#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
GRIA3	2892	broad.mit.edu	37	X	122599615	122599615	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:122599615C>T	ENST00000371251.1	+	14	2467	c.2415C>T	c.(2413-2415)tgC>tgT	p.C805C	GRIA3_ENST00000264357.5_Silent_p.C805C|GRIA3_ENST00000542149.1_Silent_p.C805C|GRIA3_ENST00000371256.5_Intron|AL356213.1_ENST00000577653.1_RNA			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	805					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.C805C(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AAGGAGAGTGCGGCAGCGGGG	0.468																																						ENST00000264357.5																			1	Substitution - coding silent(1)	p.C805C(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2413-2415)tgC>tgT		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						76.0	67.0	70.0					X																	122599615		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122599615C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2415C>T	X.37:g.122599615C>T						GRIA3_ENST00000371251.1_Silent_p.C805C|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Silent_p.C805C	p.C805C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			14	2707	+			805					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2415C>T	CCDS14604.1																																																																																				0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		7	54	0	0	0	1	0	7	54				
KIAA1033	23325	broad.mit.edu	37	12	105505022	105505022	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:105505022C>T	ENST00000332180.5	+	2	268	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGATTTCAATCTTGATCCTAT	0.299																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(181-183)Ctt>Ttt		KIAA1033							69.0	63.0	65.0					12																	105505022		1798	4064	5862	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105505022C>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.181C>T	12.37:g.105505022C>T	ENSP00000328062:p.Leu61Phe						p.L61F	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			2	268	+			61						Missense_Mutation	SNP	ENST00000332180.5	37	c.181C>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393014	0.62066	.	.	ENSG00000136051	ENST00000332180	T	0.33438	1.41	5.63	4.73	0.59995	.	0.058752	0.64402	D	0.000001	T	0.29817	0.0745	L	0.53249	1.67	0.80722	D	1	B;B	0.32160	0.358;0.358	B;B	0.34093	0.175;0.175	T	0.03728	-1.1009	10	0.21540	T	0.41	.	13.9578	0.64160	0.0:0.9274:0.0:0.0726	.	61;61	B7ZKT9;Q2M389	.;WASH7_HUMAN	F	61	ENSP00000328062:L61F	ENSP00000328062:L61F	L	+	1	0	KIAA1033	104029152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.935000	0.70145	2.646000	0.89796	0.462000	0.41574	CTT		0.299	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		4	43	0	0	0	1	0	4	43				
PCDH11X	27328	broad.mit.edu	37	X	91873367	91873367	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:91873367C>T	ENST00000373094.1	+	7	4317	c.3472C>T	c.(3472-3474)Ctg>Ttg	p.L1158L	PCDH11X_ENST00000298274.8_Silent_p.L1121L|PCDH11X_ENST00000373088.1_Silent_p.L1121L|PCDH11X_ENST00000406881.1_Silent_p.L1150L|PCDH11X_ENST00000373097.1_Silent_p.L1148L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.L1140L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1158					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCGGCATCTCTGGATCATTC	0.532																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3472-3474)Ctg>Ttg		protocadherin 11 X-linked							107.0	92.0	97.0					X																	91873367		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873367C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3472C>T	X.37:g.91873367C>T						PCDH11X_ENST00000361655.2_Silent_p.L1140L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Silent_p.L1121L|PCDH11X_ENST00000406881.1_Silent_p.L1150L|PCDH11X_ENST00000373097.1_Silent_p.L1148L|PCDH11X_ENST00000373088.1_Silent_p.L1121L	p.L1158L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4317	+			1158					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3472C>T	CCDS14461.1																																																																																				0.532	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		20	67	0	0	0	1	0	20	67				
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(151-153)gCg>gTg		retinoic acid early transcript 1G							99.0	100.0	100.0					6																	150240886		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240886G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val					RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	219	-		Ovarian(120;0.0907)	51			MHC class I alpha-1 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.152C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG		0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	197	0	0	0	1	0	5	197				
NLRP5	126206	broad.mit.edu	37	19	56539108	56539108	+	Silent	SNP	C	C	T	rs200383789		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:56539108C>T	ENST00000390649.3	+	7	1509	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTGCACGCCGCTTTTGTGT	0.632													c|||	1	0.000199681	0.0	0.0014	5008	,	,		18634	0.0		0.0	False		,,,				2504	0.0					ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1507-1509)gcC>gcT		NLR family, pyrin domain containing 5							33.0	35.0	35.0					19																	56539108		2122	4227	6349	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539108C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1509C>T	19.37:g.56539108C>T							p.A503A	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1509	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	503			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1509C>T	CCDS12938.1																																																																																				0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		15	32	0	0	0	1	0	15	32				
CASR	846	broad.mit.edu	37	3	121973189	121973189	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:121973189C>G	ENST00000490131.1	+	2	525	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CASR_ENST00000498619.1_Silent_p.L51L|CASR_ENST00000296154.5_Silent_p.L51L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	51					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATCAAGATCTCAAATCAAGGC	0.498																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(151-153)ctC>ctG		calcium-sensing receptor	Cinacalcet(DB01012)						66.0	69.0	68.0					3																	121973189		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121973189C>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.153C>G	3.37:g.121973189C>G						CASR_ENST00000490131.1_Silent_p.L51L|CASR_ENST00000296154.5_Silent_p.L51L	p.L51L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	2	591	+			51					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.153C>G	CCDS3010.1																																																																																				0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		16	106	0	0	0	1	0	16	106				
RNF213	57674	broad.mit.edu	37	17	78321214	78321214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:78321214C>T	ENST00000582970.1	+	29	9222	c.9079C>T	c.(9079-9081)Cag>Tag	p.Q3027*	RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q1100*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q3076*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3027					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGGCCTTCTCAGAAGGTGCC	0.532																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9079-9081)Cag>Tag		ring finger protein 213							55.0	51.0	52.0					17																	78321214		2203	4300	6503	SO:0001587	stop_gained	57674							g.chr17:78321214C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9079C>T	17.37:g.78321214C>T	ENSP00000464087:p.Gln3027*					RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q1100*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q3076*	p.Q3027*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9222	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.9079C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	48	14.470440	0.99797	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.15	1.91	0.25777	.	1.602430	0.03672	N	0.244133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.5075	0.55989	0.1155:0.4062:0.4784:0.0	.	.	.	.	X	3027;3076;1100	.	ENSP00000338218:Q1100X	Q	+	1	0	RNF213	75935809	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.318000	0.33643	0.156000	0.19299	-0.300000	0.09419	CAG		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	79	0	0	0	1	0	7	79				
DSC2	1824	broad.mit.edu	37	18	28662356	28662356	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662356C>A	ENST00000280904.6	-	9	1554	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	DSC2_ENST00000251081.6_Missense_Mutation_p.V371L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	371	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGATTTCCACATCAACTGTA	0.323																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1111-1113)Gtg>Ttg		desmocollin 2							88.0	83.0	85.0					18																	28662356		2201	4299	6500	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662356C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1111G>T	18.37:g.28662356C>A	ENSP00000280904:p.Val371Leu					DSC2_ENST00000251081.6_Missense_Mutation_p.V371L	p.V371L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1554	-			371			Cadherin 3.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1111G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163296	0.78226	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.52526	0.66;0.66	5.91	5.04	0.67666	Cadherin (3);Cadherin-like (1);	0.000000	0.29830	N	0.011098	T	0.63224	0.2493	M	0.74467	2.265	0.39882	D	0.973656	D;D	0.55605	0.972;0.966	P;P	0.60609	0.877;0.805	T	0.68458	-0.5403	10	0.72032	D	0.01	.	10.0213	0.42044	0.0:0.8449:0.0:0.1551	.	371;371	Q02487;Q02487-2	DSC2_HUMAN;.	L	371;371;137;384	ENSP00000251081:V371L;ENSP00000280904:V371L	ENSP00000251081:V371L	V	-	1	0	DSC2	26916354	0.001000	0.12720	0.998000	0.56505	0.911000	0.54048	0.604000	0.24164	1.502000	0.48669	0.650000	0.86243	GTG		0.323	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		7	27	1	0	8.12818e-05	1	8.3397e-05	7	27				
UBR1	197131	broad.mit.edu	37	15	43350596	43350596	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43350596G>A	ENST00000290650.4	-	10	1203	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	UBR1_ENST00000382177.2_Silent_p.F375F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	375					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAACTGCTGAAGATCAATT	0.348																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1123-1125)ttC>ttT		ubiquitin protein ligase E3 component n-recognin 1							35.0	39.0	38.0					15																	43350596		2200	4299	6499	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43350596G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1125C>T	15.37:g.43350596G>A						UBR1_ENST00000382177.2_Silent_p.F375F	p.F375F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	10	1203	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	375					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.1125C>T	CCDS10091.1																																																																																				0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		6	53	0	0	0	1	0	6	53				
KIFC2	90990	broad.mit.edu	37	8	145694699	145694699	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145694699C>G	ENST00000301332.2	+	11	1536	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	KIFC2_ENST00000301331.5_Missense_Mutation_p.Q135E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	387					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCTGGCACTCAGCTCCCTGA	0.667																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(1159-1161)Cag>Gag		kinesin family member C2							12.0	15.0	14.0					8																	145694699		2200	4293	6493	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145694699C>G	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1159C>G	8.37:g.145694699C>G	ENSP00000301332:p.Gln387Glu					KIFC2_ENST00000301331.5_Missense_Mutation_p.Q135E	p.Q387E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		11	1536	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		387					E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1159C>G	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.014|0.014	-1.573043|-1.573043	0.00887|0.00887	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332;ENST00000301331|ENST00000528415	T;T|.	0.70045|.	-0.45;-0.39|.	5.13|5.13	4.16|4.16	0.48862|0.48862	.|.	.|.	.|.	.|.	.|.	T|.	0.33585|.	0.0868|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P|.	0.38504|.	0.634|.	B|.	0.35510|.	0.204|.	T|.	0.15954|.	-1.0419|.	9|.	0.02654|.	T|.	1|.	-13.0678|-13.0678	11.5702|11.5702	0.50829|0.50829	0.1904:0.8096:0.0:0.0|0.1904:0.8096:0.0:0.0	.|.	387|.	Q96AC6|.	KIFC2_HUMAN|.	E|X	387;135|207	ENSP00000301332:Q387E;ENSP00000301331:Q135E|.	ENSP00000301331:Q135E|.	Q|S	+|+	1|2	0|0	KIFC2|KIFC2	145665507|145665507	0.002000|0.002000	0.14202|0.14202	0.278000|0.278000	0.24718|0.24718	0.175000|0.175000	0.22909|0.22909	0.837000|0.837000	0.27558|0.27558	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.667	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		8	27	0	0	0	1	0	8	27				
OR8D4	338662	broad.mit.edu	37	11	123777563	123777563	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:123777563C>G	ENST00000321355.2	+	1	455	c.425C>G	c.(424-426)tCt>tGt	p.S142C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGGTCTGTTCTCTGCTGGTG	0.502																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(424-426)tCt>tGt		olfactory receptor, family 8, subfamily D, member 4							189.0	171.0	177.0					11																	123777563		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777563C>G	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.425C>G	11.37:g.123777563C>G	ENSP00000325381:p.Ser142Cys						p.S142C	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	455	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	142					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.425C>G	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264588	0.23136	.	.	ENSG00000181518	ENST00000321355	T	0.37411	1.2	5.81	0.645	0.17782	GPCR, rhodopsin-like superfamily (1);	0.145395	0.32015	N	0.006716	T	0.20495	0.0493	L	0.28776	0.89	0.09310	N	1	B	0.22683	0.073	B	0.27262	0.078	T	0.11251	-1.0595	10	0.38643	T	0.18	.	1.6955	0.02861	0.1359:0.4479:0.1322:0.284	.	142	Q8NGM9	OR8D4_HUMAN	C	142	ENSP00000325381:S142C	ENSP00000325381:S142C	S	+	2	0	OR8D4	123282773	0.000000	0.05858	0.051000	0.19133	0.888000	0.51559	-0.961000	0.03845	0.069000	0.16605	0.655000	0.94253	TCT		0.502	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		21	140	0	0	0	1	0	21	140				
C7orf62	219557	broad.mit.edu	37	7	88423875	88423875	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:88423875G>T	ENST00000297203.2	-	2	567	c.382C>A	c.(382-384)Caa>Aaa	p.Q128K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	128								p.Q128*(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATTTTCATTTGTTGAATAAAA	0.343																																						ENST00000297203.2																			1	Substitution - Nonsense(1)	p.Q128*(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(382-384)Caa>Aaa		chromosome 7 open reading frame 62							50.0	52.0	51.0					7																	88423875		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423875G>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.382C>A	7.37:g.88423875G>T	ENSP00000297203:p.Gln128Lys					ZNF804B_ENST00000333190.4_Intron	p.Q128K	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	567	-			128						Missense_Mutation	SNP	ENST00000297203.2	37	c.382C>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348848	0.01266	.	.	ENSG00000164645	ENST00000297203	T	0.13196	2.61	6.06	-0.432	0.12291	.	1.102130	0.06786	N	0.786227	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	10	0.40728	T	0.16	-14.2566	4.6879	0.12767	0.0:0.3244:0.2938:0.3818	.	128	Q8TBZ9	CG062_HUMAN	K	128	ENSP00000297203:Q128K	ENSP00000297203:Q128K	Q	-	1	0	C7orf62	88261811	0.020000	0.18652	0.003000	0.11579	0.284000	0.27059	0.247000	0.18179	-0.382000	0.07870	-0.841000	0.03054	CAA		0.343	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		9	32	1	0	0.00448238	1	0.00456508	9	32				
KLHL40	131377	broad.mit.edu	37	3	42728005	42728005	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:42728005G>A	ENST00000287777.4	+	1	995	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	299					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TGAGGAGGCCGAACGTATCCT	0.572																																						ENST00000287777.4																			0											c.(895-897)Gaa>Aaa		kelch-like family member 40							176.0	174.0	175.0					3																	42728005		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728005G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.895G>A	3.37:g.42728005G>A	ENSP00000287777:p.Glu299Lys						p.E299K	NM_152393.2	NP_689606.2					1	995	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.895G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881937	0.33255	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.71461	-0.57	4.69	4.69	0.59074	.	0.096864	0.64402	D	0.000001	T	0.69682	0.3138	M	0.64404	1.975	0.51482	D	0.999927	B	0.31351	0.32	B	0.31812	0.136	T	0.70396	-0.4883	10	0.40728	T	0.16	.	17.6243	0.88090	0.0:0.0:1.0:0.0	.	299	Q2TBA0	KBTB5_HUMAN	K	299;44	ENSP00000287777:E299K	ENSP00000287777:E299K	E	+	1	0	KBTBD5	42703009	1.000000	0.71417	0.030000	0.17652	0.019000	0.09904	9.869000	0.99810	2.180000	0.69256	0.655000	0.94253	GAA		0.572	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		46	125	0	0	0	1	0	46	125				
MICALCL	84953	broad.mit.edu	37	11	12313752	12313752	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12313752C>T	ENST00000256186.2	+	2	328	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	13	Ser-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ttctcttcctcttccttcatc	0.478																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(37-39)Ctt>Ttt		MICAL C-terminal like							221.0	229.0	227.0					11																	12313752		1945	4134	6079	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12313752C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.37C>T	11.37:g.12313752C>T	ENSP00000256186:p.Leu13Phe						p.L13F	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	2	328	+			13			Ser-rich.		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.37C>T	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663536	0.29515	.	.	ENSG00000133808	ENST00000533534;ENST00000256186	T	0.08984	3.03	4.1	-6.19	0.02078	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42032	-0.9475	9	0.37606	T	0.19	.	2.4232	0.04453	0.1414:0.1931:0.1282:0.5373	.	13	Q6ZW33	MICLK_HUMAN	F	13	ENSP00000256186:L13F	ENSP00000256186:L13F	L	+	1	0	MICALCL	12270328	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.162000	0.03141	-1.042000	0.03262	-0.218000	0.12543	CTT		0.478	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		6	46	0	0	0	1	0	6	46				
COLEC12	81035	broad.mit.edu	37	18	346752	346752	+	Silent	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:346752G>T	ENST00000400256.3	-	5	1077	c.870C>A	c.(868-870)ctC>ctA	p.L290L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	290					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGAATGAGTTGAGCTGGCTGT	0.507																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(868-870)ctC>ctA		collectin sub-family member 12							187.0	153.0	165.0					18																	346752		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346752G>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.870C>A	18.37:g.346752G>T							p.L290L	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	1077	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	290					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.870C>A	CCDS32782.1																																																																																				0.507	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			4	59	1	0	1.23904e-05	1	1.28562e-05	4	59				
PRUNE2	158471	broad.mit.edu	37	9	79465381	79465381	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:79465381C>T	ENST00000376718.3	-	3	465	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PRUNE2_ENST00000376713.3_Silent_p.A114A|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	114					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTTACCTCGCCAGCACAC	0.438																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(340-342)gcG>gcA		prune homolog 2 (Drosophila)							98.0	91.0	94.0					9																	79465381		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465381C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.342G>A	9.37:g.79465381C>T						PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.A114A	p.A114A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			3	465	-			114					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.342G>A	CCDS47982.1																																																																																				0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	61	0	0	0	1	0	6	61				
HYOU1	10525	broad.mit.edu	37	11	118925334	118925334	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118925334C>T	ENST00000404233.3	-	7	674	c.550G>A	c.(550-552)Gag>Aag	p.E184K	HYOU1_ENST00000543287.1_Missense_Mutation_p.E97K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E184K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E184K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	184					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTCGGCGCTCGGCCTGGTTG	0.572																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(550-552)Gag>Aag		hypoxia up-regulated 1							67.0	61.0	63.0					11																	118925334		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118925334C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.550G>A	11.37:g.118925334C>T	ENSP00000384144:p.Glu184Lys					HYOU1_ENST00000543287.1_Missense_Mutation_p.E97K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E184K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E184K	p.E184K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	7	674	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	184					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.550G>A	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735948	0.96865	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.978;0.994;0.994	T	0.01743	-1.1283	10	0.87932	D	0	-29.5453	18.7741	0.91902	0.0:1.0:0.0:0.0	.	175;228;184;184	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	184;175;184;184;33;184;227;97;184	ENSP00000384144:E184K;ENSP00000437313:E184K;ENSP00000433397:E184K;ENSP00000442727:E97K;ENSP00000431874:E184K	ENSP00000278752:E175K	E	-	1	0	HYOU1	118430544	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.417000	0.80156	2.430000	0.82344	0.557000	0.71058	GAG		0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		10	75	0	0	0	1	0	10	75				
EFS	10278	broad.mit.edu	37	14	23829051	23829051	+	Silent	SNP	C	C	T	rs561088307		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829051C>T	ENST00000216733.3	-	4	1243	c.636G>A	c.(634-636)ccG>ccA	p.P212P	EFS_ENST00000351354.3_Silent_p.P119P|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	212	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TGGGGGGCCCCGGCTCCCGGC	0.617																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(634-636)ccG>ccA		embryonal Fyn-associated substrate							34.0	43.0	40.0					14																	23829051		2168	4205	6373	SO:0001819	synonymous_variant	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829051C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.636G>A	14.37:g.23829051C>T						EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Silent_p.P119P	p.P212P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1243	-	all_cancers(95;7.12e-06)		212			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.636G>A	CCDS9595.1																																																																																				0.617	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			7	140	0	0	0	1	0	7	140				
KIF3B	9371	broad.mit.edu	37	20	30915388	30915388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:30915388C>G	ENST00000375712.3	+	7	2059	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S257*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	631	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGGCCAGTCTCAGCCGTGGGA	0.517																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1891-1893)tCa>tGa		kinesin family member 3B							115.0	104.0	108.0					20																	30915388		2203	4300	6503	SO:0001587	stop_gained	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30915388C>G	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1892C>G	20.37:g.30915388C>G	ENSP00000364864:p.Ser631*					KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S257*	p.S631*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	2059	+			631			Globular.		B2RMP4|B4DSR5|E1P5M5	Nonsense_Mutation	SNP	ENST00000375712.3	37	c.1892C>G	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.771240	0.98480	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	.	.	.	X	631;257	.	ENSP00000364864:S631X	S	+	2	0	KIF3B	30379049	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.213000	0.77950	2.941000	0.99782	0.655000	0.94253	TCA		0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		11	94	0	0	0	1	0	11	94				
MXRA5	25878	broad.mit.edu	37	X	3240601	3240601	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:3240601T>C	ENST00000217939.6	-	5	3279	c.3125A>G	c.(3124-3126)cAc>cGc	p.H1042R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1042						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTCACAAGGTGGATGTTGTC	0.428																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3124-3126)cAc>cGc		matrix-remodelling associated 5							187.0	165.0	172.0					X																	3240601		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240601T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3125A>G	X.37:g.3240601T>C	ENSP00000217939:p.His1042Arg						p.H1042R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3279	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1042					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3125A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.354	-0.942946	0.02322	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60548	0.18	3.29	-3.0	0.05480	.	0.650488	0.12544	N	0.459605	T	0.24353	0.0590	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	10	0.10377	T	0.69	.	9.6499	0.39890	0.0:0.466:0.0:0.534	.	1042	Q9NR99	MXRA5_HUMAN	R	1042	ENSP00000217939:H1042R	ENSP00000217939:H1042R	H	-	2	0	MXRA5	3250601	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.065000	0.14466	-1.052000	0.03222	-0.517000	0.04412	CAC		0.428	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	109	0	0	0	1	0	16	109				
TCHH	7062	broad.mit.edu	37	1	152081020	152081020	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:152081020C>T	ENST00000368804.1	-	2	4672	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1558	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCGCGGAATTTTCT	0.612																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4672-4674)cGc>cAc		trichohyalin							59.0	60.0	60.0					1																	152081020		1888	4101	5989	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081020C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4673G>A	1.37:g.152081020C>T	ENSP00000357794:p.Arg1558His						p.R1558H	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4672	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1558			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4673G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	8.616	0.890198	0.17613	.	.	ENSG00000159450	ENST00000368804	T	0.05925	3.37	3.3	1.34	0.21922	.	.	.	.	.	T	0.05135	0.0137	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.63192	0.912	T	0.29150	-1.0021	9	0.44086	T	0.13	-1.3601	4.0858	0.09947	0.4099:0.4715:0.0:0.1186	.	1558	Q07283	TRHY_HUMAN	H	1558	ENSP00000357794:R1558H	ENSP00000357794:R1558H	R	-	2	0	TCHH	150347644	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	-0.112000	0.10791	0.211000	0.20683	0.460000	0.39030	CGC		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	107	0	0	0	1	0	7	107				
CUL7	9820	broad.mit.edu	37	6	43006377	43006377	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:43006377G>C	ENST00000265348.3	-	24	4579	c.4494C>G	c.(4492-4494)ctC>ctG	p.L1498L	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.L1582L			Q14999	CUL7_HUMAN	cullin 7	1498					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCGCCTGATTGAGCATGTCTG	0.587																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(4744-4746)ctC>ctG		cullin 7							65.0	70.0	68.0					6																	43006377		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006377G>C	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4494C>G	6.37:g.43006377G>C						CUL7_ENST00000265348.3_Silent_p.L1498L	p.L1582L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		24	4832	-			1498					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.4746C>G	CCDS4881.1																																																																																				0.587	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		13	144	0	0	0	1	0	13	144				
CNTROB	116840	broad.mit.edu	37	17	7843416	7843416	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7843416G>A	ENST00000563694.1	+	9	2092	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	CNTROB_ENST00000380255.3_Silent_p.E389E|CNTROB_ENST00000380262.3_Silent_p.E389E|CNTROB_ENST00000565740.1_Silent_p.E389E	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	389	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TTTCATAGGAGAAGAGCCAGA	0.517																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1165-1167)gaG>gaA		centrobin, centrosomal BRCA2 interacting protein							62.0	71.0	68.0					17																	7843416		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7843416G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1167G>A	17.37:g.7843416G>A						CNTROB_ENST00000380255.3_Silent_p.E389E|CNTROB_ENST00000563694.1_Silent_p.E389E|CNTROB_ENST00000565740.1_Silent_p.E389E	p.E389E	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			9	2092	+		Prostate(122;0.173)	389			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1167G>A	CCDS11126.1																																																																																				0.517	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		27	113	0	0	0	1	0	27	113				
MSH5	4439	broad.mit.edu	37	6	31728591	31728591	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:31728591C>A	ENST00000375755.3	+	20	2223	c.1937C>A	c.(1936-1938)tCc>tAc	p.S646Y	MSH5_ENST00000534153.4_Missense_Mutation_p.S663Y|MSH5_ENST00000375750.3_Missense_Mutation_p.S646Y|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.S663Y|MSH5_ENST00000375742.3_Missense_Mutation_p.S663Y|MSH5_ENST00000375740.3_Missense_Mutation_p.S663Y|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.S345Y|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000395853.1_Missense_Mutation_p.S320Y|MSH5_ENST00000375703.3_Missense_Mutation_p.S646Y	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	646					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTGGCCTCTCCACCTTCATG	0.522								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1987-1989)tCc>tAc									77.0	60.0	66.0					6																	31728591		1511	2709	4220	SO:0001583	missense	100532732							g.chr6:31728591C>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1937C>A	6.37:g.31728591C>A	ENSP00000364908:p.Ser646Tyr					MSH5_ENST00000375750.3_Missense_Mutation_p.S646Y|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.S345Y|MSH5_ENST00000375703.3_Missense_Mutation_p.S646Y|MSH5_ENST00000534153.4_Missense_Mutation_p.S663Y|MSH5_ENST00000375740.3_Missense_Mutation_p.S663Y|MSH5_ENST00000375742.3_Missense_Mutation_p.S663Y|MSH5_ENST00000375755.3_Missense_Mutation_p.S646Y|MSH5_ENST00000395853.1_Missense_Mutation_p.S320Y	p.S663Y							20	2044	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1988C>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528204	0.85706	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.73	5.73	0.89815	DNA mismatch repair protein MutS, C-terminal (2);	0.108674	0.64402	D	0.000003	D	0.97838	0.9290	H	0.98487	4.245	0.45979	D	0.998797	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99038	1.0823	9	0.87932	D	0	-13.9245	17.3893	0.87425	0.0:1.0:0.0:0.0	.	331;663;646;646;663	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	Y	646;663;178;646;663;646;663;345;320;32	ENSP00000364908:S646Y;ENSP00000364894:S663Y;ENSP00000364903:S646Y;ENSP00000431693:S663Y;ENSP00000364855:S646Y;ENSP00000364892:S663Y;ENSP00000416784:S345Y;ENSP00000379194:S320Y	ENSP00000364855:S646Y	S	+	2	0	MSH5;MSH5-C6orf26	31836570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	2.708000	0.92522	0.591000	0.81541	TCC		0.522	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			6	33	1	0	0.0293803	1	0.0297032	6	33				
ITGB1BP2	26548	broad.mit.edu	37	X	70524841	70524841	+	Silent	SNP	C	C	G	rs192907604		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:70524841C>G	ENST00000373829.3	+	11	916	c.843C>G	c.(841-843)gtC>gtG	p.V281V	ITGB1BP2_ENST00000538820.1_Silent_p.V263V	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	281	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AGAGCTCTGTCTTCTTGATGC	0.532																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(787-789)gtC>gtG		integrin beta 1 binding protein (melusin) 2							72.0	57.0	62.0					X																	70524841		2203	4300	6503	SO:0001819	synonymous_variant	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524841C>G	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.843C>G	X.37:g.70524841C>G						ITGB1BP2_ENST00000373829.3_Silent_p.V281V	p.V263V			Q9UKP3	ITBP2_HUMAN			10	1129	+	Renal(35;0.156)		281			CS.		Q32N04|Q549J7	Silent	SNP	ENST00000373829.3	37	c.789C>G	CCDS14411.1																																																																																				0.532	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		14	27	0	0	0	1	0	14	27				
PLS3	5358	broad.mit.edu	37	X	114869218	114869218	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:114869218C>G	ENST00000420625.2	+	7	742	c.608C>G	c.(607-609)tCt>tGt	p.S203C	PLS3_ENST00000537301.1_Missense_Mutation_p.S181C|PLS3_ENST00000289290.3_Missense_Mutation_p.S158C|PLS3_ENST00000355899.3_Missense_Mutation_p.S203C|PLS3_ENST00000539310.1_Missense_Mutation_p.S158C	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	203	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCACTGAACTCTGCTTCTGCC	0.443																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(607-609)tCt>tGt		plastin 3							190.0	167.0	175.0					X																	114869218		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114869218C>G	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.608C>G	X.37:g.114869218C>G	ENSP00000398945:p.Ser203Cys					PLS3_ENST00000539310.1_Missense_Mutation_p.S158C|PLS3_ENST00000537301.1_Missense_Mutation_p.S181C|PLS3_ENST00000289290.3_Missense_Mutation_p.S158C|PLS3_ENST00000355899.3_Missense_Mutation_p.S203C	p.S203C	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			7	742	+			203			Actin-binding 1.|CH 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.608C>G	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280701	0.80692	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.08	5.08	0.68730	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.951;0.951	D	0.99609	1.0980	10	0.87932	D	0	-10.3283	16.0763	0.80971	0.0:1.0:0.0:0.0	.	176;181;203	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	C	203;181;158;203;158	ENSP00000348163:S203C;ENSP00000445105:S181C;ENSP00000289290:S158C;ENSP00000398945:S203C;ENSP00000445339:S158C	ENSP00000289290:S158C	S	+	2	0	PLS3	114775474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.094000	0.63399	0.594000	0.82650	TCT		0.443	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			14	138	0	0	0	1	0	14	138				
NMD3	51068	broad.mit.edu	37	3	160942782	160942782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160942782C>T	ENST00000460469.1	+	2	564	c.109C>T	c.(109-111)Cga>Tga	p.R37*	NMD3_ENST00000351193.2_Nonsense_Mutation_p.R37*|NMD3_ENST00000472947.1_Nonsense_Mutation_p.R37*|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	37					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGCCTGTTTGCGAAGTAAAGT	0.383																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(109-111)Cga>Tga		NMD3 ribosome export adaptor							171.0	165.0	167.0					3																	160942782		2203	4300	6503	SO:0001587	stop_gained	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160942782C>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.109C>T	3.37:g.160942782C>T	ENSP00000419004:p.Arg37*					NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Nonsense_Mutation_p.R37*|NMD3_ENST00000472947.1_Nonsense_Mutation_p.R37*	p.R37*			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		2	564	+			37					D3DNM7|Q9Y2Z6	Nonsense_Mutation	SNP	ENST00000460469.1	37	c.109C>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	38	7.124325	0.98081	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	.	.	.	6.07	3.21	0.36854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.7253	14.9438	0.71014	0.3718:0.6282:0.0:0.0	.	.	.	.	X	37	.	ENSP00000307525:R37X	R	+	1	2	NMD3	162425476	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.521000	0.35910	0.877000	0.35895	-0.182000	0.12963	CGA		0.383	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		4	138	0	0	0	1	0	4	138				
DLG3	1741	broad.mit.edu	37	X	69672598	69672598	+	Intron	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:69672598G>C	ENST00000374360.3	+	7	1378				DLG3_ENST00000374355.3_Missense_Mutation_p.D43H|DLG3_ENST00000194900.4_Intron|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000542398.1_5'Flank|RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GCCCGGAGGGGATGCCAGGTA	0.682																																						ENST00000374355.3																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(127-129)Gat>Cat		discs, large homolog 3 (Drosophila)							19.0	21.0	20.0					X																	69672598		1912	4107	6019	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69672598G>C	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1145+722G>C	X.37:g.69672598G>C						DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	p.D43H	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN			1	444	+	Renal(35;0.156)		0					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.127G>C	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791457	0.50102	.	.	ENSG00000082458	ENST00000374355	T	0.50548	0.74	4.07	4.07	0.47477	.	.	.	.	.	T	0.41442	0.1159	.	.	.	0.80722	D	1	P	0.36048	0.534	B	0.41088	0.347	T	0.22800	-1.0206	7	.	.	.	.	10.6452	0.45615	0.0:0.0:1.0:0.0	.	43	Q5JUW6	.	H	43	ENSP00000363475:D43H	.	D	+	1	0	DLG3	69589323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.058000	0.57463	1.875000	0.54330	0.416000	0.27883	GAT		0.682	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		3	39	0	0	0	1	0	3	39				
MADD	8567	broad.mit.edu	37	11	47296258	47296258	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47296258G>A	ENST00000311027.5	+	3	372	c.207G>A	c.(205-207)atG>atA	p.M69I	MADD_ENST00000395336.3_Missense_Mutation_p.M69I|MADD_ENST00000395344.3_Missense_Mutation_p.M69I|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402799.1_Missense_Mutation_p.M69I|MADD_ENST00000406482.1_Missense_Mutation_p.M69I|MADD_ENST00000342922.4_Missense_Mutation_p.M69I|MADD_ENST00000402192.2_Missense_Mutation_p.M69I|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000407859.3_Missense_Mutation_p.M69I|MADD_ENST00000349238.3_Missense_Mutation_p.M69I	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCGGCGCATGAGCCTTCGGG	0.567																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(205-207)atG>atA		MAP-kinase activating death domain							155.0	151.0	152.0					11																	47296258		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296258G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.207G>A	11.37:g.47296258G>A	ENSP00000310933:p.Met69Ile					MADD_ENST00000395336.3_Missense_Mutation_p.M69I|MADD_ENST00000395344.3_Missense_Mutation_p.M69I|MADD_ENST00000311027.5_Missense_Mutation_p.M69I|MADD_ENST00000349238.3_Missense_Mutation_p.M69I|MADD_ENST00000406482.1_Missense_Mutation_p.M69I|MADD_ENST00000407859.3_Missense_Mutation_p.M69I|MADD_ENST00000402799.1_Missense_Mutation_p.M69I|MADD_ENST00000402192.2_Missense_Mutation_p.M69I	p.M69I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	564	+			69			UDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.207G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230650	0.39399	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T	0.05319	3.57;3.46;3.46;3.57;3.57;3.46;3.46;3.57;3.57	6.17	5.26	0.73747	uDENN (3);	0.150792	0.64402	D	0.000007	T	0.05135	0.0137	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.25772	0.102;0.016;0.05;0.012;0.012;0.023;0.012;0.134;0.066;0.029	B;B;B;B;B;B;B;B;B;B	0.25759	0.048;0.063;0.037;0.006;0.006;0.028;0.006;0.045;0.011;0.037	T	0.48340	-0.9044	10	0.24483	T	0.36	-15.0983	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	69;69;69;69;69;69;69;69;69;69	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	I	69	ENSP00000343902:M69I;ENSP00000385585:M69I;ENSP00000384435:M69I;ENSP00000304505:M69I;ENSP00000310933:M69I;ENSP00000384204:M69I;ENSP00000378753:M69I;ENSP00000378745:M69I;ENSP00000384287:M69I	ENSP00000310933:M69I	M	+	3	0	MADD	47252834	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.830000	0.62745	1.630000	0.50440	0.655000	0.94253	ATG		0.567	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			34	278	0	0	0	1	0	34	278				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	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.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	44	0	0	0	1	0	6	44				
PGM1	5236	broad.mit.edu	37	1	64097370	64097370	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:64097370G>A	ENST00000371084.3	+	4	812	c.599G>A	c.(598-600)aGa>aAa	p.R200K	PGM1_ENST00000371083.4_Missense_Mutation_p.R218K|PGM1_ENST00000540265.1_Missense_Mutation_p.R3K	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	200					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAATGCTGAGAAGCATCTTT	0.373																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(652-654)aGa>aAa		phosphoglucomutase 1							177.0	160.0	166.0					1																	64097370		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64097370G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.599G>A	1.37:g.64097370G>A	ENSP00000360125:p.Arg200Lys					PGM1_ENST00000540265.1_Missense_Mutation_p.R3K|PGM1_ENST00000371084.3_Missense_Mutation_p.R200K	p.R218K	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			4	1021	+			200					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.653G>A	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199584	0.38806	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.61742	0.08;0.08;0.08	5.75	5.75	0.90469	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.02286	-0.61	0.38674	D	0.952382	B;B	0.18863	0.031;0.025	B;B	0.19666	0.022;0.026	T	0.36114	-0.9761	10	0.02654	T	1	-44.7773	20.327	0.98704	0.0:0.0:1.0:0.0	.	218;200	P36871-2;P36871	.;PGM1_HUMAN	K	176;200;3;218	ENSP00000360125:R200K;ENSP00000443449:R3K;ENSP00000360124:R218K	ENSP00000360124:R218K	R	+	2	0	PGM1	63869958	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.018000	0.88722	2.885000	0.99019	0.655000	0.94253	AGA		0.373	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		26	103	0	0	0	1	0	26	103				
GRP	2922	broad.mit.edu	37	18	56892771	56892771	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:56892771G>A	ENST00000256857.2	+	2	285	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GRP_ENST00000529320.2_Missense_Mutation_p.E63K|GRP_ENST00000420468.2_Missense_Mutation_p.E63K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	63					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTCTGTTTCTGAGAGAGGGAG	0.448																																						ENST00000256857.2																			0				large_intestine(1)|lung(3)	4						c.(187-189)Gag>Aag		gastrin-releasing peptide							81.0	84.0	83.0					18																	56892771		2203	4300	6503	SO:0001583	missense	2922				neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity	g.chr18:56892771G>A		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.187G>A	18.37:g.56892771G>A	ENSP00000256857:p.Glu63Lys					GRP_ENST00000529320.2_Missense_Mutation_p.E63K|GRP_ENST00000420468.2_Missense_Mutation_p.E63K	p.E63K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN			2	285	+		Colorectal(73;0.0946)	63					P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	ENST00000256857.2	37	c.187G>A	CCDS11971.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964939	0.34659	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.37235	1.21;1.25;1.22	5.34	3.54	0.40534	.	0.497156	0.19990	N	0.101588	T	0.30448	0.0765	L	0.50333	1.59	0.09310	N	1	B;B;B	0.28512	0.06;0.214;0.019	B;B;B	0.24269	0.046;0.052;0.015	T	0.25047	-1.0143	10	0.72032	D	0.01	-12.2337	8.4218	0.32705	0.0839:0.1552:0.7609:0.0	.	63;63;63	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	K	63	ENSP00000256857:E63K;ENSP00000434101:E63K;ENSP00000389696:E63K	ENSP00000256857:E63K	E	+	1	0	GRP	55043751	0.553000	0.26513	0.001000	0.08648	0.023000	0.10783	1.371000	0.34250	0.625000	0.30304	0.655000	0.94253	GAG		0.448	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256131.2	NM_002091		20	71	0	0	0	1	0	20	71				
TTC16	158248	broad.mit.edu	37	9	130493006	130493006	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130493006G>A	ENST00000373289.3	+	14	2024	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	648										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCTCTGACTCGTCACTGTTGA	0.572																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1942-1944)tcG>tcA		tetratricopeptide repeat domain 16							73.0	67.0	69.0					9																	130493006		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130493006G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1944G>A	9.37:g.130493006G>A						TTC16_ENST00000489226.1_3'UTR	p.S648S	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2024	+			648					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1944G>A	CCDS6875.1																																																																																				0.572	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		21	54	0	0	0	1	0	21	54				
LPCAT3	10162	broad.mit.edu	37	12	7084836	7084836	+	IGR	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:7084836G>A	ENST00000261407.4	-	0	2268				EMG1_ENST00000261406.6_Intron|U47924.30_ENST00000606112.1_lincRNA|EMG1_ENST00000546220.1_Intron|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGAGTTGGCTGACAAAACTGT	0.448																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							97.0	98.0	97.0					12																	7084836		1951	4147	6098	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084836G>A	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084836G>A						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	651	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.448	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		32	47	0	0	0	1	0	32	47				
CIZ1	25792	broad.mit.edu	37	9	130941370	130941370	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:130941370C>T	ENST00000393608.1	-	8	1318	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CIZ1_ENST00000538431.1_Silent_p.Q372Q|CIZ1_ENST00000372938.5_Silent_p.Q372Q|CIZ1_ENST00000357558.5_Silent_p.Q372Q|CIZ1_ENST00000277465.4_Silent_p.Q372Q|CIZ1_ENST00000325721.8_Silent_p.Q343Q|CIZ1_ENST00000372948.3_Silent_p.Q372Q|CIZ1_ENST00000541172.1_Silent_p.Q271Q|CIZ1_ENST00000372954.1_Silent_p.Q348Q|CIZ1_ENST00000476727.2_Intron	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	372	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						gcacctgcttctgtggctctg	0.612																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(1114-1116)caG>caA		CDKN1A interacting zinc finger protein 1							40.0	34.0	36.0					9																	130941370		2202	4300	6502	SO:0001819	synonymous_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941370C>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1116G>A	9.37:g.130941370C>T						CIZ1_ENST00000357558.5_Silent_p.Q372Q|CIZ1_ENST00000325721.8_Silent_p.Q343Q|CIZ1_ENST00000277465.4_Silent_p.Q372Q|CIZ1_ENST00000393608.1_Silent_p.Q372Q|CIZ1_ENST00000541172.1_Silent_p.Q271Q|CIZ1_ENST00000372954.1_Silent_p.Q348Q|CIZ1_ENST00000372938.5_Silent_p.Q372Q|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372948.3_Silent_p.Q372Q	p.Q372Q	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			8	1363	-			372			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	c.1116G>A	CCDS6894.1																																																																																				0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		34	34	0	0	0	1	0	34	34				
MAGEC1	9947	broad.mit.edu	37	X	140995785	140995785	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:140995785C>G	ENST00000285879.4	+	4	2881	c.2595C>G	c.(2593-2595)agC>agG	p.S865R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	865										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATTGAGCCCATTCAGTG	0.507										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2593-2595)agC>agG		melanoma antigen family C, 1							126.0	130.0	129.0					X																	140995785		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995785C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2595C>G	X.37:g.140995785C>G	ENSP00000285879:p.Ser865Arg	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S865R	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2881	+	Acute lymphoblastic leukemia(192;6.56e-05)		865					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2595C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	9.293	1.051091	0.19827	.	.	ENSG00000155495	ENST00000285879	T	0.02177	4.41	1.04	1.04	0.20106	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.51872	-0.8650	9	0.52906	T	0.07	.	5.125	0.14880	0.0:1.0:0.0:0.0	.	865	O60732	MAGC1_HUMAN	R	865	ENSP00000285879:S865R	ENSP00000285879:S865R	S	+	3	2	MAGEC1	140823451	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.409000	0.21082	0.810000	0.34279	0.279000	0.19357	AGC		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		19	273	0	0	0	1	0	19	273				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	48	0	0	0	1	0	20	48				
FIBCD1	84929	broad.mit.edu	37	9	133799753	133799753	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:133799753G>A	ENST00000372338.4	-	3	825	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	FIBCD1_ENST00000372337.2_Missense_Mutation_p.H37Y|FIBCD1_ENST00000448616.1_Missense_Mutation_p.H195Y|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H37Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	195						integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCACCAGGTGAGCCATGTGG	0.692																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(583-585)Cac>Tac		fibrinogen C domain containing 1							12.0	16.0	15.0					9																	133799753		2189	4283	6472	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799753G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.583C>T	9.37:g.133799753G>A	ENSP00000361413:p.His195Tyr					FIBCD1_ENST00000448616.1_Missense_Mutation_p.H195Y|FIBCD1_ENST00000372337.2_Missense_Mutation_p.H37Y|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H37Y	p.H195Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	3	825	-	all_hematologic(7;0.0028)		195					A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.583C>T	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895684	0.33442	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018;ENST00000451466	T;T;T;T;T	0.52983	0.64;0.64;0.66;1.16;1.16	5.26	5.26	0.73747	.	1.357430	0.04287	N	0.344853	T	0.37999	0.1024	N	0.14661	0.345	0.28430	N	0.917319	P	0.42908	0.793	B	0.34489	0.184	T	0.55237	-0.8172	10	0.62326	D	0.03	.	17.8488	0.88738	0.0:0.0:1.0:0.0	.	195	Q8N539	FBCD1_HUMAN	Y	195;195;37;37;195	ENSP00000414501:H195Y;ENSP00000361413:H195Y;ENSP00000361412:H37Y;ENSP00000253018:H37Y;ENSP00000393894:H195Y	ENSP00000253018:H37Y	H	-	1	0	FIBCD1	132789574	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	6.501000	0.73691	2.448000	0.82819	0.462000	0.41574	CAC		0.692	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		8	22	0	0	0	1	0	8	22				
FAM217A	222826	broad.mit.edu	37	6	4070112	4070112	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:4070112G>C	ENST00000274673.3	-	7	748	c.345C>G	c.(343-345)atC>atG	p.I115M	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	115																	TAGGATGATTGATTACATTAA	0.333																																						ENST00000274673.3																			0											c.(343-345)atC>atG		family with sequence similarity 217, member A							46.0	45.0	45.0					6																	4070112		2203	4299	6502	SO:0001583	missense	222826							g.chr6:4070112G>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.345C>G	6.37:g.4070112G>C	ENSP00000274673:p.Ile115Met					FAM217A_ENST00000380188.2_5'UTR	p.I115M	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	748	-			115					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.345C>G	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	4.222	0.040108	0.08148	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.16073	2.37	5.21	3.43	0.39272	.	1.794870	0.02484	N	0.088820	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.27932	0.194	B	0.30495	0.116	T	0.29518	-1.0009	10	0.59425	D	0.04	0.2071	7.5325	0.27691	0.1869:0.0:0.8131:0.0	.	115	Q8IXS0	CF146_HUMAN	M	115;243	ENSP00000274673:I115M	ENSP00000274673:I115M	I	-	3	3	C6orf146	4015111	0.005000	0.15991	0.005000	0.12908	0.143000	0.21401	1.098000	0.31000	1.574000	0.49760	0.650000	0.86243	ATC		0.333	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		4	58	0	0	0	1	0	4	58				
SIK2	23235	broad.mit.edu	37	11	111590619	111590619	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111590619G>A	ENST00000304987.3	+	10	1560	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	463				E -> V (in Ref. 5; BAF83922). {ECO:0000305}.	insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGGAGAGGCCGAGGAAGACCC	0.592																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1387-1389)Gag>Aag		salt-inducible kinase 2							90.0	67.0	75.0					11																	111590619		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111590619G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1387G>A	11.37:g.111590619G>A	ENSP00000305976:p.Glu463Lys					SIK2_ENST00000533868.1_3'UTR	p.E463K	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			10	1560	+			463					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1387G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611166	0.96637	.	.	ENSG00000170145	ENST00000304987	T	0.76186	-1.0	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.71581	2.175	0.80722	D	1	B	0.31125	0.309	B	0.20184	0.028	T	0.70033	-0.4983	10	0.34782	T	0.22	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	463	Q9H0K1	SIK2_HUMAN	K	463	ENSP00000305976:E463K	ENSP00000305976:E463K	E	+	1	0	SIK2	111095829	1.000000	0.71417	0.973000	0.42090	0.854000	0.48673	8.778000	0.91785	2.941000	0.99782	0.655000	0.94253	GAG		0.592	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		6	52	0	0	0	1	0	6	52				
TSGA10	80705	broad.mit.edu	37	2	99651803	99651803	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99651803C>G	ENST00000393483.3	-	17	2348	c.1504G>C	c.(1504-1506)Gtg>Ctg	p.V502L	TSGA10_ENST00000410001.1_Missense_Mutation_p.V502L|TSGA10_ENST00000539964.1_Missense_Mutation_p.V502L|TSGA10_ENST00000355053.4_Missense_Mutation_p.V502L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	502					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGAGCGGACACTTTTTCAAAC	0.383																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1504-1506)Gtg>Ctg		testis specific, 10							67.0	68.0	68.0					2																	99651803		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99651803C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1504G>C	2.37:g.99651803C>G	ENSP00000377123:p.Val502Leu					TSGA10_ENST00000410001.1_Missense_Mutation_p.V502L|TSGA10_ENST00000355053.4_Missense_Mutation_p.V502L|TSGA10_ENST00000539964.1_Missense_Mutation_p.V502L	p.V502L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			17	2348	-			502					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1504G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133318	0.77662	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000393482	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.13	5.13	0.70059	.	0.160739	0.42821	D	0.000659	T	0.19366	0.0465	N	0.25647	0.755	0.80722	D	1	D	0.59767	0.986	P	0.54759	0.76	T	0.01042	-1.1471	10	0.30078	T	0.28	-15.2169	17.6844	0.88253	0.0:1.0:0.0:0.0	.	502	Q9BZW7	TSG10_HUMAN	L	502	ENSP00000377123:V502L;ENSP00000386956:V502L;ENSP00000347161:V502L;ENSP00000444419:V502L;ENSP00000377122:V502L	ENSP00000347161:V502L	V	-	1	0	TSGA10	99018235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.175000	0.58263	2.827000	0.97445	0.655000	0.94253	GTG		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		7	52	0	0	0	1	0	7	52				
PIP5K1A	8394	broad.mit.edu	37	1	151196743	151196743	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:151196743C>G	ENST00000368888.4	+	2	530	c.108C>G	c.(106-108)ccC>ccG	p.P36P	PIP5K1A_ENST00000441902.2_Silent_p.P36P|PIP5K1A_ENST00000409426.1_Silent_p.P36P|PIP5K1A_ENST00000368890.4_Silent_p.P35P	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	36					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			TCAAGAGACCCATGGCATCTG	0.378																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(106-108)ccC>ccG		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							226.0	219.0	221.0					1																	151196743		2203	4300	6503	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196743C>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.108C>G	1.37:g.151196743C>G						PIP5K1A_ENST00000441902.2_Silent_p.P36P|PIP5K1A_ENST00000368890.4_Silent_p.P35P|PIP5K1A_ENST00000368888.4_Silent_p.P36P	p.P36P			Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	553	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		36					A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.108C>G	CCDS44219.1																																																																																				0.378	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		8	144	0	0	0	1	0	8	144				
ESF1	51575	broad.mit.edu	37	20	13753256	13753256	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:13753256A>T	ENST00000202816.1	-	5	1262	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATTCTGAAGGATATATCTAAA	0.363																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1153-1155)taT>taA		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							120.0	112.0	115.0					20																	13753256		2203	4299	6502	SO:0001587	stop_gained	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13753256A>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1155T>A	20.37:g.13753256A>T	ENSP00000202816:p.Tyr385*						p.Y385*	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			5	1262	-			385					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	ENST00000202816.1	37	c.1155T>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	A	38	7.241917	0.98157	.	.	ENSG00000089048	ENST00000202816	.	.	.	5.53	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.3071	8.6542	0.34053	0.8529:0.0:0.1471:0.0	.	.	.	.	X	385	.	ENSP00000202816:Y385X	Y	-	3	2	ESF1	13701256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.116000	0.57871	1.042000	0.40150	0.528000	0.53228	TAT		0.363	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		16	50	0	0	0	1	0	16	50				
TP53	7157	broad.mit.edu	37	17	7573010	7573010	+	Splice_Site	SNP	T	T	A	rs587781664		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7573010T>A	ENST00000269305.4	-	11	1290		c.e11-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(3)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGGTGGCTGTAGGAGACA	0.507		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e12-2	Other conserved DNA damage response genes	tumor protein p53							177.0	157.0	164.0					17																	7573010		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573010T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1101-2A>T	17.37:g.7573010T>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	12	1366	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642081	0.47153	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5714	0.50836	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7513735	1.000000	0.71417	0.990000	0.47175	0.522000	0.34438	3.432000	0.52824	2.234000	0.73211	0.459000	0.35465	.		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	54	59	0	0	0	1	0	54	59				
ERBB2IP	55914	broad.mit.edu	37	5	65349483	65349483	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:65349483G>A	ENST00000284037.5	+	21	2726	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	ERBB2IP_ENST00000508515.1_Silent_p.E779E|ERBB2IP_ENST00000380943.2_Silent_p.E779E|ERBB2IP_ENST00000380936.1_Silent_p.E779E|ERBB2IP_ENST00000380939.2_Silent_p.E779E|ERBB2IP_ENST00000506030.1_Silent_p.E779E|ERBB2IP_ENST00000380938.2_Silent_p.E779E|ERBB2IP_ENST00000380935.1_Silent_p.E779E|ERBB2IP_ENST00000511297.1_Silent_p.E775E|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	779					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAACCAGAGATCATGGAAA	0.328																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2335-2337)gaG>gaA		erbb2 interacting protein							48.0	50.0	49.0					5																	65349483		2203	4298	6501	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349483G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2337G>A	5.37:g.65349483G>A						ERBB2IP_ENST00000506030.1_Silent_p.E779E|ERBB2IP_ENST00000508515.1_Silent_p.E779E|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.E779E|ERBB2IP_ENST00000380938.2_Silent_p.E779E|ERBB2IP_ENST00000380939.2_Silent_p.E779E|ERBB2IP_ENST00000380935.1_Silent_p.E779E|ERBB2IP_ENST00000380943.2_Silent_p.E779E|ERBB2IP_ENST00000511297.1_Silent_p.E775E	p.E779E	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	2726	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	779					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.2337G>A	CCDS58953.1																																																																																				0.328	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		8	31	0	0	0	1	0	8	31				
RASGRF1	5923	broad.mit.edu	37	15	79291063	79291063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:79291063G>A	ENST00000419573.3	-	19	3173	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q183*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q951*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	967					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCACCCACCTGAGAGTGCTTG	0.622																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2899-2901)Cag>Tag		Ras protein-specific guanine nucleotide-releasing factor 1							80.0	76.0	77.0					15																	79291063		2196	4293	6489	SO:0001587	stop_gained	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291063G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2899C>T	15.37:g.79291063G>A	ENSP00000405963:p.Gln967*					RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.Q183*|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q951*	p.Q967*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			19	3173	-			969					F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	37	c.2899C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	45	11.464739	0.99565	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	4.74	4.74	0.60224	.	0.072153	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.2499	0.73536	0.0:0.0:1.0:0.0	.	.	.	.	X	967;951;183	.	ENSP00000378224:Q951X	Q	-	1	0	RASGRF1	77078118	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.154000	0.94694	2.437000	0.82529	0.591000	0.81541	CAG		0.622	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		4	73	0	0	0	1	0	4	73				
AKAP4	8852	broad.mit.edu	37	X	49958758	49958758	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:49958758C>G	ENST00000376056.2	-	5	729	c.579G>C	c.(577-579)caG>caC	p.Q193H	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q193H|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q202H|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4									p.Q202H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGACTGCTCTCTGAGTGCTAG	0.443																																						ENST00000376056.2																			1	Substitution - Missense(1)	p.Q202H(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(577-579)caG>caC		A kinase (PRKA) anchor protein 4							248.0	219.0	229.0					X																	49958758		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958758C>G	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.579G>C	X.37:g.49958758C>G	ENSP00000365224:p.Gln193His					AKAP4_ENST00000358526.2_Missense_Mutation_p.Q202H|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q193H|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR	p.Q193H			Q5JQC9	AKAP4_HUMAN			5	729	-	Ovarian(276;0.236)		202						Missense_Mutation	SNP	ENST00000376056.2	37	c.579G>C	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934420	0.34096	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064;ENST00000437370	T;T;T;T	0.34275	2.6;2.6;2.6;1.37	4.7	4.7	0.59300	.	0.000000	0.43919	D	0.000510	T	0.52948	0.1766	L	0.58669	1.825	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.51585	-0.8687	9	.	.	.	-9.9205	12.1858	0.54239	0.0:1.0:0.0:0.0	.	202	Q5JQC9	AKAP4_HUMAN	H	193;202;193;193	ENSP00000365224:Q193H;ENSP00000351327:Q202H;ENSP00000365232:Q193H;ENSP00000412279:Q193H	.	Q	-	3	2	AKAP4	49845498	0.960000	0.32886	0.916000	0.36221	0.378000	0.30076	0.381000	0.20619	1.920000	0.55613	0.292000	0.19580	CAG		0.443	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		25	181	0	0	0	1	0	25	181				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	C	rs28392876	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672													.|||	426	0.0850639	0.0673	0.0591	5008	,	,		60824	0.0952		0.0815	False		,,,				2504	0.1207					ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>C	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.16946438G>C														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	39	0	0	0	1	0	6	39				
KCNH7	90134	broad.mit.edu	37	2	163302533	163302533	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:163302533C>T	ENST00000332142.5	-	7	1648	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D510N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	517					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTTACCTCATCAGAACCTGAT	0.363																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1549-1551)Gat>Aat		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						72.0	65.0	67.0					2																	163302533		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302533C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1549G>A	2.37:g.163302533C>T	ENSP00000331727:p.Asp517Asn					KCNH7_ENST00000328032.4_Missense_Mutation_p.D510N	p.D517N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			7	1648	-			517					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1549G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269918	0.80469	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98280	-4.84;-4.84	5.7	5.7	0.88788	Ion transport (1);	0.043206	0.85682	D	0.000000	D	0.98166	0.9394	L	0.39467	1.215	0.80722	D	1	D;B	0.59767	0.986;0.07	D;B	0.63283	0.913;0.102	D	0.98888	1.0772	10	0.52906	T	0.07	.	19.8361	0.96658	0.0:1.0:0.0:0.0	.	510;517	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	517;510	ENSP00000331727:D517N;ENSP00000333781:D510N	ENSP00000333781:D510N	D	-	1	0	KCNH7	163010779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.703000	0.92315	0.650000	0.86243	GAT		0.363	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		6	42	0	0	0	1	0	6	42				
KMT2C	58508	broad.mit.edu	37	7	151849998	151849998	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:151849998G>A	ENST00000262189.6	-	49	12536	c.12318C>T	c.(12316-12318)caC>caT	p.H4106H	KMT2C_ENST00000355193.2_Silent_p.H4163H|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4106					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGATTCGGACGTGAAGAAGGT	0.473																																						ENST00000355193.2																			0											c.(12487-12489)caC>caT		lysine (K)-specific methyltransferase 2C							113.0	111.0	112.0					7																	151849998		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151849998G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12318C>T	7.37:g.151849998G>A						KMT2C_ENST00000262189.6_Silent_p.H4106H|KMT2C_ENST00000485241.1_5'UTR	p.H4163H							50	12707	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12489C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.568	0.879471	0.17467	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.84	3.07	0.35406	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48422	-0.9037	4	.	.	.	.	5.9207	0.19080	0.312:0.0:0.5658:0.1222	.	.	.	.	C	1667	.	.	R	-	1	0	MLL3	151480931	0.016000	0.18221	1.000000	0.80357	0.986000	0.74619	-0.777000	0.04669	0.831000	0.34780	-0.136000	0.14681	CGT		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	141	0	0	0	1	0	4	141				
CACNA1C	775	broad.mit.edu	37	12	2602398	2602398	+	Missense_Mutation	SNP	C	C	T	rs377737331		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:2602398C>T	ENST00000347598.4	+	7	959	c.959C>T	c.(958-960)aCg>aTg	p.T320M	CACNA1C_ENST00000399601.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T320M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T320M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T320M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGCTGGAAACGGGCCACGGG	0.602																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(958-960)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4289		0,1,2144	74.0	76.0	75.0		959,959,959,959,959,959,959,959,959,959,959,959,959,959,959,959,959,950,959,959,959,959,959	4.2	0.6	12		75	0,8524		0,0,4262	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,1,6406	TT,TC,CC		0.0,0.0233,0.0078	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	320/2139,320/2187,320/2180,320/2174,320/2167,320/2159,320/2158,320/2158,320/2158,320/2156,320/2147,320/2147,320/2145,320/2139,320/2139,320/2139,320/2139,317/2136,320/2128,320/2139,320/2174,320/2199,320/2222	2602398	1,12813	2145	4262	6407	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602398C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.959C>T	12.37:g.2602398C>T	ENSP00000266376:p.Thr320Met					CACNA1C_ENST00000399649.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T320M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T320M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T320M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T320M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T320M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T320M	p.T320M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1224	+			320					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.959C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377107	0.24857	2.33E-4	0.0	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96554	-4.0;-3.99;-4.05;-3.98;-3.98;-3.99;-4.01;-3.9;-3.94;-3.99;-3.91;-3.91;-3.99;-4.04;-3.91;-3.84;-4.05;-4.0;-3.99;-4.03;-3.93;-4.02;-4.05	5.06	4.15	0.48705	Ion transport (1);	0.280662	0.36134	N	0.002774	D	0.96390	0.8822	M	0.66439	2.03	0.09310	N	1	D;P;P;P;P;P;P;B;P;P;P;D;P;P;P;D;P;P;P;P;P;P;P;P	0.58620	0.973;0.872;0.93;0.746;0.746;0.872;0.914;0.199;0.864;0.914;0.872;0.963;0.853;0.895;0.786;0.983;0.862;0.914;0.827;0.799;0.914;0.746;0.872;0.799	P;B;P;P;B;B;B;P;B;P;B;P;B;P;P;P;P;P;B;B;P;B;B;B	0.55965	0.711;0.36;0.788;0.522;0.42;0.36;0.42;0.489;0.397;0.548;0.36;0.615;0.42;0.595;0.654;0.674;0.498;0.548;0.371;0.188;0.548;0.42;0.36;0.188	D	0.91654	0.5337	10	0.87932	D	0	.	8.5956	0.33714	0.0:0.6289:0.2938:0.0773	.	320;317;320;320;320;320;320;320;320;320;320;291;320;320;320;320;320;320;320;320;320;320;320;320	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;320;161	ENSP00000336982:T320M;ENSP00000382563:T320M;ENSP00000437936:T320M;ENSP00000382552:T320M;ENSP00000382547:T320M;ENSP00000382506:T320M;ENSP00000382530:T320M;ENSP00000382546:T320M;ENSP00000382500:T320M;ENSP00000382549:T320M;ENSP00000266376:T320M;ENSP00000382515:T320M;ENSP00000382510:T320M;ENSP00000341092:T320M;ENSP00000382537:T320M;ENSP00000329877:T320M;ENSP00000382557:T320M;ENSP00000385724:T320M;ENSP00000382512:T320M;ENSP00000382542:T320M;ENSP00000382526:T320M;ENSP00000385896:T320M;ENSP00000382504:T320M	ENSP00000323129:T161M	T	+	2	0	CACNA1C	2472659	0.977000	0.34250	0.581000	0.28614	0.255000	0.26057	2.684000	0.46951	1.322000	0.45245	0.455000	0.32223	ACG		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		28	75	0	0	0	1	0	28	75				
SLC20A1	6574	broad.mit.edu	37	2	113404462	113404462	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:113404462G>A	ENST00000272542.3	+	2	596	c.57G>A	c.(55-57)gtG>gtA	p.V19V	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	19					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTCCTTTGGTGGACTACCTAT	0.483																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(55-57)gtG>gtA		solute carrier family 20 (phosphate transporter), member 1							102.0	99.0	100.0					2																	113404462		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404462G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.57G>A	2.37:g.113404462G>A							p.V19V	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			2	596	+			19					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.57G>A	CCDS2099.1																																																																																				0.483	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		12	51	0	0	0	1	0	12	51				
COL18A1	80781	broad.mit.edu	37	21	46888624	46888624	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:46888624C>G	ENST00000359759.4	+	2	1841	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	COL18A1_ENST00000355480.5_Nonsense_Mutation_p.S372*|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.S192*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	607	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCTCGGTCCTCACGGGGCCTG	0.657																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1819-1821)tCa>tGa		collagen, type XVIII, alpha 1							29.0	33.0	32.0					21																	46888624		1980	4151	6131	SO:0001587	stop_gained	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888624C>G		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1820C>G	21.37:g.46888624C>G	ENSP00000352798:p.Ser607*					COL18A1_ENST00000400337.2_Nonsense_Mutation_p.S192*|COL18A1_ENST00000355480.5_Nonsense_Mutation_p.S372*	p.S607*			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1841	+			607			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Nonsense_Mutation	SNP	ENST00000359759.4	37	c.1820C>G		.	.	.	.	.	.	.	.	.	.	C	24.1	4.498268	0.85069	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	.	.	.	4.42	1.58	0.23477	.	0.274165	0.35646	N	0.003064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.5087	0.33204	0.0:0.737:0.0:0.263	.	.	.	.	X	192;192;372;607;607	.	ENSP00000347665:S372X	S	+	2	0	COL18A1	45713052	0.004000	0.15560	0.000000	0.03702	0.049000	0.14656	1.698000	0.37794	0.105000	0.17753	0.561000	0.74099	TCA		0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			12	25	0	0	0	1	0	12	25				
ACTN1	87	broad.mit.edu	37	14	69350896	69350896	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:69350896C>G	ENST00000193403.6	-	14	2007	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	ACTN1_ENST00000438964.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E542Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.E477Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	542	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGATCTCCTCAATGGTGTGC	0.627																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(1624-1626)Gag>Cag		actinin, alpha 1							63.0	53.0	57.0					14																	69350896		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69350896C>G	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1624G>C	14.37:g.69350896C>G	ENSP00000193403:p.Glu542Gln					ACTN1_ENST00000438964.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E542Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.E542Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.E477Q	p.E542Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	14	2007	-			542			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1624G>C	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.47|17.47	3.398082|3.398082	0.62177|0.62177	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964|ENST00000553290	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.054322|.	0.64402|.	N|.	0.000001|.	D|.	0.84206|.	0.5421|.	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	P;P;B;B;B|.	0.38167|.	0.538;0.621;0.026;0.009;0.042|.	P;P;B;B;B|.	0.48815|.	0.591;0.59;0.14;0.067;0.092|.	D|.	0.86808|.	0.1996|.	10|.	0.39692|.	T|.	0.17|.	.|.	18.4485|18.4485	0.90695|0.90695	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;542;542;542;189|.	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;.;ACTN1_HUMAN;.|.	Q|S	542;542;542;477;542;132|42	ENSP00000193403:E542Q;ENSP00000377941:E542Q;ENSP00000414272:E542Q;ENSP00000366035:E477Q;ENSP00000439828:E542Q;ENSP00000444422:E132Q|.	ENSP00000193403:E542Q|.	E|X	-|-	1|2	0|2	ACTN1|ACTN1	68420649|68420649	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	7.651000|7.651000	0.83577|0.83577	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.627	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		14	45	0	0	0	1	0	14	45				
NUP85	79902	broad.mit.edu	37	17	73221840	73221840	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73221840G>A	ENST00000245544.4	+	10	974	c.903G>A	c.(901-903)ctG>ctA	p.L301L	NUP85_ENST00000579324.1_Silent_p.L189L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000447371.2_Silent_p.L133L|NUP85_ENST00000579298.1_Silent_p.L256L|NUP85_ENST00000541827.1_Silent_p.L255L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	301					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGGAACTTCTGAGTAATTGGT	0.493																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(397-399)ctG>ctA		nucleoporin 85kDa							104.0	98.0	100.0					17																	73221840		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73221840G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.903G>A	17.37:g.73221840G>A						NUP85_ENST00000245544.4_Silent_p.L301L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Silent_p.L255L|NUP85_ENST00000579324.1_Silent_p.L189L|NUP85_ENST00000579298.1_Silent_p.L256L	p.L133L			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		9	823	+	all_lung(278;0.14)|Lung NSC(278;0.168)		301					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.399G>A	CCDS32730.1																																																																																				0.493	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		15	97	0	0	0	1	0	15	97				
UBL7	84993	broad.mit.edu	37	15	74748953	74748953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:74748953G>A	ENST00000567435.1	-	3	707	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q82*|UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q82*			Q96S82	UBL7_HUMAN	ubiquitin-like 7	82	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACCCAGGTTGAATGCCATAG	0.473																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(244-246)Caa>Taa		ubiquitin-like 7 (bone marrow stromal cell-derived)							173.0	148.0	156.0					15																	74748953		2197	4296	6493	SO:0001587	stop_gained	84993						protein binding	g.chr15:74748953G>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.244C>T	15.37:g.74748953G>A	ENSP00000457703:p.Gln82*					UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q82*|UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q82*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q82*	p.Q82*			Q96S82	UBL7_HUMAN			3	707	-			82			Ubiquitin-like.		D3DW57|Q96I03	Nonsense_Mutation	SNP	ENST00000567435.1	37	c.244C>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	G	37	6.284454	0.97440	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	.	.	.	5.31	5.31	0.75309	.	0.107038	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5592	18.5677	0.91122	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000354883:Q82X	Q	-	1	0	UBL7	72536006	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.470000	0.97683	2.484000	0.83849	0.491000	0.48974	CAA		0.473	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		29	75	0	0	0	1	0	29	75				
UTP14C	9724	broad.mit.edu	37	13	52603415	52603415	+	Missense_Mutation	SNP	C	C	A	rs201936279	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr13:52603415C>A	ENST00000521776.2	+	2	1208	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	159					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTGGTTTTTCCCCTGGGGAA	0.522																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(475-477)Ccc>Acc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							53.0	55.0	54.0					13																	52603415		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603415C>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.475C>A	13.37:g.52603415C>A	ENSP00000428619:p.Pro159Thr					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.P159T	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1208	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	159					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.475C>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906570	0.52333	.	.	ENSG00000253797	ENST00000521776	T	0.26957	1.7	2.46	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.91510	3.215	0.54753	D	0.999988	D	0.89917	1.0	D	0.78314	0.991	T	0.64588	-0.6372	10	0.87932	D	0	-5.5725	10.6063	0.45396	0.0:1.0:0.0:0.0	.	159	Q5TAP6	UT14C_HUMAN	T	159	ENSP00000428619:P159T	ENSP00000428619:P159T	P	+	1	0	UTP14C	51501416	1.000000	0.71417	0.919000	0.36401	0.949000	0.60115	3.021000	0.49651	1.396000	0.46663	0.448000	0.29417	CCC		0.522	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		18	73	1	0	1.02788e-11	1	1.11253e-11	18	73				
MARCH10	162333	broad.mit.edu	37	17	60814545	60814545	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:60814545C>G	ENST00000311269.5	-	6	958	c.684G>C	c.(682-684)caG>caC	p.Q228H	MARCH10_ENST00000544856.2_Missense_Mutation_p.Q227H|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q228H|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q266H	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	228					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCAGCTCACTCTGGGAAGGAG	0.532																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(679-681)caG>caC		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							157.0	154.0	155.0					17																	60814545		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814545C>G	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.684G>C	17.37:g.60814545C>G	ENSP00000311496:p.Gln228His					MARCH10_ENST00000456609.2_Missense_Mutation_p.Q228H|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q266H|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.Q228H	p.Q227H			Q8NA82	MARHA_HUMAN			7	1059	-			228					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.681G>C	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969965	0.18659	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.39406	1.08;1.08;1.08	4.98	2.6	0.31112	.	0.412562	0.20558	N	0.089971	T	0.57695	0.2071	M	0.73598	2.24	0.09310	N	1	D;D;D	0.71674	0.996;0.998;0.991	P;D;P	0.67382	0.894;0.951;0.818	T	0.45041	-0.9288	10	0.72032	D	0.01	-5.9823	7.7488	0.28886	0.0:0.7723:0.0:0.2277	.	227;227;228	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	H	228;228;227	ENSP00000416177:Q228H;ENSP00000311496:Q228H;ENSP00000443746:Q227H	ENSP00000311496:Q228H	Q	-	3	2	MARCH10	58168277	0.364000	0.24997	0.391000	0.26233	0.057000	0.15508	0.276000	0.18716	1.097000	0.41459	0.561000	0.74099	CAG		0.532	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		25	192	0	0	0	1	0	25	192				
ZBTB38	253461	broad.mit.edu	37	3	141162830	141162830	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:141162830C>T	ENST00000514251.1	+	4	1879	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.H534Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.H535Y					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTCAAAAATCATCAGAAGTC	0.378																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(1600-1602)Cat>Tat		zinc finger and BTB domain containing 38							69.0	65.0	66.0					3																	141162830		1860	4096	5956	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162830C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1600C>T	3.37:g.141162830C>T	ENSP00000426387:p.His534Tyr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.H534Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.H535Y	p.H534Y			Q8NAP3	ZBT38_HUMAN			4	1879	+			534						Missense_Mutation	SNP	ENST00000514251.1	37	c.1600C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237184	0.79800	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	M	0.68593	2.085	0.53005	D	0.99996	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.97012	0.9737	9	.	.	.	-24.6506	19.1701	0.93574	0.0:1.0:0.0:0.0	.	535;534	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	534;534;534;535	ENSP00000424254:H534Y;ENSP00000426387:H534Y;ENSP00000406955:H534Y;ENSP00000372635:H535Y	.	H	+	1	0	ZBTB38	142645520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.543000	0.85770	0.650000	0.86243	CAT		0.378	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			9	71	0	0	0	1	0	9	71				
PDE11A	50940	broad.mit.edu	37	2	178936621	178936621	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:178936621G>A	ENST00000286063.6	-	1	861	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	182					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TACCGAGGCAGATTCACTCTC	0.522									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(544-546)Ctg>Ttg		phosphodiesterase 11A							87.0	83.0	84.0					2																	178936621		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936621G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.544C>T	2.37:g.178936621G>A						PDE11A_ENST00000358450.4_Intron	p.L182L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	861	-			182					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.544C>T	CCDS33334.1																																																																																				0.522	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	113	0	0	0	1	0	5	113				
B3GNT1	11041	broad.mit.edu	37	11	66114296	66114296	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:66114296G>A	ENST00000311181.4	-	1	867	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	241					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGCATTTCCCGCAGGCCTCTC	0.612																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(721-723)Cgg>Tgg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							71.0	75.0	74.0					11																	66114296		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114296G>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.721C>T	11.37:g.66114296G>A	ENSP00000309096:p.Arg241Trp						p.R241W	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	867	-			241					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.721C>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166235	0.57476	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.22539	1.95	5.46	1.15	0.20763	.	0.164310	0.39407	N	0.001375	T	0.27663	0.0680	L	0.43923	1.385	0.33462	D	0.585088	D	0.64830	0.994	P	0.54174	0.744	T	0.39800	-0.9596	10	0.66056	D	0.02	-32.1726	12.3331	0.55051	0.0:0.0:0.3902:0.6098	.	241	O43505	B3GN1_HUMAN	W	241;12	ENSP00000309096:R241W	ENSP00000309096:R241W	R	-	1	2	B3GNT1	65870872	0.999000	0.42202	0.929000	0.37066	0.997000	0.91878	1.928000	0.40104	-0.041000	0.13558	0.462000	0.41574	CGG		0.612	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		5	143	0	0	0	1	0	5	143				
ZNF488	118738	broad.mit.edu	37	10	48371065	48371065	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371065C>T	ENST00000395702.2	+	2	760	c.533C>T	c.(532-534)tCa>tTa	p.S178L	ZNF488_ENST00000586537.1_Missense_Mutation_p.S71L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	178					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAGCTAACCTCAGTCTTCCCT	0.562																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(532-534)tCa>tTa		zinc finger protein 488							79.0	78.0	79.0					10																	48371065		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371065C>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.533C>T	10.37:g.48371065C>T	ENSP00000379054:p.Ser178Leu					ZNF488_ENST00000586537.1_Missense_Mutation_p.S71L|ZNF488_ENST00000494156.1_3'UTR	p.S178L			Q96MN9	ZN488_HUMAN			2	760	+			178					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.533C>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911992	0.33721	.	.	ENSG00000165388	ENST00000395702	T	0.24151	1.87	5.43	3.5	0.40072	.	1.024520	0.07769	U	0.951428	T	0.23688	0.0573	L	0.59436	1.845	0.09310	N	1	P	0.36282	0.546	B	0.32864	0.154	T	0.23868	-1.0176	10	0.36615	T	0.2	.	5.1917	0.15212	0.1528:0.6235:0.147:0.0767	.	178	Q96MN9	ZN488_HUMAN	L	178	ENSP00000379054:S178L	ENSP00000379054:S178L	S	+	2	0	ZNF488	47991071	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	1.247000	0.32815	0.606000	0.29965	0.561000	0.74099	TCA		0.562	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		20	82	0	0	0	1	0	20	82				
DNAH3	55567	broad.mit.edu	37	16	21133286	21133286	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:21133286T>G	ENST00000261383.3	-	10	1563	c.1564A>C	c.(1564-1566)Aac>Cac	p.N522H	DNAH3_ENST00000415178.1_Missense_Mutation_p.N522H|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	522	Stem. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATTAGAGTTCTTAATAATT	0.348																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1564-1566)Aac>Cac		dynein, axonemal, heavy chain 3							75.0	73.0	74.0					16																	21133286		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21133286T>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1564A>C	16.37:g.21133286T>G	ENSP00000261383:p.Asn522His					CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.N522H	p.N522H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	10	1563	-			522			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1564A>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182404	0.57800	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22336	1.96;2.12	5.21	5.21	0.72293	.	0.368140	0.28279	N	0.015932	T	0.25195	0.0612	L	0.43152	1.355	0.32236	N	0.573283	B;D	0.53885	0.343;0.963	B;P	0.47102	0.179;0.537	T	0.26916	-1.0089	10	0.48119	T	0.1	.	14.0831	0.64937	0.0:0.0:0.0:1.0	.	522;493	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	H	522;522;493	ENSP00000261383:N522H;ENSP00000394245:N522H	ENSP00000261383:N522H	N	-	1	0	DNAH3	21040787	0.874000	0.30092	0.990000	0.47175	0.997000	0.91878	4.212000	0.58514	1.968000	0.57251	0.533000	0.62120	AAC		0.348	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	50	0	0	0	1	0	13	50				
EPHA2	1969	broad.mit.edu	37	1	16462170	16462170	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:16462170C>T	ENST00000358432.5	-	6	1562	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	470	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAAGTGACCTCGTACTTCCAC	0.647																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1408-1410)Gag>Aag		EPH receptor A2	Dasatinib(DB01254)						63.0	61.0	62.0					1																	16462170		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16462170C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1408G>A	1.37:g.16462170C>T	ENSP00000351209:p.Glu470Lys						p.E470K	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	6	1562	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	470			Fibronectin type-III 2.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1408G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.917312	0.92249	.	.	ENSG00000142627	ENST00000358432	T	0.58358	0.34	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000060	T	0.67730	0.2924	L	0.51853	1.615	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	P;D	0.79108	0.856;0.992	T	0.70324	-0.4903	10	0.87932	D	0	.	16.3569	0.83237	0.0:1.0:0.0:0.0	.	470;470	B5A968;P29317	.;EPHA2_HUMAN	K	470	ENSP00000351209:E470K	ENSP00000351209:E470K	E	-	1	0	EPHA2	16334757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.850000	0.55918	2.466000	0.83321	0.556000	0.70494	GAG		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	71	0	0	0	1	0	11	71				
EPDR1	54749	broad.mit.edu	37	7	37988620	37988620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:37988620G>T	ENST00000199448.4	+	2	827	c.448G>T	c.(448-450)Gag>Tag	p.E150*	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Nonsense_Mutation_p.E89*|EPDR1_ENST00000476620.1_Nonsense_Mutation_p.E48*|EPDR1_ENST00000559325.1_Nonsense_Mutation_p.E270*	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	150					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CACCGTCCAGGAGTGGTCGGA	0.493																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(448-450)Gag>Tag		ependymin related 1							74.0	75.0	75.0					7																	37988620		2203	4300	6503	SO:0001587	stop_gained	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988620G>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.448G>T	7.37:g.37988620G>T	ENSP00000199448:p.Glu150*					EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Nonsense_Mutation_p.E89*|EPDR1_ENST00000559325.1_Nonsense_Mutation_p.E270*|EPDR1_ENST00000476620.1_Nonsense_Mutation_p.E48*	p.E150*	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	827	+			150					A8K4C0|C9JYS3|Q06BL0|Q99M77	Nonsense_Mutation	SNP	ENST00000199448.4	37	c.448G>T	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930849	0.92389	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	5.24	5.24	0.73138	.	0.112377	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-32.2084	17.7611	0.88465	0.0:0.0:1.0:0.0	.	.	.	.	X	48;270;89	.	ENSP00000199448:E270X	E	+	1	0	EPDR1	37955145	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	9.657000	0.98554	2.729000	0.93468	0.655000	0.94253	GAG		0.493	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	91	1	0	3.09899e-07	1	3.27709e-07	8	91				
ANKRD30A	91074	broad.mit.edu	37	10	37447507	37447507	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:37447507C>G	ENST00000602533.1	+	15	1824	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F575L|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.F575L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	631					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCAAACTTTCAAAGCAGGTA	0.303																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1723-1725)ttC>ttG		ankyrin repeat domain 30A							78.0	72.0	74.0					10																	37447507		1795	4056	5851	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37447507C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1725C>G	10.37:g.37447507C>G	ENSP00000473551:p.Phe575Leu					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F575L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F575L	p.F575L			Q9BXX3	AN30A_HUMAN			15	1824	+			631					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1725C>G		.	.	.	.	.	.	.	.	.	.	.	1.948	-0.442022	0.04604	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04603	3.59;3.59	1.59	-2.34	0.06704	.	.	.	.	.	T	0.02610	0.0079	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48958	-0.8988	9	0.12430	T	0.62	.	0.5441	0.00651	0.2448:0.3302:0.2423:0.1827	.	631	Q9BXX3	AN30A_HUMAN	L	575	ENSP00000354432:F575L;ENSP00000363792:F575L	ENSP00000354432:F575L	F	+	3	2	ANKRD30A	37487513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.036000	0.03560	-0.708000	0.05015	-0.775000	0.03384	TTC		0.303	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	54	0	0	0	1	0	7	54				
KIF16B	55614	broad.mit.edu	37	20	16348101	16348101	+	Intron	SNP	C	C	T	rs369447121		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16348101C>T	ENST00000354981.2	-	22	3656				KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1290Q|KIF16B_ENST00000378003.2_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGTATGTTTCGAGATCGAAT	0.453																																						ENST00000408042.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3868-3870)cGa>cAa		kinesin family member 16B		C	,GLN/ARG,	0,1752		0,0,876	208.0	191.0	196.0		,3869,	0.1	0.0	20		196	2,3980		0,2,1989	no	intron,missense,intron	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	,43,	0,2,2865	TT,TC,CC		0.0502,0.0,0.0349	,,	,1290/1393,	16348101	2,5732	876	1991	2867	SO:0001627	intron_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16348101C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3129G>A	20.37:g.16348101C>T						KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron	p.R1290Q	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN			23	4026	-			0			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3869G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603110	0.28534	0.0	5.02E-4	ENSG00000089177	ENST00000408042	T	0.69806	-0.43	5.62	0.139	0.14798	.	2.237520	0.01921	N	0.040517	T	0.48660	0.1512	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17868	-1.0355	9	0.25751	T	0.34	.	3.0937	0.06302	0.6219:0.1188:0.1442:0.1151	.	1290	Q96L93-2	.	Q	1290	ENSP00000384164:R1290Q	ENSP00000384164:R1290Q	R	-	2	0	KIF16B	16296101	0.007000	0.16637	0.001000	0.08648	0.138000	0.21146	1.441000	0.35035	0.072000	0.16694	-1.860000	0.00561	CGA		0.453	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		15	134	0	0	0	1	0	15	134				
PCDHB6	56130	broad.mit.edu	37	5	140531209	140531209	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:140531209C>T	ENST00000231136.1	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDHB6_ENST00000543635.1_Silent_p.F321F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	457	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F457F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.612																																						ENST00000231136.1																			1	Substitution - coding silent(1)	p.F457F(1)	large_intestine(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1369-1371)ttC>ttT									79.0	88.0	85.0					5																	140531209		2203	4297	6500	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531209C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1371C>T	5.37:g.140531209C>T						PCDHB6_ENST00000543635.1_Silent_p.F321F	p.F457F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1371	+			457			Cadherin 5.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1371C>T	CCDS4248.1																																																																																				0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		23	221	0	0	0	1	0	23	221				
UTRN	7402	broad.mit.edu	37	6	145157645	145157645	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:145157645C>A	ENST00000367545.3	+	70	10033	c.10033C>A	c.(10033-10035)Cag>Aag	p.Q3345K	UTRN_ENST00000367526.4_Missense_Mutation_p.Q900K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3345					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTGGAGTCTCAGCTCCACCG	0.532																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(10033-10035)Cag>Aag		utrophin							41.0	39.0	40.0					6																	145157645		2203	4299	6502	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157645C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.10033C>A	6.37:g.145157645C>A	ENSP00000356515:p.Gln3345Lys					UTRN_ENST00000367526.4_Missense_Mutation_p.Q900K	p.Q3345K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	10033	+		Ovarian(120;0.218)	3345					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.10033C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215034	0.95104	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	D;T	0.81739	-1.53;2.21	5.91	5.91	0.95273	.	0.000000	0.51477	D	0.000091	D	0.90181	0.6931	M	0.83603	2.65	0.53688	D	0.999974	D	0.69078	0.997	D	0.87578	0.998	D	0.90329	0.4350	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	3345	P46939	UTRO_HUMAN	K	3345;900	ENSP00000356515:Q3345K;ENSP00000356496:Q900K	ENSP00000356496:Q900K	Q	+	1	0	UTRN	145199338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	CAG		0.532	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			22	41	1	0	1.2644e-06	1	1.3269e-06	22	41				
ZSCAN29	146050	broad.mit.edu	37	15	43653870	43653870	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:43653870G>C	ENST00000396976.2	-	5	2094	c.1960C>G	c.(1960-1962)Ctc>Gtc	p.L654V	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.L264V|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.L265V	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	654					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGTATTTGAGATATTTATAG	0.443																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1960-1962)Ctc>Gtc		zinc finger and SCAN domain containing 29							152.0	154.0	153.0					15																	43653870		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43653870G>C	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1960C>G	15.37:g.43653870G>C	ENSP00000380174:p.Leu654Val					ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.L264V|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.L265V	p.L654V	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	2094	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	654					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1960C>G	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	1.408	-0.576277	0.03882	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.28069	1.63;1.63	4.57	2.63	0.31362	.	0.143649	0.32444	N	0.006090	T	0.27241	0.0668	L	0.52573	1.65	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.17198	-1.0377	10	0.30078	T	0.28	-0.8643	12.9505	0.58399	0.0:0.3102:0.6898:0.0	.	265;654	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	V	654;265	ENSP00000380174:L654V;ENSP00000380170:L265V	ENSP00000380170:L265V	L	-	1	0	ZSCAN29	41441162	0.000000	0.05858	0.831000	0.32960	0.008000	0.06430	-0.724000	0.04947	0.614000	0.30107	-0.175000	0.13238	CTC		0.443	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		18	97	0	0	0	1	0	18	97				
HTR1A	3350	broad.mit.edu	37	5	63257481	63257481	+	Silent	SNP	G	G	A	rs200335552		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:63257481G>A	ENST00000323865.3	-	1	299	c.66C>T	c.(64-66)ggC>ggT	p.G22G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	22			G -> S (in dbSNP:rs1799920). {ECO:0000269|PubMed:7755630}.		adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TAGTGTTGCCGCCGGTCTCAA	0.632																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(64-66)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						95.0	93.0	94.0					5																	63257481		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257481G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.66C>T	5.37:g.63257481G>A						RP11-158J3.2_ENST00000502882.1_RNA	p.G22G	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	299	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	22		G -> S (in dbSNP:rs1799920).			Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.66C>T	CCDS34168.1																																																																																				0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		36	68	0	0	0	1	0	36	68				
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(871-873)gCg>gTg		gigaxonin							182.0	162.0	169.0					16																	81391435		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81391435C>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.872C>T	16.37:g.81391435C>T	ENSP00000476795:p.Ala291Val						p.A291V	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			5	1034	+		Colorectal(91;0.153)	291						Missense_Mutation	SNP	ENST00000568107.2	37	c.872C>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192697	0.38707	.	.	ENSG00000127688	ENST00000248272	T	0.74737	-0.87	5.94	2.64	0.31445	Galactose oxidase, beta-propeller (1);	0.618014	0.18018	N	0.154339	T	0.53867	0.1823	N	0.14661	0.345	0.31137	N	0.707028	B	0.06786	0.001	B	0.01281	0.0	T	0.53049	-0.8493	10	0.45353	T	0.12	.	6.9145	0.24352	0.0:0.5983:0.0:0.4017	.	291	Q9H2C0	GAN_HUMAN	V	291	ENSP00000248272:A291V	ENSP00000248272:A291V	A	+	2	0	GAN	79948936	0.865000	0.29922	0.163000	0.22734	0.760000	0.43138	1.208000	0.32345	0.854000	0.35336	0.557000	0.71058	GCG		0.433	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			4	160	0	0	0	1	0	4	160				
MTUS1	57509	broad.mit.edu	37	8	17579328	17579328	+	Intron	SNP	G	G	A	rs200564270		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:17579328G>A	ENST00000262102.6	-	4	2674				MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381861.3_Missense_Mutation_p.P28L|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGAACCAGCCGGTGGGGTGAG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		17944	0.0		0.001	False		,,,				2504	0.0					ENST00000381861.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(82-84)cCg>cTg		microtubule associated tumor suppressor 1							83.0	84.0	84.0					8																	17579328		1863	4092	5955	SO:0001627	intron_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17579328G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2449+1852C>T	8.37:g.17579328G>A						MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron	p.P28L	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	1	402	-			0					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.83C>T	CCDS43717.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.7	4.028305	0.75390	.	.	ENSG00000129422	ENST00000381861	T	0.14640	2.49	5.48	5.48	0.80851	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.80722	D	1	P	0.49559	0.925	B	0.35278	0.199	T	0.01909	-1.1249	8	0.87932	D	0	.	13.0202	0.58781	0.0738:0.0:0.9262:0.0	.	28	Q9ULD2-6	.	L	28	ENSP00000371285:P28L	ENSP00000371285:P28L	P	-	2	0	MTUS1	17623608	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.680000	0.54641	2.738000	0.93877	0.655000	0.94253	CCG		0.423	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		5	53	0	0	0	1	0	5	53				
DSC2	1824	broad.mit.edu	37	18	28663006	28663006	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28663006C>T	ENST00000280904.6	-	8	1406	c.963G>A	c.(961-963)ttG>ttA	p.L321L	DSC2_ENST00000251081.6_Silent_p.L321L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	321	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTTTATTTTCAACTGGTACT	0.303																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(961-963)ttG>ttA		desmocollin 2							88.0	84.0	85.0					18																	28663006		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28663006C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.963G>A	18.37:g.28663006C>T						DSC2_ENST00000251081.6_Silent_p.L321L	p.L321L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		8	1406	-			321			Cadherin 2.			Silent	SNP	ENST00000280904.6	37	c.963G>A	CCDS11892.1																																																																																				0.303	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	8	0	0	0	1	0	3	8				
ALDH1L1	10840	broad.mit.edu	37	3	125824636	125824636	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:125824636C>T	ENST00000393434.2	-	22	2935	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	ALDH1L1_ENST00000472186.1_Silent_p.T862T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.T761T|ALDH1L1_ENST00000273450.3_Silent_p.T872T|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	862	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCTTGTTGTACGTGTTGACAA	0.527																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2584-2586)acG>acA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						218.0	203.0	208.0					3																	125824636		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824636C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2586G>A	3.37:g.125824636C>T						ALDH1L1_ENST00000273450.3_Silent_p.T872T|ALDH1L1_ENST00000452905.2_Silent_p.T761T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.T862T|ALDH1L1_ENST00000393431.2_3'UTR	p.T862T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2935	-			862			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2586G>A	CCDS3034.1																																																																																				0.527	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		12	161	0	0	0	1	0	12	161				
FBXO7	25793	broad.mit.edu	37	22	32881150	32881150	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:32881150C>T	ENST00000266087.7	+	4	1068	c.741C>T	c.(739-741)tcC>tcT	p.S247S	FBXO7_ENST00000382058.3_Silent_p.S168S|FBXO7_ENST00000397426.1_Silent_p.S133S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	247	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGGCAGCTCCGCTACTCTCA	0.502																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(739-741)tcC>tcT		F-box protein 7							151.0	128.0	136.0					22																	32881150		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32881150C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.741C>T	22.37:g.32881150C>T						FBXO7_ENST00000382058.3_Silent_p.S168S|FBXO7_ENST00000397426.1_Silent_p.S133S	p.S247S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			4	1068	+			247					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.741C>T	CCDS13907.1																																																																																				0.502	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			9	75	0	0	0	1	0	9	75				
PREX1	57580	broad.mit.edu	37	20	47305300	47305300	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:47305300G>A	ENST00000371941.3	-	10	1251	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	PREX1_ENST00000396220.1_Missense_Mutation_p.A410V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	410					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCCTTCTCCGCAATCATGAC	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1228-1230)gCg>gTg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							177.0	126.0	144.0					20																	47305300		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47305300G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1229C>T	20.37:g.47305300G>A	ENSP00000361009:p.Ala410Val					PREX1_ENST00000371941.3_Missense_Mutation_p.A410V	p.A410V			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		10	1251	-			410					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1229C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301911	0.95601	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.13089	2.62;2.62	5.29	5.29	0.74685	.	0.109676	0.38326	U	0.001722	T	0.09774	0.0240	N	0.08118	0	0.80722	D	1	P	0.43542	0.81	B	0.40199	0.322	T	0.23904	-1.0175	10	0.45353	T	0.12	.	18.9402	0.92602	0.0:0.0:1.0:0.0	.	410	Q8TCU6	PREX1_HUMAN	V	410	ENSP00000361009:A410V;ENSP00000379522:A410V	ENSP00000361009:A410V	A	-	2	0	PREX1	46738707	1.000000	0.71417	0.235000	0.24058	0.991000	0.79684	9.722000	0.98770	2.463000	0.83235	0.563000	0.77884	GCG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		4	125	0	0	0	1	0	4	125				
NBEAL1	65065	broad.mit.edu	37	2	204009827	204009827	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:204009827A>T	ENST00000449802.1	+	32	5494	c.5161A>T	c.(5161-5163)Atg>Ttg	p.M1721L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1721										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAAGCTTTAATGGTAAATAT	0.338																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5161-5163)Atg>Ttg		neurobeachin-like 1							97.0	94.0	95.0					2																	204009827		1839	4083	5922	SO:0001583	missense	65065						binding	g.chr2:204009827A>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5161A>T	2.37:g.204009827A>T	ENSP00000399903:p.Met1721Leu						p.M1721L	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			32	5494	+			1721					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5161A>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138358	0.56936	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54479	0.57	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.77820	2.39	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.52953	-0.8506	10	0.30078	T	0.28	.	15.5454	0.76093	1.0:0.0:0.0:0.0	.	1721;1710	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	L	1721	ENSP00000399903:M1721L	ENSP00000344985:M1721L	M	+	1	0	NBEAL1	203718072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.909000	0.92647	2.215000	0.71742	0.528000	0.53228	ATG		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	24	0	0	0	1	0	7	24				
DSC2	1824	broad.mit.edu	37	18	28662371	28662371	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:28662371C>T	ENST00000280904.6	-	9	1539	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	DSC2_ENST00000251081.6_Missense_Mutation_p.E366K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	366	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTGTATTTTCTTCCACTGAT	0.328																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1096-1098)Gaa>Aaa		desmocollin 2							74.0	71.0	72.0					18																	28662371		2201	4300	6501	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662371C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1096G>A	18.37:g.28662371C>T	ENSP00000280904:p.Glu366Lys					DSC2_ENST00000251081.6_Missense_Mutation_p.E366K	p.E366K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1539	-			366			Cadherin 3.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1096G>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311997	0.95655	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.76316	-1.01;-1.01	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.000000	0.33217	N	0.005141	D	0.92648	0.7664	H	0.98218	4.175	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.65140	0.932;0.888	D	0.94748	0.7925	10	0.87932	D	0	.	19.0725	0.93145	0.0:1.0:0.0:0.0	.	366;366	Q02487;Q02487-2	DSC2_HUMAN;.	K	366;366;132;379	ENSP00000251081:E366K;ENSP00000280904:E366K	ENSP00000251081:E366K	E	-	1	0	DSC2	26916369	0.994000	0.37717	1.000000	0.80357	0.887000	0.51463	5.053000	0.64269	2.804000	0.96469	0.650000	0.86243	GAA		0.328	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		7	25	0	0	0	1	0	7	25				
TYK2	7297	broad.mit.edu	37	19	10477149	10477149	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10477149G>C	ENST00000525621.1	-	6	1054	c.573C>G	c.(571-573)ctC>ctG	p.L191L	TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000264818.6_Silent_p.L191L|TYK2_ENST00000524462.1_Silent_p.L6L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	191	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGGTGACAGAGGTGCAGAA	0.582																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(571-573)ctC>ctG		tyrosine kinase 2							137.0	125.0	129.0					19																	10477149		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10477149G>C		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.573C>G	19.37:g.10477149G>C						TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000524462.1_Silent_p.L6L|TYK2_ENST00000264818.6_Silent_p.L191L	p.L191L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		6	1054	-			191			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.573C>G	CCDS12236.1																																																																																				0.582	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			22	125	0	0	0	1	0	22	125				
MAF1	84232	broad.mit.edu	37	8	145160601	145160601	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160601G>C	ENST00000322428.5	+	2	419	c.15G>C	c.(13-15)gaG>gaC	p.E5D	MAF1_ENST00000532522.1_Missense_Mutation_p.E5D|MAF1_ENST00000534585.1_Missense_Mutation_p.E5D|SHARPIN_ENST00000533948.1_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|KIAA1875_ENST00000323662.8_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	5					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTATTGGAGAACTCGAGCT	0.572																																						ENST00000534585.1																			0				central_nervous_system(1)|lung(8)|urinary_tract(1)	10						c.(13-15)gaG>gaC		MAF1 homolog (S. cerevisiae)							84.0	76.0	79.0					8																	145160601		2203	4300	6503	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145160601G>C		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.15G>C	8.37:g.145160601G>C	ENSP00000318604:p.Glu5Asp					MAF1_ENST00000322428.5_Missense_Mutation_p.E5D|MAF1_ENST00000532522.1_Missense_Mutation_p.E5D	p.E5D			Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	406	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.15G>C	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432253	0.43122	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	T;T;T	0.52057	0.7;0.68;0.7	5.36	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	L	0.60012	1.86	0.52099	D	0.999943	D	0.69078	0.997	D	0.68039	0.955	T	0.50224	-0.8853	10	0.24483	T	0.36	-23.5884	7.5812	0.27965	0.316:0.0:0.684:0.0	.	5	Q9H063	MAF1_HUMAN	D	5	ENSP00000318604:E5D;ENSP00000433979:E5D;ENSP00000436720:E5D	ENSP00000318604:E5D	E	+	3	2	MAF1	145232589	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.337000	0.43947	0.634000	0.30469	0.462000	0.41574	GAG		0.572	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		16	93	0	0	0	1	0	16	93				
P2RY11	5032	broad.mit.edu	37	19	10224616	10224616	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:10224616C>T	ENST00000321826.4	+	2	511	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PPAN_ENST00000556468.1_Silent_p.F529F|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.F529F	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	109					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GCTTCCTCTTCACCTGCAACC	0.667											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1585-1587)ttC>ttT		peter pan homolog (Drosophila)							76.0	66.0	70.0					19																	10224616		2203	4300	6503	SO:0001819	synonymous_variant	56342							g.chr19:10224616C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.327C>T	19.37:g.10224616C>T			OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.F529F|P2RY11_ENST00000321826.4_Silent_p.F109F	p.F529F					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1614	+								B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.1587C>T	CCDS12226.1																																																																																				0.667	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		6	99	0	0	0	1	0	6	99				
TOM1L2	146691	broad.mit.edu	37	17	17754216	17754216	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:17754216C>T	ENST00000379504.3	-	13	1412	c.1329G>A	c.(1327-1329)agG>agA	p.R443R	TOM1L2_ENST00000318094.10_Silent_p.R398R|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000395739.4_Silent_p.R398R|TOM1L2_ENST00000478943.1_Silent_p.R176R|TOM1L2_ENST00000542206.1_Silent_p.R324R|TOM1L2_ENST00000581396.1_Silent_p.R393R|TOM1L2_ENST00000535933.1_Silent_p.R419R	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	443					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CCAGGTCGGTCCTGAGCCACA	0.622																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1177-1179)agG>agA		target of myb1-like 2 (chicken)							123.0	105.0	111.0					17																	17754216		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17754216C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1329G>A	17.37:g.17754216C>T						TOM1L2_ENST00000478943.1_Silent_p.R176R|TOM1L2_ENST00000542206.1_Silent_p.R324R|TOM1L2_ENST00000379504.3_Silent_p.R443R|TOM1L2_ENST00000318094.10_Silent_p.R398R|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R419R|TOM1L2_ENST00000395739.4_Silent_p.R398R	p.R393R	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			12	1275	-	all_neural(463;0.228)		443					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.1179G>A	CCDS42270.1																																																																																				0.622	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			29	112	0	0	0	1	0	29	112				
NIN	51199	broad.mit.edu	37	14	51237162	51237162	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51237162C>G	ENST00000382041.3	-	12	1568	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	NIN_ENST00000389868.3_Missense_Mutation_p.E460Q|NIN_ENST00000245441.5_Missense_Mutation_p.E460Q|NIN_ENST00000530997.2_Missense_Mutation_p.E460Q|NIN_ENST00000324330.9_Missense_Mutation_p.E460Q|NIN_ENST00000453196.1_Missense_Mutation_p.E460Q|NIN_ENST00000382043.4_Missense_Mutation_p.E460Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	460					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTGCCTTTTCAATTTCCTGT	0.468			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(1378-1380)Gaa>Caa		ninein (GSK3B interacting protein)							199.0	173.0	182.0					14																	51237162		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51237162C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1378G>C	14.37:g.51237162C>G	ENSP00000371472:p.Glu460Gln					NIN_ENST00000324330.9_Missense_Mutation_p.E460Q|NIN_ENST00000389868.3_Missense_Mutation_p.E460Q|NIN_ENST00000453196.1_Missense_Mutation_p.E460Q|NIN_ENST00000382041.3_Missense_Mutation_p.E460Q|NIN_ENST00000382043.4_Missense_Mutation_p.E460Q|NIN_ENST00000530997.2_Missense_Mutation_p.E460Q	p.E460Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			12	1568	-	all_epithelial(31;0.00244)|Breast(41;0.127)		460					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1378G>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212782	0.58452	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.85	4.95	0.65309	.	0.450855	0.27249	N	0.020229	T	0.20700	0.0498	L	0.47716	1.5	0.21445	N	0.99969	B;P;P;B;B	0.41313	0.25;0.745;0.573;0.03;0.141	B;B;B;B;B	0.38296	0.109;0.27;0.193;0.005;0.067	T	0.09292	-1.0681	10	0.21540	T	0.41	-11.0265	16.3377	0.83071	0.0:0.8683:0.1317:0.0	.	466;460;460;460;460	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	460;460;460;460;466;460;460;460	ENSP00000245441:E460Q;ENSP00000374518:E460Q;ENSP00000371474:E460Q;ENSP00000371472:E460Q;ENSP00000324210:E460Q;ENSP00000412391:E460Q	ENSP00000245441:E460Q	E	-	1	0	NIN	50306912	0.991000	0.36638	0.948000	0.38648	0.606000	0.37113	2.882000	0.48546	1.456000	0.47831	0.650000	0.86243	GAA		0.468	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		17	56	0	0	0	1	0	17	56				
PIGL	9487	broad.mit.edu	37	17	16120651	16120651	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16120651G>A	ENST00000225609.5	+	1	128	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000498772.2_Silent_p.L37L|NCOR1_ENST00000268712.3_5'Flank|PIGL_ENST00000581006.1_Silent_p.L37L|PIGL_ENST00000395844.4_Silent_p.L37L	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	37					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGGACGGCTGGGAGCCGAAA	0.612																																						ENST00000225609.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(109-111)ctG>ctA		phosphatidylinositol glycan anchor biosynthesis, class L							114.0	105.0	108.0					17																	16120651		2203	4300	6503	SO:0001819	synonymous_variant	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16120651G>A	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.111G>A	17.37:g.16120651G>A						PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Silent_p.L37L|PIGL_ENST00000498772.2_Silent_p.L37L|PIGL_ENST00000395844.3_Silent_p.L37L	p.L37L	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	1	128	+			37					A8KA67|B4DYN4	Silent	SNP	ENST00000225609.5	37	c.111G>A	CCDS11176.1																																																																																				0.612	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			14	95	0	0	0	1	0	14	95				
MFNG	4242	broad.mit.edu	37	22	37870703	37870703	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:37870703G>A	ENST00000356998.3	-	6	883	c.660C>T	c.(658-660)ttC>ttT	p.F220F	MFNG_ENST00000416983.3_Silent_p.F206F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	220					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ATGTGTCCATGAAACGGGAGC	0.642																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(658-660)ttC>ttT		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							49.0	49.0	49.0					22																	37870703		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37870703G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.660C>T	22.37:g.37870703G>A						MFNG_ENST00000416983.3_Silent_p.F206F	p.F220F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			6	883	-	Melanoma(58;0.0574)		220					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.660C>T	CCDS13947.1																																																																																				0.642	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		5	72	0	0	0	1	0	5	72				
AGGF1	55109	broad.mit.edu	37	5	76331456	76331456	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:76331456C>G	ENST00000312916.7	+	3	786	c.404C>G	c.(403-405)tCt>tGt	p.S135C	AGGF1_ENST00000503538.1_3'UTR|AGGF1_ENST00000506806.1_Missense_Mutation_p.S135C	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	135					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCGAAACTTCTATTTTGAAT	0.338																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(403-405)tCt>tGt		angiogenic factor with G patch and FHA domains 1							79.0	82.0	81.0					5																	76331456		2203	4299	6502	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76331456C>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.404C>G	5.37:g.76331456C>G	ENSP00000316109:p.Ser135Cys					AGGF1_ENST00000506806.1_Missense_Mutation_p.S135C|AGGF1_ENST00000503538.1_3'UTR	p.S135C	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	3	786	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	135					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.404C>G	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.479994	0.26598	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.79352	1.16;-1.26	5.96	5.1	0.69264	.	0.852914	0.10909	N	0.620805	T	0.79986	0.4541	L	0.47716	1.5	0.09310	N	1	D;D	0.60575	0.973;0.988	P;P	0.53360	0.533;0.724	T	0.69339	-0.5171	10	0.72032	D	0.01	-20.1765	10.5837	0.45269	0.0:0.8534:0.0:0.1466	.	135;135	Q8N302;Q8N302-3	AGGF1_HUMAN;.	C	135	ENSP00000316109:S135C;ENSP00000424733:S135C	ENSP00000316109:S135C	S	+	2	0	AGGF1	76367212	0.001000	0.12720	0.021000	0.16686	0.007000	0.05969	1.204000	0.32296	1.538000	0.49270	0.650000	0.86243	TCT		0.338	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		10	46	0	0	0	1	0	10	46				
SERPINA1	5265	broad.mit.edu	37	14	94847215	94847215	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:94847215C>T	ENST00000448921.1	-	5	1482	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SERPINA1_ENST00000393088.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D304N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D304N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	304					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CACCTTCTGTCTTCATTTTCC	0.537																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(910-912)Gac>Aac		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						138.0	141.0	140.0					14																	94847215		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847215C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.910G>A	14.37:g.94847215C>T	ENSP00000416066:p.Asp304Asn					SERPINA1_ENST00000393088.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D304N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D304N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.D304N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.D304N	p.D304N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1482	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	304					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.910G>A	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382862	0.04966	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.65	-9.3	0.00649	Serpin domain (3);	3.912330	0.00397	N	0.000056	T	0.65217	0.2670	N	0.25245	0.725	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56038	-0.8045	10	0.22706	T	0.39	.	2.0501	0.03569	0.3213:0.3552:0.0962:0.2273	.	304;304	P01009-2;P01009	.;A1AT_HUMAN	N	304	ENSP00000390299:D304N;ENSP00000416066:D304N;ENSP00000408474:D304N;ENSP00000348068:D304N;ENSP00000376802:D304N;ENSP00000376803:D304N;ENSP00000385960:D304N;ENSP00000416354:D304N;ENSP00000386094:D304N	ENSP00000348068:D304N	D	-	1	0	SERPINA1	93916968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.352000	0.00248	-4.457000	0.00048	-1.994000	0.00447	GAC		0.537	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		46	90	0	0	0	1	0	46	90				
IPO7	10527	broad.mit.edu	37	11	9451226	9451226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:9451226G>T	ENST00000379719.3	+	15	1739	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	533					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TACAGCTAAAGAATATATCAC	0.303																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1597-1599)Gaa>Taa		importin 7							42.0	40.0	41.0					11																	9451226		2200	4294	6494	SO:0001587	stop_gained	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9451226G>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1597G>T	11.37:g.9451226G>T	ENSP00000369042:p.Glu533*						p.E533*	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	15	1739	+			533					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Nonsense_Mutation	SNP	ENST00000379719.3	37	c.1597G>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	40	8.059821	0.98632	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.95	5.95	0.96441	.	0.044369	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	533	.	ENSP00000369042:E533X	E	+	1	0	IPO7	9407802	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.303	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		3	22	1	0	1	1	1	3	22				
CD96	10225	broad.mit.edu	37	3	111316966	111316966	+	Splice_Site	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:111316966G>C	ENST00000283285.5	+	7	986		c.e7-1		ZBED2_ENST00000317012.4_5'Flank|CD96_ENST00000438817.2_Splice_Site|CD96_ENST00000352690.4_Splice_Site	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTTACCCCAGAGAAGATTTA	0.323									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.e6-1		CD96 molecule							103.0	118.0	113.0					3																	111316966		2203	4295	6498	SO:0001630	splice_region_variant	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111316966G>C	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.856-1G>C	3.37:g.111316966G>C						CD96_ENST00000283285.5_Splice_Site|CD96_ENST00000438817.2_Splice_Site		NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			6	1047	+								Q5JPB3	Splice_Site	SNP	ENST00000283285.5	37		CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207625	0.58343	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4479	0.61151	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD96	112799656	1.000000	0.71417	0.978000	0.43139	0.883000	0.51084	4.319000	0.59197	2.639000	0.89480	0.655000	0.94253	.		0.323	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		Intron	51	72	0	0	0	1	0	51	72				
COG8	84342	broad.mit.edu	37	16	69370550	69370550	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:69370550C>T	ENST00000306875.4	-	2	557	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.12_ENST00000562949.1_5'Flank|NIP7_ENST00000254940.5_5'Flank|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.R23Q|NIP7_ENST00000569637.2_5'Flank|COG8_ENST00000562081.1_Missense_Mutation_p.R148Q	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	148					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTCTGTGTGCCGGTTTAGGGT	0.478																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(442-444)cGg>cAg		component of oligomeric golgi complex 8							114.0	107.0	109.0					16																	69370550		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69370550C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.443G>A	16.37:g.69370550C>T	ENSP00000305459:p.Arg148Gln					RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.R23Q|COG8_ENST00000562081.1_Missense_Mutation_p.R148Q	p.R148Q	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			2	557	-			148					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.443G>A	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024382	0.75390	.	.	ENSG00000213380	ENST00000306875	T	0.45668	0.89	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.51914	1.62	0.58432	D	0.999999	P;P	0.42456	0.78;0.78	B;B	0.39531	0.302;0.302	T	0.12785	-1.0534	10	0.20046	T	0.44	-0.6095	20.3363	0.98740	0.0:1.0:0.0:0.0	.	175;148	B4DYU2;Q96MW5	.;COG8_HUMAN	Q	148	ENSP00000305459:R148Q	ENSP00000305459:R148Q	R	-	2	0	COG8	67928051	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	7.431000	0.80335	2.814000	0.96858	0.563000	0.77884	CGG		0.478	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		4	78	0	0	0	1	0	4	78				
OR51S1	119692	broad.mit.edu	37	11	4870167	4870167	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:4870167C>A	ENST00000322101.2	-	1	347	c.272G>T	c.(271-273)gGc>gTc	p.G91V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGGCGATGCCCAGCAGTGT	0.552																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(271-273)gGc>gTc		olfactory receptor, family 51, subfamily S, member 1							117.0	97.0	104.0					11																	4870167		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870167C>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.272G>T	11.37:g.4870167C>A	ENSP00000322754:p.Gly91Val					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.G91V	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	347	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	91					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.272G>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578776	0.28180	.	.	ENSG00000176922	ENST00000322101	T	0.04406	3.63	4.65	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.167870	0.28589	N	0.014814	T	0.08044	0.0201	L	0.35854	1.095	0.48762	D	0.999702	P	0.47841	0.901	P	0.49999	0.628	T	0.10109	-1.0644	10	0.66056	D	0.02	-5.3441	12.0727	0.53626	0.0:0.9127:0.0:0.0873	.	91	Q8NGJ8	O51S1_HUMAN	V	91	ENSP00000322754:G91V	ENSP00000322754:G91V	G	-	2	0	OR51S1	4826743	0.621000	0.27077	0.990000	0.47175	0.085000	0.17905	1.728000	0.38105	2.404000	0.81709	0.563000	0.77884	GGC		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		9	105	1	0	3.09899e-07	1	3.27709e-07	9	105				
FUT3	2525	broad.mit.edu	37	19	5844676	5844676	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:5844676T>G	ENST00000303225.6	-	3	809	c.175A>C	c.(175-177)Acc>Ccc	p.T59P	FUT3_ENST00000589620.1_Missense_Mutation_p.T59P|FUT3_ENST00000589918.1_Missense_Mutation_p.T59P|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.T59P|AC024592.9_ENST00000589276.1_RNA	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	59					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGGGCGGGTGGGAGTGGTG	0.637																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(175-177)Acc>Ccc		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							21.0	25.0	24.0					19																	5844676		2201	4299	6500	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844676T>G		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.175A>C	19.37:g.5844676T>G	ENSP00000305603:p.Thr59Pro					FUT3_ENST00000458379.2_Missense_Mutation_p.T59P|FUT3_ENST00000589620.1_Missense_Mutation_p.T59P|FUT3_ENST00000589918.1_Missense_Mutation_p.T59P	p.T59P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	809	-			59					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.175A>C	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	T	9.152	1.016533	0.19355	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23754	1.89;1.89	2.33	-1.24	0.09435	.	2.018410	0.03746	N	0.255806	T	0.11239	0.0274	N	0.03948	-0.315	0.09310	N	1	B;B;B;B	0.25904	0.137;0.137;0.061;0.137	B;B;B;B	0.29716	0.06;0.06;0.106;0.06	T	0.15925	-1.0420	10	0.27082	T	0.32	.	2.8178	0.05463	0.0:0.2384:0.2445:0.5171	.	59;59;59;59	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	P	59	ENSP00000305603:T59P;ENSP00000416443:T59P	ENSP00000305603:T59P	T	-	1	0	FUT3	5795676	0.000000	0.05858	0.001000	0.08648	0.376000	0.30014	-1.455000	0.02379	-0.554000	0.06150	0.172000	0.16884	ACC		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		6	53	0	0	0	1	0	6	53				
TRBV19	28568	broad.mit.edu	37	7	142326894	142326894	+	RNA	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142326894G>T	ENST00000390393.3	+	0	400									T cell receptor beta variable 19																		GGCTGAGATTGATCTACTACT	0.468																																						ENST00000390393.3																			0																				172.0	172.0	172.0					7																	142326894		1935	4132	6067			28568							g.chr7:142326894G>T	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326894G>T														0	400	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.468	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		64	161	1	0	1.85257e-25	1	2.03709e-25	64	161				
ADRB2	154	broad.mit.edu	37	5	148207021	148207021	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:148207021C>T	ENST00000305988.4	+	1	866	c.627C>T	c.(625-627)taC>taT	p.Y209Y		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	209					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGTCCTTCTACGTTCCCCTGG	0.532																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(625-627)taC>taT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						293.0	244.0	261.0					5																	148207021		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207021C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.627C>T	5.37:g.148207021C>T							p.Y209Y	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	866	+			209					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.627C>T	CCDS4292.1																																																																																				0.532	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		4	187	0	0	0	1	0	4	187				
CKAP4	10970	broad.mit.edu	37	12	106633325	106633325	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:106633325C>G	ENST00000378026.4	-	2	1422	c.1286G>C	c.(1285-1287)cGc>cCc	p.R429P	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	429						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCGGTCTGGCGCGCAGAAGC	0.662																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(1285-1287)cGc>cCc		cytoskeleton-associated protein 4							44.0	48.0	47.0					12																	106633325		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633325C>G	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1286G>C	12.37:g.106633325C>G	ENSP00000367265:p.Arg429Pro						p.R429P	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1422	-			429					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.1286G>C	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740627	0.30865	.	.	ENSG00000136026	ENST00000378026	T	0.78595	-1.19	5.94	-4.31	0.03698	.	0.961040	0.08746	N	0.899837	T	0.70133	0.3189	M	0.65975	2.015	0.09310	N	1	P	0.43094	0.799	B	0.33960	0.173	T	0.63739	-0.6569	10	0.51188	T	0.08	-8.5826	13.184	0.59670	0.0:0.2482:0.0:0.7518	.	429	Q07065	CKAP4_HUMAN	P	429	ENSP00000367265:R429P	ENSP00000367265:R429P	R	-	2	0	CKAP4	105157455	0.000000	0.05858	0.003000	0.11579	0.559000	0.35586	-0.464000	0.06688	-0.713000	0.04981	-0.142000	0.14014	CGC		0.662	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			7	105	0	0	0	1	0	7	105				
PAPSS2	9060	broad.mit.edu	37	10	89503153	89503153	+	Missense_Mutation	SNP	C	C	T	rs374301331	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:89503153C>T	ENST00000361175.4	+	10	1600	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R415C|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R416C	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	411					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATTCCAGTTGCGCAATCCTGT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.002					ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1231-1233)Cgc>Tgc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							169.0	154.0	159.0					10																	89503153		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89503153C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1231C>T	10.37:g.89503153C>T	ENSP00000354436:p.Arg411Cys					PAPSS2_ENST00000427144.2_Missense_Mutation_p.R415C|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R416C	p.R411C	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	10	1600	+		Melanoma(5;0.019)|Colorectal(252;0.123)	411					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1231C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072163	0.93950	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.41400	1.0;1.0;1.0	5.46	5.46	0.80206	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046039	0.85682	D	0.000000	T	0.80959	0.4724	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88663	0.3190	10	0.87932	D	0	-18.6128	19.5125	0.95148	0.0:1.0:0.0:0.0	.	411;416	O95340;O95340-2	PAPS2_HUMAN;.	C	411;416;415;415	ENSP00000354436:R411C;ENSP00000406157:R416C;ENSP00000397123:R415C	ENSP00000354436:R411C	R	+	1	0	PAPSS2	89493133	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.315000	0.78998	2.840000	0.97914	0.655000	0.94253	CGC		0.537	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			36	131	0	0	0	1	0	36	131				
MFI2	4241	broad.mit.edu	37	3	196736529	196736529	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:196736529C>T	ENST00000296350.5	-	11	1598	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	495	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGAAGCCTCTCTGAATAAGGG	0.627																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1483-1485)caG>caA		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							47.0	52.0	51.0					3																	196736529		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196736529C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1485G>A	3.37:g.196736529C>T							p.Q495Q	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1598	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		495			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1485G>A	CCDS3325.1																																																																																				0.627	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			12	144	0	0	0	1	0	12	144				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																154754							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	35	0	0	0	1	0	3	35				
FPR1	2357	broad.mit.edu	37	19	52249448	52249448	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:52249448C>T	ENST00000595042.1	-	3	941	c.800G>A	c.(799-801)aGa>aAa	p.R267K	FPR1_ENST00000304748.4_Missense_Mutation_p.R267K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	267					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCACGGATTCTGACTGTGGC	0.507																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(799-801)aGa>aAa		formyl peptide receptor 1	Nedocromil(DB00716)						92.0	74.0	80.0					19																	52249448		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249448C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.800G>A	19.37:g.52249448C>T	ENSP00000471493:p.Arg267Lys					FPR1_ENST00000304748.4_Missense_Mutation_p.R267K	p.R267K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	941	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	267					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.800G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	9.869	1.198508	0.22037	.	.	ENSG00000171051	ENST00000304748	T	0.70749	-0.51	3.65	-2.91	0.05631	GPCR, rhodopsin-like superfamily (1);	0.524413	0.17987	N	0.155330	T	0.54062	0.1835	L	0.33485	1.01	0.09310	N	1	B	0.26672	0.156	B	0.36030	0.216	T	0.46205	-0.9208	10	0.29301	T	0.29	.	4.926	0.13894	0.0:0.4437:0.1538:0.4024	.	267	P21462	FPR1_HUMAN	K	267	ENSP00000302707:R267K	ENSP00000302707:R267K	R	-	2	0	FPR1	56941260	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.083000	0.11286	-0.213000	0.10094	0.650000	0.86243	AGA		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		15	40	0	0	0	1	0	15	40				
TNFRSF21	27242	broad.mit.edu	37	6	47221044	47221044	+	Missense_Mutation	SNP	C	C	T	rs148136049		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:47221044C>T	ENST00000296861.2	-	4	1850	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	486	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ATCGTTTCTCCGGTGCTGGCG	0.612																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1456-1458)cGg>cAg		tumor necrosis factor receptor superfamily, member 21		C	GLN/ARG	0,4406		0,0,2203	52.0	41.0	45.0		1457	6.2	1.0	6	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF21	NM_014452.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	486/656	47221044	1,13005	2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47221044C>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1457G>A	6.37:g.47221044C>T	ENSP00000296861:p.Arg486Gln						p.R486Q	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		4	1850	-			486			Death.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1457G>A	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.956089	0.97145	0.0	1.16E-4	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.84873	-1.91	6.16	6.16	0.99307	Death (3);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.52454	0.699	D	0.83948	0.0315	10	0.87932	D	0	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	486	O75509	TNR21_HUMAN	Q	486;175	ENSP00000296861:R486Q	ENSP00000296861:R486Q	R	-	2	0	TNFRSF21	47329003	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.618000	0.83043	2.937000	0.99478	0.650000	0.86243	CGG		0.612	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		7	20	0	0	0	1	0	7	20				
CNKSR1	10256	broad.mit.edu	37	1	26513909	26513909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:26513909C>T	ENST00000374253.5	+	16	1450	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.Q464*|CNKSR1_ENST00000531191.1_Nonsense_Mutation_p.Q206*	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	471	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGTGTTTCAGCTCACCCA	0.582																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(616-618)Cag>Tag		connector enhancer of kinase suppressor of Ras 1							163.0	140.0	148.0					1																	26513909		2203	4300	6503	SO:0001587	stop_gained	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26513909C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1411C>T	1.37:g.26513909C>T	ENSP00000363371:p.Gln471*					CNKSR1_ENST00000374253.5_Nonsense_Mutation_p.Q471*|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.Q464*	p.Q206*			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	15	1623	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	471			PDZ.		B1AMW9|O95381	Nonsense_Mutation	SNP	ENST00000374253.5	37	c.616C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.485839	0.98312	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	.	.	.	5.56	5.56	0.83823	.	0.255355	0.37857	N	0.001912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.7035	19.1196	0.93357	0.0:1.0:0.0:0.0	.	.	.	.	X	464;471;206	.	ENSP00000354609:Q464X	Q	+	1	0	CNKSR1	26386496	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.396000	0.52565	2.608000	0.88229	0.655000	0.94253	CAG		0.582	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		29	113	0	0	0	1	0	29	113				
FBLL1	345630	broad.mit.edu	37	5	167957251	167957251	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:167957251G>A	ENST00000338333.4	+	1	1131	c.742G>A	c.(742-744)Gac>Aac	p.D248N				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	248	S-adenosyl-L-methionine binding. {ECO:0000250}.				rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										GATCTTCGCCGACGTGGCCCA	0.632																																						ENST00000338333.4																			0											c.(742-744)Gac>Aac									57.0	52.0	54.0					5																	167957251		876	1991	2867	SO:0001583	missense	345630							g.chr5:167957251G>A			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.742G>A	5.37:g.167957251G>A	ENSP00000473383:p.Asp248Asn						p.D248N							1	1131	+									Missense_Mutation	SNP	ENST00000338333.4	37	c.742G>A																																																																																					0.632	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		9	42	0	0	0	1	0	9	42				
MTHFD1L	25902	broad.mit.edu	37	6	151331049	151331049	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:151331049A>T	ENST00000367321.3	+	21	2494	c.2220A>T	c.(2218-2220)ttA>ttT	p.L740F	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	740	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTGTGTTAGTGGCAACGG	0.507																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2218-2220)ttA>ttT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							100.0	96.0	97.0					6																	151331049		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151331049A>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2220A>T	6.37:g.151331049A>T	ENSP00000356290:p.Leu740Phe					MTHFD1L_ENST00000478643.1_3'UTR	p.L740F	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	21	2494	+		Ovarian(120;0.128)	740			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2220A>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114674	0.77210	.	.	ENSG00000120254	ENST00000367321	T	0.29397	1.57	4.43	2.6	0.31112	.	0.000000	0.64402	D	0.000003	T	0.52141	0.1716	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.995;0.991;1.0	T	0.52563	-0.8559	10	0.87932	D	0	.	1.5448	0.02563	0.1823:0.1359:0.4623:0.2196	.	741;495;740	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	F	740	ENSP00000356290:L740F	ENSP00000356290:L740F	L	+	3	2	MTHFD1L	151372742	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	3.246000	0.51414	0.310000	0.22990	-0.137000	0.14449	TTA		0.507	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		15	86	0	0	0	1	0	15	86				
CD22	933	broad.mit.edu	37	19	35832795	35832795	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:35832795G>A	ENST00000085219.5	+	9	2028	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	CD22_ENST00000419549.2_Silent_p.S482S|CD22_ENST00000536635.2_Silent_p.S566S|CD22_ENST00000594250.1_Silent_p.S477S|CD22_ENST00000341773.6_Silent_p.S477S|CD22_ENST00000544992.2_Silent_p.S654S|CD22_ENST00000270311.6_Silent_p.S534S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	654	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCAGCACTCGGGTGCCTACT	0.587																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1960-1962)tcG>tcA		CD22 molecule	OspA lipoprotein(DB00045)						105.0	84.0	91.0					19																	35832795		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832795G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1962G>A	19.37:g.35832795G>A						CD22_ENST00000594250.1_Silent_p.S477S|CD22_ENST00000536635.2_Silent_p.S566S|CD22_ENST00000270311.6_Silent_p.S534S|CD22_ENST00000419549.2_Silent_p.S482S|CD22_ENST00000341773.6_Silent_p.S477S|CD22_ENST00000544992.2_Silent_p.S654S	p.S654S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	2028	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		654			Ig-like C2-type 6.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1962G>A	CCDS12457.1																																																																																				0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		18	85	0	0	0	1	0	18	85				
GP2	2813	broad.mit.edu	37	16	20337672	20337672	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:20337672C>T	ENST00000381362.4	-	2	158	c.82G>A	c.(82-84)Gca>Aca	p.A28T	GP2_ENST00000381360.5_Missense_Mutation_p.A28T|GP2_ENST00000341642.5_Missense_Mutation_p.A28T|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.A28T	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	28					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCTGCACTGCAGATGCCTGG	0.537																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(82-84)Gca>Aca		glycoprotein 2 (zymogen granule membrane)							81.0	74.0	76.0					16																	20337672		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20337672C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.82G>A	16.37:g.20337672C>T	ENSP00000370767:p.Ala28Thr					GP2_ENST00000381360.5_Missense_Mutation_p.A28T|GP2_ENST00000381362.4_Missense_Mutation_p.A28T|GP2_ENST00000341642.5_Missense_Mutation_p.A28T	p.A28T			P55259	GP2_HUMAN			2	231	-			28					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.82G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598082	0.28445	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85	4.76	-3.78	0.04333	.	.	.	.	.	D	0.96062	0.8717	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.15473	0.001;0.001;0.001;0.013	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	D	0.93484	0.6830	9	0.10377	T	0.69	7.0763	8.2813	0.31902	0.0:0.6284:0.1533:0.2183	.	28;153;28;28	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	T	28;28;28;28;153	ENSP00000304044:A28T;ENSP00000370767:A28T;ENSP00000370765:A28T;ENSP00000343861:A28T	ENSP00000304044:A28T	A	-	1	0	GP2	20245173	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.160000	0.10041	-0.875000	0.04022	-0.793000	0.03317	GCA		0.537	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		5	40	0	0	0	1	0	5	40				
MEN1	4221	broad.mit.edu	37	11	64575070	64575070	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64575070G>A	ENST00000337652.1	-	4	1255	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MEN1_ENST00000394374.2_Missense_Mutation_p.S251F|MEN1_ENST00000312049.6_Missense_Mutation_p.S246F|MEN1_ENST00000377326.3_Missense_Mutation_p.S246F|MEN1_ENST00000394376.1_Missense_Mutation_p.S251F|MEN1_ENST00000315422.4_Missense_Mutation_p.S246F|MEN1_ENST00000443283.1_Missense_Mutation_p.S251F|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.S251F|MEN1_ENST00000377316.2_Missense_Mutation_p.S246F|MEN1_ENST00000377321.1_Missense_Mutation_p.S211F	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	251	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A242_I247del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGGTCAATGGAAGGGTTGAT	0.577			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - In frame(1)	p.A242_I247del(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(751-753)tCc>tTc		multiple endocrine neoplasia I							117.0	102.0	107.0					11																	64575070		2201	4297	6498	SO:0001583	missense	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575070G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.752C>T	11.37:g.64575070G>A	ENSP00000337088:p.Ser251Phe					MEN1_ENST00000315422.4_Missense_Mutation_p.S246F|MEN1_ENST00000377313.1_Missense_Mutation_p.S251F|MEN1_ENST00000377316.2_Missense_Mutation_p.S246F|MEN1_ENST00000377326.3_Missense_Mutation_p.S246F|MEN1_ENST00000394374.2_Missense_Mutation_p.S251F|MEN1_ENST00000394376.1_Missense_Mutation_p.S251F|MEN1_ENST00000312049.6_Missense_Mutation_p.S246F|MEN1_ENST00000377321.1_Missense_Mutation_p.S211F|MEN1_ENST00000443283.1_Missense_Mutation_p.S251F	p.S251F	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			4	1255	-			251			Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.752C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892018	0.91889	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99660	-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32;-6.32	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.78314	0.968;0.991;0.981	D	0.98395	1.0565	10	0.87932	D	0	-36.2093	15.7433	0.77920	0.0:0.0:1.0:0.0	.	246;211;251	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	F	246;211;246;246;246;251;251;251;251;251;246;246;246	ENSP00000366533:S246F;ENSP00000366538:S211F;ENSP00000366543:S246F;ENSP00000308975:S246F;ENSP00000323747:S246F;ENSP00000337088:S251F;ENSP00000377901:S251F;ENSP00000377899:S251F;ENSP00000396940:S251F;ENSP00000366530:S251F;ENSP00000413944:S246F;ENSP00000394933:S246F;ENSP00000411218:S246F	ENSP00000308975:S246F	S	-	2	0	MEN1	64331646	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.568000	0.90741	2.386000	0.81285	0.462000	0.41574	TCC		0.577	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			26	78	0	0	0	1	0	26	78				
GAN	8139	broad.mit.edu	37	16	81348783	81348783	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348783C>G	ENST00000568107.2	+	1	227	c.65C>G	c.(64-66)tCt>tGt	p.S22C	RP11-55K13.1_ENST00000570148.1_RNA	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	22					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCGCTCAGCTCTTTCCGCGAG	0.701																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(64-66)tCt>tGt		gigaxonin							12.0	12.0	12.0					16																	81348783		2183	4286	6469	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81348783C>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.65C>G	16.37:g.81348783C>G	ENSP00000476795:p.Ser22Cys						p.S22C	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			1	227	+		Colorectal(91;0.153)	22						Missense_Mutation	SNP	ENST00000568107.2	37	c.65C>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.344575	0.82022	.	.	ENSG00000127688	ENST00000248272	T	0.69306	-0.39	4.16	4.16	0.48862	BTB/POZ (1);BTB/POZ fold (2);	0.149133	0.46145	D	0.000315	T	0.63745	0.2537	L	0.49350	1.555	0.58432	D	0.999999	B	0.30021	0.265	B	0.32022	0.139	T	0.68507	-0.5390	10	0.66056	D	0.02	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	22	Q9H2C0	GAN_HUMAN	C	22	ENSP00000248272:S22C	ENSP00000248272:S22C	S	+	2	0	GAN	79906284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.773000	0.75006	2.133000	0.65898	0.454000	0.30748	TCT		0.701	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			5	14	0	0	0	1	0	5	14				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	54	0	0	0	1	0	4	54				
MYSM1	114803	broad.mit.edu	37	1	59131245	59131245	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:59131245C>T	ENST00000472487.1	-	17	2129	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	697					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGGATTATTTCGATTATAGGG	0.333																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2089-2091)cGa>cAa		Myb-like, SWIRM and MPN domains 1							116.0	112.0	113.0					1																	59131245		1832	4076	5908	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59131245C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2090G>A	1.37:g.59131245C>T	ENSP00000418734:p.Arg697Gln					MYSM1_ENST00000493821.1_5'UTR	p.R697Q	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			17	2129	-	all_cancers(7;9.36e-06)		697					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.2090G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126750	0.37533	.	.	ENSG00000162601	ENST00000472487	T	0.63417	-0.04	5.09	3.18	0.36537	.	0.285739	0.34879	N	0.003619	T	0.48714	0.1515	L	0.43152	1.355	0.32333	N	0.560845	B	0.19583	0.037	B	0.08055	0.003	T	0.51172	-0.8739	10	0.32370	T	0.25	-2.6755	7.7041	0.28640	0.0:0.7355:0.0:0.2645	.	697	Q5VVJ2	MYSM1_HUMAN	Q	697	ENSP00000418734:R697Q	ENSP00000418734:R697Q	R	-	2	0	MYSM1	58903833	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.896000	0.48656	0.691000	0.31592	-0.218000	0.12543	CGA		0.333	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		7	65	0	0	0	1	0	7	65				
UNC50	25972	broad.mit.edu	37	2	99226181	99226181	+	Intron	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:99226181C>G	ENST00000357765.2	+	2	148				COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.Q4E|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.Q4E|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)						cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AATGTTTCTTCAGAATACGTG	0.438																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(10-12)Cag>Gag		unc-50 homolog (C. elegans)							142.0	154.0	150.0					2																	99226181		2203	4300	6503	SO:0001627	intron_variant	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226181C>G		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.-4-38C>G	2.37:g.99226181C>G						UNC50_ENST00000409347.1_Missense_Mutation_p.Q4E|UNC50_ENST00000357765.2_Intron	p.Q4E			Q53HI1	UNC50_HUMAN			1	1140	+			0					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.10C>G	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879859	0.33162	.	.	ENSG00000115446	ENST00000409975;ENST00000409347	.	.	.	4.32	-5.19	0.02832	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32955	-0.9887	5	0.39692	T	0.17	.	3.6123	0.08065	0.4593:0.2449:0.2172:0.0785	.	.	.	.	E	4	.	ENSP00000386466:Q4E	Q	+	1	0	UNC50	98592613	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.535000	0.06142	-0.801000	0.04427	0.591000	0.81541	CAG		0.438	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		5	244	0	0	0	1	0	5	244				
NLGN1	22871	broad.mit.edu	37	3	173997144	173997144	+	Silent	SNP	C	C	A	rs369811377		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:173997144C>A	ENST00000457714.1	+	6	1782	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Silent_p.T451T|NLGN1_ENST00000401917.3_Silent_p.T491T|NLGN1_ENST00000545397.1_Silent_p.T451T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	468					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACCCTGAAACCAGAAGAAAGA	0.428																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1351-1353)acC>acA		neuroligin 1							103.0	99.0	100.0					3																	173997144		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997144C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1353C>A	3.37:g.173997144C>A						NLGN1_ENST00000361589.4_Silent_p.T451T|NLGN1_ENST00000401917.3_Silent_p.T491T|NLGN1_ENST00000545397.1_Silent_p.T451T|NLGN1_ENST00000466350.1_3'UTR	p.T451T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1782	+	Ovarian(172;0.0025)		468					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1353C>A	CCDS3222.1																																																																																				0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		36	98	1	0	8.73648e-17	1	9.53071e-17	36	98				
KIF20B	9585	broad.mit.edu	37	10	91532581	91532581	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:91532581G>A	ENST00000371728.3	+	32	5443	c.5378G>A	c.(5377-5379)gGc>gAc	p.G1793D	KIF20B_ENST00000260753.4_Missense_Mutation_p.G1753D|KIF20B_ENST00000416354.1_Missense_Mutation_p.G1823D|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1793	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATATATCAGGCCAAGTGGTA	0.328																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(5467-5469)gGc>gAc		kinesin family member 20B							140.0	139.0	139.0					10																	91532581		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91532581G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5378G>A	10.37:g.91532581G>A	ENSP00000360793:p.Gly1793Asp					KIF20B_ENST00000371728.3_Missense_Mutation_p.G1793D|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.G1753D	p.G1823D			Q96Q89	KI20B_HUMAN			32	5540	+			1793					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.5468G>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.013116	0.75161	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.48522	0.81;0.81;0.81	5.67	5.67	0.87782	.	0.000000	0.46758	D	0.000264	T	0.64692	0.2621	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	T	0.66276	-0.5964	10	0.87932	D	0	-6.2411	14.1822	0.65580	0.0:0.15:0.85:0.0	.	1793;1753	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	D	1753;1823;1793	ENSP00000260753:G1753D;ENSP00000411545:G1823D;ENSP00000360793:G1793D	ENSP00000260753:G1753D	G	+	2	0	KIF20B	91522561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.138000	0.42140	2.679000	0.91253	0.655000	0.94253	GGC		0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		29	118	0	0	0	1	0	29	118				
UBAP2L	9898	broad.mit.edu	37	1	154239020	154239020	+	Silent	SNP	G	G	A	rs377262072		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:154239020G>A	ENST00000361546.2	+	24	2988	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	UBAP2L_ENST00000271877.7_Silent_p.S993S|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000428931.1_Silent_p.S982S			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	982					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGATATCTCGGGTTCTGTGT	0.498																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(2944-2946)tcG>tcA		ubiquitin associated protein 2-like		G		0,4406		0,0,2203	236.0	226.0	229.0		2946	4.0	1.0	1		229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBAP2L	NM_014847.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		982/1088	154239020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154239020G>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2946G>A	1.37:g.154239020G>A						UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Silent_p.S993S|UBAP2L_ENST00000361546.2_Silent_p.S982S	p.S982S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	3113	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		982					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.2946G>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142015	0.21205	0.0	1.16E-4	ENSG00000143569	ENST00000433615;ENST00000428595	.	.	.	4.96	4.02	0.46733	.	.	.	.	.	T	0.57301	0.2044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58411	-0.7641	4	.	.	.	-0.9503	12.9473	0.58379	0.0:0.3118:0.6882:0.0	.	.	.	.	R	313;261	.	.	G	+	1	0	UBAP2L	152505644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.702000	0.25631	1.260000	0.44134	0.655000	0.94253	GGG		0.498	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		5	362	0	0	0	1	0	5	362				
IKBKAP	8518	broad.mit.edu	37	9	111656254	111656254	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:111656254A>T	ENST00000374647.5	-	26	3136	c.2829T>A	c.(2827-2829)taT>taA	p.Y943*	IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.Y594*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	943					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGCTTTTTCATATCGTTTCA	0.333																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2827-2829)taT>taA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							174.0	164.0	167.0					9																	111656254		2203	4300	6503	SO:0001587	stop_gained	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111656254A>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2829T>A	9.37:g.111656254A>T	ENSP00000363779:p.Tyr943*					IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.Y594*	p.Y943*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			26	3136	-			943					Q5JSV2|Q9H327|Q9UG87	Nonsense_Mutation	SNP	ENST00000374647.5	37	c.2829T>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	A	44	10.645640	0.99443	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.8	5.8	0.92144	.	0.059335	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7224	8.6019	0.33749	0.9151:0.0:0.0849:0.0	.	.	.	.	X	943;594	.	ENSP00000363779:Y943X	Y	-	3	2	IKBKAP	110696075	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.078000	0.64425	2.221000	0.72209	0.477000	0.44152	TAT		0.333	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			5	37	0	0	0	1	0	5	37				
RBM47	54502	broad.mit.edu	37	4	40428064	40428064	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:40428064G>A	ENST00000381793.2	-	6	2035	c.1639C>T	c.(1639-1641)Cca>Tca	p.P547S	RBM47_ENST00000295971.7_Missense_Mutation_p.P547S|RBM47_ENST00000381795.6_Missense_Mutation_p.P478S|RBM47_ENST00000319592.4_Missense_Mutation_p.P478S|RBM47_ENST00000514014.1_Missense_Mutation_p.P509S|RP11-588L15.2_ENST00000514187.1_RNA			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	547	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTGTAGCTGGAGCAGCAAAT	0.587																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1432-1434)Cca>Tca		RNA binding motif protein 47							84.0	74.0	78.0					4																	40428064		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40428064G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1639C>T	4.37:g.40428064G>A	ENSP00000371212:p.Pro547Ser					RBM47_ENST00000295971.7_Missense_Mutation_p.P547S|RBM47_ENST00000381795.6_Missense_Mutation_p.P478S|RBM47_ENST00000381793.2_Missense_Mutation_p.P547S|RBM47_ENST00000514014.1_Missense_Mutation_p.P509S	p.P478S			A0AV96	RBM47_HUMAN			6	2141	-			547					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1432C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765586	0.49574	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.17691	2.26;2.35;2.26;2.35;2.38	6.04	6.04	0.98038	.	0.276238	0.41605	D	0.000852	T	0.17408	0.0418	N	0.24115	0.695	0.51482	D	0.999923	P;P	0.45827	0.867;0.483	B;B	0.42282	0.382;0.084	T	0.00724	-1.1593	10	0.62326	D	0.03	-16.6084	20.5792	0.99380	0.0:0.0:1.0:0.0	.	478;547	A0AV96-2;A0AV96	.;RBM47_HUMAN	S	478;547;478;547;509	ENSP00000320108:P478S;ENSP00000371212:P547S;ENSP00000371214:P478S;ENSP00000295971:P547S;ENSP00000423243:P509S	ENSP00000295971:P547S	P	-	1	0	RBM47	40122821	1.000000	0.71417	0.682000	0.30024	0.433000	0.31745	5.843000	0.69424	2.873000	0.98535	0.561000	0.74099	CCA		0.587	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		20	61	0	0	0	1	0	20	61				
DNAH2	146754	broad.mit.edu	37	17	7710627	7710627	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7710627G>A	ENST00000572933.1	+	62	11062	c.9602G>A	c.(9601-9603)cGg>cAg	p.R3201Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3201Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3201	Stalk. {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)				ATGTGGGTGCGGGCCATGGAG	0.657																																						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.(9601-9603)cGg>cAg		dynein, axonemal, heavy chain 2							56.0	59.0	58.0					17																	7710627		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.chr17:7710627G>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.9602G>A	17.37:g.7710627G>A	ENSP00000458355:p.Arg3201Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.R3201Q	p.R3201Q			Q9P225	DYH2_HUMAN			62	11062	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3201			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9602G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.442639	0.83993	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74106	-0.81	5.28	4.32	0.51571	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.88640	2.97	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64144	0.819;0.922	D	0.84341	0.0527	10	0.10902	T	0.67	.	13.18	0.59649	0.0789:0.0:0.9211:0.0	.	3162;3201	Q9P225-2;Q9P225	.;DYH2_HUMAN	Q	3162;3201	ENSP00000373825:R3201Q	ENSP00000353818:R3162Q	R	+	2	0	DNAH2	7651352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.678000	0.91211	1.391000	0.46566	-0.243000	0.11985	CGG		0.657	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	156	0	0	0	1	0	4	156				
SP100	6672	broad.mit.edu	37	2	231380190	231380190	+	Silent	SNP	G	G	C	rs371349702		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231380190G>C	ENST00000264052.5	+	25	2830	c.2475G>C	c.(2473-2475)ctG>ctC	p.L825L	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	825					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ctgcaaagctgaaggaaaaat	0.408																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2473-2475)ctG>ctC		SP100 nuclear antigen							28.0	29.0	28.0					2																	231380190		2203	4300	6503	SO:0001819	synonymous_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380190G>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2475G>C	2.37:g.231380190G>C						SP100_ENST00000340126.4_Intron	p.L825L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2830	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	825					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	c.2475G>C	CCDS2477.1																																																																																				0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		21	26	0	0	0	1	0	21	26				
TEAD1	7003	broad.mit.edu	37	11	12785897	12785897	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:12785897G>A	ENST00000527575.1	+	2	231	c.118G>A	c.(118-120)Gag>Aag	p.E40K	TEAD1_ENST00000334310.6_Missense_Mutation_p.E25K|TEAD1_ENST00000361905.4_Missense_Mutation_p.E25K|TEAD1_ENST00000361985.2_Missense_Mutation_p.E40K|TEAD1_ENST00000527636.1_Missense_Mutation_p.E40K			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	40					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCCGACATCGAGCAAAGCTT	0.512																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(73-75)Gag>Aag		TEA domain family member 1 (SV40 transcriptional enhancer factor)							88.0	90.0	89.0					11																	12785897		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12785897G>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.118G>A	11.37:g.12785897G>A	ENSP00000435977:p.Glu40Lys					TEAD1_ENST00000334310.6_Missense_Mutation_p.E25K|TEAD1_ENST00000361985.2_Missense_Mutation_p.E40K|TEAD1_ENST00000527575.1_Missense_Mutation_p.E40K|TEAD1_ENST00000527636.1_Missense_Mutation_p.E40K	p.E25K	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	738	+			40					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.633895	0.96682	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527376;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	M	0.93197	3.39	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.87793	0.2620	10	0.87932	D	0	-9.398	19.6863	0.95981	0.0:0.0:1.0:0.0	.	40	P28347	TEAD1_HUMAN	K	25;40;40;40;25;40	ENSP00000355332:E25K;ENSP00000435233:E40K;ENSP00000432587:E40K;ENSP00000435977:E40K;ENSP00000334754:E25K;ENSP00000354588:E40K	ENSP00000334754:E25K	E	+	1	0	TEAD1	12742473	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	GAG		0.512	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		33	80	0	0	0	1	0	33	80				
GSTK1	373156	broad.mit.edu	37	7	142964718	142964718	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142964718G>A	ENST00000358406.5	+	6	500	c.429G>A	c.(427-429)gaG>gaA	p.E143E	GSTK1_ENST00000479303.1_Silent_p.E199E|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Silent_p.E100E|GSTK1_ENST00000409500.3_Silent_p.E131E	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	143					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGGCTGCAGAGAAGGCTGGTA	0.493																																						ENST00000479303.1																			0				lung(4)	4						c.(595-597)gaG>gaA		glutathione S-transferase kappa 1	Glutathione(DB00143)						114.0	110.0	111.0					7																	142964718		2203	4300	6503	SO:0001819	synonymous_variant	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142964718G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.429G>A	7.37:g.142964718G>A						GSTK1_ENST00000358406.5_Silent_p.E143E|GSTK1_ENST00000443571.2_Silent_p.E100E|GSTK1_ENST00000409500.3_Silent_p.E131E|AC073342.12_ENST00000427392.1_RNA	p.E199E	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN			5	655	+	Melanoma(164;0.059)		143					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Silent	SNP	ENST00000358406.5	37	c.597G>A	CCDS5877.1																																																																																				0.493	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		25	114	0	0	0	1	0	25	114				
MORC1	27136	broad.mit.edu	37	3	108773716	108773716	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:108773716C>T	ENST00000483760.1	-	14	1232	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	MORC1_ENST00000232603.5_Missense_Mutation_p.V397M					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTCCAACCACGCCTGCGCCA	0.308																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1189-1191)Gtg>Atg		MORC family CW-type zinc finger 1							94.0	89.0	90.0					3																	108773716		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773716C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1189G>A	3.37:g.108773716C>T	ENSP00000417282:p.Val397Met					MORC1_ENST00000483760.1_Missense_Mutation_p.V397M	p.V397M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1271	-			397						Missense_Mutation	SNP	ENST00000483760.1	37	c.1189G>A		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555563	0.65425	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.12361	2.7;2.69	5.0	4.12	0.48240	.	0.376195	0.19989	N	0.101603	T	0.36853	0.0982	M	0.81179	2.53	0.38217	D	0.940657	D;D	0.89917	1.0;1.0	P;D	0.69654	0.859;0.965	T	0.41251	-0.9519	10	0.87932	D	0	-10.2957	11.6242	0.51136	0.0:0.9122:0.0:0.0878	.	397;397	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	397	ENSP00000232603:V397M;ENSP00000417282:V397M	ENSP00000232603:V397M	V	-	1	0	MORC1	110256406	0.998000	0.40836	0.830000	0.32933	0.876000	0.50452	3.991000	0.56973	1.298000	0.44778	0.650000	0.86243	GTG		0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			5	44	0	0	0	1	0	5	44				
RNF20	56254	broad.mit.edu	37	9	104324544	104324544	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:104324544C>T	ENST00000389120.3	+	20	2858	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	923					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTGACCTGTCCGTGCTGTAAC	0.418																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2767-2769)cCg>cTg		ring finger protein 20, E3 ubiquitin protein ligase							155.0	141.0	146.0					9																	104324544		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104324544C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2768C>T	9.37:g.104324544C>T	ENSP00000373772:p.Pro923Leu						p.P923L	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	20	2858	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	923					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2768C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329090	0.81690	.	.	ENSG00000155827	ENST00000389120	D	0.87029	-2.2	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.93953	0.7233	10	0.62326	D	0.03	-15.792	20.1777	0.98189	0.0:1.0:0.0:0.0	.	923	Q5VTR2	BRE1A_HUMAN	L	923	ENSP00000373772:P923L	ENSP00000373772:P923L	P	+	2	0	RNF20	103364365	1.000000	0.71417	0.985000	0.45067	0.752000	0.42762	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	CCG		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		29	62	0	0	0	1	0	29	62				
SYNCRIP	10492	broad.mit.edu	37	6	86333818	86333818	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:86333818C>T	ENST00000369622.3	-	7	1179	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.E227K	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	227	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAACGAATTTCATGATTATTA	0.333																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(679-681)Gaa>Aaa		synaptotagmin binding, cytoplasmic RNA interacting protein							74.0	72.0	73.0					6																	86333818		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86333818C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.679G>A	6.37:g.86333818C>T	ENSP00000358635:p.Glu227Lys					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E227K	p.E227K	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	7	885	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	227			RRM 1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.679G>A	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644488	0.96704	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.15718	2.4;2.4	5.75	5.75	0.90469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	L	0.49513	1.565	0.80722	D	1	P;D;D;P;P;P;P	0.60575	0.901;0.985;0.988;0.76;0.938;0.88;0.901	P;P;P;B;P;P;P	0.61722	0.708;0.828;0.893;0.381;0.73;0.583;0.708	T	0.00733	-1.1589	10	0.62326	D	0.03	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	227;227;129;75;227;227;227	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	K	227	ENSP00000347380:E227K;ENSP00000358635:E227K	ENSP00000347380:E227K	E	-	1	0	SYNCRIP	86390537	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.720000	0.93068	0.557000	0.71058	GAA		0.333	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		4	54	0	0	0	1	0	4	54				
SCARB2	950	broad.mit.edu	37	4	77096978	77096978	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:77096978C>T	ENST00000264896.2	-	6	1139	c.790G>A	c.(790-792)Gag>Aag	p.E264K	SCARB2_ENST00000452464.2_Missense_Mutation_p.E121K	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	264					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAAAGGACCTCATCTTTGGTT	0.363																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(790-792)Gag>Aag		scavenger receptor class B, member 2							105.0	100.0	102.0					4																	77096978		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77096978C>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.790G>A	4.37:g.77096978C>T	ENSP00000264896:p.Glu264Lys					SCARB2_ENST00000452464.2_Missense_Mutation_p.E121K	p.E264K	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		6	1139	-			264					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.790G>A	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261888	0.95368	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.72615	-0.67;-0.67	5.34	5.34	0.76211	.	0.088700	0.85682	D	0.000000	D	0.82453	0.5040	M	0.67397	2.05	0.58432	D	0.999997	D;D	0.76494	0.994;0.999	D;D	0.77557	0.974;0.99	T	0.80289	-0.1445	10	0.32370	T	0.25	.	17.8829	0.88845	0.0:1.0:0.0:0.0	.	121;264	E7EM68;Q14108	.;SCRB2_HUMAN	K	264;121	ENSP00000264896:E264K;ENSP00000399154:E121K	ENSP00000264896:E264K	E	-	1	0	SCARB2	77316002	1.000000	0.71417	0.806000	0.32338	0.932000	0.56968	7.245000	0.78237	2.509000	0.84616	0.556000	0.70494	GAG		0.363	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		15	37	0	0	0	1	0	15	37				
LNPEP	4012	broad.mit.edu	37	5	96320874	96320874	+	Silent	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:96320874C>A	ENST00000231368.5	+	3	1643	c.951C>A	c.(949-951)atC>atA	p.I317I	LNPEP_ENST00000395770.3_Silent_p.I303I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	317					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTTTATCATCAAGATCATAA	0.373																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(949-951)atC>atA		leucyl/cystinyl aminopeptidase							152.0	146.0	148.0					5																	96320874		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96320874C>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.951C>A	5.37:g.96320874C>A						LNPEP_ENST00000395770.3_Silent_p.I303I	p.I317I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	3	1643	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	317					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.951C>A	CCDS4087.1																																																																																				0.373	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		11	77	1	0	0.000673444	1	0.000688409	11	77				
OTOF	9381	broad.mit.edu	37	2	26702488	26702488	+	Missense_Mutation	SNP	C	C	T	rs562267762		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:26702488C>T	ENST00000272371.2	-	17	2072	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R649Q|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000402415.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	649					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTGGGGCCGGGACAGGCC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19182	0.0		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1945-1947)cGg>cAg		otoferlin							30.0	35.0	33.0					2																	26702488		2200	4298	6498	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26702488C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1946G>A	2.37:g.26702488C>T	ENSP00000272371:p.Arg649Gln					OTOF_ENST00000403946.3_Missense_Mutation_p.R649Q	p.R649Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			17	2072	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		649					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1946G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413462	0.25465	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80033	-1.33;-1.33	4.63	4.63	0.57726	.	0.000000	0.22632	U	0.057570	T	0.62539	0.2436	N	0.22421	0.69	0.32604	N	0.525553	B	0.25743	0.133	B	0.14023	0.01	T	0.61387	-0.7073	10	0.16420	T	0.52	-10.3647	6.4298	0.21790	0.0:0.7591:0.0:0.2409	.	649	Q9HC10	OTOF_HUMAN	Q	649	ENSP00000272371:R649Q;ENSP00000385255:R649Q	ENSP00000272371:R649Q	R	-	2	0	OTOF	26555992	0.624000	0.27102	0.027000	0.17364	0.036000	0.12997	2.949000	0.49074	2.093000	0.63338	0.561000	0.74099	CGG		0.637	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			18	52	0	0	0	1	0	18	52				
PARP2	10038	broad.mit.edu	37	14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:20824776G>A	ENST00000250416.5	+	13	1323	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000429687.3_Missense_Mutation_p.M419I|PARP2_ENST00000527915.1_Missense_Mutation_p.M432I	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1294-1296)atG>atA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							290.0	278.0	282.0					14																	20824776		1938	4141	6079	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824776G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1296G>A	14.37:g.20824776G>A	ENSP00000250416:p.Met432Ile					PARP2_ENST00000250416.5_Missense_Mutation_p.M432I|PARP2_ENST00000429687.3_Missense_Mutation_p.M419I	p.M432I			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	13	1301	+	all_cancers(95;0.00092)	all_lung(585;0.235)	432			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1296G>A	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846943|1.846943	0.32606|0.32606	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000539930|ENST00000429687;ENST00000250416;ENST00000527915	.|T;T;T	.|0.12984	.|2.63;2.63;2.63	5.43|5.43	2.54|2.54	0.30619|0.30619	.|Poly(ADP-ribose) polymerase, catalytic domain (2);	.|0.082223	.|0.50627	.|D	.|0.000115	T|T	0.03095|0.03095	0.0091|0.0091	N|N	0.00729|0.00729	-1.24|-1.24	0.22701|0.22701	N|N	0.998833|0.998833	.|B;B;B	.|0.23990	.|0.095;0.001;0.006	.|B;B;B	.|0.19946	.|0.027;0.0;0.006	T|T	0.40194|0.40194	-0.9576|-0.9576	5|10	.|0.21540	.|T	.|0.41	-4.9925|-4.9925	5.2436|5.2436	0.15485|0.15485	0.2278:0.0:0.6186:0.1536|0.2278:0.0:0.6186:0.1536	.|.	.|345;419;432	.|B4DV82;Q9UGN5-2;Q9UGN5	.|.;.;PARP2_HUMAN	K|I	109|419;432;432	.|ENSP00000392972:M419I;ENSP00000250416:M432I;ENSP00000432283:M432I	.|ENSP00000250416:M432I	E|M	+|+	1|3	0|0	PARP2|PARP2	19894616|19894616	0.949000|0.949000	0.32298|0.32298	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	0.153000|0.153000	0.16323|0.16323	0.830000|0.830000	0.34757|0.34757	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			33	308	0	0	0	1	0	33	308				
TRIM65	201292	broad.mit.edu	37	17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:73887344C>T	ENST00000269383.3	-	6	1135	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1069-1071)cGt>cAt		tripartite motif containing 65							23.0	26.0	25.0					17																	73887344		2184	4237	6421	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73887344C>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1070G>A	17.37:g.73887344C>T	ENSP00000269383:p.Arg357His						p.R357H	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1135	-			357			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.1070G>A	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.840|0.840	-0.742236|-0.742236	0.03088|0.03088	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.58060|.	0.36|.	5.01|5.01	-5.75|-5.75	0.02384|0.02384	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	1.529570|.	0.04124|.	N|.	0.316712|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.28530|.	T|.	0.3|.	.|.	3.8188|3.8188	0.08827|0.08827	0.5258:0.2247:0.0839:0.1655|0.5258:0.2247:0.0839:0.1655	.|.	357|.	Q6PJ69|.	TRI65_HUMAN|.	H|I	357|209	ENSP00000269383:R357H|.	ENSP00000269383:R357H|.	R|V	-|-	2|1	0|0	TRIM65|TRIM65	71398939|71398939	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-1.993000|-1.993000	0.01475|0.01475	-0.710000|-0.710000	0.05001|0.05001	-0.127000|-0.127000	0.14921|0.14921	CGT|GTC		0.627	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		5	73	0	0	0	1	0	5	73				
KPNA4	3840	broad.mit.edu	37	3	160253595	160253595	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:160253595C>T	ENST00000334256.4	-	3	510		c.e3+1			NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAATGACTTACCACTCTATAA	0.294																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.e3+1		karyopherin alpha 4 (importin alpha 3)							71.0	70.0	70.0					3																	160253595		2201	4290	6491	SO:0001630	splice_region_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160253595C>T	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.204+1G>A	3.37:g.160253595C>T								NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	510	-								A8K4S6|D3DNM2|O00190	Splice_Site	SNP	ENST00000334256.4	37		CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416507	0.83449	.	.	ENSG00000186432	ENST00000334256	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6612	0.88193	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KPNA4	161736289	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.579000	0.82511	2.414000	0.81942	0.484000	0.47621	.		0.294	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	Intron	6	30	0	0	0	1	0	6	30				
KRT24	192666	broad.mit.edu	37	17	38855809	38855809	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:38855809C>G	ENST00000264651.2	-	6	1304	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	416	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCCCAGATCTGGCAGATCT	0.572																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1246-1248)caG>caC		keratin 24							154.0	149.0	151.0					17																	38855809		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855809C>G		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1248G>C	17.37:g.38855809C>G	ENSP00000264651:p.Gln416His						p.Q416H	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			6	1304	-		Breast(137;0.00526)	416			Coil 2.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1248G>C	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204627	0.58234	.	.	ENSG00000167916	ENST00000264651	D	0.89415	-2.51	5.62	4.64	0.57946	Filament (1);	.	.	.	.	D	0.93200	0.7834	M	0.82823	2.61	0.44652	D	0.99763	D	0.58970	0.984	D	0.64237	0.923	D	0.93226	0.6613	9	0.87932	D	0	.	9.4665	0.38816	0.0:0.7904:0.0:0.2096	.	416	Q2M2I5	K1C24_HUMAN	H	416	ENSP00000264651:Q416H	ENSP00000264651:Q416H	Q	-	3	2	KRT24	36109335	0.154000	0.22792	0.981000	0.43875	0.761000	0.43186	0.721000	0.25911	2.640000	0.89533	0.591000	0.81541	CAG		0.572	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		57	140	0	0	0	1	0	57	140				
SMG8	55181	broad.mit.edu	37	17	57290741	57290741	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:57290741G>C	ENST00000543872.2	+	4	2821	c.2557G>C	c.(2557-2559)Gac>Cac	p.D853H	SMG8_ENST00000300917.5_Missense_Mutation_p.D853H|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	853					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGAATATGAAGACTCTCGAGG	0.448																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2557-2559)Gac>Cac		SMG8 nonsense mediated mRNA decay factor							157.0	155.0	156.0					17																	57290741		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290741G>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2557G>C	17.37:g.57290741G>C	ENSP00000438748:p.Asp853His					SMG8_ENST00000300917.5_Missense_Mutation_p.D853H|CTD-2510F5.6_ENST00000577660.1_Intron	p.D853H			Q8ND04	SMG8_HUMAN			4	2821	+			853					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2557G>C	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824605	0.71143	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.50001	0.76;0.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61058	-0.7139	10	0.42905	T	0.14	-18.9574	19.1378	0.93435	0.0:0.0:1.0:0.0	.	853	Q8ND04	SMG8_HUMAN	H	853	ENSP00000300917:D853H;ENSP00000438748:D853H	ENSP00000300917:D853H	D	+	1	0	SMG8	54645523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GAC		0.448	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		21	139	0	0	0	1	0	21	139				
PLEC	5339	broad.mit.edu	37	8	144996545	144996545	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:144996545C>T	ENST00000322810.4	-	32	8024	c.7855G>A	c.(7855-7857)Gag>Aag	p.E2619K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2450K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2509K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2505K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2482K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2482K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2486K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2460K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2468K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2619	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2619*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTGCTCCTGCTGCACC	0.627																																						ENST00000322810.4																			1	Substitution - Nonsense(1)	p.E2619*(1)	skin(1)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7855-7857)Gag>Aag		plectin							29.0	34.0	33.0					8																	144996545		2018	4158	6176	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996545C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7855G>A	8.37:g.144996545C>T	ENSP00000323856:p.Glu2619Lys					PLEC_ENST00000354589.3_Missense_Mutation_p.E2482K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2468K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2482K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2505K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2450K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2486K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2509K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2460K	p.E2619K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8024	-			2619			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7855G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.520	0.280810	0.10458	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78003	-1.11;-1.11;-1.14;-1.14;-1.12;-1.1;-1.1;-1.11;-1.11	4.39	4.39	0.52855	.	0.180777	0.33235	U	0.005134	T	0.69387	0.3105	L	0.37630	1.12	0.38370	D	0.944858	B;B;B;B;B;B;B;B	0.28350	0.208;0.208;0.208;0.132;0.208;0.208;0.208;0.208	B;B;B;B;B;B;B;B	0.22152	0.038;0.038;0.038;0.017;0.038;0.038;0.038;0.038	T	0.71988	-0.4426	10	0.46703	T	0.11	.	16.741	0.85459	0.0:1.0:0.0:0.0	.	2509;2468;2460;2619;2450;2482;2486;2482	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2482;2486;2482;2450;2619;2460;2468;2509;2505	ENSP00000344848:E2482K;ENSP00000350277:E2486K;ENSP00000346602:E2482K;ENSP00000381756:E2450K;ENSP00000323856:E2619K;ENSP00000347044:E2460K;ENSP00000348702:E2468K;ENSP00000388180:E2509K;ENSP00000434583:E2505K	ENSP00000323856:E2619K	E	-	1	0	PLEC	145068533	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	4.540000	0.60664	2.292000	0.77174	0.448000	0.29417	GAG		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	84	0	0	0	1	0	14	84				
EPHA7	2045	broad.mit.edu	37	6	93969138	93969138	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:93969138C>T	ENST00000369303.4	-	10	2042	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	620					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATGGACAGCTCTATTTGGG	0.438																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1858-1860)Gct>Act		EPH receptor A7							221.0	198.0	206.0					6																	93969138		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93969138C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1858G>A	6.37:g.93969138C>T	ENSP00000358309:p.Ala620Thr						p.A620T	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	10	2042	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	620					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1858G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114736	0.77210	.	.	ENSG00000135333	ENST00000369303	T	0.27557	1.66	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	D;D;D	0.87578	0.951;0.998;0.995	T	0.71210	-0.4660	10	0.72032	D	0.01	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	616;615;620	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	T	620	ENSP00000358309:A620T	ENSP00000358309:A620T	A	-	1	0	EPHA7	94025859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GCT		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			27	55	0	0	0	1	0	27	55				
FBN2	2201	broad.mit.edu	37	5	127648348	127648348	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:127648348C>T	ENST00000508053.1	-	43	5831	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E	FBN2_ENST00000262464.4_Silent_p.E1619E			P35556	FBN2_HUMAN	fibrillin 2	1619	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGCATGTCTCACAGGGGT	0.512																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4855-4857)gaG>gaA		fibrillin 2							208.0	224.0	218.0					5																	127648348		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648348C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4857G>A	5.37:g.127648348C>T						FBN2_ENST00000262464.4_Silent_p.E1619E	p.E1619E			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5831	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1619			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4857G>A	CCDS34222.1																																																																																				0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	371	0	0	0	1	0	5	371				
OSBPL9	114883	broad.mit.edu	37	1	52248291	52248291	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:52248291G>C	ENST00000428468.1	+	17	1491	c.1489G>C	c.(1489-1491)Gag>Cag	p.E497Q	OSBPL9_ENST00000371710.3_Missense_Mutation_p.E515Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E484Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E502Q|OSBPL9_ENST00000462759.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E507Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E416Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E332Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E332Q|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E480Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E387Q			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	497					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTTGTGGCTGAGCAGGTTTC	0.413																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1543-1545)Gag>Cag		oxysterol binding protein-like 9							66.0	61.0	63.0					1																	52248291		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52248291G>C	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1489G>C	1.37:g.52248291G>C	ENSP00000407168:p.Glu497Gln					OSBPL9_ENST00000462759.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E480Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E507Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E332Q|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E497Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E416Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E484Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E502Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E319Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E387Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E332Q	p.E515Q	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			17	1725	+			497					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1543G>C	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804053	0.90623	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	4.27	4.27	0.50696	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.988;0.996;0.996;0.996;0.993	D	0.98911	1.0780	10	0.87932	D	0	-13.7298	17.2395	0.87009	0.0:0.0:1.0:0.0	.	480;387;513;497;502	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	Q	484;515;502;507;332;497;480;416;332;387;319;319	ENSP00000360779:E484Q;ENSP00000360775:E515Q;ENSP00000337265:E502Q;ENSP00000412733:E507Q;ENSP00000402646:E332Q;ENSP00000407168:E497Q;ENSP00000413263:E480Q;ENSP00000433675:E416Q;ENSP00000433083:E332Q;ENSP00000354970:E387Q;ENSP00000433279:E319Q;ENSP00000431980:E319Q	ENSP00000337265:E502Q	E	+	1	0	OSBPL9	52020879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.589000	0.98235	2.356000	0.79943	0.655000	0.94253	GAG		0.413	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			8	44	0	0	0	1	0	8	44				
RANBP17	64901	broad.mit.edu	37	5	170720931	170720931	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:170720931G>A	ENST00000523189.1	+	26	3152	c.2988G>A	c.(2986-2988)cgG>cgA	p.R996R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	996					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGACTGTCGGAACCAGTGGT	0.493			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2986-2988)cgG>cgA		RAN binding protein 17							217.0	207.0	210.0					5																	170720931		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170720931G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2988G>A	5.37:g.170720931G>A						RANBP17_ENST00000521759.1_3'UTR	p.R996R	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		26	3152	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	996					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2988G>A	CCDS34287.1																																																																																				0.493	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		29	103	0	0	0	1	0	29	103				
PSG11	5680	broad.mit.edu	37	19	43523178	43523178	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:43523178G>C	ENST00000401740.1	-	3	556	c.453C>G	c.(451-453)atC>atG	p.I151M	PSG11_ENST00000403486.1_Missense_Mutation_p.I29M|PSG11_ENST00000320078.7_Missense_Mutation_p.I151M|PSG11_ENST00000306322.7_Missense_Mutation_p.I29M|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	151	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGCT	0.507																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(451-453)atC>atG		pregnancy specific beta-1-glycoprotein 11							159.0	166.0	164.0					19																	43523178		2199	4297	6496	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523178G>C	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.453C>G	19.37:g.43523178G>C	ENSP00000384995:p.Ile151Met					PSG11_ENST00000403486.1_Missense_Mutation_p.I29M|PSG11_ENST00000320078.7_Missense_Mutation_p.I151M|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.I29M	p.I151M			Q9UQ72	PSG11_HUMAN			3	556	-		Prostate(69;0.00682)	151			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.453C>G	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	10.53	1.375310	0.24857	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.01034	5.42;5.42;5.42;5.42	1.13	-0.0168	0.13970	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04227	0.0117	M	0.84585	2.705	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.97110	0.996;1.0	T	0.34279	-0.9835	9	0.87932	D	0	.	2.9657	0.05907	0.3546:0.0:0.6454:0.0	.	29;151	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	M	151;29;29;151	ENSP00000319140:I151M;ENSP00000385427:I29M;ENSP00000304913:I29M;ENSP00000384995:I151M	ENSP00000304913:I29M	I	-	3	3	PSG11	48215018	0.010000	0.17322	0.006000	0.13384	0.131000	0.20780	0.211000	0.17474	0.567000	0.29293	0.184000	0.17185	ATC		0.507	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		84	254	0	0	0	1	0	84	254				
ORC3	23595	broad.mit.edu	37	6	88331187	88331187	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:88331187G>A	ENST00000392844.3	+	10	1151	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	ORC3_ENST00000257789.4_Missense_Mutation_p.R368H|ORC3_ENST00000546266.1_Missense_Mutation_p.R225H|ORC3_ENST00000417380.2_Missense_Mutation_p.R315H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	368					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AACATCCGACGTCTACCATCT	0.333																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1102-1104)cGt>cAt		origin recognition complex, subunit 3							50.0	50.0	50.0					6																	88331187		2202	4298	6500	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88331187G>A	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1103G>A	6.37:g.88331187G>A	ENSP00000376586:p.Arg368His					ORC3_ENST00000546266.1_Missense_Mutation_p.R225H|ORC3_ENST00000257789.4_Missense_Mutation_p.R368H|ORC3_ENST00000417380.2_Missense_Mutation_p.R315H	p.R368H	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			10	1151	+			368					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1103G>A	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725585	0.30593	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.12465	3.1;3.1;2.74;2.68	5.41	5.41	0.78517	.	0.238794	0.43579	D	0.000543	T	0.05456	0.0144	L	0.37561	1.115	0.42790	D	0.993897	B;B;B;B;B	0.28324	0.076;0.132;0.076;0.132;0.207	B;B;B;B;B	0.22601	0.018;0.018;0.013;0.018;0.04	T	0.18840	-1.0324	10	0.35671	T	0.21	.	12.8697	0.57958	0.0749:0.0:0.9251:0.0	.	368;368;306;368;368	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	H	368;368;225;315	ENSP00000376586:R368H;ENSP00000257789:R368H;ENSP00000444695:R225H;ENSP00000390176:R315H	ENSP00000257789:R368H	R	+	2	0	ORC3	88387906	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	2.780000	0.47742	2.691000	0.91804	0.655000	0.94253	CGT		0.333	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			13	33	0	0	0	1	0	13	33				
PPP2R1B	5519	broad.mit.edu	37	11	111624280	111624280	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111624280G>C	ENST00000527614.1	-	9	1116	c.1051C>G	c.(1051-1053)Caa>Gaa	p.Q351E	PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.Q224E|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.Q287E|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.Q190E|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.Q351E	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	351					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTGACATGTTGATTGGTATCG	0.338																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1051-1053)Caa>Gaa		protein phosphatase 2, regulatory subunit A, beta							87.0	84.0	85.0					11																	111624280		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111624280G>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1051C>G	11.37:g.111624280G>C	ENSP00000437193:p.Gln351Glu					PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.Q224E|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.Q351E|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.Q287E|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.Q190E	p.Q351E	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	9	1116	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	351					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1051C>G	CCDS8349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.170115|3.170115	0.57584|0.57584	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000393055|ENST00000531890	T;T;T;T;T|.	0.28454|.	1.61;1.61;1.61;1.61;1.61|.	5.88|5.88	4.91|4.91	0.64330|0.64330	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.052096|.	0.85682|.	D|.	0.000000|.	T|.	0.61502|.	0.2352|.	L|L	0.47716|0.47716	1.5|1.5	0.49687|0.49687	D|D	0.999816|0.999816	B;B;B;B;B|.	0.10296|.	0.003;0.0;0.003;0.0;0.002|.	B;B;B;B;B|.	0.14023|.	0.006;0.001;0.002;0.001;0.01|.	T|.	0.56649|.	-0.7944|.	10|.	0.30854|.	T|.	0.27|.	-12.3143|-12.3143	14.2097|14.2097	0.65756|0.65756	0.0:0.1505:0.8495:0.0|0.0:0.1505:0.8495:0.0	.|.	224;190;287;351;351|.	A8MY67;B7Z1G3;B4DWW5;P30154;P30154-2|.	.;.;.;2AAB_HUMAN;.|.	E|X	351;224;287;351;190;224|51	ENSP00000311344:Q351E;ENSP00000410671:Q287E;ENSP00000437193:Q351E;ENSP00000415759:Q190E;ENSP00000376775:Q224E|.	ENSP00000311344:Q351E|.	Q|S	-|-	1|2	0|0	PPP2R1B|PPP2R1B	111129490|111129490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	7.283000|7.283000	0.78640|0.78640	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.338	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		8	28	0	0	0	1	0	8	28				
CAMSAP2	23271	broad.mit.edu	37	1	200811126	200811126	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:200811126A>C	ENST00000236925.4	+	8	1014	c.965A>C	c.(964-966)aAt>aCt	p.N322T	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.N311T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N311T			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	322	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATATAGAGTAATTATTTGGTG	0.343																																						ENST00000358823.2																			0											c.(931-933)aAt>aCt		calmodulin regulated spectrin-associated protein family, member 2							169.0	164.0	166.0					1																	200811126		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200811126A>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.965A>C	1.37:g.200811126A>C	ENSP00000236925:p.Asn322Thr					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.N322T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N311T	p.N311T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			7	1202	+			322			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.932A>C		.	.	.	.	.	.	.	.	.	.	A	25.6	4.655118	0.88056	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	D;D;D	0.95518	-3.73;-3.73;-3.73	5.58	5.58	0.84498	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.98586	1.0652	10	0.87932	D	0	-35.6991	15.746	0.77944	1.0:0.0:0.0:0.0	.	311;322;311	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	T	311;311;322	ENSP00000351684:N311T;ENSP00000416800:N311T;ENSP00000236925:N322T	ENSP00000236925:N322T	N	+	2	0	CAMSAP1L1	199077749	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.248000	0.95456	2.130000	0.65690	0.477000	0.44152	AAT		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		18	55	0	0	0	1	0	18	55				
GLUD2	2747	broad.mit.edu	37	X	120181976	120181976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:120181976C>A	ENST00000328078.1	+	1	515	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	146					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GCACGCCCTGCAAGGGAGGTA	0.567																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(436-438)tgC>tgA		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						84.0	62.0	69.0					X																	120181976		2203	4300	6503	SO:0001587	stop_gained	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181976C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.438C>A	X.37:g.120181976C>A	ENSP00000327589:p.Cys146*						p.C146*	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	515	+			146					B2R8G0|Q9UDQ4	Nonsense_Mutation	SNP	ENST00000328078.1	37	c.438C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936441	0.92458	.	.	ENSG00000182890	ENST00000328078	.	.	.	1.8	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1461	0.36933	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000327589:C146X	C	+	3	2	GLUD2	120009657	1.000000	0.71417	0.966000	0.40874	0.870000	0.49936	3.351000	0.52232	1.228000	0.43614	0.472000	0.43445	TGC		0.567	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		31	92	1	0	1.13719e-10	1	1.22126e-10	31	92				
ALK	238	broad.mit.edu	37	2	30142880	30142880	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:30142880G>C	ENST00000389048.3	-	1	1552	c.646C>G	c.(646-648)Ctc>Gtc	p.L216V	ALK_ENST00000431873.1_Missense_Mutation_p.L216V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	216					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATCTGGAAGAGAAGGCGGGGC	0.562			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(646-648)Ctc>Gtc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						33.0	41.0	38.0					2																	30142880		2202	4299	6501	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30142880G>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.646C>G	2.37:g.30142880G>C	ENSP00000373700:p.Leu216Val					ALK_ENST00000431873.1_Missense_Mutation_p.L216V	p.L216V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1552	-	Acute lymphoblastic leukemia(172;0.155)		216					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.646C>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466036	0.43839	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.82893	-1.66;2.39	5.23	5.23	0.72850	.	.	.	.	.	T	0.73048	0.3537	N	0.24115	0.695	0.26767	N	0.969874	P	0.43788	0.817	B	0.39339	0.297	T	0.65651	-0.6116	8	.	.	.	.	13.5015	0.61459	0.0:0.1567:0.8433:0.0	.	216	Q9UM73	ALK_HUMAN	V	216	ENSP00000373700:L216V;ENSP00000414027:L216V	.	L	-	1	0	ALK	29996384	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	2.047000	0.41269	2.596000	0.87737	0.655000	0.94253	CTC		0.562	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	55	0	0	0	1	0	6	55				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Agc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S	p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	221	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		9	42	0	0	0	1	0	9	42				
GPR137	56834	broad.mit.edu	37	11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	rs138261831		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:64054480G>A	ENST00000313074.3	+	2	506	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Missense_Mutation_p.R134Q|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18426	0.0		0.001	False		,,,				2504	0.0					ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(400-402)cGa>cAa		G protein-coupled receptor 137							56.0	42.0	47.0					11																	64054480		2201	4296	6497	SO:0001583	missense	56834					integral to membrane		g.chr11:64054480G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.401G>A	11.37:g.64054480G>A	ENSP00000321698:p.Arg134Gln					GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q	p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			3	868	+			134					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.401G>A	CCDS8066.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.7	4.323209	0.81580	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000536667;ENST00000539833;ENST00000377702;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T	0.48836	0.8;0.86;0.86;0.86;0.82	3.91	3.91	0.45181	.	0.085301	0.44483	D	0.000450	T	0.49575	0.1565	L	0.27053	0.805	0.27738	N	0.944563	P;D;P;D;P;D;D	0.76494	0.893;0.999;0.936;0.99;0.893;0.994;0.984	B;P;B;P;B;P;B	0.61477	0.417;0.889;0.164;0.563;0.417;0.651;0.268	T	0.41052	-0.9530	10	0.54805	T	0.06	-2.0214	11.2732	0.49150	0.0:0.0:1.0:0.0	.	134;192;140;134;134;134;134	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	Q	140;192;134;22;134;134;134;134;134;134;134;134;134	ENSP00000411827:R192Q;ENSP00000442792:R134Q;ENSP00000441003:R134Q;ENSP00000415698:R134Q;ENSP00000321698:R134Q	ENSP00000321698:R134Q	R	+	2	0	GPR137	63811056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.782000	0.47758	2.024000	0.59613	0.561000	0.74099	CGA		0.612	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		4	26	0	0	0	1	0	4	26				
KCNJ15	3772	broad.mit.edu	37	21	39671750	39671750	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:39671750G>C	ENST00000328656.4	+	4	870	c.567G>C	c.(565-567)caG>caC	p.Q189H	KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398930.1_Missense_Mutation_p.Q189H	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	189					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TCACCAAGCAGAATGGGAAGC	0.527																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(565-567)caG>caC		potassium inwardly-rectifying channel, subfamily J, member 15							63.0	61.0	62.0					21																	39671750		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671750G>C	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.567G>C	21.37:g.39671750G>C	ENSP00000331698:p.Gln189His					KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q189H|KCNJ15_ENST00000328656.3_Missense_Mutation_p.Q189H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q189H	p.Q189H			Q99712	IRK15_HUMAN			4	921	+			189					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.567G>C	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857465	0.17106	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934	D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.73	4.77	0.60923	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.262657	0.36268	N	0.002686	T	0.74298	0.3698	N	0.00337	-1.62	0.30820	N	0.73784	B	0.02656	0.0	B	0.10450	0.005	T	0.69416	-0.5151	9	.	.	.	.	10.4958	0.44777	0.0:0.2323:0.6482:0.1195	.	189	Q99712	IRK15_HUMAN	H	189	ENSP00000331698:Q189H;ENSP00000381911:Q189H;ENSP00000381905:Q189H;ENSP00000414487:Q189H;ENSP00000381904:Q189H;ENSP00000381907:Q189H	.	Q	+	3	2	KCNJ15	38593620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.151000	0.31651	2.713000	0.92767	0.655000	0.94253	CAG		0.527	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		13	61	0	0	0	1	0	13	61				
VPS11	55823	broad.mit.edu	37	11	118942470	118942470	+	Silent	SNP	C	C	T	rs536672392		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:118942470C>T	ENST00000300793.6	+	6	840	c.798C>T	c.(796-798)ttC>ttT	p.F266F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	267					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGCCCTGCTTCGCCTTTGAGG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19521	0.0		0.0	False		,,,				2504	0.0					ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(796-798)ttC>ttT		vacuolar protein sorting 11 homolog (S. cerevisiae)							151.0	148.0	149.0					11																	118942470		2040	4184	6224	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118942470C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.798C>T	11.37:g.118942470C>T						VPS11_ENST00000527798.1_3'UTR	p.F266F	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	6	840	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	267					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.798C>T																																																																																					0.542	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		13	91	0	0	0	1	0	13	91				
UBR2	23304	broad.mit.edu	37	6	42573562	42573562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:42573562G>T	ENST00000372899.1	+	6	1024	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	UBR2_ENST00000372903.2_Nonsense_Mutation_p.E256*|UBR2_ENST00000372901.1_Nonsense_Mutation_p.E256*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	256					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACACAAAAAGAAGCTATTGG	0.318																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(766-768)Gaa>Taa		ubiquitin protein ligase E3 component n-recognin 2							85.0	87.0	86.0					6																	42573562		2202	4300	6502	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42573562G>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.766G>T	6.37:g.42573562G>T	ENSP00000361990:p.Glu256*					UBR2_ENST00000372903.2_Nonsense_Mutation_p.E256*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.E256*	p.E256*			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	1024	+	Colorectal(47;0.196)		256					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.766G>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821188	0.98507	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-30.4014	19.2409	0.93883	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000361990:E256X	E	+	1	0	UBR2	42681540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.861000	0.99562	2.556000	0.86216	0.557000	0.71058	GAA		0.318	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		14	49	1	0	6.72482e-11	1	7.2502e-11	14	49				
PIH1D2	120379	broad.mit.edu	37	11	111942456	111942456	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:111942456G>C	ENST00000280350.4	-	3	426	c.204C>G	c.(202-204)atC>atG	p.I68M	C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000420986.2_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000530641.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I68M|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	68										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GACACAGGTTGATAAAAAGTA	0.418																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(202-204)atC>atG		PIH1 domain containing 2							106.0	106.0	106.0					11																	111942456		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111942456G>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.204C>G	11.37:g.111942456G>C	ENSP00000280350:p.Ile68Met					PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I68M|PIH1D2_ENST00000280350.4_Missense_Mutation_p.I68M	p.I68M			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	529	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	68					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.204C>G	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.84|14.84	2.655948|2.655948	0.47467|0.47467	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.33438|.	1.41;1.41;1.41;1.41;1.41;1.41|.	4.97|4.97	3.1|3.1	0.35709|0.35709	.|.	0.097280|.	0.64402|.	D|.	0.000002|.	T|T	0.67534|0.67534	0.2903|0.2903	M|M	0.83603|0.83603	2.65|2.65	0.39588|0.39588	D|D	0.969549|0.969549	D;D;D|.	0.76494|.	0.997;0.999;0.997|.	D;D;D|.	0.71870|.	0.975;0.975;0.975|.	T|T	0.67173|0.67173	-0.5737|-0.5737	10|5	0.87932|.	D|.	0|.	-13.2935|-13.2935	6.761|6.761	0.23540|0.23540	0.2808:0.0:0.7191:0.0|0.2808:0.0:0.7191:0.0	.|.	68;68;68|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	M|E	68;68;68;68;68;33|41	ENSP00000434275:I68M;ENSP00000388209:I68M;ENSP00000431841:I68M;ENSP00000280350:I68M;ENSP00000431147:I68M;ENSP00000433297:I33M|.	ENSP00000280350:I68M|.	I|Q	-|-	3|1	3|0	PIH1D2|PIH1D2	111447666|111447666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	0.381000|0.381000	0.20619|0.20619	0.695000|0.695000	0.31675|0.31675	0.561000|0.561000	0.74099|0.74099	ATC|CAA		0.418	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		13	31	0	0	0	1	0	13	31				
POLR3A	11128	broad.mit.edu	37	10	79781930	79781930	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:79781930G>A	ENST00000372371.3	-	6	995	c.858C>T	c.(856-858)atC>atT	p.I286I	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	286					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTAGGAAAATGATTTCTGTCA	0.388																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(856-858)atC>atT		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							102.0	97.0	99.0					10																	79781930		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781930G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.858C>T	10.37:g.79781930G>A							p.I286I	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		6	995	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		286					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.858C>T	CCDS7354.1																																																																																				0.388	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		20	49	0	0	0	1	0	20	49				
PLEKHM1	9842	broad.mit.edu	37	17	43522835	43522835	+	Splice_Site	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:43522835C>A	ENST00000430334.3	-	9	2971		c.e9+1		PLEKHM1_ENST00000421073.2_Splice_Site|PLEKHM1_ENST00000580404.1_Splice_Site	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGGTTGCTCACCTCTTGCTGA	0.552																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e9+1		pleckstrin homology domain containing, family M (with RUN domain) member 1							28.0	24.0	25.0					17																	43522835		2201	4297	6498	SO:0001630	splice_region_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522835C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2837+1G>T	17.37:g.43522835C>A						PLEKHM1_ENST00000580404.1_Splice_Site|PLEKHM1_ENST00000421073.2_Splice_Site		NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			9	2971	-	Renal(3;0.0405)							Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Splice_Site	SNP	ENST00000430334.3	37		CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428869	0.62844	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0666	0.71999	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHM1	40878618	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	6.602000	0.74141	2.493000	0.84123	0.485000	0.47835	.		0.552	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798	Intron	6	51	1	0	0.0381472	1	0.0384257	6	51				
ABCA4	24	broad.mit.edu	37	1	94496668	94496668	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:94496668G>C	ENST00000370225.3	-	28	4223	c.4137C>G	c.(4135-4137)ctC>ctG	p.L1379L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1379					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTAGCCGGGAGCACGATCT	0.473																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4135-4137)ctC>ctG		ATP-binding cassette, sub-family A (ABC1), member 4							126.0	103.0	111.0					1																	94496668		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496668G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4137C>G	1.37:g.94496668G>C							p.L1379L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4223	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1379					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.4137C>G	CCDS747.1																																																																																				0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	37	0	0	0	1	0	5	37				
LRRC74A	145497	broad.mit.edu	37	14	77294657	77294657	+	Nonsense_Mutation	SNP	C	C	T	rs200189415		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:77294657C>T	ENST00000393774.3	+	2	236	c.112C>T	c.(112-114)Cga>Tga	p.R38*	C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000450042.2_Nonsense_Mutation_p.R21*|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGAGCCAGTACGACAGAGCAG	0.502																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(112-114)Cga>Tga		chromosome 14 open reading frame 166B							57.0	57.0	57.0					14																	77294657		1996	4201	6197	SO:0001587	stop_gained	145497							g.chr14:77294657C>T																												ENST00000393774.3:c.112C>T	14.37:g.77294657C>T	ENSP00000377369:p.Arg38*					C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Nonsense_Mutation_p.R21*	p.R38*	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	2	236	+			38						Nonsense_Mutation	SNP	ENST00000393774.3	37	c.112C>T	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	33	5.237865	0.95240	.	.	ENSG00000100565	ENST00000393774;ENST00000555189;ENST00000450042	.	.	.	5.92	-5.27	0.02763	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	0.4766	0.00541	0.2029:0.2129:0.2574:0.3267	.	.	.	.	X	38;38;21	.	ENSP00000216450:R38X	R	+	1	2	C14orf166B	76364410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.220000	0.02971	-0.554000	0.06150	0.655000	0.94253	CGA		0.502	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			21	51	0	0	0	1	0	21	51				
UGP2	7360	broad.mit.edu	37	2	64083475	64083475	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:64083475C>G	ENST00000337130.5	+	2	531	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	UGP2_ENST00000394417.2_Missense_Mutation_p.Q8E|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.Q8E|UGP2_ENST00000445915.2_Missense_Mutation_p.Q28E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	19					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TGGTGCTTCTCAGTTCCAAGA	0.393																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(55-57)Cag>Gag		UDP-glucose pyrophosphorylase 2							174.0	177.0	176.0					2																	64083475		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64083475C>G		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.55C>G	2.37:g.64083475C>G	ENSP00000338703:p.Gln19Glu					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.Q8E|UGP2_ENST00000445915.2_Missense_Mutation_p.Q28E|UGP2_ENST00000394417.2_Missense_Mutation_p.Q8E	p.Q19E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			2	531	+			19					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.55C>G	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	6.418	0.445244	0.12164	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T	0.39787	1.06;1.06;2.29;1.06	6.08	6.08	0.98989	.	0.048326	0.85682	D	0.000000	T	0.24044	0.0582	N	0.08118	0	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17107	-1.0380	10	0.02654	T	1	-2.9258	19.4349	0.94788	0.0:1.0:0.0:0.0	.	28;19	E7EUC7;Q16851	.;UGPA_HUMAN	E	8;19;8;8;8;19;8;11;28;8;8;8	ENSP00000377939:Q8E;ENSP00000420793:Q8E;ENSP00000338703:Q19E;ENSP00000411803:Q28E	ENSP00000338703:Q19E	Q	+	1	0	UGP2	63936979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.617000	0.61204	2.894000	0.99253	0.655000	0.94253	CAG		0.393	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		40	181	0	0	0	1	0	40	181				
GPR119	139760	broad.mit.edu	37	X	129519308	129519308	+	Silent	SNP	A	A	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:129519308A>G	ENST00000276218.2	-	1	203	c.114T>C	c.(112-114)ggT>ggC	p.G38G		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	38					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAGACTGACACCATCATTCT	0.532																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(112-114)ggT>ggC		G protein-coupled receptor 119							238.0	205.0	216.0					X																	129519308		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519308A>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.114T>C	X.37:g.129519308A>G							p.G38G	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	203	-			38					Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.114T>C	CCDS14625.1																																																																																				0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		111	290	0	0	0	1	0	111	290				
CNTROB	116840	broad.mit.edu	37	17	7842900	7842900	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:7842900G>C	ENST00000563694.1	+	8	1922	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	CNTROB_ENST00000380255.3_Missense_Mutation_p.E333Q|CNTROB_ENST00000380262.3_Missense_Mutation_p.E333Q|CNTROB_ENST00000565740.1_Missense_Mutation_p.E333Q	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	333					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCTGCAGGAAGAGCGGGATGC	0.582																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(997-999)Gag>Cag		centrobin, centrosomal BRCA2 interacting protein							84.0	79.0	80.0					17																	7842900		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842900G>C	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.997G>C	17.37:g.7842900G>C	ENSP00000456335:p.Glu333Gln					CNTROB_ENST00000380255.3_Missense_Mutation_p.E333Q|CNTROB_ENST00000563694.1_Missense_Mutation_p.E333Q|CNTROB_ENST00000565740.1_Missense_Mutation_p.E333Q	p.E333Q	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1922	+		Prostate(122;0.173)	333					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.997G>C	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954818	0.53293	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.64618	-0.11;0.65	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000044	T	0.66076	0.2753	L	0.29908	0.895	0.37125	D	0.901019	D;D;D;D	0.76494	0.996;0.999;0.999;0.989	D;D;D;D	0.75484	0.986;0.964;0.964;0.979	T	0.65841	-0.6070	10	0.25106	T	0.35	-14.7809	11.8646	0.52486	0.0853:0.0:0.9147:0.0	.	333;333;333;333	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	Q	333	ENSP00000369614:E333Q;ENSP00000369605:E333Q	ENSP00000369605:E333Q	E	+	1	0	CNTROB	7783625	1.000000	0.71417	0.996000	0.52242	0.202000	0.24057	4.279000	0.58953	2.475000	0.83589	0.313000	0.20887	GAG		0.582	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		42	104	0	0	0	1	0	42	104				
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(229-231)caG>caA		TATA box binding protein							14.0	18.0	17.0					6																	170871055		1934	3804	5738	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871055G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A						TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	510	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	77			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.231G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	95	0	0	0	1	0	4	95				
OR5A2	219981	broad.mit.edu	37	11	59189489	59189489	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:59189489G>C	ENST00000302040.4	-	1	960	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCCACCGTGAGAAATCCCGGG	0.418																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(937-939)tCt>tGt		olfactory receptor, family 5, subfamily A, member 2							88.0	89.0	89.0					11																	59189489		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189489G>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.938C>G	11.37:g.59189489G>C	ENSP00000303834:p.Ser313Cys						p.S313C	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	960	-			313					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.938C>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885884	0.33348	.	.	ENSG00000172324	ENST00000302040	T	0.00006	9.75	4.35	0.224	0.15297	.	0.520018	0.14228	U	0.332940	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	P	0.40619	0.724	B	0.37780	0.258	T	0.00146	-1.1992	10	0.48119	T	0.1	.	6.3181	0.21202	0.4517:0.0:0.5483:0.0	.	313	Q8NGI9	OR5A2_HUMAN	C	313	ENSP00000303834:S313C	ENSP00000303834:S313C	S	-	2	0	OR5A2	58946065	0.001000	0.12720	0.002000	0.10522	0.029000	0.11900	0.028000	0.13644	0.078000	0.16900	0.655000	0.94253	TCT		0.418	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		29	108	0	0	0	1	0	29	108				
KIF16B	55614	broad.mit.edu	37	20	16496215	16496215	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:16496215G>C	ENST00000354981.2	-	4	483	c.326C>G	c.(325-327)tCa>tGa	p.S109*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.S109*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.S109*|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	109	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATAGTGTATGACTTTCCAGA	0.383																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(325-327)tCa>tGa		kinesin family member 16B							136.0	117.0	124.0					20																	16496215		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16496215G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.326C>G	20.37:g.16496215G>C	ENSP00000347076:p.Ser109*					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.S109*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.S109*	p.S109*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			4	483	-			109			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.326C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	37	6.365546	0.97507	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6922	0.96007	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000347076:S109X	S	-	2	0	KIF16B	16444215	1.000000	0.71417	0.989000	0.46669	0.707000	0.40811	9.809000	0.99208	2.704000	0.92352	0.655000	0.94253	TCA		0.383	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		18	57	0	0	0	1	0	18	57				
CYP1A2	1544	broad.mit.edu	37	15	75042739	75042739	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75042739G>A	ENST00000343932.4	+	2	723	c.660G>A	c.(658-660)gtG>gtA	p.V220V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	220					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TCAGCCTCGTGAAGAACACTC	0.567																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(658-660)gtG>gtA		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						267.0	229.0	242.0					15																	75042739		2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042739G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.660G>A	15.37:g.75042739G>A							p.V220V	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	723	+			220					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.660G>A	CCDS32293.1																																																																																				0.567	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		60	160	0	0	0	1	0	60	160				
FANCD2	2177	broad.mit.edu	37	3	10089632	10089632	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:10089632C>T	ENST00000419585.1	+	16	1471	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FANCD2_ENST00000383806.1_Missense_Mutation_p.S437L|FANCD2_ENST00000287647.3_Missense_Mutation_p.S437L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S437L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	437					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCCATTCTGTCGCTGGCTCAG	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1309-1311)tCg>tTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							170.0	174.0	172.0					3																	10089632		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10089632C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1310C>T	3.37:g.10089632C>T	ENSP00000398754:p.Ser437Leu					FANCD2_ENST00000419585.1_Missense_Mutation_p.S437L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S437L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S437L	p.S437L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1403	+			437					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1310C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917173	0.33815	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.69806	0.8;0.8;-0.43;0.8	5.64	2.78	0.32641	.	0.188038	0.46758	N	0.000262	T	0.53578	0.1805	L	0.47716	1.5	0.25180	N	0.990212	B;B	0.21905	0.062;0.062	B;B	0.15870	0.014;0.014	T	0.36648	-0.9739	10	0.22109	T	0.4	.	8.5353	0.33360	0.0:0.7406:0.0:0.2594	.	437;437	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	437	ENSP00000287647:S437L;ENSP00000373318:S437L;ENSP00000373317:S437L;ENSP00000398754:S437L	ENSP00000287647:S437L	S	+	2	0	FANCD2	10064632	0.975000	0.34042	0.009000	0.14445	0.587000	0.36485	2.343000	0.44001	0.274000	0.22072	0.585000	0.79938	TCG		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	182	0	0	0	1	0	7	182				
POTEG	404785	broad.mit.edu	37	14	19553701	19553701	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:19553701G>T	ENST00000409832.3	+	1	337	c.285G>T	c.(283-285)agG>agT	p.R95S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	95										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.617																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(283-285)agG>agT		POTE ankyrin domain family, member G							53.0	66.0	62.0					14																	19553701		1574	3293	4867	SO:0001583	missense	404785							g.chr14:19553701G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.285G>T	14.37:g.19553701G>T	ENSP00000386971:p.Arg95Ser						p.R95S	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	337	+			95					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.285G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	8.020	0.759321	0.15846	.	.	ENSG00000222036	ENST00000409832	T	0.28069	1.63	0.531	0.531	0.17108	.	.	.	.	.	T	0.38134	0.1029	M	0.64404	1.975	0.09310	N	1	D	0.55800	0.973	P	0.53360	0.724	T	0.19877	-1.0292	8	0.33940	T	0.23	.	.	.	.	.	95	Q6S5H5	POTEG_HUMAN	S	95	ENSP00000386971:R95S	ENSP00000386971:R95S	R	+	3	2	POTEG	18623701	0.071000	0.21146	0.047000	0.18901	0.030000	0.12068	0.007000	0.13174	0.561000	0.29186	0.403000	0.27427	AGG		0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		77	922	1	0	3.40343e-31	1	3.75738e-31	77	922				
MYH9	4627	broad.mit.edu	37	22	36708154	36708154	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:36708154G>A	ENST00000216181.5	-	14	1898	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	556	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCTTCTGGAACTTGGGGT	0.587			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1666-1668)ttC>ttT		myosin, heavy chain 9, non-muscle							163.0	129.0	140.0					22																	36708154		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708154G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1668C>T	22.37:g.36708154G>A							p.F556F	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1898	-			556			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1668C>T	CCDS13927.1																																																																																				0.587	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		15	137	0	0	0	1	0	15	137				
CD209	30835	broad.mit.edu	37	19	7810576	7810576	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7810576G>C	ENST00000315599.7	-	4	598	c.576C>G	c.(574-576)atC>atG	p.I192M	CD209_ENST00000354397.6_Missense_Mutation_p.I192M|CD209_ENST00000593660.1_Missense_Mutation_p.I168M|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.I168M|CD209_ENST00000315591.8_Missense_Mutation_p.I168M|CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.I168M|CD209_ENST00000602261.1_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.I148M|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	192	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTCCTGGTAGATCTCCTGCT	0.552																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(574-576)atC>atG		CD209 molecule							47.0	44.0	45.0					19																	7810576		1741	3672	5413	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810576G>C	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.576C>G	19.37:g.7810576G>C	ENSP00000315477:p.Ile192Met					CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.I168M|CD209_ENST00000593660.1_Missense_Mutation_p.I168M|CD209_ENST00000354397.6_Missense_Mutation_p.I192M|CD209_ENST00000204801.8_Missense_Mutation_p.I148M|CD209_ENST00000315591.8_Missense_Mutation_p.I168M|CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.I168M|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	p.I192M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	598	-			192			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.576C>G	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389102	0.25118	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	1.04	1.04	0.20106	.	.	.	.	.	T	0.41627	0.1167	M	0.72118	2.19	0.09310	N	0.999997	D;D;P;D;D;B;D;D	0.71674	0.998;0.997;0.914;0.996;0.997;0.14;0.991;0.996	D;D;P;D;D;B;D;D	0.79784	0.985;0.993;0.839;0.989;0.931;0.102;0.955;0.988	T	0.19289	-1.0310	9	0.27082	T	0.32	.	5.378	0.16176	0.0:0.0:1.0:0.0	.	192;168;148;168;192;168;168;192	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	M	192;192;168;148;176	ENSP00000315477:I192M;ENSP00000346373:I192M;ENSP00000315407:I168M;ENSP00000204801:I148M	ENSP00000204801:I148M	I	-	3	3	CD209	7716576	0.997000	0.39634	0.034000	0.17996	0.106000	0.19336	0.827000	0.27421	0.842000	0.35045	0.305000	0.20034	ATC		0.552	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	178	0	0	0	1	0	5	178				
TRIM54	57159	broad.mit.edu	37	2	27527838	27527838	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:27527838C>T	ENST00000380075.2	+	4	865	c.525C>T	c.(523-525)agC>agT	p.S175S	TRIM54_ENST00000296098.4_Silent_p.S217S	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	175	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGCTCAGCGATGGCATCG	0.607																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(649-651)agC>agT		tripartite motif containing 54							85.0	65.0	72.0					2																	27527838		2203	4300	6503	SO:0001819	synonymous_variant	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27527838C>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.525C>T	2.37:g.27527838C>T						TRIM54_ENST00000380075.2_Silent_p.S175S	p.S217S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			5	921	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	ENST00000380075.2	37	c.651C>T	CCDS1746.2																																																																																				0.607	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		12	37	0	0	0	1	0	12	37				
GAN	8139	broad.mit.edu	37	16	81348778	81348778	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:81348778C>T	ENST00000568107.2	+	1	222	c.60C>T	c.(58-60)ctC>ctT	p.L20L	RP11-55K13.1_ENST00000570148.1_RNA	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	20					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGCGAGCGCTCAGCTCTTTCC	0.706																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(58-60)ctC>ctT		gigaxonin																																				SO:0001819	synonymous_variant	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81348778C>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.60C>T	16.37:g.81348778C>T							p.L20L	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			1	222	+		Colorectal(91;0.153)	20						Silent	SNP	ENST00000568107.2	37	c.60C>T	CCDS10935.1																																																																																				0.706	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			5	15	0	0	0	1	0	5	15				
ADAMTS12	81792	broad.mit.edu	37	5	33637755	33637755	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:33637755C>T	ENST00000504830.1	-	12	2150	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	ADAMTS12_ENST00000352040.3_Silent_p.Q605Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	605	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCACTGCATCTGCCGAAATG	0.478										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1813-1815)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							160.0	154.0	156.0					5																	33637755		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33637755C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1815G>A	5.37:g.33637755C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.Q605Q	p.Q605Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			12	2150	-			605			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1815G>A	CCDS34140.1																																																																																				0.478	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		13	122	0	0	0	1	0	13	122				
HDX	139324	broad.mit.edu	37	X	83724252	83724252	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:83724252G>T	ENST00000297977.5	-	3	590	c.479C>A	c.(478-480)gCa>gAa	p.A160E	HDX_ENST00000506585.2_Missense_Mutation_p.A102E|HDX_ENST00000373177.2_Missense_Mutation_p.A160E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	160						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTACAGTGTGCTACTTGTCT	0.368																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(478-480)gCa>gAa		highly divergent homeobox							225.0	183.0	197.0					X																	83724252		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724252G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.479C>A	X.37:g.83724252G>T	ENSP00000297977:p.Ala160Glu					HDX_ENST00000373177.2_Missense_Mutation_p.A160E|HDX_ENST00000506585.2_Missense_Mutation_p.A102E	p.A160E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	590	-			160					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.479C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887457	0.33348	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.51574	1.37;1.43;1.37;0.7	4.9	3.05	0.35203	.	0.322543	0.33895	N	0.004443	T	0.43077	0.1231	L	0.53249	1.67	0.30292	N	0.790274	P	0.38922	0.651	B	0.35859	0.212	T	0.49437	-0.8940	10	0.62326	D	0.03	-21.5821	14.2665	0.66121	0.0:0.2757:0.7243:0.0	.	160	Q7Z353	HDX_HUMAN	E	160;102;160;102	ENSP00000297977:A160E;ENSP00000362272:A102E;ENSP00000423670:A160E;ENSP00000387790:A102E	ENSP00000297977:A160E	A	-	2	0	HDX	83610908	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.210000	0.72176	0.530000	0.28619	0.513000	0.50165	GCA		0.368	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		24	89	1	0	3.83957e-06	1	4.0141e-06	24	89				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	56	0	0	0	1	0	4	56				
EFS	10278	broad.mit.edu	37	14	23829039	23829039	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829039G>C	ENST00000216733.3	-	4	1255	c.648C>G	c.(646-648)atC>atG	p.I216M	EFS_ENST00000351354.3_Missense_Mutation_p.I123M|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	216	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGCAGCATAGATGGGGGGCC	0.612																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(646-648)atC>atG		embryonal Fyn-associated substrate							37.0	47.0	44.0					14																	23829039		2183	4244	6427	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829039G>C	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.648C>G	14.37:g.23829039G>C	ENSP00000216733:p.Ile216Met					EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.I123M	p.I216M	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1255	-	all_cancers(95;7.12e-06)		216			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.648C>G	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	G	8.428	0.847988	0.17034	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.56776	0.44;0.79	5.08	4.17	0.49024	.	0.427982	0.23245	N	0.050313	T	0.31482	0.0798	N	0.14661	0.345	0.80722	D	1	B;B	0.30973	0.302;0.09	B;B	0.26864	0.074;0.034	T	0.11690	-1.0577	10	0.34782	T	0.22	-17.2715	8.8275	0.35063	0.1828:0.0:0.8172:0.0	.	123;216	O43281-2;O43281	.;EFS_HUMAN	M	216;123	ENSP00000216733:I216M;ENSP00000340607:I123M	ENSP00000216733:I216M	I	-	3	3	EFS	22898879	1.000000	0.71417	0.933000	0.37362	0.173000	0.22820	1.406000	0.34646	1.352000	0.45808	0.563000	0.77884	ATC		0.612	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			41	120	0	0	0	1	0	41	120				
FAM65C	140876	broad.mit.edu	37	20	49208987	49208987	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:49208987G>A	ENST00000327979.2	-	19	2870	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	FAM65C_ENST00000045083.2_Missense_Mutation_p.T820I|FAM65C_ENST00000535356.1_Missense_Mutation_p.T824I|FAM65C_ENST00000462842.1_5'Flank			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	820										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTCTTAAGGTCTGGGGCAG	0.667																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2458-2460)aCc>aTc		family with sequence similarity 65, member C							21.0	25.0	24.0					20																	49208987		1934	4125	6059	SO:0001583	missense	140876							g.chr20:49208987G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2459C>T	20.37:g.49208987G>A	ENSP00000332663:p.Thr820Ile					FAM65C_ENST00000045083.2_Missense_Mutation_p.T820I|FAM65C_ENST00000535356.1_Missense_Mutation_p.T824I	p.T820I			Q96MK2	FA65C_HUMAN			19	2870	-			820					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.2459C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774422	0.31411	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.78126	-1.15;-1.15;-1.15	4.51	4.51	0.55191	.	0.280314	0.25964	U	0.027163	T	0.72244	0.3436	L	0.47716	1.5	0.35289	D	0.782004	P;P	0.50528	0.562;0.936	B;P	0.46320	0.236;0.512	T	0.74948	-0.3490	10	0.20046	T	0.44	-24.676	11.1702	0.48567	0.0855:0.0:0.9145:0.0	.	824;820	F5H0X2;Q96MK2	.;FA65C_HUMAN	I	820;820;824	ENSP00000332663:T820I;ENSP00000045083:T820I;ENSP00000439802:T824I	ENSP00000045083:T820I	T	-	2	0	FAM65C	48642394	1.000000	0.71417	0.921000	0.36526	0.854000	0.48673	5.214000	0.65236	2.216000	0.71823	0.462000	0.41574	ACC		0.667	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			11	39	0	0	0	1	0	11	39				
NPY1R	4886	broad.mit.edu	37	4	164247687	164247687	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:164247687G>A	ENST00000296533.2	-	2	551	c.20C>T	c.(19-21)tCc>tTc	p.S7F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	7					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAACCTGGGAAAATAATGT	0.358																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(19-21)tCc>tTc		neuropeptide Y receptor Y1							85.0	85.0	85.0					4																	164247687		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247687G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.20C>T	4.37:g.164247687G>A	ENSP00000354652:p.Ser7Phe					NPY1R_ENST00000509586.1_Intron	p.S7F	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	551	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	7					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.20C>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	0.956	-0.704976	0.03255	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701;ENST00000511901	T	0.71341	-0.56	5.55	4.71	0.59529	.	2.591810	0.01769	N	0.031042	T	0.52901	0.1763	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	10	0.10902	T	0.67	.	9.2594	0.37603	0.0744:0.0:0.7822:0.1433	.	7	P25929	NPY1R_HUMAN	F	7	ENSP00000354652:S7F	ENSP00000354652:S7F	S	-	2	0	NPY1R	164467137	0.046000	0.20272	0.007000	0.13788	0.691000	0.40173	2.365000	0.44196	1.351000	0.45789	0.650000	0.86243	TCC		0.358	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			17	35	0	0	0	1	0	17	35				
PAGE2B	389860	broad.mit.edu	37	X	55102484	55102484	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55102484C>A	ENST00000374971.1	+	2	62	c.10C>A	c.(10-12)Cat>Aat	p.H4N	PAGE2B_ENST00000374974.3_Missense_Mutation_p.H4N	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	4										lung(3)	3						TATGAGTGAGCATGTGAGAAC	0.363																																						ENST00000374971.1																			0				lung(3)	3						c.(10-12)Cat>Aat		P antigen family, member 2B							105.0	86.0	92.0					X																	55102484		2203	4300	6503	SO:0001583	missense	389860							g.chrX:55102484C>A		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.10C>A	X.37:g.55102484C>A	ENSP00000364110:p.His4Asn					PAGE2B_ENST00000374974.3_Missense_Mutation_p.H4N	p.H4N	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN			2	62	+			4					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.10C>A	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	c	11.33	1.605729	0.28623	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.34275	1.37;2.19	1.29	0.359	0.16088	.	.	.	.	.	T	0.37785	0.1016	M	0.71581	2.175	0.09310	N	1	B	0.34329	0.449	B	0.41174	0.349	T	0.40346	-0.9568	9	0.54805	T	0.06	.	3.4266	0.07413	0.0:0.7086:0.0:0.2914	.	4	Q5JRK9	GGEE3_HUMAN	N	4	ENSP00000364113:H4N;ENSP00000364110:H4N	ENSP00000364110:H4N	H	+	1	0	PAGE2B	55119209	0.141000	0.22595	0.022000	0.16811	0.315000	0.28087	0.020000	0.13466	0.061000	0.16311	0.287000	0.19450	CAT		0.363	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		5	48	1	0	0.014758	1	0.014975	5	48				
SLC6A12	6539	broad.mit.edu	37	12	319191	319191	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:319191G>T	ENST00000428720.1	-	0	705				SLC6A12_ENST00000397296.2_De_novo_Start_InFrame|SLC6A12_ENST00000359674.4_De_novo_Start_InFrame|SLC6A12_ENST00000424061.2_De_novo_Start_InFrame|SLC6A12_ENST00000536824.1_De_novo_Start_InFrame	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12						amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGTGGGCAGGATGACGAGG	0.622																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26								solute carrier family 6 (neurotransmitter transporter), member 12							32.0	27.0	28.0					12																	319191		2202	4299	6501			6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:319191G>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309		12.37:g.319191G>T						SLC6A12_ENST00000397296.2_De_novo_Start_InFrame|SLC6A12_ENST00000359674.4_De_novo_Start_InFrame|SLC6A12_ENST00000536824.1_De_novo_Start_InFrame|SLC6A12_ENST00000424061.2_De_novo_Start_InFrame		NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		0	705	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)							A0AV52|B2R992|D3DUN8	Translation_Start_Site	SNP	ENST00000428720.1	37		CCDS8501.1																																																																																				0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		11	25	1	0	3.86212e-05	1	3.9923e-05	11	25				
ASTE1	28990	broad.mit.edu	37	3	130743861	130743861	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:130743861C>G	ENST00000264992.3	-	3	731	c.290G>C	c.(289-291)aGa>aCa	p.R97T	NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.R97T|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	97					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GATCTTCTCTCTAGCTCTATC	0.403																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(289-291)aGa>aCa		asteroid homolog 1 (Drosophila)							120.0	117.0	118.0					3																	130743861		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130743861C>G	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.290G>C	3.37:g.130743861C>G	ENSP00000264992:p.Arg97Thr					ASTE1_ENST00000514044.1_Missense_Mutation_p.R97T	p.R97T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	731	-			97					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.290G>C	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756180	0.15846	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.45	2.64	0.31445	.	0.220155	0.48286	D	0.000186	T	0.26846	0.0657	L	0.34521	1.04	0.22253	N	0.999254	P;P	0.38677	0.642;0.642	B;B	0.43225	0.412;0.412	T	0.07731	-1.0757	9	0.25106	T	0.35	-9.0667	5.6478	0.17598	0.0:0.5685:0.1346:0.2969	.	97;97	D6RG30;Q2TB18	.;ASTE1_HUMAN	T	97	.	ENSP00000264992:R97T	R	-	2	0	ASTE1	132226551	0.003000	0.15002	0.259000	0.24435	0.144000	0.21451	0.327000	0.19663	0.646000	0.30693	-0.150000	0.13652	AGA		0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		11	48	0	0	0	1	0	11	48				
PYGL	5836	broad.mit.edu	37	14	51382160	51382160	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382160C>T	ENST00000216392.7	-	11	1629	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	PYGL_ENST00000544180.2_Missense_Mutation_p.E399K|PYGL_ENST00000532462.1_Missense_Mutation_p.E433K|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	433					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CCTTCCTCTTCTATCAGAGAC	0.478																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1297-1299)Gaa>Aaa		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						218.0	175.0	190.0					14																	51382160		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382160C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1297G>A	14.37:g.51382160C>T	ENSP00000216392:p.Glu433Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.E399K|PYGL_ENST00000532462.1_Missense_Mutation_p.E433K	p.E433K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			11	1629	-	all_epithelial(31;0.00825)|Breast(41;0.148)		433					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1297G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	37	6.120913	0.97300	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94650	-3.19;-3.19;-3.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	M	0.74467	2.265	0.80722	D	1	D;P;P	0.57257	0.979;0.942;0.61	D;P;P	0.64237	0.923;0.902;0.579	D	0.96952	0.9695	10	0.72032	D	0.01	-21.393	19.1131	0.93326	0.0:1.0:0.0:0.0	.	399;399;433	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	K	433;399;433	ENSP00000431657:E433K;ENSP00000443787:E399K;ENSP00000216392:E433K	ENSP00000216392:E433K	E	-	1	0	PYGL	50451910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GAA		0.478	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		49	92	0	0	0	1	0	49	92				
ZNF624	57547	broad.mit.edu	37	17	16526543	16526543	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:16526543C>G	ENST00000311331.7	-	6	1748	c.1657G>C	c.(1657-1659)Gag>Cag	p.E553Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAAGGTTTCTCTCCTGTATGC	0.368																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(1657-1659)Gag>Cag		zinc finger protein 624							100.0	109.0	106.0					17																	16526543		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526543C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1657G>C	17.37:g.16526543C>G	ENSP00000310472:p.Glu553Gln						p.E553Q	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1748	-			553					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1657G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717485	0.48622	.	.	ENSG00000197566	ENST00000311331	T	0.25912	1.77	2.88	2.88	0.33553	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33673	0.0871	N	0.21545	0.675	0.31510	N	0.66369	D	0.67145	0.996	D	0.67231	0.95	T	0.33979	-0.9847	9	0.72032	D	0.01	.	11.985	0.53142	0.0:1.0:0.0:0.0	.	553	Q9P2J8	ZN624_HUMAN	Q	553	ENSP00000310472:E553Q	ENSP00000310472:E553Q	E	-	1	0	ZNF624	16467268	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	3.166000	0.50785	1.907000	0.55213	0.561000	0.74099	GAG		0.368	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		13	78	0	0	0	1	0	13	78				
ZNF488	118738	broad.mit.edu	37	10	48371155	48371155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:48371155C>A	ENST00000395702.2	+	2	850	c.623C>A	c.(622-624)tCa>tAa	p.S208*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.S101*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	208					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GGTCGACTTTCAACTCCCAAG	0.537																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(622-624)tCa>tAa		zinc finger protein 488							134.0	127.0	129.0					10																	48371155		2203	4300	6503	SO:0001587	stop_gained	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371155C>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.623C>A	10.37:g.48371155C>A	ENSP00000379054:p.Ser208*					ZNF488_ENST00000586537.1_Nonsense_Mutation_p.S101*|ZNF488_ENST00000494156.1_3'UTR	p.S208*			Q96MN9	ZN488_HUMAN			2	850	+			208					Q05CE0	Nonsense_Mutation	SNP	ENST00000395702.2	37	c.623C>A	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	37	6.237124	0.97403	.	.	ENSG00000165388	ENST00000395702	.	.	.	5.55	3.38	0.38709	.	0.248505	0.32231	N	0.006388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.2714	0.10789	0.0:0.5068:0.0:0.4932	.	.	.	.	X	208	.	ENSP00000379054:S208X	S	+	2	0	ZNF488	47991161	1.000000	0.71417	0.190000	0.23270	0.979000	0.70002	3.556000	0.53734	1.264000	0.44198	0.561000	0.74099	TCA		0.537	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		19	108	1	0	5.35267e-07	1	5.63869e-07	19	108				
SLC34A2	10568	broad.mit.edu	37	4	25677805	25677805	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:25677805T>C	ENST00000382051.3	+	13	1557	c.1507T>C	c.(1507-1509)Tac>Cac	p.Y503H	SLC34A2_ENST00000504570.1_Missense_Mutation_p.Y502H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.Y502H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	503					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTGCTGTGGTACCCGATCCC	0.577			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1507-1509)Tac>Cac		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							123.0	100.0	108.0					4																	25677805		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677805T>C	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1507T>C	4.37:g.25677805T>C	ENSP00000371483:p.Tyr503His					SLC34A2_ENST00000503434.1_Missense_Mutation_p.Y502H|SLC34A2_ENST00000504570.1_Missense_Mutation_p.Y502H	p.Y503H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1557	+		Breast(46;0.0503)	503					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1507T>C	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081051	0.76528	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86297	-2.1;-2.1;-2.1	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96797	0.9586	10	0.87932	D	0	-32.3522	15.3304	0.74203	0.0:0.0:0.0:1.0	.	502;503	O95436-2;O95436	.;NPT2B_HUMAN	H	502;503;502	ENSP00000425501:Y502H;ENSP00000371483:Y503H;ENSP00000423021:Y502H	ENSP00000371483:Y503H	Y	+	1	0	SLC34A2	25286903	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	8.040000	0.89188	2.089000	0.63090	0.459000	0.35465	TAC		0.577	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	64	0	0	0	1	0	12	64				
RPL17	6139	broad.mit.edu	37	18	47017915	47017915	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:47017915C>T	ENST00000418495.1	-	2	367	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RPL17_ENST00000580210.1_Intron|RPL17_ENST00000579408.1_Silent_p.E9E|RPL17_ENST00000581373.1_5'UTR|RPL17_ENST00000580261.1_Silent_p.E9E|SNORD58A_ENST00000383875.1_RNA|RPL17_ENST00000581091.1_5'UTR|SNORD58C_ENST00000365223.1_RNA|RPL17_ENST00000579248.1_Silent_p.E9E|MIR1539_ENST00000581232.1_RNA|SNORD58B_ENST00000607313.1_RNA|RPL17-C18orf32_ENST00000584895.1_Silent_p.E9E|RPL17-C18orf32_ENST00000332968.6_5'UTR	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						TCGTGGGGTTCTCCGGGTCAA	0.393																																						ENST00000584895.1																			0											c.(25-27)gaG>gaA									189.0	175.0	179.0					18																	47017915		1874	4101	5975	SO:0001819	synonymous_variant	100526842							g.chr18:47017915C>T	AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"""L ribosomal proteins"""	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.27G>A	18.37:g.47017915C>T						RPL17_ENST00000580210.1_Intron|MIR1539_ENST00000581232.1_RNA|RPL17-C18orf32_ENST00000332968.6_5'UTR|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579408.1_Silent_p.E9E|RPL17_ENST00000581373.1_5'UTR|RPL17_ENST00000418495.1_Silent_p.E9E|RPL17_ENST00000580261.1_Silent_p.E9E|RPL17_ENST00000579248.1_Silent_p.E9E	p.E9E	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1					1	41	-								B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	Silent	SNP	ENST00000418495.1	37	c.27G>A	CCDS45865.1																																																																																				0.393	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447589.2	NM_000985		22	95	0	0	0	1	0	22	95				
LEFTY1	10637	broad.mit.edu	37	1	226075256	226075256	+	Missense_Mutation	SNP	G	G	A	rs376691125		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:226075256G>A	ENST00000272134.5	-	3	659	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.P302L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	194					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AGCGGCTGCCGGGGCCGGCTC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		11046	0.001		0.0	False		,,,				2504	0.0					ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(580-582)Cgg>Tgg		left-right determination factor 1		G	TRP/ARG	0,4182		0,0,2091	8.0	12.0	10.0		580	-2.4	0.9	1		10	1,8179		0,1,4089	no	missense	LEFTY1	NM_020997.3	101	0,1,6180	AA,AG,GG		0.0122,0.0,0.0081	probably-damaging	194/367	226075256	1,12361	2091	4090	6181	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075256G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.580C>T	1.37:g.226075256G>A	ENSP00000272134:p.Arg194Trp					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.P302L	p.R194W	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			3	659	-	Breast(184;0.197)		194					B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.580C>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946444|2.946444	0.53186|0.53186	0.0|0.0	1.22E-4|1.22E-4	ENSG00000255835|ENSG00000243709	ENST00000432920|ENST00000272134	D|T	0.82803|0.65549	-1.65|-0.16	3.69|3.69	-2.37|-2.37	0.06643|0.06643	.|Transforming growth factor-beta, N-terminal (1);	.|0.462405	.|0.24325	.|N	.|0.039518	T|T	0.63402|0.63402	0.2508|0.2508	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B|D	0.21905|0.69078	0.062|0.997	B|P	0.12837|0.57244	0.008|0.816	T|T	0.55988|0.55988	-0.8053|-0.8053	9|10	0.87932|0.72032	D|D	0|0.01	1.8679|1.8679	2.1061|2.1061	0.03691|0.03691	0.1102:0.2042:0.3977:0.2879|0.1102:0.2042:0.3977:0.2879	.|.	302|194	E7EUD8|O75610	.|LFTY1_HUMAN	L|W	302|194	ENSP00000414068:P302L|ENSP00000272134:R194W	ENSP00000414068:P302L|ENSP00000272134:R194W	P|R	-|-	2|1	0|2	RP4-559A3.7|LEFTY1	224141879|224141879	0.000000|0.000000	0.05858|0.05858	0.909000|0.909000	0.35828|0.35828	0.492000|0.492000	0.33523|0.33523	0.427000|0.427000	0.21379|0.21379	-0.142000|-0.142000	0.11354|0.11354	0.313000|0.313000	0.20887|0.20887	CCG|CGG		0.692	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		18	37	0	0	0	1	0	18	37				
MAF1	84232	broad.mit.edu	37	8	145160607	145160607	+	Silent	SNP	G	G	A	rs17852938		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145160607G>A	ENST00000322428.5	+	2	425	c.21G>A	c.(19-21)tcG>tcA	p.S7S	MAF1_ENST00000532522.1_Silent_p.S7S|MAF1_ENST00000534585.1_Silent_p.S7S|SHARPIN_ENST00000533948.1_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|KIAA1875_ENST00000323662.8_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	7					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGAGAACTCGAGCTTTGAAG	0.562																																						ENST00000534585.1																			0				central_nervous_system(1)|lung(8)|urinary_tract(1)	10						c.(19-21)tcG>tcA		MAF1 homolog (S. cerevisiae)							87.0	78.0	81.0					8																	145160607		2203	4300	6503	SO:0001819	synonymous_variant	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145160607G>A		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.21G>A	8.37:g.145160607G>A						MAF1_ENST00000322428.5_Silent_p.S7S|MAF1_ENST00000532522.1_Silent_p.S7S	p.S7S			Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	412	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		7					D3DWL4	Silent	SNP	ENST00000322428.5	37	c.21G>A	CCDS6416.1																																																																																				0.562	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		17	101	0	0	0	1	0	17	101				
AKIP1	56672	broad.mit.edu	37	11	8933201	8933201	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:8933201C>T	ENST00000309377.4	+	2	295	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	AKIP1_ENST00000396648.2_Missense_Mutation_p.R69C|AKIP1_ENST00000299576.5_Missense_Mutation_p.R69C|AKIP1_ENST00000525005.1_Missense_Mutation_p.R69C|AKIP1_ENST00000529876.1_Missense_Mutation_p.R69C|AKIP1_ENST00000534506.1_Missense_Mutation_p.R69C|AKIP1_ENST00000534147.1_Missense_Mutation_p.R69C|AKIP1_ENST00000309357.4_Missense_Mutation_p.R69C|ST5_ENST00000534127.1_5'Flank	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	69					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						CGGCCCGCAGCGCGTTCTCCC	0.741																																						ENST00000529876.1																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(205-207)Cgc>Tgc		A kinase (PRKA) interacting protein 1							7.0	10.0	9.0					11																	8933201		2169	4251	6420	SO:0001583	missense	56672					nucleus	protein binding	g.chr11:8933201C>T	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.205C>T	11.37:g.8933201C>T	ENSP00000310459:p.Arg69Cys					AKIP1_ENST00000299576.5_Missense_Mutation_p.R69C|AKIP1_ENST00000309357.4_Missense_Mutation_p.R69C|AKIP1_ENST00000534147.1_Missense_Mutation_p.R69C|AKIP1_ENST00000396648.2_Missense_Mutation_p.R69C|AKIP1_ENST00000525005.1_Missense_Mutation_p.R69C|AKIP1_ENST00000534506.1_Missense_Mutation_p.R69C|AKIP1_ENST00000309377.4_Missense_Mutation_p.R69C	p.R69C			Q9NQ31	AKIP1_HUMAN			1	466	+			69					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	ENST00000309377.4	37	c.205C>T	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964097	0.53507	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000529876;ENST00000525005;ENST00000524577;ENST00000534506;ENST00000396648;ENST00000534147;ENST00000529942	T;T;T;T;T;T;T;T;T;T	0.37915	1.25;1.32;1.32;1.17;1.32;1.25;1.17;1.25;1.32;1.44	4.68	0.596	0.17496	.	0.524057	0.18913	N	0.127683	T	0.25938	0.0632	M	0.68317	2.08	0.09310	N	1	B;P;B;B;B	0.35493	0.128;0.505;0.03;0.219;0.263	B;B;B;B;B	0.27262	0.029;0.078;0.011;0.034;0.046	T	0.22243	-1.0222	10	0.54805	T	0.06	-0.4235	1.9555	0.03375	0.1613:0.5047:0.1564:0.1776	.	69;69;69;69;69	E9PN38;B4DGE2;Q9NQ31-2;Q9NQ31-3;Q9NQ31	.;.;.;.;AKIP1_HUMAN	C	69;69;69;69;69;69;69;69;69;64	ENSP00000299576:R69C;ENSP00000310459:R69C;ENSP00000310644:R69C;ENSP00000434726:R69C;ENSP00000433510:R69C;ENSP00000434785:R69C;ENSP00000434820:R69C;ENSP00000379885:R69C;ENSP00000431331:R69C;ENSP00000431602:R64C	ENSP00000299576:R69C	R	+	1	0	AKIP1	8889777	0.075000	0.21258	0.003000	0.11579	0.003000	0.03518	1.185000	0.32065	0.123000	0.18342	-0.176000	0.13171	CGC		0.741	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		3	10	0	0	0	1	0	3	10				
DERL2	51009	broad.mit.edu	37	17	5383811	5383811	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:5383811C>T	ENST00000158771.4	-	5	474	c.419G>A	c.(418-420)cGc>cAc	p.R140H	DERL2_ENST00000570848.1_Intron|DERL2_ENST00000571968.1_5'Flank|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	140					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						GAAGTTCATGCGGACATAGGG	0.493																																						ENST00000158771.4																			0				large_intestine(3)	3						c.(418-420)cGc>cAc		derlin 2							137.0	146.0	143.0					17																	5383811		2203	4300	6503	SO:0001583	missense	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5383811C>T	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.419G>A	17.37:g.5383811C>T	ENSP00000158771:p.Arg140His					DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron	p.R140H	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN			5	474	-			140					Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	c.419G>A	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525907	0.64860	.	.	ENSG00000072849	ENST00000158771	T	0.13196	2.61	6.07	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.25502	-1.0130	10	0.25751	T	0.34	-1.4237	16.4867	0.84185	0.0:0.869:0.131:0.0	.	140	Q9GZP9	DERL2_HUMAN	H	140	ENSP00000158771:R140H	ENSP00000158771:R140H	R	-	2	0	DERL2	5324535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	1.555000	0.49500	0.655000	0.94253	CGC		0.493	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		5	183	0	0	0	1	0	5	183				
CWF19L1	55280	broad.mit.edu	37	10	102005556	102005556	+	Splice_Site	SNP	G	G	A	rs557407789		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:102005556G>A	ENST00000354105.4	-	9	1050	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CWF19L1_ENST00000370379.1_Splice_Site_p.P77S|CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	322							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGGTACTTACGAGGTTTGCGA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		22171	0.001		0.0	False		,,,				2504	0.0					ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.e9+1		CWF19-like 1, cell cycle control (S. pombe)							126.0	116.0	119.0					10																	102005556		2203	4300	6503	SO:0001630	splice_region_variant	55280						catalytic activity	g.chr10:102005556G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.964+1C>T	10.37:g.102005556G>A						CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Splice_Site_p.P77_splice	p.P322_splice	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	9	1050	-		Colorectal(252;0.117)	322					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Splice_Site	SNP	ENST00000354105.4	37	c.964_splice	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020673	0.54576	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.24151	2.24;1.87	5.78	4.88	0.63580	Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.155258	0.64402	D	0.000015	T	0.29423	0.0733	M	0.68317	2.08	0.58432	D	0.999999	B;B	0.21071	0.051;0.035	B;B	0.26416	0.047;0.069	T	0.05683	-1.0870	9	.	.	.	-1.4755	12.93	0.58282	0.0787:0.0:0.9213:0.0	.	185;322	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	S	322;77	ENSP00000326411:P322S;ENSP00000359405:P77S	.	P	-	1	0	CWF19L1	101995546	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.977000	0.70492	1.591000	0.50007	0.591000	0.81541	CCT		0.418	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	Missense_Mutation	7	64	0	0	0	1	0	7	64				
RGS5	8490	broad.mit.edu	37	1	163138103	163138103	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:163138103C>G	ENST00000313961.5	-	2	377	c.100G>C	c.(100-102)Ggt>Cgt	p.G34R	RGS5_ENST00000530507.1_Missense_Mutation_p.G34R|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000534288.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Missense_Mutation_p.G54R	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	34					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			ACAAGGTCACCAACTGAGTCT	0.478																																						ENST00000313961.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(100-102)Ggt>Cgt		regulator of G-protein signaling 5							221.0	209.0	213.0					1																	163138103		2203	4300	6503	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163138103C>G	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.100G>C	1.37:g.163138103C>G	ENSP00000319308:p.Gly34Arg					RGS5_ENST00000527988.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000367903.3_Missense_Mutation_p.G54R|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.G34R	p.G34R	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		2	377	-			34					E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.100G>C	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794300	0.16327	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507	T;T;T	0.54866	0.57;0.55;0.57	5.59	-1.68	0.08212	.	0.609591	0.16779	N	0.199893	T	0.18215	0.0437	L	0.49126	1.545	0.25289	N	0.989374	B	0.17852	0.024	B	0.20767	0.031	T	0.12837	-1.0532	9	0.17369	T	0.5	.	5.6945	0.17847	0.0:0.2516:0.1618:0.5867	.	34	O15539	RGS5_HUMAN	R	34;54;34	ENSP00000319308:G34R;ENSP00000356879:G54R;ENSP00000433001:G34R	ENSP00000319308:G34R	G	-	1	0	RGS5	161404727	0.008000	0.16893	0.000000	0.03702	0.609000	0.37215	0.574000	0.23714	-0.163000	0.10946	0.557000	0.71058	GGT		0.478	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		11	134	0	0	0	1	0	11	134				
ZNF710	374655	broad.mit.edu	37	15	90610895	90610895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:90610895C>T	ENST00000268154.4	+	2	777	c.526C>T	c.(526-528)Cga>Tga	p.R176*		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	176	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATCTGCCCCGAACCCCGAG	0.721																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(526-528)Cga>Tga		zinc finger protein 710							12.0	16.0	15.0					15																	90610895		2175	4281	6456	SO:0001587	stop_gained	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610895C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.526C>T	15.37:g.90610895C>T	ENSP00000268154:p.Arg176*						p.R176*	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	777	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		176			Pro-rich.		A0AVS3|Q6ZMK9|Q8NDU0	Nonsense_Mutation	SNP	ENST00000268154.4	37	c.526C>T	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418990	0.83559	.	.	ENSG00000140548	ENST00000268154	.	.	.	5.12	3.16	0.36331	.	0.828515	0.10142	N	0.710752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.365	9.2025	0.37268	0.1598:0.551:0.2892:0.0	.	.	.	.	X	176	.	ENSP00000268154:R176X	R	+	1	2	ZNF710	88411899	0.720000	0.27996	0.011000	0.14972	0.410000	0.31052	1.239000	0.32719	0.666000	0.31087	0.655000	0.94253	CGA		0.721	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		3	37	0	0	0	1	0	3	37				
PYGL	5836	broad.mit.edu	37	14	51382669	51382669	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51382669C>T	ENST00000216392.7	-	10	1445	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	PYGL_ENST00000544180.2_Silent_p.K337K|PYGL_ENST00000532462.1_Silent_p.K371K|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	371					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGGCGAAGGTCTTCTGGGTGA	0.607																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1111-1113)aaG>aaA		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						84.0	76.0	79.0					14																	51382669		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382669C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1113G>A	14.37:g.51382669C>T						PYGL_ENST00000544180.2_Silent_p.K337K|PYGL_ENST00000532462.1_Silent_p.K371K	p.K371K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			10	1445	-	all_epithelial(31;0.00825)|Breast(41;0.148)		371					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1113G>A	CCDS32080.1																																																																																				0.607	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		25	62	0	0	0	1	0	25	62				
GPT	2875	broad.mit.edu	37	8	145730447	145730447	+	Missense_Mutation	SNP	G	G	A	rs146211713		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:145730447G>A	ENST00000528431.1	+	5	585	c.428G>A	c.(427-429)cGt>cAt	p.R143H	GPT_ENST00000394955.2_Missense_Mutation_p.R143H			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	143					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	ATTGAGAGGCGTGACGGAGGC	0.637													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.0					ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(427-429)cGt>cAt		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	90.0	91.0	91.0		428	5.1	0.9	8	dbSNP_134	91	0,8596		0,0,4298	yes	missense	GPT	NM_005309.2	29	0,4,6497	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	143/497	145730447	4,12998	2203	4298	6501	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730447G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.428G>A	8.37:g.145730447G>A	ENSP00000433586:p.Arg143His					GPT_ENST00000528431.1_Missense_Mutation_p.R143H	p.R143H	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	651	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		143					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.428G>A	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465705	0.84425	9.08E-4	0.0	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91631	-2.88;-2.88	5.08	5.08	0.68730	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98450	1.0591	10	0.87932	D	0	-23.0282	16.0149	0.80430	0.0:0.0:1.0:0.0	.	143;143	B4DPT5;P24298	.;ALAT1_HUMAN	H	143	ENSP00000433586:R143H;ENSP00000378408:R143H	ENSP00000378408:R143H	R	+	2	0	GPT	145701255	1.000000	0.71417	0.935000	0.37517	0.239000	0.25481	4.766000	0.62279	2.370000	0.80446	0.556000	0.70494	CGT		0.637	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			20	88	0	0	0	1	0	20	88				
PCYOX1	51449	broad.mit.edu	37	2	70486522	70486522	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70486522C>T	ENST00000433351.2	+	2	171	c.143C>T	c.(142-144)tCa>tTa	p.S48L	PCYOX1_ENST00000264441.5_Missense_Mutation_p.S48L|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	48					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGTGGCACTTCAGCAGCCTAT	0.453																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(142-144)tCa>tTa		prenylcysteine oxidase 1							149.0	168.0	162.0					2																	70486522		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486522C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.143C>T	2.37:g.70486522C>T	ENSP00000387654:p.Ser48Leu					PCYOX1_ENST00000264441.5_Missense_Mutation_p.S48L|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR	p.S48L	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			2	171	+			48					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.143C>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594896	0.96602	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.81247	-1.47;-1.47	5.39	5.39	0.77823	FAD dependent oxidoreductase (1);	0.175862	0.50627	D	0.000112	D	0.89577	0.6755	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.986;0.998	P;D	0.64877	0.877;0.93	D	0.90532	0.4496	10	0.87932	D	0	-12.267	17.8844	0.88849	0.0:1.0:0.0:0.0	.	48;48	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	L	48	ENSP00000387654:S48L;ENSP00000264441:S48L	ENSP00000264441:S48L	S	+	2	0	PCYOX1	70340026	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	5.571000	0.67404	2.795000	0.96236	0.655000	0.94253	TCA		0.453	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		105	250	0	0	0	1	0	105	250				
SIN3A	25942	broad.mit.edu	37	15	75705314	75705314	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr15:75705314G>C	ENST00000394947.3	-	5	860	c.546C>G	c.(544-546)ttC>ttG	p.F182L	SIN3A_ENST00000360439.4_Missense_Mutation_p.F182L|SIN3A_ENST00000394949.4_Missense_Mutation_p.F182L	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGAAGGTGTTGAATCCCATTA	0.468																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(544-546)ttC>ttG		SIN3 transcription regulator family member A							143.0	128.0	133.0					15																	75705314		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75705314G>C	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.546C>G	15.37:g.75705314G>C	ENSP00000378402:p.Phe182Leu					SIN3A_ENST00000394949.4_Missense_Mutation_p.F182L|SIN3A_ENST00000360439.4_Missense_Mutation_p.F182L	p.F182L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			5	860	-			182	FNTFLPPGYKI -> IQHLFAPWATKM (in Ref. 4; AAK95854).		Interaction with HCFC1.|PAH 1.			Missense_Mutation	SNP	ENST00000394947.3	37	c.546C>G	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331563	0.81690	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.65549	-0.16;-0.16;-0.16	6.04	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79598	-0.1737	10	0.87932	D	0	-17.9196	10.5277	0.44958	0.2906:0.0:0.7094:0.0	.	182	Q96ST3	SIN3A_HUMAN	L	182	ENSP00000378402:F182L;ENSP00000378403:F182L;ENSP00000353622:F182L	ENSP00000353622:F182L	F	-	3	2	SIN3A	73492367	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.851000	0.39338	0.870000	0.35726	-0.291000	0.09656	TTC		0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		12	64	0	0	0	1	0	12	64				
SYNPO	11346	broad.mit.edu	37	5	150029889	150029889	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:150029889C>G	ENST00000394243.1	+	3	3158	c.2784C>G	c.(2782-2784)ttC>ttG	p.F928L	SYNPO_ENST00000519664.1_Missense_Mutation_p.F684L|SYNPO_ENST00000307662.4_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.F928L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	928					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTCTGCTTCAAGTAACGAA	0.632																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2782-2784)ttC>ttG		synaptopodin							21.0	23.0	23.0					5																	150029889		2199	4297	6496	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029889C>G	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2784C>G	5.37:g.150029889C>G	ENSP00000377789:p.Phe928Leu					SYNPO_ENST00000522122.1_Missense_Mutation_p.F928L|SYNPO_ENST00000519664.1_Missense_Mutation_p.F684L|SYNPO_ENST00000307662.4_Intron	p.F928L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	3158	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	928					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2784C>G	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533557	0.64972	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000519664	T;T;T	0.25912	1.77;1.77;1.82	5.55	5.55	0.83447	.	0.998355	0.08107	N	0.996709	T	0.46718	0.1407	L	0.44542	1.39	0.34741	D	0.730762	D	0.64830	0.994	P	0.60789	0.879	T	0.50285	-0.8846	10	0.66056	D	0.02	-1.8138	19.1029	0.93281	0.0:1.0:0.0:0.0	.	928	Q8N3V7	SYNPO_HUMAN	L	928;928;684	ENSP00000377789:F928L;ENSP00000428378:F928L;ENSP00000429268:F684L	ENSP00000377789:F928L	F	+	3	2	SYNPO	150010082	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.450000	0.52957	2.615000	0.88500	0.561000	0.74099	TTC		0.632	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		7	40	0	0	0	1	0	7	40				
SNAPC2	6618	broad.mit.edu	37	19	7985294	7985294	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:7985294C>G	ENST00000221573.6	+	1	94	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	SNAPC2_ENST00000597584.1_5'Flank|CTD-3193O13.1_ENST00000564226.1_RNA	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	15					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCGCGCTATCTGGGCGAGGT	0.721																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(43-45)Ctg>Gtg		small nuclear RNA activating complex, polypeptide 2, 45kDa							6.0	7.0	7.0					19																	7985294		1849	3877	5726	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7985294C>G	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.43C>G	19.37:g.7985294C>G	ENSP00000221573:p.Leu15Val						p.L15V	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			1	94	+			15					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.43C>G	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	C	8.809	0.934696	0.18206	.	.	ENSG00000104976	ENST00000221573	T	0.47177	0.85	4.21	0.646	0.17789	.	1.491010	0.04605	N	0.399233	T	0.27559	0.0677	N	0.17474	0.49	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.16424	-1.0403	10	0.02654	T	1	0.0713	7.2549	0.26171	0.1823:0.4639:0.3538:0.0	.	15	Q13487	SNPC2_HUMAN	V	15	ENSP00000221573:L15V	ENSP00000221573:L15V	L	+	1	2	SNAPC2	7891294	0.001000	0.12720	0.049000	0.19019	0.751000	0.42716	0.364000	0.20325	0.130000	0.18549	0.561000	0.74099	CTG		0.721	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		3	16	0	0	0	1	0	3	16				
ARVCF	421	broad.mit.edu	37	22	19963263	19963263	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:19963263T>C	ENST00000263207.3	-	11	2197	c.1906A>G	c.(1906-1908)Atg>Gtg	p.M636V	ARVCF_ENST00000406522.1_Missense_Mutation_p.M567V|ARVCF_ENST00000406259.1_Missense_Mutation_p.M630V|ARVCF_ENST00000401994.1_Missense_Mutation_p.M573V|ARVCF_ENST00000344269.3_Missense_Mutation_p.M573V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	636					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TTCCGGTCCATCTCACCATCC	0.577																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1906-1908)Atg>Gtg		armadillo repeat gene deleted in velocardiofacial syndrome							152.0	107.0	122.0					22																	19963263		2202	4300	6502	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19963263T>C		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1906A>G	22.37:g.19963263T>C	ENSP00000263207:p.Met636Val					ARVCF_ENST00000406259.1_Missense_Mutation_p.M630V|ARVCF_ENST00000406522.1_Missense_Mutation_p.M567V|ARVCF_ENST00000344269.3_Missense_Mutation_p.M573V|ARVCF_ENST00000401994.1_Missense_Mutation_p.M573V	p.M636V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			11	2197	-	Colorectal(54;0.0993)		636					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1906A>G	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	T	8.304	0.820634	0.16678	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	4.74	1.4	0.22301	Armadillo-type fold (1);	0.736348	0.12440	N	0.468775	T	0.49898	0.1584	N	0.08118	0	0.26216	N	0.979231	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30707	-0.9969	9	.	.	.	-21.3253	7.8799	0.29616	0.0:0.2507:0.0:0.7493	.	636;152	O00192;E7EV58	ARVC_HUMAN;.	V	636;573;573;567;630	ENSP00000263207:M636V;ENSP00000342042:M573V;ENSP00000384341:M573V;ENSP00000384732:M567V;ENSP00000385444:M630V	.	M	-	1	0	ARVCF	18343263	0.991000	0.36638	0.988000	0.46212	0.952000	0.60782	1.100000	0.31025	0.077000	0.16863	-0.376000	0.06991	ATG		0.577	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		7	31	0	0	0	1	0	7	31				
MED14	9282	broad.mit.edu	37	X	40534570	40534570	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:40534570C>T	ENST00000324817.1	-	22	3042	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	975					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGACCTTCTTCGAGCATC	0.388																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2923-2925)aGa>aAa		mediator complex subunit 14							77.0	65.0	69.0					X																	40534570		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40534570C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2924G>A	X.37:g.40534570C>T	ENSP00000323720:p.Arg975Lys					MED14_ENST00000496531.1_5'UTR	p.R975K	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			22	3042	-			975					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.2924G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807953	0.90707	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.64404	1.975	0.80722	D	1	P	0.48764	0.915	B	0.43990	0.438	T	0.62895	-0.6757	9	0.38643	T	0.18	.	17.5412	0.87848	0.0:1.0:0.0:0.0	.	975	O60244	MED14_HUMAN	K	975	.	ENSP00000323720:R975K	R	-	2	0	MED14	40419514	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.487000	0.81328	2.069000	0.61940	0.468000	0.43344	AGA		0.388	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		10	37	0	0	0	1	0	10	37				
TENM1	10178	broad.mit.edu	37	X	124029892	124029892	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:124029892C>T	ENST00000371130.3	-	2	479	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R139Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	139	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										AGAGTTGGCCCGGCTGGACAA	0.438																																						ENST00000422452.2																			0											c.(415-417)cGg>cAg		teneurin transmembrane protein 1							249.0	209.0	222.0					X																	124029892		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124029892C>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.416G>A	X.37:g.124029892C>T	ENSP00000360171:p.Arg139Gln					TENM1_ENST00000371130.3_Missense_Mutation_p.R139Q	p.R139Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					2	479	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.416G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438539	0.96168	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.44482	0.92;0.92	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000003	T	0.63224	0.2493	L	0.58810	1.83	0.54753	D	0.999984	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.992;0.992;0.992	T	0.65294	-0.6203	10	0.87932	D	0	.	18.7885	0.91964	0.0:1.0:0.0:0.0	.	139;139;139	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	139	ENSP00000360171:R139Q;ENSP00000403954:R139Q	ENSP00000360171:R139Q	R	-	2	0	ODZ1	123857573	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.417000	0.80156	2.469000	0.83416	0.600000	0.82982	CGG		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		68	194	0	0	0	1	0	68	194				
MYH1	4619	broad.mit.edu	37	17	10399804	10399804	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:10399804C>T	ENST00000226207.5	-	34	4813	c.4719G>A	c.(4717-4719)aaG>aaA	p.K1573K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1573					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAACCTCAGACTTGACTTGGT	0.433																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4717-4719)aaG>aaA		myosin, heavy chain 1, skeletal muscle, adult							120.0	119.0	119.0					17																	10399804		2203	4298	6501	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399804C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4719G>A	17.37:g.10399804C>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.K1573K	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4813	-			1573					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.4719G>A	CCDS11155.1																																																																																				0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		30	94	0	0	0	1	0	30	94				
VPS13D	55187	broad.mit.edu	37	1	12557583	12557583	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12557583G>A	ENST00000471923.1	+	0	340				VPS13D_ENST00000543710.1_Missense_Mutation_p.R35H|VPS13D_ENST00000356315.4_Missense_Mutation_p.R4206H|VPS13D_ENST00000543766.1_Missense_Mutation_p.R229H|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000358136.3_Missense_Mutation_p.R4231H					vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R4231L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGGAAACCGCGTTGCTGCACG	0.507																																						ENST00000471923.1																			1	Substitution - Missense(1)	p.R4231L(1)	lung(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130								vacuolar protein sorting 13 homolog D (S. cerevisiae)							70.0	70.0	70.0					1																	12557583		2203	4300	6503			55187				protein localization			g.chr1:12557583G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000471923.1:c.-341G>A	1.37:g.12557583G>A						VPS13D_ENST00000356315.4_Missense_Mutation_p.R4206H|VPS13D_ENST00000543766.1_Missense_Mutation_p.R229H|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000358136.3_Missense_Mutation_p.R4231H|VPS13D_ENST00000543710.1_Missense_Mutation_p.R35H				Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	0	340	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)							Translation_Start_Site	SNP	ENST00000471923.1	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.517358|5.517358	0.96416|0.96416	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.00745|.	5.75;5.75;5.75|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84977|0.84977	0.5592|0.5592	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	D|D	0.85892|0.85892	0.1429|0.1429	10|5	0.87932|.	D|.	0|.	.|.	19.545|19.545	0.95291|0.95291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;4206;4230|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	H|I	4206;4231;229;35|3053	ENSP00000348666:R4206H;ENSP00000350854:R4231H;ENSP00000441122:R229H|.	ENSP00000348666:R4206H|.	R|V	+|+	2|1	0|0	VPS13D|VPS13D	12480170|12480170	1.000000|1.000000	0.71417|0.71417	0.251000|0.251000	0.24312|0.24312	0.895000|0.895000	0.52256|0.52256	9.161000|9.161000	0.94739|0.94739	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.507	VPS13D-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000036902.2	NM_015378		8	57	0	0	0	1	0	8	57				
TMEM132D	121256	broad.mit.edu	37	12	130185208	130185208	+	Silent	SNP	T	T	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:130185208T>G	ENST00000422113.2	-	2	441	c.115A>C	c.(115-117)Agg>Cgg	p.R39R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(115-117)Agg>Cgg		transmembrane protein 132D							115.0	79.0	91.0					12																	130185208		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185208T>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.115A>C	12.37:g.130185208T>G							p.R39R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	441	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	39					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.115A>C	CCDS9266.1																																																																																				0.542	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	44	0	0	0	1	0	9	44				
GPATCH1	55094	broad.mit.edu	37	19	33600794	33600794	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:33600794C>G	ENST00000170564.2	+	11	1771	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	486					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCACTGCTCTTGGAACATG	0.572																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1456-1458)tCt>tGt		G patch domain containing 1							44.0	41.0	42.0					19																	33600794		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33600794C>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1457C>G	19.37:g.33600794C>G	ENSP00000170564:p.Ser486Cys						p.S486C	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			11	1771	+	Esophageal squamous(110;0.137)		486					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1457C>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171269	0.38315	.	.	ENSG00000076650	ENST00000170564	T	0.32988	1.43	5.47	4.38	0.52667	.	0.559336	0.20897	N	0.083707	T	0.41789	0.1174	L	0.54323	1.7	0.48571	D	0.99967	D	0.65815	0.995	P	0.52672	0.706	T	0.32161	-0.9917	10	0.56958	D	0.05	-6.5833	14.846	0.70259	0.0:0.856:0.144:0.0	.	486	Q9BRR8	GPTC1_HUMAN	C	486	ENSP00000170564:S486C	ENSP00000170564:S486C	S	+	2	0	GPATCH1	38292634	0.079000	0.21365	0.678000	0.29963	0.109000	0.19521	3.873000	0.56093	2.569000	0.86673	0.655000	0.94253	TCT		0.572	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		6	78	0	0	0	1	0	6	78				
SHANK3	85358	broad.mit.edu	37	22	51117268	51117268	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr22:51117268G>A	ENST00000414786.2	+	5	747	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	SHANK3_ENST00000262795.3_Missense_Mutation_p.A174T|SHANK3_ENST00000445220.2_Missense_Mutation_p.A174T			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	174					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAATGGTGGTGCCCACCTGGA	0.647																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(520-522)Gcc>Acc		SH3 and multiple ankyrin repeat domains 3							40.0	44.0	43.0					22																	51117268		2131	4241	6372	SO:0001583	missense	85358							g.chr22:51117268G>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.520G>A	22.37:g.51117268G>A	ENSP00000464552:p.Ala174Thr					SHANK3_ENST00000262795.3_Missense_Mutation_p.A174T|SHANK3_ENST00000445220.2_Missense_Mutation_p.A174T	p.A174T			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	5	747	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	174					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.520G>A		.	.	.	.	.	.	.	.	.	.	G	15.85	2.954471	0.53293	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.71341	-0.56;-0.56	5.07	4.05	0.47172	.	.	.	.	.	D	0.84556	0.5498	M	0.87381	2.88	0.28693	N	0.904474	D	0.71674	0.998	D	0.71870	0.975	T	0.79057	-0.1959	9	0.87932	D	0	.	11.5898	0.50939	0.0876:0.0:0.9124:0.0	.	174	F2Z3L0	.	T	174	ENSP00000442518:A174T;ENSP00000446078:A174T	ENSP00000442518:A174T	A	+	1	0	SHANK3	49464134	1.000000	0.71417	0.014000	0.15608	0.001000	0.01503	7.681000	0.84073	1.141000	0.42275	-0.224000	0.12420	GCC		0.647	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		4	21	0	0	0	1	0	4	21				
SLC6A17	388662	broad.mit.edu	37	1	110737359	110737359	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:110737359C>T	ENST00000331565.4	+	9	1943	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	486					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGCCCATCATCGACACCTTCA	0.587																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1456-1458)atC>atT		solute carrier family 6 (neutral amino acid transporter), member 17							129.0	99.0	109.0					1																	110737359		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110737359C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1458C>T	1.37:g.110737359C>T						SLC6A17_ENST00000465159.1_3'UTR	p.I486I	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	9	1943	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	486					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.1458C>T	CCDS30799.1																																																																																				0.587	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		13	51	0	0	0	1	0	13	51				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	35	0	0	0	1	0	4	35				
PLPPR4	9890	broad.mit.edu	37	1	99771685	99771685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:99771685C>T	ENST00000370185.3	+	7	1908	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.Q413*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.Q313*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		471					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAGCCTGGGCAGTCACCACC	0.498																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1411-1413)Cag>Tag									80.0	80.0	80.0					1																	99771685		2203	4300	6503	SO:0001587	stop_gained	9890						phosphatidate phosphatase activity	g.chr1:99771685C>T																												ENST00000370185.3:c.1411C>T	1.37:g.99771685C>T	ENSP00000359204:p.Gln471*					LPPR4_ENST00000370184.1_Nonsense_Mutation_p.Q313*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.Q413*	p.Q471*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1908	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	471					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	c.1411C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	41	8.928654	0.99006	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	.	.	.	5.5	5.5	0.81552	.	0.543126	0.20581	N	0.089525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.0347	19.3904	0.94578	0.0:1.0:0.0:0.0	.	.	.	.	X	471;413;471;313	.	.	Q	+	1	0	RP4-788L13.1	99544273	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	7.399000	0.79935	2.575000	0.86900	0.650000	0.86243	CAG		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			25	111	0	0	0	1	0	25	111				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	86	0	0	0	1	0	4	86				
MYO9B	4650	broad.mit.edu	37	19	17212828	17212828	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:17212828C>G	ENST00000594824.1	+	2	448	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	MYO9B_ENST00000397274.2_Missense_Mutation_p.Q101E|MYO9B_ENST00000595618.1_Missense_Mutation_p.Q101E|CTD-2528A14.5_ENST00000597045.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	101	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGAGCACCCTCAGGAGGATGG	0.647																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(301-303)Cag>Gag		myosin IXB							34.0	37.0	36.0					19																	17212828		2039	4194	6233	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212828C>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.301C>G	19.37:g.17212828C>G	ENSP00000471367:p.Gln101Glu					MYO9B_ENST00000397274.2_Missense_Mutation_p.Q101E|MYO9B_ENST00000594824.1_Missense_Mutation_p.Q101E	p.Q101E	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	453	+			101			Myosin head-like.|Ras-associating.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.301C>G		.	.	.	.	.	.	.	.	.	.	C	15.13	2.742831	0.49151	.	.	ENSG00000099331	ENST00000397274	D	0.84442	-1.85	5.39	5.39	0.77823	Ras-association (3);	0.510531	0.16310	N	0.220023	D	0.83147	0.5191	L	0.54323	1.7	0.43637	D	0.996031	B;B;B	0.29955	0.014;0.014;0.263	B;B;B	0.32928	0.027;0.027;0.155	T	0.78398	-0.2219	10	0.13853	T	0.58	.	18.1399	0.89636	0.0:1.0:0.0:0.0	.	101;101;107	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	E	101	ENSP00000380444:Q101E	ENSP00000380444:Q101E	Q	+	1	0	MYO9B	17073828	0.970000	0.33590	0.404000	0.26397	0.790000	0.44656	4.569000	0.60865	2.526000	0.85167	0.655000	0.94253	CAG		0.647	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			21	45	0	0	0	1	0	21	45				
EFS	10278	broad.mit.edu	37	14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:23829056C>T	ENST00000216733.3	-	4	1238	c.631G>A	c.(631-633)Gag>Aag	p.E211K	EFS_ENST00000351354.3_Missense_Mutation_p.E118K|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	211	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(631-633)Gag>Aag		embryonal Fyn-associated substrate							33.0	43.0	39.0					14																	23829056		2148	4178	6326	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829056C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.631G>A	14.37:g.23829056C>T	ENSP00000216733:p.Glu211Lys					EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.E118K	p.E211K	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1238	-	all_cancers(95;7.12e-06)		211			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.631G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195320	0.58017	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.56941	0.43;0.83	5.08	5.08	0.68730	.	0.850395	0.10591	N	0.656746	T	0.67126	0.2860	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.57499	-0.7801	10	0.06757	T	0.87	-12.6649	15.4895	0.75593	0.0:1.0:0.0:0.0	.	118;211	O43281-2;O43281	.;EFS_HUMAN	K	211;118	ENSP00000216733:E211K;ENSP00000340607:E118K	ENSP00000216733:E211K	E	-	1	0	EFS	22898896	0.911000	0.30947	0.951000	0.38953	0.122000	0.20287	2.230000	0.42999	2.653000	0.90120	0.563000	0.77884	GAG		0.617	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			38	114	0	0	0	1	0	38	114				
PAK1IP1	55003	broad.mit.edu	37	6	10704772	10704772	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:10704772G>C	ENST00000379568.3	+	6	820	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	177					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CCCAAGAGGAGAGCAGTATGT	0.323																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(529-531)Gag>Cag		PAK1 interacting protein 1							60.0	59.0	59.0					6																	10704772		2202	4300	6502	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10704772G>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.529G>C	6.37:g.10704772G>C	ENSP00000368887:p.Glu177Gln						p.E177Q	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			6	820	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	177					Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.529G>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741269	0.49151	.	.	ENSG00000111845	ENST00000379568	T	0.34859	1.34	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.144299	0.64402	D	0.000007	T	0.29190	0.0726	M	0.78049	2.395	0.36693	D	0.879705	P	0.36412	0.552	B	0.35607	0.206	T	0.17137	-1.0379	10	0.24483	T	0.36	-14.694	17.2343	0.86994	0.0:0.0:1.0:0.0	.	177	Q9NWT1	PK1IP_HUMAN	Q	177	ENSP00000368887:E177Q	ENSP00000368887:E177Q	E	+	1	0	PAK1IP1	10812758	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.673000	0.74482	2.655000	0.90218	0.655000	0.94253	GAG		0.323	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		6	8	0	0	0	1	0	6	8				
FRG1	2483	broad.mit.edu	37	4	190874243	190874243	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:190874243C>A	ENST00000226798.4	+	4	502	c.280C>A	c.(280-282)Cca>Aca	p.P94T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	94					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CCCTAGTCCTCCAGAGCAGTT	0.279																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(280-282)Cca>Aca		FSHD region gene 1							11.0	11.0	11.0					4																	190874243		2038	4135	6173	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874243C>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.280C>A	4.37:g.190874243C>A	ENSP00000226798:p.Pro94Thr					FRG1_ENST00000514482.1_3'UTR	p.P94T	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	502	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	94					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.280C>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.576635	0.45902	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.42131	2.01;0.98	3.71	3.71	0.42584	Actin cross-linking (1);	0.051440	0.85682	D	0.000000	T	0.41442	0.1159	L	0.52759	1.655	0.80722	D	1	B	0.30236	0.274	B	0.38194	0.267	T	0.27606	-1.0069	10	0.23302	T	0.38	-4.7451	13.8593	0.63550	0.0:1.0:0.0:0.0	.	94	Q14331	FRG1_HUMAN	T	94;31	ENSP00000226798:P94T;ENSP00000435943:P31T	ENSP00000226798:P94T	P	+	1	0	FRG1	191111237	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.060000	0.76692	2.022000	0.59522	0.632000	0.83419	CCA		0.279	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	26	1	0	6.4e-05	1	6.59104e-05	3	26				
CDH3	1001	broad.mit.edu	37	16	68732246	68732246	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:68732246G>C	ENST00000264012.4	+	16	2977	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.E756D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	811					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATCTGAACGAGTGGGGCAGCC	0.632																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2431-2433)gaG>gaC		cadherin 3, type 1, P-cadherin (placental)							95.0	97.0	96.0					16																	68732246		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732246G>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2433G>C	16.37:g.68732246G>C	ENSP00000264012:p.Glu811Asp					CDH3_ENST00000581171.1_Missense_Mutation_p.E756D|CDH3_ENST00000429102.2_3'UTR	p.E811D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	2977	+		Ovarian(137;0.0564)	811					B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2433G>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762721	0.15914	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.74421	-0.84	5.51	3.52	0.40303	Cadherin, cytoplasmic domain (1);	0.000000	0.41823	D	0.000809	T	0.50854	0.1640	N	0.11154	0.105	0.45607	D	0.998542	B	0.24721	0.11	B	0.34873	0.191	T	0.45862	-0.9232	10	0.02654	T	1	.	6.6895	0.23163	0.1663:0.1497:0.6841:0.0	.	811	P22223	CADH3_HUMAN	D	811;756	ENSP00000264012:E811D	ENSP00000264012:E811D	E	+	3	2	CDH3	67289747	0.155000	0.22806	1.000000	0.80357	0.857000	0.48899	-0.482000	0.06544	1.464000	0.47987	0.655000	0.94253	GAG		0.632	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		26	201	0	0	0	1	0	26	201				
RLF	6018	broad.mit.edu	37	1	40703751	40703751	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:40703751C>T	ENST00000372771.4	+	8	3404	c.3377C>T	c.(3376-3378)cCg>cTg	p.P1126L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1126					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCGGCTAAGCCGTTTTTCTGT	0.373																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(3376-3378)cCg>cTg		rearranged L-myc fusion							101.0	107.0	105.0					1																	40703751		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40703751C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3377C>T	1.37:g.40703751C>T	ENSP00000361857:p.Pro1126Leu						p.P1126L	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3404	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1126					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.3377C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885126	0.72410	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.52983	0.64	5.85	5.85	0.93711	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.829	T	0.68044	-0.5513	10	0.72032	D	0.01	-14.0557	20.1653	0.98150	0.0:1.0:0.0:0.0	.	819;1126	F5H2M5;Q13129	.;RLF_HUMAN	L	1126;819	ENSP00000361857:P1126L	ENSP00000361857:P1126L	P	+	2	0	RLF	40476338	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.184000	0.77705	2.768000	0.95171	0.655000	0.94253	CCG		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		47	86	0	0	0	1	0	47	86				
GSPT2	23708	broad.mit.edu	37	X	51487557	51487557	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:51487557G>A	ENST00000340438.4	+	1	1077	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	279	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTTTGAAACAGAAAGGAAACA	0.438																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(835-837)Gaa>Aaa		G1 to S phase transition 2							144.0	136.0	139.0					X																	51487557		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487557G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.835G>A	X.37:g.51487557G>A	ENSP00000341247:p.Glu279Lys						p.E279K	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1077	+	Ovarian(276;0.236)		279					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.835G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481977	0.44147	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.40756	1.02	4.54	3.67	0.42095	Protein synthesis factor, GTP-binding (1);	0.051018	0.85682	D	0.000000	T	0.34687	0.0906	L	0.39397	1.21	0.80722	D	1	P	0.35307	0.494	B	0.36186	0.219	T	0.24476	-1.0159	10	0.56958	D	0.05	-22.8991	11.1041	0.48193	0.0:0.0:0.8142:0.1857	.	279	Q8IYD1	ERF3B_HUMAN	K	279;196	ENSP00000341247:E279K	ENSP00000341247:E279K	E	+	1	0	GSPT2	51504297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.138000	0.77305	1.253000	0.44018	0.592000	0.82586	GAA		0.438	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			23	150	0	0	0	1	0	23	150				
ADD2	119	broad.mit.edu	37	2	70903955	70903955	+	Silent	SNP	G	G	A	rs148402316	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:70903955G>A	ENST00000264436.4	-	13	2010	c.1566C>T	c.(1564-1566)agC>agT	p.S522S	ADD2_ENST00000407644.2_Silent_p.S522S|ADD2_ENST00000430656.1_Silent_p.S538S|ADD2_ENST00000355733.3_Silent_p.S522S|ADD2_ENST00000413157.2_Silent_p.S522S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	522					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGGCAATGACGCTCGCCAGGA	0.602													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1564-1566)agC>agT		adducin 2 (beta)		G	,,,,	11,4395	17.9+/-39.9	1,9,2193	68.0	70.0	69.0		1566,1614,1566,1566,1566	-1.2	0.9	2	dbSNP_134	69	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	,,,,	1,10,6492	AA,AG,GG		0.0116,0.2497,0.0923	,,,,	522/727,538/576,522/727,522/560,522/644	70903955	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903955G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1566C>T	2.37:g.70903955G>A						ADD2_ENST00000355733.3_Silent_p.S522S|ADD2_ENST00000407644.2_Silent_p.S522S|ADD2_ENST00000430656.1_Silent_p.S538S|ADD2_ENST00000413157.2_Silent_p.S522S	p.S522S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	2010	-			522					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.1566C>T	CCDS1906.1																																																																																				0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		26	63	0	0	0	1	0	26	63				
DNAH5	1767	broad.mit.edu	37	5	13719060	13719060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:13719060G>A	ENST00000265104.4	-	72	12534	c.12430C>T	c.(12430-12432)Cag>Tag	p.Q4144*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4144	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGACATCTGAAGGAGTGTA	0.468									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12430-12432)Cag>Tag		dynein, axonemal, heavy chain 5							146.0	143.0	144.0					5																	13719060		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719060G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12430C>T	5.37:g.13719060G>A	ENSP00000265104:p.Gln4144*						p.Q4144*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			72	12534	-	Lung NSC(4;0.00476)		4144			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.12430C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	21.599717	0.99942	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6065	0.95583	0.0:0.0:1.0:0.0	.	.	.	.	X	4144	.	ENSP00000265104:Q4144X	Q	-	1	0	DNAH5	13772060	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	9.698000	0.98700	2.625000	0.88918	0.650000	0.86243	CAG		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	81	0	0	0	1	0	38	81				
EBF3	253738	broad.mit.edu	37	10	131646669	131646669	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:131646669T>C	ENST00000355311.5	-	11	1187	c.1115A>G	c.(1114-1116)gAa>gGa	p.E372G	EBF3_ENST00000368648.3_Missense_Mutation_p.E363G			Q9H4W6	COE3_HUMAN	early B-cell factor 3	372					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTAACCTTTCGGGATCACC	0.537																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1087-1089)gAa>gGa		early B-cell factor 3							148.0	142.0	144.0					10																	131646669		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131646669T>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1115A>G	10.37:g.131646669T>C	ENSP00000347463:p.Glu372Gly					EBF3_ENST00000355311.5_Missense_Mutation_p.E372G	p.E363G	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	11	1160	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	372					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1088A>G		.	.	.	.	.	.	.	.	.	.	T	16.39	3.109545	0.56398	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.47528	0.84;0.84	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.85462	2.755	0.80722	D	1	D	0.57257	0.979	P	0.58721	0.844	T	0.75121	-0.3429	10	0.87932	D	0	-14.1665	16.383	0.83481	0.0:0.0:0.0:1.0	.	363	Q9H4W6-2	.	G	372;363	ENSP00000347463:E372G;ENSP00000357637:E363G	ENSP00000347463:E372G	E	-	2	0	EBF3	131536659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	GAA		0.537	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		4	157	0	0	0	1	0	4	157				
XKR4	114786	broad.mit.edu	37	8	56436091	56436091	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:56436091G>C	ENST00000327381.6	+	3	1358	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	420						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGTCCACTGTGAGACAGAATT	0.473																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1258-1260)Gag>Cag		XK, Kell blood group complex subunit-related family, member 4							268.0	232.0	245.0					8																	56436091		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436091G>C	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1258G>C	8.37:g.56436091G>C	ENSP00000328326:p.Glu420Gln						p.E420Q	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1358	+			420					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1258G>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964068	0.74131	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62941	-0.01	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	L	0.28608	0.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62765	-0.6785	10	0.17369	T	0.5	-22.5992	19.819	0.96583	0.0:0.0:1.0:0.0	.	420	Q5GH76	XKR4_HUMAN	Q	420	ENSP00000328326:E420Q	ENSP00000328326:E420Q	E	+	1	0	XKR4	56598645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	GAG		0.473	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		26	220	0	0	0	1	0	26	220				
SP100	6672	broad.mit.edu	37	2	231379821	231379821	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:231379821G>C	ENST00000264052.5	+	25	2461	c.2106G>C	c.(2104-2106)aaG>aaC	p.K702N	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	702					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGCATAAGAAGAAGAACC	0.368																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2104-2106)aaG>aaC		SP100 nuclear antigen							52.0	54.0	54.0					2																	231379821		2202	4295	6497	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231379821G>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2106G>C	2.37:g.231379821G>C	ENSP00000264052:p.Lys702Asn					SP100_ENST00000340126.4_Intron	p.K702N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2461	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	702					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2106G>C	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531946	0.27387	.	.	ENSG00000067066	ENST00000264052	T	0.21361	2.01	0.158	0.158	0.14942	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.24160	0.0585	M	0.82823	2.61	0.80722	D	1	B	0.27625	0.183	B	0.26517	0.07	T	0.08146	-1.0736	9	0.66056	D	0.02	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	.	702	P23497	SP100_HUMAN	N	702	ENSP00000264052:K702N	ENSP00000264052:K702N	K	+	3	2	SP100	231088065	1.000000	0.71417	0.318000	0.25279	0.319000	0.28217	4.764000	0.62264	0.202000	0.20498	0.205000	0.17691	AAG		0.368	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		26	39	0	0	0	1	0	26	39				
EIF2B5	8893	broad.mit.edu	37	3	183858347	183858347	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183858347G>A	ENST00000273783.3	+	7	1107	c.985G>A	c.(985-987)Gac>Aac	p.D329N	EIF2B5_ENST00000444495.1_Missense_Mutation_p.D329N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	329					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAACTTCACTGACAGCACCAC	0.577																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(985-987)Gac>Aac		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							195.0	178.0	184.0					3																	183858347		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183858347G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.985G>A	3.37:g.183858347G>A	ENSP00000273783:p.Asp329Asn					EIF2B5_ENST00000444495.1_Missense_Mutation_p.D329N	p.D329N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1107	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		329					Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.985G>A	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.428234	0.83667	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.94138	-3.36;-3.36	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	M	0.76002	2.32	0.80722	D	1	P;P	0.47106	0.514;0.89	B;B	0.40901	0.199;0.343	D	0.90979	0.4826	10	0.17369	T	0.5	.	20.0563	0.97651	0.0:0.0:1.0:0.0	.	329;329	E9PC74;Q13144	.;EI2BE_HUMAN	N	329;329;85	ENSP00000273783:D329N;ENSP00000409142:D329N	ENSP00000273783:D329N	D	+	1	0	EIF2B5	185341041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.746000	0.94184	0.563000	0.77884	GAC		0.577	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			29	263	0	0	0	1	0	29	263				
DCP2	167227	broad.mit.edu	37	5	112337274	112337274	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr5:112337274G>C	ENST00000389063.2	+	7	907	c.709G>C	c.(709-711)Gac>Cac	p.D237H	DCP2_ENST00000515408.1_Missense_Mutation_p.D237H|DCP2_ENST00000543319.1_Missense_Mutation_p.D26H	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACCATTAAGGGACTGGCTTTC	0.403																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(709-711)Gac>Cac		decapping mRNA 2							185.0	200.0	195.0					5																	112337274		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112337274G>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.709G>C	5.37:g.112337274G>C	ENSP00000373715:p.Asp237His					DCP2_ENST00000515408.1_Missense_Mutation_p.D237H|DCP2_ENST00000543319.1_Missense_Mutation_p.D26H	p.D237H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	7	907	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	237					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.709G>C	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.90|15.90	2.969168|2.969168	0.53614|0.53614	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.46451|.	0.91;0.87|.	6.06|6.06	5.18|5.18	0.71444|0.71444	.|.	0.233772|.	0.51477|.	D|.	0.000089|.	T|T	0.49098|0.49098	0.1537|0.1537	N|N	0.14661|0.14661	0.345|0.345	0.48135|0.48135	D|D	0.999599|0.999599	D;D|.	0.65815|.	0.994;0.995|.	P;P|.	0.60473|.	0.875;0.754|.	T|T	0.44892|0.44892	-0.9298|-0.9298	10|5	0.36615|.	T|.	0.2|.	-10.945|-10.945	16.8091|16.8091	0.85713|0.85713	0.0:0.0:0.8702:0.1298|0.0:0.0:0.8702:0.1298	.|.	237;237|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	H|A	237;237;26|218	ENSP00000425770:D237H;ENSP00000373715:D237H|.	ENSP00000373715:D237H|.	D|G	+|+	1|2	0|0	DCP2|DCP2	112365173|112365173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	8.409000|8.409000	0.90223|0.90223	1.553000|1.553000	0.49476|0.49476	0.643000|0.643000	0.83706|0.83706	GAC|GGA		0.403	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		32	216	0	0	0	1	0	32	216				
HIST1H2AM	8336	broad.mit.edu	37	6	27860654	27860654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:27860654C>A	ENST00000359611.2	-	1	309	c.274G>T	c.(274-276)Gag>Tag	p.E92*	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	92						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TTGAGCTCCTCGTCGTTGCGG	0.597																																						ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(274-276)Gag>Tag		histone cluster 1, H2am							143.0	141.0	142.0					6																	27860654		2203	4300	6503	SO:0001587	stop_gained	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860654C>A	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.274G>T	6.37:g.27860654C>A	ENSP00000352627:p.Glu92*					HIST1H3J_ENST00000479986.1_5'UTR	p.E92*	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	309	-			92					P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	ENST00000359611.2	37	c.274G>T	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113685	0.94339	.	.	ENSG00000233224	ENST00000359611	.	.	.	4.06	4.06	0.47325	.	0.000000	0.30483	U	0.009535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.02	0.80473	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000352627:E92X	E	-	1	0	HIST1H2AM	27968633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.545000	0.85829	0.655000	0.94253	GAG		0.597	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		14	268	1	0	4.93089e-13	1	5.35798e-13	14	268				
HGFAC	3083	broad.mit.edu	37	4	3446393	3446393	+	Silent	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:3446393G>C	ENST00000382774.3	+	7	889	c.774G>C	c.(772-774)ctG>ctC	p.L258L	HGFAC_ENST00000511533.1_Silent_p.L258L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	258	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGCCACCTGATCGTGGCCA	0.721																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(772-774)ctG>ctC		HGF activator							16.0	17.0	17.0					4																	3446393		2187	4284	6471	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446393G>C	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.774G>C	4.37:g.3446393G>C						HGFAC_ENST00000511533.1_Silent_p.L258L	p.L258L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	889	+			258			EGF-like 2.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.774G>C	CCDS3369.1																																																																																				0.721	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			4	9	0	0	0	1	0	4	9				
COL11A1	1301	broad.mit.edu	37	1	103461562	103461562	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:103461562C>T	ENST00000370096.3	-	27	2590	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	COL11A1_ENST00000358392.2_Missense_Mutation_p.G772S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G644S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G721S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	760	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCCGGGGGCCCGGGTATCCA	0.368																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2314-2316)Ggc>Agc		collagen, type XI, alpha 1							39.0	45.0	43.0					1																	103461562		2197	4295	6492	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103461562C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2278G>A	1.37:g.103461562C>T	ENSP00000359114:p.Gly760Ser					COL11A1_ENST00000370096.3_Missense_Mutation_p.G760S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G644S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G721S	p.G772S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	27	2631	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	760			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2314G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408444	0.83340	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.71	4.79	0.61399	.	0.052019	0.85682	D	0.000000	D	0.99775	0.9907	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.992;0.986	D;P;P;P	0.97110	1.0;0.891;0.891;0.78	D	0.96807	0.9594	10	0.87932	D	0	.	16.8272	0.85934	0.0:0.8714:0.1286:0.0	.	644;721;772;760	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	760;772;721;644	ENSP00000359114:G760S;ENSP00000351163:G772S;ENSP00000302551:G721S;ENSP00000426533:G644S	ENSP00000302551:G721S	G	-	1	0	COL11A1	103234150	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	7.172000	0.77604	1.400000	0.46741	-0.165000	0.13383	GGC		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	68	0	0	0	1	0	15	68				
SETD6	79918	broad.mit.edu	37	16	58552696	58552696	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr16:58552696G>T	ENST00000219315.4	+	8	1235	c.1185G>T	c.(1183-1185)agG>agT	p.R395S	SETD6_ENST00000310682.2_Missense_Mutation_p.R371S|SETD6_ENST00000394266.4_Missense_Mutation_p.R326S			Q8TBK2	SETD6_HUMAN	SET domain containing 6	395					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						ATGATAAAAGGGAAGAGGGCA	0.473																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(976-978)agG>agT		SET domain containing 6							111.0	110.0	110.0					16																	58552696		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552696G>T	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.1185G>T	16.37:g.58552696G>T	ENSP00000219315:p.Arg395Ser					SETD6_ENST00000219315.4_Missense_Mutation_p.R395S|SETD6_ENST00000310682.2_Missense_Mutation_p.R371S	p.R326S			Q8TBK2	SETD6_HUMAN			9	1034	+			395					A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.978G>T	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	1.347	-0.592511	0.03799	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315;ENST00000447443	T;T;T;T	0.43294	1.39;1.39;1.39;0.95	5.26	-4.42	0.03579	Rubisco LS methyltransferase, substrate-binding domain (2);	1.822320	0.02685	N	0.110035	T	0.15435	0.0372	N	0.04508	-0.205	0.09310	N	0.999999	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.12993	-1.0526	10	0.09084	T	0.74	0.2741	1.744	0.02958	0.1406:0.2345:0.2677:0.3572	.	395;371	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	S	371;326;395;157	ENSP00000310082:R371S;ENSP00000377809:R326S;ENSP00000219315:R395S;ENSP00000396437:R157S	ENSP00000219315:R395S	R	+	3	2	SETD6	57110197	0.698000	0.27777	0.029000	0.17559	0.297000	0.27493	-0.049000	0.11924	-0.299000	0.08909	-0.136000	0.14681	AGG		0.473	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		18	51	1	0	3.41278e-10	1	3.65088e-10	18	51				
WLS	79971	broad.mit.edu	37	1	68620827	68620827	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:68620827C>T	ENST00000262348.4	-	4	874	c.621G>A	c.(619-621)aaG>aaA	p.K207K	WLS_ENST00000540432.1_Silent_p.K207K|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000370976.3_Silent_p.K116K|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.K205K	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	207	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CATTGATTTTCTTCTTCTCAT	0.423																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(619-621)aaG>aaA		wntless Wnt ligand secretion mediator							255.0	234.0	241.0					1																	68620827		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68620827C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.621G>A	1.37:g.68620827C>T						WLS_ENST00000354777.2_Silent_p.K205K|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.K207K|WLS_ENST00000370976.3_Silent_p.K116K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	p.K207K	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			4	874	-			207			Interacts with Wnt proteins (By similarity).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.621G>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271112	0.23221	.	.	ENSG00000116729	ENST00000534713	.	.	.	5.87	4.96	0.65561	.	.	.	.	.	T	0.61739	0.2371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63129	-0.6706	4	.	.	.	-15.4915	14.9288	0.70900	0.0:0.9314:0.0:0.0686	.	.	.	.	K	110	.	.	R	-	2	0	WLS	68393415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.362000	0.44169	1.489000	0.48450	0.551000	0.68910	AGA		0.423	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		36	123	0	0	0	1	0	36	123				
USP51	158880	broad.mit.edu	37	X	55513641	55513641	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:55513641C>T	ENST00000500968.3	-	2	1814	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	578	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGTAGACTCCTGGTAGCTT	0.433																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1732-1734)Gag>Aag		ubiquitin specific peptidase 51							64.0	55.0	58.0					X																	55513641		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513641C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1732G>A	X.37:g.55513641C>T	ENSP00000423333:p.Glu578Lys					USP51_ENST00000586165.1_5'UTR	p.E578K	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	1814	-			578					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1732G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	14.90	2.673077	0.47781	.	.	ENSG00000247746	ENST00000500968	T	0.02812	4.15	2.96	2.09	0.27110	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.111809	0.64402	N	0.000015	T	0.08088	0.0202	L	0.55017	1.72	0.58432	D	0.999999	D	0.69078	0.997	D	0.74674	0.984	T	0.36529	-0.9744	10	0.27785	T	0.31	.	7.1641	0.25681	0.0:0.8532:0.0:0.1468	.	578	Q70EK9	UBP51_HUMAN	K	578	ENSP00000423333:E578K	ENSP00000423333:E578K	E	-	1	0	USP51	55530366	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	3.876000	0.56115	0.651000	0.30788	0.455000	0.32223	GAG		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		13	36	0	0	0	1	0	13	36				
HSPA5	3309	broad.mit.edu	37	9	128002577	128002577	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:128002577C>G	ENST00000324460.6	-	3	569	c.366G>C	c.(364-366)aaG>aaC	p.K122N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	122					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GTTTAGTTTTCTTTTCAACCA	0.338										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(364-366)aaG>aaC		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						78.0	73.0	75.0					9																	128002577		2203	4299	6502	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128002577C>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.366G>C	9.37:g.128002577C>G	ENSP00000324173:p.Lys122Asn	Prostate(1;0.17)					p.K122N	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			3	569	-			122					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.366G>C	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338950	0.81911	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.01034	5.42	4.83	4.83	0.62350	.	0.093472	0.64402	D	0.000001	T	0.02929	0.0087	L	0.48877	1.53	0.80722	D	1	D	0.59767	0.986	P	0.56474	0.799	T	0.59643	-0.7416	10	0.66056	D	0.02	-24.0941	16.9212	0.86165	0.0:1.0:0.0:0.0	.	122	P11021	GRP78_HUMAN	N	122	ENSP00000324173:K122N	ENSP00000324173:K122N	K	-	3	2	HSPA5	127042398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.928000	0.63447	2.227000	0.72691	0.555000	0.69702	AAG		0.338	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			6	36	0	0	0	1	0	6	36				
KRT80	144501	broad.mit.edu	37	12	52565209	52565209	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr12:52565209G>A	ENST00000394815.2	-	9	1429	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	444	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ACTCCTGCGAGAAGTACTTCT	0.572																																					GBM(178;2309 2916 15678 35873)	ENST00000394815.2																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1330-1332)ttC>ttT		keratin 80							75.0	76.0	76.0					12																	52565209		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52565209G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1332C>T	12.37:g.52565209G>A						KRT80_ENST00000313234.5_3'UTR	p.F444F	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	9	1429	-			444			Tail.		Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.1332C>T	CCDS8821.2																																																																																				0.572	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		27	70	0	0	0	1	0	27	70				
AGBL2	79841	broad.mit.edu	37	11	47721085	47721085	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr11:47721085C>G	ENST00000525123.1	-	8	892	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.E203Q|AGBL2_ENST00000528244.1_Missense_Mutation_p.E165Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.E203Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	203						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAGAAATATTCTGGTTGAGGT	0.313																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(607-609)Gaa>Caa		ATP/GTP binding protein-like 2							133.0	129.0	130.0					11																	47721085		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47721085C>G		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.607G>C	11.37:g.47721085C>G	ENSP00000435582:p.Glu203Gln					AGBL2_ENST00000357610.3_Missense_Mutation_p.E203Q|AGBL2_ENST00000298861.4_Missense_Mutation_p.E203Q|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E165Q	p.E203Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			8	892	-			203					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.607G>C	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598869	0.87055	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	5.12	5.12	0.69794	.	0.051206	0.85682	D	0.000000	T	0.77184	0.4093	M	0.87180	2.865	0.45676	D	0.998591	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.98;0.987	T	0.81792	-0.0770	10	0.72032	D	0.01	-29.4354	18.6199	0.91317	0.0:1.0:0.0:0.0	.	165;165;203	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Q	203;203;203;165;147;147;145	ENSP00000435582:E203Q;ENSP00000350228:E203Q;ENSP00000298861:E203Q;ENSP00000436630:E165Q;ENSP00000436063:E147Q;ENSP00000432264:E145Q	ENSP00000298861:E203Q	E	-	1	0	AGBL2	47677661	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.445000	0.73456	2.396000	0.81511	0.393000	0.25936	GAA		0.313	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		5	64	0	0	0	1	0	5	64				
RBM25	58517	broad.mit.edu	37	14	73572952	73572952	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:73572952G>C	ENST00000261973.7	+	12	1711	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	RBM25_ENST00000527432.1_Missense_Mutation_p.E476Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	476	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCGGGAATATGAGAAAGAAGC	0.299																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1426-1428)Gag>Cag		RNA binding motif protein 25							31.0	35.0	33.0					14																	73572952		2172	4266	6438	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572952G>C	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1426G>C	14.37:g.73572952G>C	ENSP00000261973:p.Glu476Gln					RBM25_ENST00000527432.1_Missense_Mutation_p.E476Q	p.E476Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	12	1711	+			476			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1426G>C	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969956	0.53614	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.29397	1.57;1.57	5.98	5.98	0.97165	.	0.259072	0.45867	D	0.000326	T	0.29223	0.0727	L	0.51422	1.61	0.80722	D	1	P	0.37466	0.596	B	0.26864	0.074	T	0.05273	-1.0895	10	0.48119	T	0.1	.	19.4174	0.94706	0.0:0.0:1.0:0.0	.	476	P49756	RBM25_HUMAN	Q	476	ENSP00000261973:E476Q;ENSP00000431150:E476Q	ENSP00000261973:E476Q	E	+	1	0	RBM25	72642705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.358000	0.52284	2.839000	0.97877	0.650000	0.86243	GAG		0.299	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		5	40	0	0	0	1	0	5	40				
ESRRB	2103	broad.mit.edu	37	14	76905771	76905771	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:76905771G>A	ENST00000509242.1	+	3	173	c.75G>A	c.(73-75)tcG>tcA	p.S25S	ESRRB_ENST00000556177.1_Silent_p.S25S|ESRRB_ENST00000261532.7_Silent_p.S25S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_Silent_p.S25S	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	25					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCCCGTCCTCGGGCATCGATG	0.672																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(73-75)tcG>tcA		estrogen-related receptor beta							30.0	33.0	32.0					14																	76905771		2190	4282	6472	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905771G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.75G>A	14.37:g.76905771G>A						ESRRB_ENST00000261532.7_Silent_p.S25S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.S25S|ESRRB_ENST00000556177.1_Silent_p.S25S	p.S25S			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	147	+			25					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.75G>A	CCDS9850.2																																																																																				0.672	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			4	137	0	0	0	1	0	4	137				
TSNARE1	203062	broad.mit.edu	37	8	143425798	143425798	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:143425798C>T	ENST00000307180.3	-	4	391	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TSNARE1_ENST00000520166.1_Missense_Mutation_p.E92K|TSNARE1_ENST00000524325.1_Missense_Mutation_p.E92K|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	92					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAGGTGGGCTCCGGCATCCGG	0.692																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(274-276)Gag>Aag		t-SNARE domain containing 1							7.0	8.0	8.0					8																	143425798		2066	4201	6267	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425798C>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.274G>A	8.37:g.143425798C>T	ENSP00000303437:p.Glu92Lys					TSNARE1_ENST00000520166.1_Missense_Mutation_p.E92K|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Missense_Mutation_p.E92K	p.E92K			Q96NA8	TSNA1_HUMAN			4	449	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		92					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.274G>A	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383633	0.42308	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.32515	2.58;2.58;2.58;1.5;1.45	3.16	3.16	0.36331	.	0.303063	0.18121	U	0.151045	T	0.21509	0.0518	L	0.27053	0.805	0.09310	N	0.999995	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.34873	0.191;0.191;0.191	T	0.15549	-1.0433	10	0.87932	D	0	.	12.1022	0.53792	0.0:1.0:0.0:0.0	.	92;92;92	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	K	92;92;92;92;108	ENSP00000428763:E92K;ENSP00000303437:E92K;ENSP00000427770:E92K;ENSP00000429626:E92K;ENSP00000430789:E108K	ENSP00000303437:E92K	E	-	1	0	TSNARE1	143423705	0.001000	0.12720	0.056000	0.19401	0.829000	0.46940	0.655000	0.24933	1.454000	0.47793	0.514000	0.50259	GAG		0.692	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		5	11	0	0	0	1	0	5	11				
EPS15L1	58513	broad.mit.edu	37	19	16536088	16536088	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:16536088C>T	ENST00000248070.6	-	9	737	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000602009.1_Missense_Mutation_p.V46M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V200M	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	200	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCGGAGGGCACGGGCTCCTTC	0.652																																						ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(136-138)Gtg>Atg		epidermal growth factor receptor pathway substrate 15-like 1							22.0	21.0	22.0					19																	16536088		2203	4293	6496	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16536088C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.598G>A	19.37:g.16536088C>T	ENSP00000248070:p.Val200Met					EPS15L1_ENST00000248070.6_Missense_Mutation_p.V200M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V200M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V200M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V200M	p.V46M			Q9UBC2	EP15R_HUMAN			3	1031	-			200			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.136G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277725	0.59758	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.39592	1.07;1.07;1.07	4.91	4.91	0.64330	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79108	0.981;0.991;0.988;0.988;0.992;0.987	T	0.66192	-0.5985	10	0.54805	T	0.06	.	17.2637	0.87079	0.0:1.0:0.0:0.0	.	200;200;199;200;200;200	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	M	200	ENSP00000393313:V200M;ENSP00000248070:V200M;ENSP00000440103:V200M	ENSP00000248070:V200M	V	-	1	0	EPS15L1	16397088	1.000000	0.71417	0.937000	0.37676	0.021000	0.10359	4.686000	0.61700	2.557000	0.86248	0.655000	0.94253	GTG		0.652	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		3	19	0	0	0	1	0	3	19				
CDK5	1020	broad.mit.edu	37	7	150752371	150752371	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:150752371G>A	ENST00000485972.1	-	8	1254	c.573C>T	c.(571-573)atC>atT	p.I191I	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Silent_p.I159I	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CACCTGCAAAGATGCAGCCGG	0.592																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(571-573)atC>atT		cyclin-dependent kinase 5							55.0	60.0	58.0					7																	150752371		2052	4189	6241	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150752371G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.573C>T	7.37:g.150752371G>A						CDK5_ENST00000297518.4_Silent_p.I159I	p.I191I	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	8	1254	-		Breast(660;0.159)|Ovarian(593;0.182)	191			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.573C>T	CCDS47748.1																																																																																				0.592	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			15	46	0	0	0	1	0	15	46				
PYGL	5836	broad.mit.edu	37	14	51381517	51381517	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr14:51381517C>T	ENST00000216392.7	-	12	1752	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PYGL_ENST00000544180.2_Missense_Mutation_p.E440K|PYGL_ENST00000532462.1_Missense_Mutation_p.E474K|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	474					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTTCTAGCTCACTGAAGTCC	0.483																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1420-1422)Gag>Aag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						142.0	123.0	130.0					14																	51381517		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51381517C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1420G>A	14.37:g.51381517C>T	ENSP00000216392:p.Glu474Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.E440K|PYGL_ENST00000532462.1_Missense_Mutation_p.E474K	p.E474K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			12	1752	-	all_epithelial(31;0.00825)|Breast(41;0.148)		474					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1420G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320706	0.81469	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93366	-3.09;-3.09;-3.21	5.78	4.83	0.62350	.	0.228496	0.52532	D	0.000070	D	0.94860	0.8339	L	0.58354	1.805	0.54753	D	0.999988	P;P;P	0.50156	0.932;0.861;0.863	P;P;P	0.59825	0.856;0.864;0.604	D	0.93277	0.6657	10	0.35671	T	0.21	-1.8755	15.7595	0.78067	0.0:0.8637:0.1362:0.0	.	440;440;474	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	K	474;440;474	ENSP00000431657:E474K;ENSP00000443787:E440K;ENSP00000216392:E474K	ENSP00000216392:E474K	E	-	1	0	PYGL	50451267	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.886000	0.63149	2.894000	0.99253	0.655000	0.94253	GAG		0.483	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		24	60	0	0	0	1	0	24	60				
DNAH9	1770	broad.mit.edu	37	17	11536006	11536006	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:11536006G>C	ENST00000262442.4	+	8	1689	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E541Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	541	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTGGCTTGGAGCATGCCTT	0.463																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1621-1623)Gag>Cag		dynein, axonemal, heavy chain 9							114.0	110.0	111.0					17																	11536006		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11536006G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1621G>C	17.37:g.11536006G>C	ENSP00000262442:p.Glu541Gln					DNAH9_ENST00000454412.2_Missense_Mutation_p.E541Q	p.E541Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	8	1689	+		Breast(5;0.0122)|all_epithelial(5;0.131)	541			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1621G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181175	0.57800	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.58210	0.35;0.35	5.18	5.18	0.71444	Dynein heavy chain, domain-1 (1);	0.132989	0.25305	U	0.031621	T	0.74512	0.3726	M	0.86343	2.81	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	T	0.75243	-0.3386	10	0.33141	T	0.24	.	15.6299	0.76899	0.0:0.0:1.0:0.0	.	541	Q9NYC9	DYH9_HUMAN	Q	541	ENSP00000262442:E541Q;ENSP00000414874:E541Q	ENSP00000262442:E541Q	E	+	1	0	DNAH9	11476731	1.000000	0.71417	0.964000	0.40570	0.597000	0.36814	7.402000	0.79972	2.427000	0.82271	0.650000	0.86243	GAG		0.463	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	111	0	0	0	1	0	8	111				
UCKL1	54963	broad.mit.edu	37	20	62577836	62577836	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62577836C>T	ENST00000354216.6	-	2	316	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	UCKL1_ENST00000369892.3_Missense_Mutation_p.G92S|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Missense_Mutation_p.G92S|UCKL1_ENST00000369908.5_Missense_Mutation_p.G77S	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	92					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GATTGCGTGCCGTGTTCATTG	0.667																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(229-231)Ggc>Agc		uridine-cytidine kinase 1-like 1							53.0	46.0	48.0					20																	62577836		2196	4294	6490	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577836C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.274G>A	20.37:g.62577836C>T	ENSP00000346155:p.Gly92Ser					UCKL1_ENST00000354216.6_Missense_Mutation_p.G92S|UCKL1_ENST00000358711.3_Missense_Mutation_p.G92S|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.G92S	p.G77S	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			2	528	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		92					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.229G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831105	0.71258	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908;ENST00000418992	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.78916	2.43	0.80722	D	1	D;P	0.89917	1.0;0.644	D;B	0.97110	1.0;0.195	T	0.82141	-0.0604	9	0.62326	D	0.03	-44.2628	15.4917	0.75611	0.0:1.0:0.0:0.0	.	77;92	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	S	92;92;92;77;77	.	ENSP00000346155:G92S	G	-	1	0	UCKL1	62048280	1.000000	0.71417	0.566000	0.28421	0.007000	0.05969	7.328000	0.79160	2.063000	0.61619	0.313000	0.20887	GGC		0.667	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		7	19	0	0	0	1	0	7	19				
MUC16	94025	broad.mit.edu	37	19	9075892	9075892	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:9075892T>C	ENST00000397910.4	-	3	11757	c.11554A>G	c.(11554-11556)Aga>Gga	p.R3852G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	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						TGCCCTTGTCTCTGAAAAGTT	0.493																																						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.(11554-11556)Aga>Gga		mucin 16, cell surface associated							167.0	148.0	154.0					19																	9075892		2027	4188	6215	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075892T>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.11554A>G	19.37:g.9075892T>C	ENSP00000381008:p.Arg3852Gly						p.R3852G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11757	-			3853			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11554A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.164	-0.171497	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.67	-0.657	0.11432	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	8	0.87932	D	0	.	4.0236	0.09677	0.0:0.5584:0.0:0.4416	.	3852	B5ME49	.	G	3852	ENSP00000381008:R3852G	ENSP00000381008:R3852G	R	-	1	2	MUC16	8936892	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.191000	0.17076	-0.111000	0.12001	0.172000	0.16884	AGA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	58	0	0	0	1	0	17	58				
MAGEB6	158809	broad.mit.edu	37	X	26212747	26212747	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chrX:26212747T>C	ENST00000379034.1	+	2	933	c.784T>C	c.(784-786)Tac>Cac	p.Y262H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGGCGAGTCCTACACCCTTGT	0.527																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(784-786)Tac>Cac		melanoma antigen family B, 6							86.0	72.0	77.0					X																	26212747		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212747T>C	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.784T>C	X.37:g.26212747T>C	ENSP00000368320:p.Tyr262His						p.Y262H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	933	+			262			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.784T>C	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468110	0.43839	.	.	ENSG00000176746	ENST00000379034	T	0.14266	2.52	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000001	T	0.48040	0.1478	H	0.97918	4.105	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49312	-0.8953	10	0.87932	D	0	.	7.0432	0.25031	0.0:0.0:0.0:1.0	.	262	Q8N7X4	MAGB6_HUMAN	H	262	ENSP00000368320:Y262H	ENSP00000368320:Y262H	Y	+	1	0	MAGEB6	26122668	0.314000	0.24563	0.006000	0.13384	0.063000	0.16089	2.804000	0.47931	1.469000	0.48083	0.481000	0.45027	TAC		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		4	138	0	0	0	1	0	4	138				
KLF17	128209	broad.mit.edu	37	1	44595173	44595173	+	Missense_Mutation	SNP	C	C	T	rs144146386		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:44595173C>T	ENST00000372299.3	+	2	288	c.230C>T	c.(229-231)gCg>gTg	p.A77V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	77					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCTGTTGAGGCGCCGGGGCAG	0.587																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(229-231)gCg>gTg		Kruppel-like factor 17		C	VAL/ALA	0,4406		0,0,2203	64.0	61.0	62.0		230	-1.9	0.0	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLF17	NM_173484.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	77/390	44595173	1,13005	2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595173C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.230C>T	1.37:g.44595173C>T	ENSP00000361373:p.Ala77Val					KLF17_ENST00000476802.1_3'UTR	p.A77V	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	288	+	Acute lymphoblastic leukemia(166;0.155)		77					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.230C>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131632	0.56828	0.0	1.16E-4	ENSG00000171872	ENST00000372299	T	0.09817	2.94	4.31	-1.86	0.07760	.	0.943276	0.08809	N	0.890628	T	0.05593	0.0147	L	0.32530	0.975	0.09310	N	1	P	0.38597	0.639	B	0.22152	0.038	T	0.31586	-0.9938	10	0.49607	T	0.09	.	4.6444	0.12565	0.5368:0.2788:0.0:0.1845	.	77	Q5JT82	KLF17_HUMAN	V	77	ENSP00000361373:A77V	ENSP00000361373:A77V	A	+	2	0	KLF17	44367760	0.003000	0.15002	0.000000	0.03702	0.014000	0.08584	-0.222000	0.09190	-0.312000	0.08741	-0.157000	0.13467	GCG		0.587	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		25	64	0	0	0	1	0	25	64				
OPRL1	4987	broad.mit.edu	37	20	62729928	62729928	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr20:62729928G>T	ENST00000349451.3	+	6	1301	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	OPRL1_ENST00000355631.4_Missense_Mutation_p.A297S|OPRL1_ENST00000336866.2_Missense_Mutation_p.A297S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	297					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CAGCGAGACTGCCGTGGCCAT	0.632																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(889-891)Gcc>Tcc		opiate receptor-like 1							81.0	68.0	72.0					20																	62729928		2201	4296	6497	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729928G>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.889G>T	20.37:g.62729928G>T	ENSP00000336764:p.Ala297Ser					OPRL1_ENST00000336866.2_Missense_Mutation_p.A297S|OPRL1_ENST00000355631.4_Missense_Mutation_p.A297S	p.A297S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1301	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		297					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.889G>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	2.775	-0.254886	0.05829	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.35789	1.29;1.29;1.29	5.05	0.949	0.19566	GPCR, rhodopsin-like superfamily (1);	0.468250	0.24458	N	0.038343	T	0.16896	0.0406	N	0.13140	0.3	0.09310	N	1	B;B	0.24426	0.103;0.001	B;B	0.25140	0.058;0.008	T	0.30327	-0.9982	10	0.09084	T	0.74	.	8.3422	0.32249	0.4755:0.0:0.5245:0.0	.	292;297	P41146-2;P41146	.;OPRX_HUMAN	S	297	ENSP00000336843:A297S;ENSP00000347848:A297S;ENSP00000336764:A297S	ENSP00000336843:A297S	A	+	1	0	OPRL1	62200372	0.929000	0.31497	0.001000	0.08648	0.578000	0.36192	1.964000	0.40462	0.183000	0.20059	0.500000	0.49745	GCC		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		23	58	1	0	3.62473e-10	1	3.86265e-10	23	58				
VPS13D	55187	broad.mit.edu	37	1	12328839	12328839	+	Silent	SNP	C	C	G			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr1:12328839C>G	ENST00000358136.3	+	16	2008	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L	VPS13D_ENST00000356315.4_Silent_p.L626L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGGCGGCTCAATGTCAGCA	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(1876-1878)ctC>ctG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							126.0	131.0	129.0					1																	12328839		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12328839C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1878C>G	1.37:g.12328839C>G						VPS13D_ENST00000356315.4_Silent_p.L626L	p.L626L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	16	2008	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	626						Silent	SNP	ENST00000358136.3	37	c.1878C>G	CCDS30588.1																																																																																				0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		17	204	0	0	0	1	0	17	204				
MB21D1	115004	broad.mit.edu	37	6	74161325	74161325	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:74161325G>A	ENST00000370315.3	-	1	674	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	MB21D1_ENST00000370318.1_Silent_p.L194L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	194	DNA-binding. {ECO:0000305|PubMed:23707061}.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						AGTCTGAGCAGCAGGTGGTCC	0.627																																						ENST00000370315.3																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(580-582)Ctg>Ttg		Mab-21 domain containing 1							28.0	28.0	28.0					6																	74161325		2203	4300	6503	SO:0001819	synonymous_variant	115004							g.chr6:74161325G>A	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.580C>T	6.37:g.74161325G>A						MB21D1_ENST00000370318.1_Silent_p.L194L	p.L194L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			1	674	-			194					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.580C>T	CCDS4978.1																																																																																				0.627	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		21	37	0	0	0	1	0	21	37				
UGT1A6	54578	broad.mit.edu	37	2	234601679	234601679	+	Missense_Mutation	SNP	G	G	T	rs377223787		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr2:234601679G>T	ENST00000305139.6	+	1	168	c.29G>T	c.(28-30)aGa>aTa	p.R10I	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	10					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCATTTCAGAGAATTTCTGCA	0.473																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(28-30)aGa>aTa									47.0	51.0	49.0					2																	234601679		2203	4300	6503	SO:0001583	missense	54578							g.chr2:234601679G>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.29G>T	2.37:g.234601679G>T	ENSP00000303174:p.Arg10Ile					UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	p.R10I	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	168	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.29G>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759066	0.31137	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.58797	1.61;0.31	4.67	0.467	0.16721	.	.	.	.	.	T	0.39226	0.1070	L	0.37630	1.12	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.26087	-1.0113	9	0.36615	T	0.2	.	1.0438	0.01565	0.2645:0.2826:0.3082:0.1447	.	10;10	B8K289;P19224	.;UD16_HUMAN	I	10	ENSP00000389637:R10I;ENSP00000303174:R10I	ENSP00000303174:R10I	R	+	2	0	UGT1A6	234266418	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.952000	0.29149	-0.031000	0.13781	0.655000	0.94253	AGA		0.473	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		5	60	1	0	0.184627	1	0.185299	5	60				
GLP2R	9340	broad.mit.edu	37	17	9774114	9774114	+	Silent	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr17:9774114C>T	ENST00000262441.5	+	10	1620	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TTTCTAAGCTCAAAGCTCATC	0.398																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1105-1107)ctC>ctT		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						164.0	176.0	172.0					17																	9774114		2203	4299	6502	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9774114C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1107C>T	17.37:g.9774114C>T						GLP2R_ENST00000574745.1_Silent_p.L189L	p.L369L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			10	1620	+			369					Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1107C>T	CCDS11150.1																																																																																				0.398	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			9	187	0	0	0	1	0	9	187				
NCOA4	8031	broad.mit.edu	37	10	51581333	51581333	+	Silent	SNP	T	T	C	rs199573129		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:51581333T>C	ENST00000443446.1	+	5	664	c.435T>C	c.(433-435)atT>atC	p.I145I	NCOA4_ENST00000344348.6_Silent_p.I145I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000430396.2_Silent_p.I45I|NCOA4_ENST00000438493.1_Silent_p.I161I|NCOA4_ENST00000374082.1_Silent_p.I145I|NCOA4_ENST00000452682.1_Silent_p.I161I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Silent_p.I145I	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	145					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTGACACAATTACTCTGCGCC	0.438			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(481-483)atT>atC		nuclear receptor coactivator 4							96.0	88.0	91.0					10																	51581333		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51581333T>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.435T>C	10.37:g.51581333T>C						NCOA4_ENST00000438493.1_Silent_p.I161I|NCOA4_ENST00000443446.1_Silent_p.I145I|NCOA4_ENST00000374087.4_Silent_p.I145I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000374082.1_Silent_p.I145I|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.I145I|NCOA4_ENST00000430396.2_Silent_p.I45I	p.I161I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			6	735	+			145					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.483T>C	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	T	2.367	-0.345187	0.05208	.	.	ENSG00000138293	ENST00000431200	.	.	.	5.73	-0.768	0.11013	.	.	.	.	.	T	0.18964	0.0455	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	-17.0959	0.9783	0.01430	0.2202:0.2688:0.1133:0.3977	.	.	.	.	H	61	.	.	Y	+	1	0	NCOA4	51251339	0.002000	0.14202	0.005000	0.12908	0.283000	0.27025	-0.019000	0.12546	-0.075000	0.12798	0.533000	0.62120	TAC		0.438	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		3	50	0	0	0	1	0	3	50				
OSBPL1A	114876	broad.mit.edu	37	18	21758086	21758086	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr18:21758086C>T	ENST00000319481.3	-	21	2190	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.G149R|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.G280R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	662					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTGTTTAATCCTTCAGCATGA	0.398																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1984-1986)Gga>Aga		oxysterol binding protein-like 1A							147.0	137.0	141.0					18																	21758086		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21758086C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1984G>A	18.37:g.21758086C>T	ENSP00000320291:p.Gly662Arg					OSBPL1A_ENST00000357041.4_Missense_Mutation_p.G280R|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.G149R	p.G662R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			21	2190	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		662					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.1984G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267748	0.95399	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.33438	1.41;1.41;1.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78155	-0.2314	10	0.62326	D	0.03	-29.2664	20.1861	0.98216	0.0:1.0:0.0:0.0	.	662	Q9BXW6	OSBL1_HUMAN	R	662;149;280	ENSP00000320291:G662R;ENSP00000382372:G149R;ENSP00000349545:G280R	ENSP00000320291:G662R	G	-	1	0	OSBPL1A	20012084	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.811000	0.86092	2.774000	0.95407	0.655000	0.94253	GGA		0.398	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	63	0	0	0	1	0	6	63				
CPNE3	8895	broad.mit.edu	37	8	87552514	87552514	+	Silent	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr8:87552514G>A	ENST00000521271.1	+	8	747	c.585G>A	c.(583-585)aaG>aaA	p.K195K	CPNE3_ENST00000198765.4_Silent_p.K195K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	195	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGCCTTTCAAGATCTCTCTTA	0.308																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(583-585)aaG>aaA		copine III							85.0	96.0	92.0					8																	87552514		2203	4300	6503	SO:0001819	synonymous_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87552514G>A	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.585G>A	8.37:g.87552514G>A						CPNE3_ENST00000198765.4_Silent_p.K195K	p.K195K	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			8	747	+			195			C2 2.		A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	c.585G>A	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	G	2.806	-0.247967	0.05867	.	.	ENSG00000085719	ENST00000517391	.	.	.	5.82	-0.624	0.11552	.	.	.	.	.	T	0.57475	0.2056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52866	-0.8518	4	.	.	.	-28.871	10.536	0.45004	0.5937:0.0:0.4063:0.0	.	.	.	.	K	84	.	.	R	+	2	0	CPNE3	87621630	1.000000	0.71417	0.996000	0.52242	0.371000	0.29859	1.359000	0.34113	-0.102000	0.12197	-0.469000	0.05056	AGA		0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			9	100	0	0	0	1	0	9	100				
KLHL6	89857	broad.mit.edu	37	3	183217409	183217409	+	Silent	SNP	G	G	A	rs149326068		TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr3:183217409G>A	ENST00000341319.3	-	4	1151	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	372					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAATGTCACGCATGCAAACT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20523	0.0		0.001	False		,,,				2504	0.0					ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1114-1116)tgC>tgT		kelch-like family member 6		G		0,4406		0,0,2203	176.0	150.0	159.0		1116	0.3	1.0	3	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL6	NM_130446.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		372/622	183217409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183217409G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1116C>T	3.37:g.183217409G>A							p.C372C	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		4	1151	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		372					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1116C>T	CCDS3245.2																																																																																				0.532	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		23	198	0	0	0	1	0	23	198				
BCAM	4059	broad.mit.edu	37	19	45316773	45316773	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:45316773G>A	ENST00000270233.6	+	6	702	c.680G>A	c.(679-681)cGc>cAc	p.R227H	BCAM_ENST00000589651.1_Missense_Mutation_p.R227H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	227	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGCGGCTCCGCAAGGATGAC	0.706																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(679-681)cGc>cAc		basal cell adhesion molecule (Lutheran blood group)							41.0	45.0	43.0					19																	45316773		2200	4295	6495	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45316773G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.680G>A	19.37:g.45316773G>A	ENSP00000270233:p.Arg227His					BCAM_ENST00000270233.6_Missense_Mutation_p.R227H	p.R227H			P50895	BCAM_HUMAN			6	724	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	227			Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.680G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	7.126	0.578928	0.13686	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.76060	-0.99;-0.99	4.15	-8.31	0.01001	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46718	0.1407	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34750	-0.9816	9	0.22706	T	0.39	-5.8484	9.5003	0.39013	0.7786:0.0935:0.1279:0.0	.	227	P50895	BCAM_HUMAN	H	227	ENSP00000270233:R227H;ENSP00000375817:R227H	ENSP00000270233:R227H	R	+	2	0	BCAM	50008613	0.000000	0.05858	0.022000	0.16811	0.207000	0.24258	-2.249000	0.01188	-1.804000	0.01241	-1.244000	0.01528	CGC		0.706	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		4	127	0	0	0	1	0	4	127				
FAT1	2195	broad.mit.edu	37	4	187540420	187540426	+	Frame_Shift_Del	DEL	AATGACA	AATGACA	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr4:187540420_187540426delAATGACA	ENST00000441802.2	-	10	7523_7529	c.7314_7320delTGTCATT	c.(7312-7320)tttgtcattfs	p.FVI2438fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2438	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCACTGTCAATGACAAAATGTTTAT	0.435										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7312-7320)ttfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540420_187540426delAATGACA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7314_7320delTGTCATT	4.37:g.187540420_187540426delAATGACA	ENSP00000406229:p.Phe2438fs	HNSCC(5;0.00058)					p.FVI2438fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7523_7529	-			2438			Cadherin 22.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.7314_7320delTGTCATT	CCDS47177.1																																																																																				0.435	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	73						35	73	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			643253							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	5						3	5	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		2	4						2	4	---	---	---	---
GAS2L1P2	340508	broad.mit.edu	37	9	99838904	99838904	+	RNA	DEL	G	G	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:99838904delG	ENST00000442849.2	-	0	1310					NR_002942.1																						ACAGCCTTATGGGTCCCGGCA	0.612																																						ENST00000442849.2																			0																																																			340508							g.chr9:99838904delG																													9.37:g.99838904delG								NR_002942.1						0	1310	-									RNA	DEL	ENST00000442849.2	37																																																																																						0.612	RP11-520B13.4-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000053300.2			7	4						7	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402533	139402546	+	Frame_Shift_Del	DEL	CGTGTTGCCCGCGT	CGTGTTGCCCGCGT	-	rs200871631|rs530959956|rs200608278	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr9:139402533_139402546delCGTGTTGCCCGCGT	ENST00000277541.6	-	21	3446_3459	c.3371_3384delACGCGGGCAACACG	c.(3370-3384)gacgcgggcaacacgfs	p.DAGNT1124fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1124	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAG	0.673			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3370-3384)gfs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402533_139402546delCGTGTTGCCCGCGT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3371_3384delACGCGGGCAACACG	9.37:g.139402533_139402546delCGTGTTGCCCGCGT	ENSP00000277541:p.Asp1124fs	HNSCC(8;0.001)					p.DAGNT1124fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3446_3459	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1124			EGF-like 29.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3371_3384delACGCGGGCAACACG	CCDS43905.1																																																																																				0.673	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		21	43						21	43	---	---	---	---
TBC1D12	23232	broad.mit.edu	37	10	96162517	96162534	+	In_Frame_Del	DEL	GGAGGAGGCTGACGAGGA	GGAGGAGGCTGACGAGGA	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr10:96162517_96162534delGGAGGAGGCTGACGAGGA	ENST00000225235.4	+	1	257_274	c.147_164delGGAGGAGGCTGACGAGGA	c.(145-165)ccggaggaggctgacgaggag>ccg	p.EEADEE56del		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	56				Missing (in Ref. 1; BAA25534). {ECO:0000305}.			Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TGGAGCCGCCggaggaggctgacgaggaggaggaggct	0.72																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(145-165)ccg>cc		TBC1 domain family, member 12				3,2931		1,1,1465						-5.7	0.0			7	21,6483		6,9,3237	no	coding	TBC1D12	NM_015188.1		7,10,4702	A1A1,A1R,RR		0.3229,0.1022,0.2543				24,9414				SO:0001651	inframe_deletion	23232					intracellular	Rab GTPase activator activity	g.chr10:96162517_96162534delGGAGGAGGCTGACGAGGA	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.147_164delGGAGGAGGCTGACGAGGA	10.37:g.96162517_96162534delGGAGGAGGCTGACGAGGA	ENSP00000225235:p.Glu56_Glu61del						p.PEEADEE49del	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	257_274	+		Colorectal(252;0.0429)	49					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	In_Frame_Del	DEL	ENST00000225235.4	37	c.147_164delGGAGGAGGCTGACGAGGA	CCDS41553.1																																																																																				0.720	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			2	4						2	4	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			8	156						8	156	---	---	---	---
OLIG2	10215	broad.mit.edu	37	21	34396032	34396032	+	5'Flank	DEL	G	G	-			TCGA-IQ-A61E-01A-22D-A30E-08	TCGA-IQ-A61E-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c372fd-805c-416e-b8b0-5215b58a6c28	8d25fc42-c5a3-4143-be4a-467df7caa769	g.chr21:34396032delG	ENST00000333337.3	+	0	0				AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_5'Flank			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2						myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						AGACACCAGTGGGCAGCAACA	0.632			T	TRA@	T-ALL																																	ENST00000420356.1				Dom	yes		21	21q22.11	10215		oligodendrocyte lineage transcription factor 2 (BHLHB1)			L					0																																																	SO:0001631	upstream_gene_variant	0							g.chr21:34396032delG	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032		21.37:g.34396032delG	Exception_encountered					AP000282.2_ENST00000454622.1_RNA								0	201	-								B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	RNA	DEL	ENST00000333337.3	37		CCDS13620.1																																																																																				0.632	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806		2	4						2	4	---	---	---	---
