier family 22 (organic anion transporter), member 9							68.0	71.0	70.0					11																	63177323		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63177323A>G	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1651A>G	11.37:g.63177323A>G	ENSP00000279178:p.Thr551Ala					SLC22A9_ENST00000310969.4_3'UTR	p.T551A	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			10	1900	+			551					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1651A>G	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594959	0.28445	.	.	ENSG00000149742	ENST00000279178	T	0.63580	-0.05	2.9	1.75	0.24633	.	1.555770	0.04325	U	0.351414	T	0.80423	0.4620	M	0.86953	2.85	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.51655	-0.8678	10	0.87932	D	0	.	4.7442	0.13029	0.845:0.0:0.155:0.0	.	551	Q8IVM8	S22A9_HUMAN	A	551	ENSP00000279178:T551A	ENSP00000279178:T551A	T	+	1	0	SLC22A9	62933899	0.111000	0.22076	0.182000	0.23118	0.002000	0.02628	1.048000	0.30379	0.346000	0.23899	0.332000	0.21555	ACG		0.398	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		9	38	0	0	0	0.387290	0	9	38				
EIF5AL1	143244	broad.mit.edu	37	10	81272785	81272785	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr10:81272785A>G	ENST00000520547.2	+	1	429	c.380A>G	c.(379-381)tAc>tGc	p.Y127C	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	127					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GAGCAGAAGTACGACTGTGGA	0.552																																						ENST00000520547.2																			0				endometrium(1)	1						c.(379-381)tAc>tGc		eukaryotic translation initiation factor 5A-like 1							116.0	129.0	125.0					10																	81272785		2198	4298	6496	SO:0001583	missense	143244				mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity	g.chr10:81272785A>G		CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.380A>G	10.37:g.81272785A>G	ENSP00000430706:p.Tyr127Cys						p.Y127C	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		1	429	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		127						Missense_Mutation	SNP	ENST00000520547.2	37	c.380A>G	CCDS53546.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402930	0.42613	.	.	ENSG00000253626	ENST00000520547	T	0.43688	0.94	0.843	0.843	0.18935	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.53351	0.1791	M	0.71036	2.16	0.25618	N	0.986439	D	0.71674	0.998	P	0.60415	0.874	T	0.40683	-0.9550	9	0.87932	D	0	.	5.6445	0.17582	1.0:0.0:0.0:0.0	.	127	Q6IS14	IF5AL_HUMAN	C	127	ENSP00000430706:Y127C	ENSP00000430706:Y127C	Y	+	2	0	EIF5AL1	80942791	0.994000	0.37717	0.368000	0.25939	0.447000	0.32167	0.621000	0.24418	0.311000	0.23014	0.305000	0.20034	TAC		0.552	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692		31	47	0	0	0	0.796494	0	31	47				
HAAO	23498	broad.mit.edu	37	2	43010461	43010461	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:43010461C>T	ENST00000294973.6	-	4	398	c.343G>A	c.(343-345)Ggg>Agg	p.G115R		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TACCTGAGCCCATCTAGCTCG	0.582																																						ENST00000294973.6																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(343-345)Ggg>Agg		3-hydroxyanthranilate 3,4-dioxygenase							33.0	30.0	31.0					2																	43010461		2203	4299	6502	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:43010461C>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.343G>A	2.37:g.43010461C>T	ENSP00000294973:p.Gly115Arg						p.G115R	NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN			4	398	-			115			Domain A (catalytic) (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.343G>A	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243079	0.10077	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.29917	1.55;1.55	4.69	4.69	0.59074	Cupin, RmlC-type (1);	0.069118	0.64402	D	0.000016	T	0.45677	0.1354	L	0.46741	1.465	0.53688	D	0.999972	D	0.89917	1.0	D	0.83275	0.996	T	0.14643	-1.0465	10	0.27082	T	0.32	.	12.9987	0.58662	0.0:1.0:0.0:0.0	.	115	P46952	3HAO_HUMAN	R	115;81	ENSP00000294973:G115R;ENSP00000412601:G81R	ENSP00000294973:G115R	G	-	1	0	HAAO	42863965	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	3.980000	0.56895	2.457000	0.83068	0.460000	0.39030	GGG		0.582	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			3	21	0	0	0	0.115264	0	3	21				
ZNF692	55657	broad.mit.edu	37	1	249151460	249151460	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:249151460C>T	ENST00000306601.4	-	4	614	c.448G>A	c.(448-450)Gag>Aag	p.E150K	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Missense_Mutation_p.E150K|ZNF692_ENST00000366469.5_Missense_Mutation_p.E150K|ZNF692_ENST00000451251.1_Missense_Mutation_p.E155K|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.E150K	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCGTGGCCTCGGAACACCAA	0.537																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(463-465)Gag>Aag		zinc finger protein 692							87.0	89.0	88.0					1																	249151460		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151460C>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.448G>A	1.37:g.249151460C>T	ENSP00000305483:p.Glu150Lys					ZNF692_ENST00000366469.5_Missense_Mutation_p.E150K|ZNF692_ENST00000427146.1_Missense_Mutation_p.E150K|ZNF692_ENST00000306601.4_Missense_Mutation_p.E150K|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.E150K	p.E155K	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	808	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	150					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.463G>A	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	3.957	-0.011082	0.07727	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.07216	3.23;3.26;3.26;3.23;3.21	3.69	1.78	0.24846	.	0.636563	0.14658	N	0.306161	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43893	-0.9363	10	0.14252	T	0.57	-6.5866	5.338	0.15969	0.0:0.6792:0.2063:0.1145	.	155;150;150	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	K	150;150;150;150;155	ENSP00000305483:E150K;ENSP00000390044:E150K;ENSP00000355427:E150K;ENSP00000355425:E150K;ENSP00000391200:E155K	ENSP00000305483:E150K	E	-	1	0	ZNF692	247118083	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	0.730000	0.26043	0.524000	0.28502	-0.170000	0.13304	GAG		0.537	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		41	61	0	0	0	0.834066	0	41	61				
RBM22	55696	broad.mit.edu	37	5	150071443	150071443	+	Splice_Site	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:150071443C>A	ENST00000199814.4	-	11	1254	c.1133G>T	c.(1132-1134)gGt>gTt	p.G378V	RBM22_ENST00000540000.1_Splice_Site_p.G329V|RBM22_ENST00000447771.2_Splice_Site_p.G329V	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	378	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCAAAACCTGCAGATAC	0.483																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.e11-1		RNA binding motif protein 22							118.0	115.0	116.0					5																	150071443		2203	4300	6503	SO:0001630	splice_region_variant	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150071443C>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1133-1G>T	5.37:g.150071443C>A						RBM22_ENST00000540000.1_Splice_Site_p.G329_splice|RBM22_ENST00000447771.2_Splice_Site_p.G329_splice	p.G378_splice	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1254	-		Medulloblastoma(196;0.167)	378			Pro-rich.		A6NDM5|B4DLI9|O95607	Splice_Site	SNP	ENST00000199814.4	37	c.1132_splice	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564337	0.45694	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	5.68	0.88126	.	0.049596	0.85682	D	0.000000	T	0.39410	0.1077	L	0.46157	1.445	0.80722	D	1	P	0.37038	0.579	B	0.26864	0.074	T	0.24764	-1.0151	9	0.15066	T	0.55	.	13.0508	0.58954	0.0:0.9267:0.0:0.0733	.	378	Q9NW64	RBM22_HUMAN	V	378;329;329	.	ENSP00000199814:G378V	G	-	2	0	RBM22	150051636	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.731000	0.68554	2.702000	0.92279	0.655000	0.94253	GGT		0.483	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047	Missense_Mutation	39	50	1	0	4.92203e-23	0.819951	5.73558e-23	39	50				
PDZRN4	29951	broad.mit.edu	37	12	41967638	41967638	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:41967638G>C	ENST00000402685.2	+	10	3065	c.3057G>C	c.(3055-3057)aaG>aaC	p.K1019N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K759N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K761N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	1019							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGGGGCCAAGTCTCCAGATG	0.428																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2275-2277)aaG>aaC		PDZ domain containing ring finger 4							78.0	70.0	73.0					12																	41967638		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967638G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.3057G>C	12.37:g.41967638G>C	ENSP00000384197:p.Lys1019Asn					PDZRN4_ENST00000539469.2_Missense_Mutation_p.K761N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K1019N	p.K759N			Q6ZMN7	PZRN4_HUMAN			10	2665	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	1019					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2277G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506268	0.44558	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.75821	-0.97;-0.97;-0.97	4.78	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.67953	2.075	0.45777	D	0.998661	D;D;D	0.76494	0.999;0.995;0.98	P;D;P	0.70487	0.893;0.969;0.907	T	0.80407	-0.1395	10	0.87932	D	0	-32.4485	7.7648	0.28974	0.346:0.0:0.654:0.0	.	1019;759;761	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	1019;761;759	ENSP00000384197:K1019N;ENSP00000439990:K761N;ENSP00000298919:K759N	ENSP00000298919:K759N	K	+	3	2	PDZRN4	40253905	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.499000	0.35671	0.680000	0.31366	0.557000	0.71058	AAG		0.428	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		12	41	0	0	0	0.435327	0	12	41				
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	285	Pro-rich.							p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507													.|||	997	0.199081	0.2231	0.3617	5008	,	,		17318	0.1865		0.1839	False		,,,				2504	0.0798					ENST00000532254.1																			4	Substitution - Missense(4)	p.T285P(4)	urinary_tract(2)|endometrium(2)								c.(853-855)Act>Cct		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354353T>G		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.853A>C	16.37:g.28354353T>G	ENSP00000431871:p.Thr285Pro					NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	p.T285P							7	1538	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.853A>C		.	.	.	.	.	.	.	.	.	.	-	0.001	-4.151814	0.00001	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.24908	1.83;1.83	.	.	.	.	.	.	.	.	T	0.03915	0.0110	N	0.00823	-1.155	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	6	0.02654	T	1	.	.	.	.	rs1794256	285;267	E9PJ23;E9PS57	.;.	P	267;285	ENSP00000435924:T267P;ENSP00000431871:T285P	ENSP00000431871:T285P	T	-	1	0	RP11-57A19.3	28261854	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-2.356000	0.01087	-4.094000	0.00074	-4.079000	0.00012	ACT		0.507	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		3	26	0	0	0	0.184627	0	3	26				
RTN1	6252	broad.mit.edu	37	14	60069841	60069841	+	Splice_Site	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:60069841C>A	ENST00000267484.5	-	8	2565	c.2230G>T	c.(2230-2232)Gca>Tca	p.A744S	RTN1_ENST00000395090.1_Splice_Site_p.A161S|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Splice_Site_p.A176S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	744	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAATCTGTGCCTACATAAAG	0.363																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.e8-1		reticulon 1							103.0	92.0	95.0					14																	60069841		2203	4300	6503	SO:0001630	splice_region_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069841C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2230-1G>T	14.37:g.60069841C>A						RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Splice_Site_p.A161_splice|RTN1_ENST00000342503.4_Splice_Site_p.A176_splice	p.A744_splice	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	8	2565	-			744			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Splice_Site	SNP	ENST00000267484.5	37	c.2229_splice	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664001	0.67700	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.42131	0.98;0.98;0.98	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.58302	1.8	0.80722	D	1	B;D;B	0.71674	0.218;0.998;0.182	B;D;B	0.77004	0.14;0.989;0.177	T	0.62996	-0.6735	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	161;744;176	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	324;744;161;176;670	ENSP00000267484:A744S;ENSP00000378525:A161S;ENSP00000340716:A176S	ENSP00000267484:A744S	A	-	1	0	RTN1	59139594	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.089000	0.71384	2.861000	0.98227	0.655000	0.94253	GCA		0.363	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		Missense_Mutation	17	24	1	0	0.000422831	0.500413	0.000438377	17	24				
ATP6V0A2	23545	broad.mit.edu	37	12	124218515	124218515	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:124218515G>C	ENST00000330342.3	+	7	939	c.691G>C	c.(691-693)Gga>Cga	p.G231R		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	231					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATCCTTTTGGGGAGAGCAGAT	0.328																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(691-693)Gga>Cga		ATPase, H+ transporting, lysosomal V0 subunit a2							159.0	162.0	161.0					12																	124218515		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124218515G>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.691G>C	12.37:g.124218515G>C	ENSP00000332247:p.Gly231Arg						p.G231R	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	7	939	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		231					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.691G>C	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773525	0.90108	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87966	-2.32;-2.32	5.67	4.78	0.61160	.	0.048652	0.85682	N	0.000000	D	0.95652	0.8586	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.96877	0.9643	10	0.87932	D	0	-19.311	14.3552	0.66733	0.0711:0.0:0.9289:0.0	.	231;231	Q9Y487;Q8TBM3	VPP2_HUMAN;.	R	231;231;101	ENSP00000332247:G231R;ENSP00000443441:G101R	ENSP00000332247:G231R	G	+	1	0	ATP6V0A2	122784468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.401000	0.46761	0.591000	0.81541	GGA		0.328	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		38	95	0	0	0	0.859065	0	38	95				
OR2J2	26707	broad.mit.edu	37	6	29141716	29141716	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:29141716C>A	ENST00000377167.2	+	1	406	c.304C>A	c.(304-306)Ctt>Att	p.L102I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGGTTCAACTTTACTTTGT	0.473																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(304-306)Ctt>Att		olfactory receptor, family 2, subfamily J, member 2							238.0	217.0	224.0					6																	29141716		2043	4186	6229	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141716C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.304C>A	6.37:g.29141716C>A	ENSP00000366372:p.Leu102Ile						p.L102I	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	406	+			102					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.304C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761860	0.31228	.	.	ENSG00000204700	ENST00000377167	T	0.00340	8.04	2.3	0.0186	0.14117	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.65975	2.015	0.20821	N	0.999845	D	0.76494	0.999	D	0.83275	0.996	T	0.49399	-0.8944	9	0.56958	D	0.05	.	0.8363	0.01140	0.3467:0.3198:0.1838:0.1497	.	102	O76002	OR2J2_HUMAN	I	102	ENSP00000366372:L102I	ENSP00000366372:L102I	L	+	1	0	OR2J2	29249695	0.000000	0.05858	0.968000	0.41197	0.376000	0.30014	-1.737000	0.01843	0.280000	0.22209	0.205000	0.17691	CTT		0.473	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			13	179	1	0	4.26978e-12	0.654019	4.77808e-12	13	179				
SEPHS2	22928	broad.mit.edu	37	16	30455759	30455759	+	Silent	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr16:30455759G>T	ENST00000478753.2	-	1	1743	c.1290C>A	c.(1288-1290)gcC>gcA	p.A430A	SEPHS2_ENST00000500504.2_Silent_p.A430A|SEPHS2_ENST00000542752.1_Silent_p.A373A			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	430					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAGCAGCTGTGGCCCCACGAG	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1288-1290)gcC>gcA		selenophosphate synthetase 2							73.0	78.0	77.0					16																	30455759		2057	4197	6254	SO:0001819	synonymous_variant	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455759G>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1290C>A	16.37:g.30455759G>T						SEPHS2_ENST00000542752.1_Silent_p.A373A|SEPHS2_ENST00000500504.2_Silent_p.A430A	p.A430A			Q99611	SPS2_HUMAN			1	1743	-			430					Q9BUQ2	Silent	SNP	ENST00000478753.2	37	c.1290C>A																																																																																					0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		18	40	1	0	5.26018e-13	0.608945	5.93348e-13	18	40				
CNKSR2	22866	broad.mit.edu	37	X	21519646	21519646	+	Silent	SNP	A	A	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:21519646A>C	ENST00000379510.3	+	8	786	c.750A>C	c.(748-750)gcA>gcC	p.A250A	CNKSR2_ENST00000543067.1_Silent_p.A250A|CNKSR2_ENST00000425654.2_Silent_p.A250A|CNKSR2_ENST00000279451.4_Silent_p.A250A	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	250	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGTCACCTGCAGATCGGTGCA	0.343																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(748-750)gcA>gcC		connector enhancer of kinase suppressor of Ras 2							49.0	46.0	47.0					X																	21519646		2203	4299	6502	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21519646A>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.750A>C	X.37:g.21519646A>C						CNKSR2_ENST00000379510.3_Silent_p.A250A|CNKSR2_ENST00000279451.4_Silent_p.A250A|CNKSR2_ENST00000543067.1_Silent_p.A250A	p.A250A	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			8	1230	+			250			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.750A>C	CCDS14198.1																																																																																				0.343	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		10	28	0	0	0	0.411799	0	10	28				
HUWE1	10075	broad.mit.edu	37	X	53563622	53563622	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:53563622T>C	ENST00000342160.3	-	78	12601	c.12144A>G	c.(12142-12144)atA>atG	p.I4048M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4048M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4048	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTCAAATACTATATACCTGC	0.463																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12142-12144)atA>atG		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							32.0	30.0	31.0					X																	53563622		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563622T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12144A>G	X.37:g.53563622T>C	ENSP00000340648:p.Ile4048Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.I4048M	p.I4048M			Q7Z6Z7	HUWE1_HUMAN			78	12601	-			4048			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12144A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.664|9.664	1.144795|1.144795	0.21288|0.21288	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.54279|.	0.58;0.58|.	5.38|5.38	4.17|4.17	0.49024|0.49024	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.89715|0.89715	3.055|3.055	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.71674|.	0.988;0.998|.	D;D|.	0.81914|.	0.961;0.995|.	T|T	0.75750|0.75750	-0.3208|-0.3208	10|5	0.87932|.	D|.	0|.	.|.	6.6401|6.6401	0.22904|0.22904	0.1541:0.0:0.157:0.6889|0.1541:0.0:0.157:0.6889	.|.	4048;4032|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	M|G	4048|3082;871	ENSP00000340648:I4048M;ENSP00000262854:I4048M|.	ENSP00000262854:I4048M|.	I|S	-|-	3|1	3|0	HUWE1|HUWE1	53580347|53580347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.703000|0.703000	0.25646|0.25646	0.742000|0.742000	0.32697|0.32697	0.412000|0.412000	0.27726|0.27726	ATA|AGT		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	32	0	0	0	0.248553	0	6	32				
HTATIP2	10553	broad.mit.edu	37	11	20403771	20403771	+	Silent	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:20403771T>C	ENST00000451739.2	+	4	930	c.489T>C	c.(487-489)tcT>tcC	p.S163S	HTATIP2_ENST00000419348.2_Silent_p.S197S|HTATIP2_ENST00000421577.2_Silent_p.S163S|HTATIP2_ENST00000443524.2_Silent_p.S163S|HTATIP2_ENST00000531058.1_Silent_p.S117S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATCGTTACTCTGTATTTAGGC	0.358																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(487-489)tcT>tcC		HIV-1 Tat interactive protein 2, 30kDa							119.0	135.0	129.0					11																	20403771		2202	4300	6502	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20403771T>C	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.489T>C	11.37:g.20403771T>C						HTATIP2_ENST00000443524.2_Silent_p.S163S|HTATIP2_ENST00000531058.1_Silent_p.S117S|HTATIP2_ENST00000419348.2_Silent_p.S197S|HTATIP2_ENST00000421577.2_Silent_p.S163S	p.S163S	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			4	930	+			163						Silent	SNP	ENST00000451739.2	37	c.489T>C	CCDS7852.1																																																																																				0.358	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		21	39	0	0	0	0.654019	0	21	39				
CHID1	66005	broad.mit.edu	37	11	870149	870149	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:870149C>G	ENST00000449825.1	-	12	1411	c.1055G>C	c.(1054-1056)aGg>aCg	p.R352T	CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000323578.8_Missense_Mutation_p.R352T|CHID1_ENST00000436108.2_Missense_Mutation_p.R352T|CHID1_ENST00000528581.1_Missense_Mutation_p.R377T|CHID1_ENST00000336845.5_Missense_Mutation_p.R377T|CHID1_ENST00000454838.2_Missense_Mutation_p.R377T|CHID1_ENST00000323541.7_Missense_Mutation_p.R382T|CHID1_ENST00000429789.2_Missense_Mutation_p.R321T	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	352					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GACGACGTGCCTCCCACTGCG	0.667																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(1054-1056)aGg>aCg		chitinase domain containing 1							116.0	106.0	109.0					11																	870149		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:870149C>G	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1055G>C	11.37:g.870149C>G	ENSP00000391255:p.Arg352Thr					CHID1_ENST00000528581.1_Missense_Mutation_p.R377T|CHID1_ENST00000323541.7_Missense_Mutation_p.R382T|CHID1_ENST00000436108.2_Missense_Mutation_p.R352T|CHID1_ENST00000429789.2_Missense_Mutation_p.R321T|CHID1_ENST00000336845.5_Missense_Mutation_p.R377T|CHID1_ENST00000323578.8_Missense_Mutation_p.R352T|CHID1_ENST00000454838.2_Missense_Mutation_p.R377T	p.R352T	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1411	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	352					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.1055G>C	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.196|8.196	0.797089|0.797089	0.16327|0.16327	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.04970	.|3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52	3.46|3.46	2.54|2.54	0.30619|0.30619	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.107948	.|0.64402	.|D	.|0.000012	T|T	0.06872|0.06872	0.0175|0.0175	L|L	0.49350|0.49350	1.555|1.555	0.40582|0.40582	D|D	0.981407|0.981407	.|P;P;P;P;P	.|0.46512	.|0.879;0.879;0.799;0.853;0.718	.|B;B;B;B;B	.|0.43623	.|0.251;0.425;0.39;0.162;0.236	T|T	0.43556|0.43556	-0.9384|-0.9384	5|10	.|0.25106	.|T	.|0.35	-31.2959|-31.2959	6.7951|6.7951	0.23721|0.23721	0.0:0.8658:0.0:0.1342|0.0:0.8658:0.0:0.1342	.|.	.|413;382;321;377;352	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	D|T	66|382;352;377;352;321;377;377;352	.|ENSP00000324821:R382T;ENSP00000391255:R352T;ENSP00000398722:R377T;ENSP00000325055:R352T;ENSP00000416034:R321T;ENSP00000435503:R377T;ENSP00000338838:R377T;ENSP00000388156:R352T	.|ENSP00000324821:R382T	E|R	-|-	3|2	2|0	CHID1|CHID1	860149|860149	0.991000|0.991000	0.36638|0.36638	0.544000|0.544000	0.28141|0.28141	0.147000|0.147000	0.21601|0.21601	1.079000|1.079000	0.30766|0.30766	0.795000|0.795000	0.33922|0.33922	-0.379000|-0.379000	0.06801|0.06801	GAG|AGG		0.667	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		21	90	0	0	0	0.608945	0	21	90				
DAK	26007	broad.mit.edu	37	11	61109346	61109346	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:61109346C>A	ENST00000394900.3	+	7	846	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	206	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCCAAACCCACCTTCGAGCTC	0.592																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(616-618)aCc>aAc		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							136.0	125.0	129.0					11																	61109346		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109346C>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.617C>A	11.37:g.61109346C>A	ENSP00000378360:p.Thr206Asn						p.T206N	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			7	846	+			206			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.617C>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250556	0.95305	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29142	1.58;1.58	5.84	5.84	0.93424	Dak kinase (2);	0.105320	0.64402	D	0.000003	T	0.41119	0.1145	L	0.31926	0.97	0.80722	D	1	P;B	0.50528	0.936;0.082	P;B	0.54210	0.745;0.105	T	0.11227	-1.0596	10	0.59425	D	0.04	-37.4993	19.7385	0.96217	0.0:1.0:0.0:0.0	.	206;206	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	N	206;205	ENSP00000378360:T206N;ENSP00000432539:T205N	ENSP00000378360:T206N	T	+	2	0	DAK	60865922	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.185000	0.65076	2.769000	0.95229	0.563000	0.77884	ACC		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		39	89	1	0	1.49673e-21	0.819951	1.71577e-21	39	89				
DNAH2	146754	broad.mit.edu	37	17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:7721011G>A	ENST00000572933.1	+	66	11613	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3385	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(10153-10155)Gtc>Atc		dynein, axonemal, heavy chain 2							73.0	69.0	71.0					17																	7721011		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721011G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10153G>A	17.37:g.7721011G>A	ENSP00000458355:p.Val3385Ile					DNAH2_ENST00000389173.2_Missense_Mutation_p.V3385I	p.V3385I			Q9P225	DYH2_HUMAN			66	11613	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3385			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10153G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825460	0.71143	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61040	0.14	5.36	5.36	0.76844	.	0.077077	0.51477	D	0.000099	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.67900	0.923;0.954	T	0.72646	-0.4230	10	0.45353	T	0.12	.	17.8503	0.88744	0.0:0.0:1.0:0.0	.	3346;3385	Q9P225-2;Q9P225	.;DYH2_HUMAN	I	3346;3385	ENSP00000373825:V3385I	ENSP00000353818:V3346I	V	+	1	0	DNAH2	7661736	1.000000	0.71417	0.963000	0.40424	0.546000	0.35178	5.306000	0.65756	2.514000	0.84764	0.557000	0.71058	GTC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	89	0	0	0	0.361761	0	10	89				
DDX31	64794	broad.mit.edu	37	9	135535153	135535153	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr9:135535153C>G	ENST00000372159.3	-	5	933	c.782G>C	c.(781-783)aGt>aCt	p.S261T	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.S261T|DDX31_ENST00000438527.3_Missense_Mutation_p.S132T|DDX31_ENST00000372153.1_Missense_Mutation_p.S261T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	261						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CACAGGAATACTTTGCTTCTG	0.488																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(781-783)aGt>aCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							88.0	67.0	74.0					9																	135535153		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135535153C>G	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.782G>C	9.37:g.135535153C>G	ENSP00000361232:p.Ser261Thr					DDX31_ENST00000438527.3_Missense_Mutation_p.S132T|DDX31_ENST00000372153.1_Missense_Mutation_p.S261T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.S261T	p.S261T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	5	933	-			261					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.782G>C	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291942	0.23564	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.41400	2.35;1.0;2.35;1.0	5.7	4.8	0.61643	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.081237	0.85682	N	0.000000	T	0.27205	0.0667	N	0.13043	0.29	0.80722	D	1	B;B;B	0.29909	0.22;0.22;0.261	B;B;B	0.32090	0.058;0.095;0.14	T	0.05716	-1.0868	10	0.13853	T	0.58	-13.1369	14.7058	0.69189	0.0:0.5584:0.4416:0.0	.	261;261;261	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	T	261;261;261;132;261	ENSP00000361232:S261T;ENSP00000361226:S261T;ENSP00000387730:S132T;ENSP00000310539:S261T	ENSP00000310539:S261T	S	-	2	0	DDX31	134524974	1.000000	0.71417	0.428000	0.26697	0.988000	0.76386	3.832000	0.55783	1.399000	0.46721	-0.211000	0.12701	AGT		0.488	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		6	13	0	0	0	0.217242	0	6	13				
TENM1	10178	broad.mit.edu	37	X	123517773	123517773	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:123517773G>T	ENST00000371130.3	-	29	7050	c.6987C>A	c.(6985-6987)agC>agA	p.S2329R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2336R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2329					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTGACCTCGGCTGCTGAACA	0.433																																						ENST00000422452.2																			0											c.(7006-7008)agC>agA		teneurin transmembrane protein 1							93.0	84.0	87.0					X																	123517773		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123517773G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6987C>A	X.37:g.123517773G>T	ENSP00000360171:p.Ser2329Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S2329R	p.S2336R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	7071	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7008C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292618	0.40594	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86432	-2.12;-2.08	5.88	1.43	0.22495	.	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.72479	2.2	0.58432	D	0.999995	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.986;0.994;0.988	D	0.86589	0.1859	10	0.27785	T	0.31	.	11.0082	0.47646	0.4146:0.0:0.5854:0.0	.	2335;2336;2329	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2329;2336	ENSP00000360171:S2329R;ENSP00000403954:S2336R	ENSP00000360171:S2329R	S	-	3	2	ODZ1	123345454	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.159000	0.31749	-0.195000	0.10382	-0.340000	0.08031	AGC		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		41	65	1	0	2.35958e-20	0.847076	2.68308e-20	41	65				
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																						ENST00000412962.1																			4	Substitution - coding silent(4)	p.H56H(4)	prostate(3)|endometrium(1)																																																84809							g.chr1:16959698G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959698G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	44	0	0	0	0.184627	0	5	44				
WDR5	11091	broad.mit.edu	37	9	137007499	137007499	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr9:137007499T>G	ENST00000358625.3	+	6	570	c.399T>G	c.(397-399)ttT>ttG	p.F133L	WDR5_ENST00000425041.1_Missense_Mutation_p.F133L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	133		Important for interaction with histone H3.			chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTATGTCTTTTGCTGCAACT	0.473																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(397-399)ttT>ttG		WD repeat domain 5							142.0	137.0	139.0					9																	137007499		2203	4300	6503	SO:0001583	missense	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137007499T>G	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.399T>G	9.37:g.137007499T>G	ENSP00000351446:p.Phe133Leu					WDR5_ENST00000425041.1_Missense_Mutation_p.F133L	p.F133L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	6	570	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	133				Important for interaction with histone H3.	Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	c.399T>G	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250326	0.80024	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.58797	0.31;0.31	4.36	-5.83	0.02325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	N	0.04636	-0.2	0.80722	D	1	P	0.48350	0.909	P	0.51866	0.682	T	0.48822	-0.9001	10	0.36615	T	0.2	.	18.6388	0.91387	0.0:0.8425:0.0:0.1575	.	133	P61964	WDR5_HUMAN	L	133	ENSP00000351446:F133L;ENSP00000401889:F133L	ENSP00000351446:F133L	F	+	3	2	WDR5	135997320	0.938000	0.31826	0.936000	0.37596	0.974000	0.67602	0.040000	0.13905	-1.222000	0.02587	-0.451000	0.05528	TTT		0.473	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		22	57	0	0	0	0.654019	0	22	57				
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:155254706C>T	ENST00000461007.1	+	0	3622				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637													c|||	392	0.0782748	0.0121	0.2233	5008	,	,		28320	0.0615		0.1352	False		,,,				2504	0.0235					ENST00000285718.7																			2	Substitution - Missense(2)	p.T415M(2)	kidney(2)																																																653440							g.chrX:155254706C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254706C>T						WASH6P_ENST00000461007.1_RNA								0	1151	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37			.	.	.	.	.	.	.	.	.	.	c	13.63	2.293922	0.40594	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.155800	0.56097	N	0.000022	T	0.38983	0.1061	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	6	0.62326	D	0.03	-19.9253	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	M	415;384	.	ENSP00000285718:T384M	T	+	2	0	WASH6P	154907900	0.648000	0.27313	0.679000	0.29978	0.260000	0.26232	2.495000	0.45337	0.418000	0.25898	0.171000	0.16805	ACG		0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	6	0	0	0	0.150653	0	4	6				
ADAM20	8748	broad.mit.edu	37	14	70991488	70991488	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:70991488T>G	ENST00000256389.3	-	2	381	c.137A>C	c.(136-138)aAt>aCt	p.N46T	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAAGCTGTCATTATGGAGCCA	0.527																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(136-138)aAt>aCt		ADAM metallopeptidase domain 20							159.0	118.0	132.0					14																	70991488		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991488T>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.137A>C	14.37:g.70991488T>G	ENSP00000256389:p.Asn46Thr					RP11-486O13.4_ENST00000556646.1_lincRNA	p.N46T	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	381	-			0					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.137A>C	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	7.172	0.587768	0.13812	.	.	ENSG00000134007	ENST00000256389	T	0.00958	5.5	2.43	0.0263	0.14149	.	.	.	.	.	T	0.00875	0.0029	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48917	-0.8992	6	0.32370	T	0.25	.	3.9092	0.09196	0.0:0.3488:0.1944:0.4567	.	.	.	.	T	46	ENSP00000256389:N46T	ENSP00000256389:N46T	N	-	2	0	ADAM20	70061241	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.130000	0.15850	0.185000	0.20105	-0.334000	0.08254	AAT		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			41	62	0	0	0	0.834066	0	41	62				
COL1A2	1278	broad.mit.edu	37	7	94029506	94029506	+	Splice_Site	SNP	A	A	T	rs113180440		TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:94029506A>T	ENST00000297268.6	+	5	603		c.e5-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTACATAACAGGGTCCACCA	0.532										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e5-1		collagen, type I, alpha 2	Collagenase(DB00048)						82.0	85.0	84.0					7																	94029506		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94029506A>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.133-1A>T	7.37:g.94029506A>T		HNSCC(75;0.22)						NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	603	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)							P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37		CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756548	0.69648	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9619	0.79936	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93867442	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	8.653000	0.91088	2.308000	0.77769	0.533000	0.62120	.		0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Intron	42	90	0	0	0	0.859065	0	42	90				
MT-ND4	4538	broad.mit.edu	37	M	12005	12005	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrM:12005T>C	ENST00000361381.2	+	1	1246	c.1246T>C	c.(1246-1248)Tgg>Cgg	p.W416R	MT-CYB_ENST00000361789.2_5'Flank|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	416					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCACAACACAATGGGGCTCAC	0.443																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1246-1248)Tgg>Cgg		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:12005T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1246T>C	M.37:g.12005T>C	ENSP00000354961:p.Trp416Arg						p.416_416insR							1	1246	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1246T>C																																																																																					0.443	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		2	0	0	0	0	0.115264	0	2	0				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	101	0	0	0	0.150653	0	4	101				
MTA3	57504	broad.mit.edu	37	2	42924943	42924943	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr2:42924943A>T	ENST00000405094.1	+	11	994	c.994A>T	c.(994-996)Agt>Tgt	p.S332C	MTA3_ENST00000406652.1_Missense_Mutation_p.S276C|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Missense_Mutation_p.S332C|MTA3_ENST00000405592.1_Missense_Mutation_p.S276C|MTA3_ENST00000407270.3_Missense_Mutation_p.S332C			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	332						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AGAAGCTGAGAGTAAACTGAA	0.264																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(826-828)Agt>Tgt		metastasis associated 1 family, member 3							51.0	50.0	50.0					2																	42924943		1790	4060	5850	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42924943A>T	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.994A>T	2.37:g.42924943A>T	ENSP00000385823:p.Ser332Cys					MTA3_ENST00000405094.1_Missense_Mutation_p.S332C|MTA3_ENST00000407270.3_Missense_Mutation_p.S332C|MTA3_ENST00000406652.1_Missense_Mutation_p.S276C|MTA3_ENST00000406911.1_Missense_Mutation_p.S332C|MTA3_ENST00000472767.1_3'UTR	p.S276C			Q9BTC8	MTA3_HUMAN			12	1496	+			332			SANT.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.826A>T		.	.	.	.	.	.	.	.	.	.	A	21.6	4.174894	0.78564	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.52754	0.67;0.67;0.68;0.7;0.65	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74023	0.95;0.959;0.982	T	0.69150	-0.5221	10	0.51188	T	0.08	-8.3088	14.8082	0.69974	1.0:0.0:0.0:0.0	.	332;332;276	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	C	276;276;332;332;332;332	ENSP00000383973:S276C;ENSP00000384249:S276C;ENSP00000385045:S332C;ENSP00000385241:S332C;ENSP00000385823:S332C	ENSP00000282366:S332C	S	+	1	0	MTA3	42778447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.688000	0.91260	1.975000	0.57531	0.533000	0.62120	AGT		0.264	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		5	7	0	0	0	0.184627	0	5	7				
TRNAU1AP	54952	broad.mit.edu	37	1	28906820	28906820	+	IGR	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:28906820delA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000488745.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						actccgtctcaaaaaaaaaaa	0.493																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	85028							g.chr1:28906820delA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906820delA						SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA								0	1100	-								Q86SU7	RNA	DEL	ENST00000373830.3	37		CCDS324.1																																																																																				0.493	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	3						3	3	---	---	---	---
DUSP12	11266	broad.mit.edu	37	1	161722158	161722158	+	Splice_Site	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr1:161722158delA	ENST00000367943.4	+	4	610	c.578delA	c.(577-579)gaa>ga	p.E193fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	193					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGTCATATAGAATTGCAGAAT	0.338																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.e4-1		dual specificity phosphatase 12							86.0	97.0	93.0					1																	161722158		2203	4298	6501	SO:0001630	splice_region_variant	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161722158delA	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.578-1A>-	1.37:g.161722158delA						DUSP12_ENST00000484291.1_3'UTR	p.E193_splice	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		4	610	+	all_hematologic(112;0.0359)		193					Q5VXA8	Splice_Site	DEL	ENST00000367943.4	37	c.577_splice	CCDS1234.1																																																																																				0.338	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240	Frame_Shift_Del	36	100						36	100	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52651547	52651548	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:52651547_52651548delTC	ENST00000296302.7	-	14	1549_1550	c.1548_1549delGA	c.(1546-1551)aagaacfs	p.N517fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N532fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N532fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N517fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N517fs			Q86U86	PB1_HUMAN	polybromo 1	517					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTCTTATGTTCTTTTTACTGT	0.351			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1450-1455)aaacfs		polybromo 1																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651547_52651548delTC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1548_1549delGA	3.37:g.52651547_52651548delTC	ENSP00000296302:p.Asn517fs					PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KN531fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KN516fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KN531fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KN516fs	p.KN484fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1454_1455	-			516					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.1452_1453delGA																																																																																					0.351	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	23						30	23	---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195794940	195794941	+	In_Frame_Ins	INS	-	-	ATT			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr3:195794940_195794941insATT	ENST00000360110.4	-	8	1031_1032	c.862_863insAAT	c.(862-864)ttt>tAATtt	p.287_288ins*	TFRC_ENST00000420415.1_In_Frame_Ins_p.206_207ins*|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_In_Frame_Ins_p.5_6ins*|TFRC_ENST00000392396.3_In_Frame_Ins_p.287_288ins*	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	287	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AACAATGGGAAATTTAGTCTGG	0.347			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(862-864)tcc>AATtcc		transferrin receptor																																				SO:0001652	inframe_insertion	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195794940_195794941insATT	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.860_862dupAAT	3.37:g.195794941_195794943dupATT	ENSP00000353224:p.Phe288*					TFRC_ENST00000535031.1_In_Frame_Ins_p.5_6insN|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_In_Frame_Ins_p.206_207insN|TFRC_ENST00000392396.3_In_Frame_Ins_p.287_288insN	p.287_288insN	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	8	1031_1032	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		287			PA.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	In_Frame_Ins	INS	ENST00000360110.4	37	c.862_863insAAT	CCDS3312.1																																																																																				0.347	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			59	35						59	35	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16257878	16257878	+	RNA	DEL	A	A	-	rs567226815	byFrequency	TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr4:16257878delA	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TTTTTTTTTTAGGTTTTCACT	0.378																																						ENST00000570786.1																			0																																																			202020							g.chr4:16257878delA			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257878delA						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	234	+									RNA	DEL	ENST00000570786.1	37																																																																																						0.378	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		2	4						2	4	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80381640	80381640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:80381640delC	ENST00000265080.4	+	8	1248	c.1181delC	c.(1180-1182)acafs	p.T394fs	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	394	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TATATCATCACACTCCATGAG	0.502																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1180-1182)aafs		Ras protein-specific guanine nucleotide-releasing factor 2							129.0	125.0	127.0					5																	80381640		2203	4300	6503	SO:0001589	frameshift_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80381640delC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1181delC	5.37:g.80381640delC	ENSP00000265080:p.Thr394fs					RASGRF2_ENST00000502677.1_3'UTR	p.T394fs	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	8	1248	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	394			DH.		B9EG89|Q9UK56	Frame_Shift_Del	DEL	ENST00000265080.4	37	c.1181delC	CCDS4052.1																																																																																				0.502	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		32	103						32	103	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94207041	94207041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:94207041delT	ENST00000515393.1	-	14	2117	c.2118delA	c.(2116-2118)aaafs	p.K706fs	MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K222fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K439fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	706	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTATAGCAACTTTGCCCAGAA	0.358																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2116-2118)aafs		multiple C2 domains, transmembrane 1							96.0	90.0	92.0					5																	94207041		2203	4300	6503	SO:0001589	frameshift_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94207041delT		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2118delA	5.37:g.94207041delT	ENSP00000424126:p.Lys706fs					MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K222fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K439fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K485fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K485fs	p.K706fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	14	2117	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	706			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	ENST00000515393.1	37	c.2118delA	CCDS34203.1																																																																																				0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		34	94						34	94	---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138707769	138707769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:138707769delA	ENST00000348729.3	-	14	1769	c.1723delT	c.(1723-1725)tcafs	p.S575fs	CTB-43P18.1_ENST00000503553.3_RNA|SLC23A1_ENST00000353963.3_Frame_Shift_Del_p.S579fs	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	575					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGATCTTTTGAACTTGAAGAA	0.398																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(1735-1737)cafs		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						156.0	155.0	155.0					5																	138707769		2203	4300	6503	SO:0001589	frameshift_variant	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138707769delA	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1723delT	5.37:g.138707769delA	ENSP00000302701:p.Ser575fs					SLC23A1_ENST00000348729.3_Frame_Shift_Del_p.S575fs	p.S579fs	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	1773	-			575					O95191|Q8WWB6|Q9UGH4|Q9UI39	Frame_Shift_Del	DEL	ENST00000348729.3	37	c.1735delT	CCDS4212.1																																																																																				0.398	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		172	181						172	181	---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179291015	179291015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr5:179291015delT	ENST00000356834.3	-	22	3223	c.3186delA	c.(3184-3186)ggafs	p.G1062fs	TBC1D9B_ENST00000444477.2_Frame_Shift_Del_p.G203fs|TBC1D9B_ENST00000519746.1_Frame_Shift_Del_p.G221fs|TBC1D9B_ENST00000355235.3_Frame_Shift_Del_p.G1045fs|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1062						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCACCTCTCCGATGCGGA	0.617																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(3184-3186)ggfs		TBC1 domain family, member 9B (with GRAM domain)							57.0	45.0	49.0					5																	179291015		2203	4300	6503	SO:0001589	frameshift_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179291015delT	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3186delA	5.37:g.179291015delT	ENSP00000349291:p.Gly1062fs					TBC1D9B_ENST00000444477.2_Frame_Shift_Del_p.G203fs|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Frame_Shift_Del_p.G1045fs|TBC1D9B_ENST00000519746.1_Frame_Shift_Del_p.G221fs	p.G1062fs	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		22	3223	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1062					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Del	DEL	ENST00000356834.3	37	c.3186delA	CCDS43408.1																																																																																				0.617	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		49	56						49	56	---	---	---	---
IL20RA	53832	broad.mit.edu	37	6	137322979	137322979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr6:137322979delG	ENST00000316649.5	-	7	1613	c.1378delC	c.(1378-1380)ctgfs	p.L460fs	IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Frame_Shift_Del_p.L411fs|IL20RA_ENST00000367748.1_Frame_Shift_Del_p.L349fs	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	460					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCCTGCGCCAGGGGGTCTAAG	0.587																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1045-1047)tgfs		interleukin 20 receptor, alpha							72.0	71.0	71.0					6																	137322979		2203	4300	6503	SO:0001589	frameshift_variant	53832					integral to membrane	receptor activity	g.chr6:137322979delG	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1378delC	6.37:g.137322979delG	ENSP00000314976:p.Leu460fs					IL20RA_ENST00000541547.1_Frame_Shift_Del_p.L411fs|IL20RA_ENST00000316649.5_Frame_Shift_Del_p.L460fs	p.L349fs			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1631	-	Colorectal(23;0.24)		460					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Frame_Shift_Del	DEL	ENST00000316649.5	37	c.1045delC	CCDS5181.1																																																																																				0.587	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		29	98						29	98	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100352939	100352939	+	RNA	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr7:100352939delA	ENST00000348028.3	+	0	3380				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCTGTCGGGAGGGCTGTGTC	0.557																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							119.0	124.0	122.0					7																	100352939		1929	4133	6062			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352939delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352939delA						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3363	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.557	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		62	136						62	136	---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77672030	77672030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr11:77672030delG	ENST00000534064.1	-	5	660	c.626delC	c.(625-627)ccafs	p.P209fs	INTS4_ENST00000529807.1_Frame_Shift_Del_p.P209fs	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	209					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TCTGACACGTGGGTCTTGGTC	0.408																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(625-627)cafs		integrator complex subunit 4							218.0	208.0	212.0					11																	77672030		2200	4292	6492	SO:0001589	frameshift_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77672030delG	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.626delC	11.37:g.77672030delG	ENSP00000434466:p.Pro209fs					INTS4_ENST00000529807.1_Frame_Shift_Del_p.P209fs	p.P209fs	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		5	660	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		209					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Frame_Shift_Del	DEL	ENST00000534064.1	37	c.626delC	CCDS31644.1																																																																																				0.408	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		85	179						85	179	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53452893	53452893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr12:53452893delC	ENST00000314250.6	+	18	1758	c.1468delC	c.(1468-1470)cccfs	p.P490fs	TENC1_ENST00000314276.3_Frame_Shift_Del_p.P500fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.P366fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.P490fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	490	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCGGCCTCCCCGGCAGAC	0.682																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1468-1470)ccfs		tensin like C1 domain containing phosphatase (tensin 2)							37.0	44.0	42.0					12																	53452893		2202	4298	6500	SO:0001589	frameshift_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452893delC	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1468delC	12.37:g.53452893delC	ENSP00000319684:p.Pro490fs					TENC1_ENST00000314276.3_Frame_Shift_Del_p.P500fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.P490fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.P366fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.P490fs	p.P490fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1758	+			490			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	ENST00000314250.6	37	c.1468delC	CCDS8843.1																																																																																				0.682	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		17	43						17	43	---	---	---	---
MAX	4149	broad.mit.edu	37	14	65544727	65544727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:65544727delC	ENST00000358664.4	-	4	329	c.199delG	c.(199-201)gccfs	p.A67fs	MAX_ENST00000557746.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555667.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Frame_Shift_Del_p.A31fs|MAX_ENST00000556979.1_Frame_Shift_Del_p.A67fs|MAX_ENST00000284165.6_Frame_Shift_Del_p.A67fs|MAX_ENST00000358402.4_Frame_Shift_Del_p.A58fs	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	67	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TATTCTGTGGCTTTGTCTAGG	0.493																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(199-201)ccfs		MYC associated factor X							122.0	106.0	111.0					14																	65544727		2203	4300	6503	SO:0001589	frameshift_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544727delC		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.199delG	14.37:g.65544727delC	ENSP00000351490:p.Ala67fs					MAX_ENST00000557746.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000358664.4_Frame_Shift_Del_p.A67fs|MAX_ENST00000556443.1_Frame_Shift_Del_p.A58fs|MAX_ENST00000358402.4_Frame_Shift_Del_p.A58fs|MAX_ENST00000555419.1_Frame_Shift_Del_p.A31fs|MAX_ENST00000556979.1_Frame_Shift_Del_p.A67fs|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron	p.A67fs	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	347	-			67			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Frame_Shift_Del	DEL	ENST00000358664.4	37	c.199delG	CCDS9771.1																																																																																				0.493	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		19	42						19	42	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75230946	75230947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr14:75230946_75230947insC	ENST00000552421.1	+	1	878_879	c.754_755insC	c.(754-756)gccfs	p.A252fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.A252fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.A252fs			P49750	YLPM1_HUMAN	YLP motif containing 1	252					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCACCGTCCGCCCCCCCTGGA	0.579																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(754-756)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230946_75230947insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.761dupC	14.37:g.75230953_75230953dupC	ENSP00000447921:p.Ala252fs					YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P252fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.P252fs	p.P252fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	878_879	+			92					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.754_755insC																																																																																					0.579	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		18	27						18	27	---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94942208	94942208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr15:94942208delA	ENST00000357742.4	+	14	1807	c.1807delA	c.(1807-1809)aatfs	p.N603fs	MCTP2_ENST00000557742.1_Frame_Shift_Del_p.N191fs|MCTP2_ENST00000451018.3_Frame_Shift_Del_p.N603fs|MCTP2_ENST00000331706.4_Frame_Shift_Del_p.N191fs	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	603					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGACAACCGAATTGTTATGT	0.318																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1807-1809)atfs		multiple C2 domains, transmembrane 2							101.0	108.0	106.0					15																	94942208		2197	4297	6494	SO:0001589	frameshift_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94942208delA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1807delA	15.37:g.94942208delA	ENSP00000350377:p.Asn603fs					MCTP2_ENST00000557742.1_Frame_Shift_Del_p.N191fs|MCTP2_ENST00000451018.3_Frame_Shift_Del_p.N603fs|MCTP2_ENST00000331706.4_Frame_Shift_Del_p.N191fs	p.N603fs	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		14	1807	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		603					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	37	c.1807delA	CCDS32338.1																																																																																				0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		29	57						29	57	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	28022532	28022533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chr17:28022532_28022533insG	ENST00000269033.3	-	4	371_372	c.220_221insC	c.(220-222)caafs	p.Q74fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.Q101fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	74					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGATGCTGTTGGAGATCGCCT	0.376																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(220-222)acafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:28022532_28022533insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.221dupC	17.37:g.28022534_28022534dupG	ENSP00000269033:p.Gln74fs					SSH2_ENST00000540801.1_Frame_Shift_Ins_p.T101fs|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	p.T74fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			4	371_372	-			74					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.220_221insC	CCDS11253.1																																																																																				0.376	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		38	74						38	74	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122748006	122748007	+	Frame_Shift_Ins	INS	-	-	TGGACAGTGG			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:122748006_122748007insTGGACAGTGG	ENST00000245838.8	-	34	4376_4377	c.4345_4346insCCACTGTCCA	c.(4345-4347)aagfs	p.K1449fs	THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1334fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1449fs|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1449	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCCTTACTCTTGGACAGTGGT	0.361																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(4345-4347)gagfs		THO complex 2																																				SO:0001589	frameshift_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122748006_122748007insTGGACAGTGG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4336_4345dupCCACTGTCCA	X.37:g.122748007_122748016dupTGGACAGTGG	ENSP00000245838:p.Lys1449fs					THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1334fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1449fs	p.E1449fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			34	4376_4377	-			1449			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	ENST00000245838.8	37	c.4345_4346insCCACTGTCCA	CCDS43988.1																																																																																				0.361	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			17	158						17	158	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123200270	123200280	+	Frame_Shift_Del	DEL	AAAGCAGCTCT	AAAGCAGCTCT	-			TCGA-B0-5712-01A-11D-1669-08	TCGA-B0-5712-11A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bb18fc9-538b-4f01-8fd2-627e55dfd2e4	a8477a84-8b4d-4260-931a-35d03d574e09	g.chrX:123200270_123200280delAAAGCAGCTCT	ENST00000371160.1	+	23	2539_2549	c.2249_2259delAAAGCAGCTCT	c.(2248-2259)gaaagcagctctfs	p.ESSS750fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.ESSS681fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.ESSS750fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	750					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGATAACTGAAAGCAGCTCTACAAAGGTTT	0.327																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2248-2259)gfs		stromal antigen 2																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200270_123200280delAAAGCAGCTCT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2249_2259delAAAGCAGCTCT	X.37:g.123200270_123200280delAAAGCAGCTCT	ENSP00000360202:p.Glu750fs					STAG2_ENST00000354548.5_Frame_Shift_Del_p.ESSS681fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.ESSS750fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.ESSS750fs	p.ESSS750fs			Q8N3U4	STAG2_HUMAN			23	2539_2549	+			750					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.2249_2259delAAAGCAGCTCT	CCDS14607.1																																																																																				0.327	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		18	78						18	78	---	---	---	---
