#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
CR1L	1379	broad.mit.edu	37	1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	ENST00000508064.2	+	1	117	c.57G>C	c.(55-57)ttG>ttC	p.L19F		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	19						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667																																						ENST00000508064.2																			1	Substitution - Missense(1)	p.L19F(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(55-57)ttG>ttC		complement component (3b/4b) receptor 1-like							85.0	91.0	89.0					1																	207818635		2203	4300	6503	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207818635G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.57G>C	1.37:g.207818635G>C	ENSP00000421736:p.Leu19Phe						p.L19F	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			1	117	+			19					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.57G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822880	0.16678	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.38401	1.14	2.74	-5.49	0.02584	.	.	.	.	.	T	0.26195	0.0639	L	0.57536	1.79	0.09310	N	1	B	0.30281	0.275	B	0.28784	0.094	T	0.12811	-1.0533	9	0.17369	T	0.5	.	7.2828	0.26320	0.0:0.1771:0.5071:0.3158	.	19	Q2VPA4	CR1L_HUMAN	F	19	ENSP00000421736:L19F	ENSP00000437875:L19F	L	+	3	2	CR1L	205885258	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.313000	0.00516	-2.398000	0.00580	-0.693000	0.03709	TTG		0.667	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		3	80	0	0	0	1	0	3	80				
BNIP3P1	319138	broad.mit.edu	37	14	28733803	28733803	+	RNA	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:28733803A>T	ENST00000550043.1	+	0	208									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GAGAGCCTGCAGGGCTCCTGG	0.582																																						ENST00000550043.1																			0																																																			0							g.chr14:28733803A>T			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733803A>T														0	208	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.582	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			3	37	0	0	0	1	0	3	37				
PSMG2	56984	broad.mit.edu	37	18	12706677	12706677	+	Silent	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:12706677G>T	ENST00000317615.6	+	2	868	c.186G>T	c.(184-186)gcG>gcT	p.A62A	PSMG2_ENST00000585331.2_Silent_p.A31A|PSMG2_ENST00000590217.1_Silent_p.A62A	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2									p.A62A(1)		lung(1)|prostate(2)|skin(1)	4						ATCCATATGCGACCACAGAAG	0.348																																						ENST00000317615.6																			1	Substitution - coding silent(1)	p.A62A(1)	prostate(1)	lung(1)|prostate(2)|skin(1)	4						c.(184-186)gcG>gcT		proteasome (prosome, macropain) assembly chaperone 2							138.0	126.0	130.0					18																	12706677		2203	4300	6503	SO:0001819	synonymous_variant	56984				proteasome assembly	nucleus	protein binding	g.chr18:12706677G>T	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"""hepatocellular carcinoma susceptibility protein"", ""CD40 ligand-activated specific transcript 3"""	609702	"""tumor necrosis factor superfamily, member 5-induced protein 1"""	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.186G>T	18.37:g.12706677G>T						PSMG2_ENST00000590217.1_Silent_p.A62A|RP11-973H7.2_ENST00000585331.1_RNA	p.A62A	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN			2	868	+			62						Silent	SNP	ENST00000317615.6	37	c.186G>T	CCDS11862.1																																																																																				0.348	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		48	50	1	0	4.64027e-19	1	5.26173e-19	48	50				
OR7C1	26664	broad.mit.edu	37	19	14910838	14910838	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	ENST00000248073.2	-	1	185	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	37					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493																																						ENST00000248073.2																			1	Substitution - coding silent(1)	p.V37V(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(109-111)gtC>gtG		olfactory receptor, family 7, subfamily C, member 1							86.0	76.0	80.0					19																	14910838		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910838G>C	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.111C>G	19.37:g.14910838G>C						OR7A5_ENST00000601611.1_Intron	p.V37V	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	185	-			37					Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.111C>G	CCDS12317.1																																																																																				0.493	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			6	144	0	0	0	1	0	6	144				
GPR75	10936	broad.mit.edu	37	2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	ENST00000394705.2	-	2	1079	c.809C>T	c.(808-810)gCt>gTt	p.A270V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	270					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.A270V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557																																						ENST00000394705.2																			1	Substitution - Missense(1)	p.A270V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(808-810)gCt>gTt		G protein-coupled receptor 75							123.0	112.0	115.0					2																	54081085		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081085G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.809C>T	2.37:g.54081085G>A	ENSP00000378195:p.Ala270Val					GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	p.A270V	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1079	-			270					B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.809C>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368900	0.82463	.	.	ENSG00000119737	ENST00000394705	T	0.27256	1.68	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.130962	0.53938	D	0.000057	T	0.55194	0.1905	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56312	-0.8000	9	0.62326	D	0.03	-9.3384	19.359	0.94428	0.0:0.0:1.0:0.0	.	270	O95800	GPR75_HUMAN	V	270	ENSP00000378195:A270V	ENSP00000378195:A270V	A	-	2	0	GPR75	53934589	1.000000	0.71417	0.685000	0.30070	0.962000	0.63368	8.727000	0.91480	2.811000	0.96726	0.555000	0.69702	GCT		0.557	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			3	80	0	0	0	1	0	3	80				
OR52D1	390066	broad.mit.edu	37	11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498																																						ENST00000322641.5																			1	Substitution - Missense(1)	p.S246A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(736-738)Tcc>Gcc		olfactory receptor, family 52, subfamily D, member 1							200.0	176.0	184.0					11																	5510672		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510672T>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.736T>G	11.37:g.5510672T>G	ENSP00000326232:p.Ser246Ala					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.S246A	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	758	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	246					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.736T>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916353	0.33815	.	.	ENSG00000181609	ENST00000322641	T	0.38887	1.11	5.58	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.39655	0.1086	M	0.62154	1.92	0.29513	N	0.854094	B	0.19200	0.034	B	0.19391	0.025	T	0.39014	-0.9634	10	0.38643	T	0.18	.	11.8209	0.52238	0.0:0.0:0.2761:0.7239	.	246	Q9H346	O52D1_HUMAN	A	246	ENSP00000326232:S246A	ENSP00000326232:S246A	S	+	1	0	OR52D1	5467248	0.048000	0.20356	0.935000	0.37517	0.581000	0.36288	0.370000	0.20433	1.110000	0.41699	0.533000	0.62120	TCC		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		7	184	0	0	0	1	0	7	184				
UBQLNL	143630	broad.mit.edu	37	11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	ENST00000380184.1	-	1	897	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468																																						ENST00000380184.1																			1	Substitution - Missense(1)	p.S212T(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(634-636)Tcc>Acc		ubiquilin-like							127.0	130.0	129.0					11																	5537038		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537038A>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.634T>A	11.37:g.5537038A>T	ENSP00000369531:p.Ser212Thr					HBG2_ENST00000380259.2_Intron	p.S212T	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	897	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	212					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.634T>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.063143	0.19987	.	.	ENSG00000175518	ENST00000380184	T	0.52295	0.67	5.05	1.27	0.21489	.	0.813653	0.10698	N	0.644459	T	0.40498	0.1119	M	0.63428	1.95	0.09310	N	1	P	0.37781	0.608	B	0.35550	0.205	T	0.31308	-0.9948	10	0.52906	T	0.07	-11.8938	5.2546	0.15540	0.5129:0.3891:0.098:0.0	.	212	Q8IYU4	UBQLN_HUMAN	T	212	ENSP00000369531:S212T	ENSP00000369531:S212T	S	-	1	0	UBQLNL	5493614	0.308000	0.24509	0.048000	0.18961	0.005000	0.04900	0.682000	0.25335	0.380000	0.24823	-0.256000	0.11100	TCC		0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		9	287	0	0	0	1	0	9	287				
ISX	91464	broad.mit.edu	37	22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:35481682C>G	ENST00000308700.6	+	4	1686	c.734C>G	c.(733-735)aCa>aGa	p.T245R	ISX_ENST00000404699.2_Missense_Mutation_p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	245					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T245R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTACTTCAACATAGAGATTG	0.532																																						ENST00000308700.6																			1	Substitution - Missense(1)	p.T245R(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(733-735)aCa>aGa		intestine-specific homeobox							142.0	100.0	114.0					22																	35481682		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35481682C>G	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.734C>G	22.37:g.35481682C>G	ENSP00000311492:p.Thr245Arg					ISX_ENST00000404699.2_Missense_Mutation_p.T245R	p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			4	1686	+			245					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.734C>G	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121045	0.56613	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90900	-2.75;-2.75	5.14	4.12	0.48240	.	0.000000	0.47455	D	0.000224	D	0.92886	0.7737	M	0.64997	1.995	0.09310	N	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.86203	0.1620	10	0.87932	D	0	.	9.679	0.40059	0.0:0.9035:0.0:0.0965	.	245	Q2M1V0	ISX_HUMAN	R	245	ENSP00000311492:T245R;ENSP00000386037:T245R	ENSP00000311492:T245R	T	+	2	0	ISX	33811682	0.340000	0.24792	0.025000	0.17156	0.113000	0.19764	1.905000	0.39878	1.157000	0.42530	0.655000	0.94253	ACA		0.532	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		3	121	0	0	0	1	0	3	121				
CRISP2	7180	broad.mit.edu	37	6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	ENST00000339139.4	-	7	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.V122L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413																																						ENST00000339139.4																			1	Substitution - Missense(1)	p.V122L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(364-366)Gtc>Ctc		cysteine-rich secretory protein 2							139.0	127.0	131.0					6																	49666128		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49666128C>G	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.364G>C	6.37:g.49666128C>G	ENSP00000339155:p.Val122Leu						p.V122L	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	600	-	Lung NSC(77;0.0161)		122					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.364G>C	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492926	0.26774	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.09255	3.0	5.26	-5.82	0.02333	CAP domain (3);	3.428320	0.00481	N	0.000139	T	0.03915	0.0110	L	0.43923	1.385	0.09310	N	0.999991	B;B	0.29270	0.24;0.001	B;B	0.36766	0.232;0.001	T	0.27331	-1.0077	10	0.30854	T	0.27	.	10.2465	0.43343	0.0:0.211:0.1014:0.6876	.	122;122	Q7Z7B2;P16562	.;CRIS2_HUMAN	L	122	ENSP00000339155:V122L	ENSP00000211238:V122L	V	-	1	0	CRISP2	49774087	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.980000	0.03770	-1.207000	0.02637	-0.259000	0.10710	GTC		0.413	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		4	182	0	0	0	1	0	4	182				
ZNF512B	57473	broad.mit.edu	37	20	62598086	62598086	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:62598086C>T	ENST00000450537.1	-	5	502	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A148T(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGTGAATGCGGCCTCGCAG	0.647																																						ENST00000450537.1																			2	Substitution - Missense(2)	p.A148T(2)	prostate(2)	NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(442-444)Gca>Aca		zinc finger protein 512B							27.0	30.0	29.0					20																	62598086		2203	4297	6500	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598086C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.442G>A	20.37:g.62598086C>T	ENSP00000393795:p.Ala148Thr					ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T	p.A148T			Q96KM6	Z512B_HUMAN			5	502	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		148					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.442G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652564	0.88056	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.74632	-0.86;-0.86;-0.86	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.132116	0.50627	D	0.000104	T	0.63534	0.2519	L	0.27053	0.805	0.34056	D	0.656705	D	0.56968	0.978	B	0.44133	0.442	T	0.73464	-0.3974	10	0.40728	T	0.16	-22.78	11.8173	0.52218	0.0:0.9194:0.0:0.0806	.	148	Q96KM6	Z512B_HUMAN	T	148	ENSP00000358904:A148T;ENSP00000393795:A148T;ENSP00000217130:A148T	ENSP00000217130:A148T	A	-	1	0	ZNF512B	62068530	0.990000	0.36364	0.523000	0.27875	0.979000	0.70002	3.351000	0.52232	2.534000	0.85438	0.585000	0.79938	GCA		0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	60	0	0	0	1	0	3	60				
PRKDC	5591	broad.mit.edu	37	8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2190					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAGTGGCCACTATCTCAACC	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Missense(2)	p.V2189L(1)|p.V2190L(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6565-6567)Gtg>Ttg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							68.0	71.0	70.0					8																	48769758		1930	4133	6063	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48769758C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6565G>T	8.37:g.48769758C>A	ENSP00000313420:p.Val2189Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	p.V2189L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			50	6621	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2190					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6565G>T		.	.	.	.	.	.	.	.	.	.	C	12.95	2.092476	0.36952	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.50001	0.76;0.76	5.21	5.21	0.72293	Armadillo-like helical (1);NUC194 (1);Armadillo-type fold (1);	0.159066	0.42420	D	0.000705	T	0.36054	0.0953	L	0.28344	0.845	0.39868	D	0.973463	B;B	0.16802	0.019;0.019	B;B	0.21360	0.034;0.034	T	0.17653	-1.0362	10	0.39692	T	0.17	.	13.1207	0.59325	0.1601:0.8399:0.0:0.0	.	2189;2190	E7EUY0;P78527	.;PRKDC_HUMAN	L	2189	ENSP00000313420:V2189L;ENSP00000345182:V2189L	ENSP00000313420:V2189L	V	-	1	0	PRKDC	48932311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.657000	0.54474	2.599000	0.87857	0.591000	0.81541	GTG		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	24	1	0	0.0215528	1	0.0220742	5	24				
MDN1	23195	broad.mit.edu	37	6	90411737	90411737	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:90411737G>A	ENST00000369393.3	-	54	8307	c.8192C>T	c.(8191-8193)gCc>gTc	p.A2731V	MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2731					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGTGTCGGCCACAGTCCA	0.488																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(8191-8193)gCc>gTc		MDN1, midasin homolog (yeast)							54.0	61.0	58.0					6																	90411737		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90411737G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8192C>T	6.37:g.90411737G>A	ENSP00000358400:p.Ala2731Val					MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V	p.A2731V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	54	8307	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2731					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8192C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941333	0.34283	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	5.8	5.8	0.92144	.	0.127169	0.56097	D	0.000035	T	0.00967	0.0032	N	0.24115	0.695	0.32812	D	0.501583	P	0.35328	0.495	B	0.30716	0.119	T	0.30851	-0.9964	10	0.02654	T	1	.	15.5232	0.75881	0.0:0.1376:0.8624:0.0	.	2731	Q9NU22	MDN1_HUMAN	V	2731	ENSP00000358400:A2731V;ENSP00000413970:A2731V	ENSP00000358400:A2731V	A	-	2	0	MDN1	90468458	1.000000	0.71417	0.981000	0.43875	0.273000	0.26683	6.040000	0.70980	2.736000	0.93811	0.591000	0.81541	GCC		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	53	0	0	0	1	0	3	53				
PDP2	57546	broad.mit.edu	37	16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	286					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D286N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557																																						ENST00000311765.2																			1	Substitution - Missense(1)	p.D286N(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(856-858)Gac>Aac		pyruvate dehyrogenase phosphatase catalytic subunit 2							91.0	84.0	86.0					16																	66919043		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919043G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.856G>A	16.37:g.66919043G>A	ENSP00000309548:p.Asp286Asn					PDP2_ENST00000568720.1_Intron	p.D286N	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1190	+		Ovarian(137;0.0563)	286					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.856G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127935	0.94473	.	.	ENSG00000172840	ENST00000311765	T	0.41758	0.99	5.62	5.62	0.85841	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83121	-0.0118	10	0.72032	D	0.01	-19.859	20.0274	0.97527	0.0:0.0:1.0:0.0	.	286	Q9P2J9	PDP2_HUMAN	N	286	ENSP00000309548:D286N	ENSP00000309548:D286N	D	+	1	0	PDP2	65476544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.788000	0.99064	2.812000	0.96745	0.563000	0.77884	GAC		0.557	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		14	70	0	0	0	1	0	14	70				
MRGPRX1	259249	broad.mit.edu	37	11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T	rs368710591	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	ENST00000302797.3	-	1	953	c.729C>A	c.(727-729)caC>caA	p.H243Q	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	243					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H243Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478																																						ENST00000302797.3																			1	Substitution - Missense(1)	p.H243Q(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(727-729)caC>caA		MAS-related GPR, member X1							74.0	67.0	70.0					11																	18955603		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955603G>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.729C>A	11.37:g.18955603G>T	ENSP00000305766:p.His243Gln						p.H243Q	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	953	-			243					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.729C>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.389621	0.01185	.	.	ENSG00000170255	ENST00000302797	T	0.37058	1.22	2.28	-4.56	0.03431	GPCR, rhodopsin-like superfamily (1);	4.966210	0.00166	N	0.000004	T	0.14270	0.0345	N	0.04820	-0.15	0.09310	N	1	B	0.18741	0.03	B	0.20955	0.032	T	0.10359	-1.0633	10	0.12103	T	0.63	.	0.9567	0.01387	0.3604:0.284:0.2109:0.1448	.	243	Q96LB2	MRGX1_HUMAN	Q	243	ENSP00000305766:H243Q	ENSP00000305766:H243Q	H	-	3	2	MRGPRX1	18912179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.075000	0.00025	-1.690000	0.01432	-0.424000	0.05967	CAC		0.478	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		12	126	1	0	2.80697e-09	1	3.04689e-09	12	126				
LRRC3B	116135	broad.mit.edu	37	3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	127						integral component of membrane (GO:0016021)		p.S127T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478																																						ENST00000396641.2																			1	Substitution - Missense(1)	p.S127T(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(379-381)aGt>aCt		leucine rich repeat containing 3B							60.0	57.0	58.0					3																	26751543		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751543G>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.380G>C	3.37:g.26751543G>C	ENSP00000379880:p.Ser127Thr					LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T	p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	972	+			127					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.380G>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614025	0.46631	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	N	0.12569	0.235	0.80722	D	1	B	0.31548	0.328	B	0.35039	0.194	T	0.82299	-0.0526	10	0.41790	T	0.15	-17.1404	19.8676	0.96824	0.0:0.0:1.0:0.0	.	127	Q96PB8	LRC3B_HUMAN	T	127	ENSP00000379880:S127T;ENSP00000398184:S127T;ENSP00000406370:S127T;ENSP00000394940:S127T	ENSP00000379880:S127T	S	+	2	0	LRRC3B	26726547	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.210000	0.65214	2.941000	0.99782	0.655000	0.94253	AGT		0.478	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		25	43	0	0	0	1	0	25	43				
TCAIM	285343	broad.mit.edu	37	3	44399287	44399287	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:44399287G>C	ENST00000342649.4	+	3	511	c.84G>C	c.(82-84)tcG>tcC	p.S28S	TCAIM_ENST00000417237.1_Silent_p.S28S|TCAIM_ENST00000396078.3_Silent_p.S28S|TCAIM_ENST00000383746.3_Silent_p.S28S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	28						mitochondrion (GO:0005739)		p.S28S(2)									GAGCTTTATCGGGAGCTGAAG	0.398																																						ENST00000342649.4																			2	Substitution - coding silent(2)	p.S28S(2)	prostate(2)								c.(82-84)tcG>tcC		T cell activation inhibitor, mitochondrial							122.0	117.0	119.0					3																	44399287		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44399287G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.84G>C	3.37:g.44399287G>C						TCAIM_ENST00000417237.1_Silent_p.S28S|TCAIM_ENST00000396078.3_Silent_p.S28S|TCAIM_ENST00000383746.3_Silent_p.S28S	p.S28S	NM_173826.3	NP_776187.2					3	511	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.84G>C	CCDS2712.1																																																																																				0.398	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		40	78	0	0	0	1	0	40	78				
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567																																						ENST00000180173.5																			1	Substitution - coding silent(1)	p.R344R(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1030-1032)agG>agA		myotubularin related protein 7							294.0	273.0	280.0					8																	17169089		2203	4300	6503	SO:0001819	synonymous_variant	9108						protein tyrosine phosphatase activity	g.chr8:17169089C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1032G>A	8.37:g.17169089C>T						MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R344R	p.R344R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	9	1066	-			344			Myotubularin phosphatase.|Substrate binding (By similarity).		A1L4K9|B4DG87|Q68DX4	Silent	SNP	ENST00000180173.5	37	c.1032G>A	CCDS34851.1																																																																																				0.567	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		37	203	0	0	0	1	0	37	203				
CHAF1A	10036	broad.mit.edu	37	19	4432096	4432096	+	Missense_Mutation	SNP	G	G	A	rs375548057		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:4432096G>A	ENST00000301280.5	+	12	2196	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	699	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D699N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCAGGCGATGACCTGAA	0.637								Chromatin Structure																														ENST00000301280.5																			1	Substitution - Missense(1)	p.D699N(1)	prostate(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2095-2097)Gat>Aat	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	ASN/ASP	0,4406		0,0,2203	74.0	64.0	68.0		2095	-0.7	0.0	19		68	1,8599		0,1,4299	no	missense	CHAF1A	NM_005483.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	699/957	4432096	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432096G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2095G>A	19.37:g.4432096G>A	ENSP00000301280:p.Asp699Asn					CHAF1A_ENST00000587368.1_3'UTR	p.D699N	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2196	+		Hepatocellular(1079;0.137)	699			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2095G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385708	0.25031	0.0	1.16E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25912	1.77	4.38	-0.742	0.11108	.	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	B	0.41571	0.36	T	0.16897	-1.0387	9	0.87932	D	0	-4.0523	1.9912	0.03447	0.1656:0.1116:0.3828:0.34	.	699	Q13111	CAF1A_HUMAN	N	699	ENSP00000301280:D699N	ENSP00000301280:D699N	D	+	1	0	CHAF1A	4383096	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.047000	0.11963	0.167000	0.19631	0.655000	0.94253	GAT		0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		14	65	0	0	0	1	0	14	65				
DNAJB2	3300	broad.mit.edu	37	2	220145308	220145308	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:220145308G>A	ENST00000336576.5	+	3	362	c.74G>A	c.(73-75)cGc>cAc	p.R25H	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	25	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.R25H(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTATCGGCGCAAGGCTCTC	0.517																																						ENST00000336576.5																			1	Substitution - Missense(1)	p.R25H(1)	prostate(1)	endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(73-75)cGc>cAc		DnaJ (Hsp40) homolog, subfamily B, member 2							49.0	55.0	53.0					2																	220145308		2203	4300	6503	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220145308G>A		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.74G>A	2.37:g.220145308G>A	ENSP00000338019:p.Arg25His					DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H|DNAJB2_ENST00000463463.1_3'UTR	p.R25H	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	362	+		Renal(207;0.0474)	25			J.		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.74G>A	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575779	0.86645	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000421532;ENST00000392087;ENST00000442681;ENST00000439026	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	4.89	-1.6	0.08426	Heat shock protein DnaJ, N-terminal (5);	0.636227	0.13469	N	0.385529	T	0.49184	0.1542	L	0.53561	1.675	0.09310	N	1	D;P;P	0.69078	0.997;0.867;0.897	D;P;B	0.67725	0.953;0.714;0.318	T	0.47711	-0.9096	10	0.87932	D	0	.	11.6462	0.51263	0.6978:0.0:0.3022:0.0	.	25;25;25	B4DF16;P25686;P25686-2	.;DNJB2_HUMAN;.	H	25	ENSP00000338019:R25H;ENSP00000414796:R25H;ENSP00000375936:R25H;ENSP00000395173:R25H;ENSP00000375937:R25H;ENSP00000392790:R25H;ENSP00000387951:R25H	ENSP00000338019:R25H	R	+	2	0	DNAJB2	219853552	0.060000	0.20803	0.004000	0.12327	0.821000	0.46438	0.676000	0.25247	-0.295000	0.08960	-0.258000	0.10820	CGC		0.517	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			3	57	0	0	0	1	0	3	57				
KCNAB3	9196	broad.mit.edu	37	17	7827736	7827736	+	Silent	SNP	G	G	T	rs145774275	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	ENST00000303790.2	-	9	707	c.708C>A	c.(706-708)atC>atA	p.I236I		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	236					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.I236I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572																																						ENST00000303790.2																			1	Substitution - coding silent(1)	p.I236I(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(706-708)atC>atA		potassium voltage-gated channel, shaker-related subfamily, beta member 3		G		1,4405	2.1+/-5.4	0,1,2202	103.0	90.0	94.0		708	4.7	1.0	17	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNAB3	NM_004732.2		0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154		236/405	7827736	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7827736G>T	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.708C>A	17.37:g.7827736G>T							p.I236I	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			9	707	-		Prostate(122;0.157)	236					Q4VAW0	Silent	SNP	ENST00000303790.2	37	c.708C>A	CCDS11124.1																																																																																				0.572	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		3	57	1	0	1	1	1	3	57				
DUOX2	50506	broad.mit.edu	37	15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	ENST00000603300.1	-	4	411	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_ENST00000389039.6_Missense_Mutation_p.Y70C|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	70	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.Y70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687																																						ENST00000389039.6																			1	Substitution - Missense(1)	p.Y70C(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(208-210)tAt>tGt		dual oxidase 2							32.0	37.0	35.0					15																	45404868		2196	4288	6484	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404868T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.209A>G	15.37:g.45404868T>C	ENSP00000475084:p.Tyr70Cys					DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C	p.Y70C			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	4	594	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	70			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.209A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203134	0.79127	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.89904	3.07	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.87786	0.2615	9	0.72032	D	0.01	-12.4282	15.3856	0.74699	0.0:0.0:0.0:1.0	.	70	Q9NRD8	DUOX2_HUMAN	C	70	.	ENSP00000373691:Y70C	Y	-	2	0	DUOX2	43192160	1.000000	0.71417	0.516000	0.27786	0.352000	0.29268	5.834000	0.69361	2.234000	0.73211	0.459000	0.35465	TAT		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		15	29	0	0	0	1	0	15	29				
RASGRP3	25780	broad.mit.edu	37	2	33745725	33745725	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:33745725C>T	ENST00000403687.3	+	6	1082	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	114	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448																																						ENST00000403687.3																			1	Substitution - coding silent(1)	p.H114H(1)	prostate(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(340-342)caC>caT		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							211.0	204.0	206.0					2																	33745725		1986	4157	6143	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745725C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.342C>T	2.37:g.33745725C>T						RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1082	+	all_hematologic(175;0.115)		114			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.342C>T	CCDS46256.1																																																																																				0.448	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		92	159	0	0	0	1	0	92	159				
KRTDAP	388533	broad.mit.edu	37	19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	9					cell differentiation (GO:0030154)	extracellular region (GO:0005576)		p.V9M(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572																																						ENST00000338897.3																			1	Substitution - Missense(1)	p.V9M(1)	prostate(1)	breast(1)|lung(4)|prostate(1)	6						c.(25-27)Gtg>Atg		keratinocyte differentiation-associated protein							141.0	109.0	120.0					19																	35981320		2203	4300	6503	SO:0001583	missense	388533				cell differentiation	extracellular region		g.chr19:35981320C>T	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.25G>A	19.37:g.35981320C>T	ENSP00000339251:p.Val9Met					KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M	p.V9M	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	113	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		9					A1L4D7	Missense_Mutation	SNP	ENST00000338897.3	37	c.25G>A	CCDS12462.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821052	0.32237	.	.	ENSG00000188508	ENST00000338897	.	.	.	4.92	2.68	0.31781	.	0.257578	0.27640	N	0.018461	T	0.27063	0.0663	.	.	.	0.09310	N	1	P	0.49696	0.927	B	0.40940	0.344	T	0.19943	-1.0290	8	0.87932	D	0	-32.7469	6.8712	0.24121	0.0:0.7248:0.1776:0.0976	.	9	P60985	KTDAP_HUMAN	M	9	.	ENSP00000339251:V9M	V	-	1	0	KRTDAP	40673160	0.001000	0.12720	0.286000	0.24833	0.092000	0.18411	0.991000	0.29654	1.265000	0.44215	0.462000	0.41574	GTG		0.572	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			6	150	0	0	0	1	0	6	150				
LY9	4063	broad.mit.edu	37	1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	ENST00000263285.6	+	3	513	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000368037.5_Missense_Mutation_p.M161I|LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	161	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M161I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532																																						ENST00000263285.5																			1	Substitution - Missense(1)	p.M161I(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(481-483)atG>atC		lymphocyte antigen 9							92.0	90.0	90.0					1																	160783454		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160783454G>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.483G>C	1.37:g.160783454G>C	ENSP00000263285:p.Met161Ile					LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I|LY9_ENST00000368041.2_Missense_Mutation_p.M121I	p.M161I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	513	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		161			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.483G>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657054	0.14580	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.34667	1.35;1.35	4.04	0.948	0.19561	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.550700	0.03621	N	0.236470	T	0.07728	0.0194	N	0.19112	0.55	0.19300	N	0.99998	B;B;B;B;B;B	0.09022	0.001;0.001;0.0;0.002;0.001;0.001	B;B;B;B;B;B	0.11329	0.002;0.002;0.001;0.006;0.002;0.002	T	0.18335	-1.0340	10	0.23891	T	0.37	0.1881	3.9709	0.09452	0.214:0.0:0.5995:0.1865	.	161;121;121;161;161;161	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	I	161;161;161;161;121;121;63	ENSP00000342921:M161I;ENSP00000263285:M161I	ENSP00000263285:M161I	M	+	3	0	LY9	159050078	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.393000	0.07305	0.070000	0.16634	0.563000	0.77884	ATG		0.532	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		10	114	0	0	0	1	0	10	114				
PCDHA12	56137	broad.mit.edu	37	5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D73E(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.D73E(1)	prostate(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(217-219)gaC>gaA									63.0	76.0	71.0					5																	140255276		2203	4292	6495	SO:0001583	missense	0							g.chr5:140255276C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.219C>A	5.37:g.140255276C>A	ENSP00000381628:p.Asp73Glu					PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.D73E	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	219	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.219C>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484642	0.26598	.	.	ENSG00000251664	ENST00000398631	T	0.25912	1.77	5.18	2.38	0.29361	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13457	0.0326	N	0.17474	0.49	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.15484	0.004;0.013	T	0.25082	-1.0142	9	0.52906	T	0.07	.	1.9694	0.03402	0.2356:0.4467:0.1625:0.1553	.	73;73	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	E	73	ENSP00000381628:D73E	ENSP00000381628:D73E	D	+	3	2	PCDHA12	140235460	0.000000	0.05858	0.990000	0.47175	0.923000	0.55619	-3.118000	0.00596	0.575000	0.29434	0.591000	0.81541	GAC		0.622	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		59	134	1	0	5.98616e-33	1	7.03928e-33	59	134				
UBTF	7343	broad.mit.edu	37	17	42284563	42284563	+	3'UTR	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:42284563G>C	ENST00000302904.4	-	0	2834				UBTF_ENST00000343638.5_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000527034.1_Missense_Mutation_p.L743V|UBTF_ENST00000436088.1_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_3'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGTTGGGGAGGGGAGCTCCT	0.567																																						ENST00000527034.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2227-2229)Ctc>Gtc		upstream binding transcription factor, RNA polymerase I							27.0	26.0	26.0					17																	42284563		2202	4300	6502	SO:0001624	3_prime_UTR_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42284563G>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.*47C>G	17.37:g.42284563G>C						UBTF_ENST00000533177.1_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000436088.1_3'UTR|UBTF_ENST00000302904.4_3'UTR|UBTF_ENST00000343638.5_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA	p.L743V			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	20	2408	-		Breast(137;0.00765)|Prostate(33;0.0181)	0			Asp/Glu/Ser-rich (acidic).		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.2227C>G	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591021	0.46214	.	.	ENSG00000108312	ENST00000527034	D	0.98666	-5.06	5.28	3.26	0.37387	.	.	.	.	.	D	0.98096	0.9372	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.97406	0.9999	6	0.87932	D	0	.	6.74	0.23431	0.0939:0.1799:0.7263:0.0	.	.	.	.	V	743	ENSP00000431539:L743V	ENSP00000431539:L743V	L	-	1	0	UBTF	39640089	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.609000	0.36858	0.775000	0.33450	0.561000	0.74099	CTC		0.567	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		15	25	0	0	0	1	0	15	25				
ABCA13	154664	broad.mit.edu	37	7	48318294	48318294	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	ENST00000435803.1	+	18	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2501					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.T2501T(2)|p.T2446T(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7501-7503)acT>acC		ATP-binding cassette, sub-family A (ABC1), member 13							189.0	190.0	189.0					7																	48318294		1860	4096	5956	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318294T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7503T>C	7.37:g.48318294T>C							p.T2501T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7527	+			2501					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7503T>C	CCDS47584.1																																																																																				0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		29	378	0	0	0	1	0	29	378				
EIF2D	1939	broad.mit.edu	37	1	206778810	206778810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:206778810G>A	ENST00000271764.2	-	5	681	c.473C>T	c.(472-474)aCg>aTg	p.T158M	EIF2D_ENST00000367114.3_Missense_Mutation_p.T158M	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	158	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.T158M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGCCTGACGTGAGCATCTC	0.537																																						ENST00000271764.2																			1	Substitution - Missense(1)	p.T158M(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(472-474)aCg>aTg		eukaryotic translation initiation factor 2D							98.0	76.0	84.0					1																	206778810		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206778810G>A	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.473C>T	1.37:g.206778810G>A	ENSP00000271764:p.Thr158Met					EIF2D_ENST00000367114.3_Missense_Mutation_p.T158M	p.T158M	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			5	681	-			158			PUA.		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.473C>T	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049872	0.19827	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	T;T;T	0.42131	0.98;0.98;0.98	5.65	3.78	0.43462	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.489617	0.26646	N	0.023222	T	0.21841	0.0526	N	0.10760	0.04	0.09310	N	1	B;B	0.27882	0.005;0.192	B;B	0.19666	0.015;0.026	T	0.13980	-1.0489	10	0.46703	T	0.11	-21.1208	10.4239	0.44367	0.0729:0.135:0.7921:0.0	.	158;158	P41214-2;P41214	.;EIF2D_HUMAN	M	158;158;130;130	ENSP00000356081:T158M;ENSP00000271764:T158M;ENSP00000394685:T130M	ENSP00000271764:T158M	T	-	2	0	EIF2D	204845433	0.959000	0.32827	0.008000	0.14137	0.835000	0.47333	3.676000	0.54612	0.934000	0.37316	0.655000	0.94253	ACG		0.537	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		4	44	0	0	0	1	0	4	44				
CCR9	10803	broad.mit.edu	37	3	45942586	45942586	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CCR9_ENST00000395963.2_Silent_p.P90P|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	102					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.P102P(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473																																						ENST00000357632.2																			1	Substitution - coding silent(1)	p.P102P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(304-306)ccC>ccT		chemokine (C-C motif) receptor 9							241.0	227.0	232.0					3																	45942586		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942586C>T	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.306C>T	3.37:g.45942586C>T						CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P	p.P102P	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	486	+			102					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.306C>T	CCDS2732.1																																																																																				0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			8	396	0	0	0	1	0	8	396				
EBF2	64641	broad.mit.edu	37	8	25745379	25745379	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	ENST00000520164.1	-	9	1398	c.861G>T	c.(859-861)ggG>ggT	p.G287G	EBF2_ENST00000408929.3_Silent_p.G139G|EBF2_ENST00000535548.1_Silent_p.G18G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	287	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|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)|metal ion binding (GO:0046872)	p.G287G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			2	Substitution - coding silent(2)	p.G287G(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(859-861)ggG>ggT		early B-cell factor 2							114.0	107.0	109.0					8																	25745379		2002	4211	6213	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25745379C>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.861G>T	8.37:g.25745379C>A						EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	p.G287G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	9	1398	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	287			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.861G>T	CCDS43726.1																																																																																				0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		35	67	1	0	2.20474e-14	1	2.45615e-14	35	67				
VWC2L	402117	broad.mit.edu	37	2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.L12R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433																																						ENST00000312504.5																			1	Substitution - Missense(1)	p.L12R(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						c.(34-36)cTg>cGg		von Willebrand factor C domain containing protein 2-like							92.0	89.0	90.0					2																	215278952		1911	4126	6037	SO:0001583	missense	402117					extracellular region		g.chr2:215278952T>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.35T>G	2.37:g.215278952T>G	ENSP00000308976:p.Leu12Arg					AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R	p.L12R	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN			2	837	+			12					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.35T>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425061	0.83667	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.80199	0.4579	L	0.44542	1.39	0.54753	D	0.99998	D;D	0.76494	0.999;0.991	D;P	0.83275	0.996;0.8	T	0.81568	-0.0873	10	0.72032	D	0.01	-1.9363	16.6438	0.85155	0.0:0.0:0.0:1.0	.	12;12	B7ZW27;B2RUY7	.;VWC2L_HUMAN	R	12	ENSP00000308976:L12R;ENSP00000403779:L12R	ENSP00000308976:L12R	L	+	2	0	VWC2L	214987197	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.466000	0.80914	2.333000	0.79357	0.533000	0.62120	CTG		0.433	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		9	107	0	0	0	1	0	9	107				
LARP1	23367	broad.mit.edu	37	5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	ENST00000336314.4	+	12	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	725					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532																																						ENST00000336314.4																			1	Substitution - Missense(1)	p.P725H(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1942-1944)cCt>cAt		La ribonucleoprotein domain family, member 1							65.0	67.0	66.0					5																	154182914		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154182914C>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1943C>A	5.37:g.154182914C>A	ENSP00000336721:p.Pro648His						p.P648H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		12	1967	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	725					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1943C>A	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.325989|5.325989	0.95708|0.95708	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000518677|ENST00000336314;ENST00000518297;ENST00000524248	.|T;T;T	.|0.49139	.|1.57;0.79;0.89	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71592|0.71592	0.3358|0.3358	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.991;0.995	T|T	0.71978|0.71978	-0.4429|-0.4429	5|10	.|0.54805	.|T	.|0.06	-8.4457|-8.4457	20.0466|20.0466	0.97609|0.97609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|725;648	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	M|H	39|648;725;520	.|ENSP00000336721:P648H;ENSP00000428589:P725H;ENSP00000429904:P520H	.|ENSP00000336721:P648H	L|P	+|+	1|2	2|0	LARP1|LARP1	154163107|154163107	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	7.755000|7.755000	0.85180|0.85180	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		3	59	1	0	1	1	1	3	59				
XIRP1	165904	broad.mit.edu	37	3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1444					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.P1444T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.P1444T(1)	prostate(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4330-4332)Ccc>Acc		xin actin-binding repeat containing 1							52.0	63.0	60.0					3																	39226607		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39226607G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4330C>A	3.37:g.39226607G>T	ENSP00000343140:p.Pro1444Thr					XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T	p.P1444T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4558	-			1444					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4330C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793186	0.00623	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.20598	3.94;2.06	4.42	-0.769	0.11009	.	13.444200	0.00929	N	0.002681	T	0.16769	0.0403	L	0.38175	1.15	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16424	-1.0403	10	0.35671	T	0.21	.	3.9048	0.09177	0.2781:0.0:0.4369:0.285	.	1444	Q702N8	XIRP1_HUMAN	T	1444;127	ENSP00000343140:P1444T;ENSP00000391645:P127T	ENSP00000343140:P1444T	P	-	1	0	XIRP1	39201611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.017000	0.12590	-0.306000	0.08818	-1.966000	0.00469	CCC		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		34	112	1	0	2.47316e-13	1	2.70768e-13	34	112				
GRM4	2914	broad.mit.edu	37	6	34100899	34100899	+	Silent	SNP	C	C	T	rs199504271		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:34100899C>T	ENST00000538487.2	-	2	818	c.375G>A	c.(373-375)gcG>gcA	p.A125A	GRM4_ENST00000374181.4_Silent_p.A125A|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	125					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A125A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTCGATGAGCGCCTGCACAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17760	0.001		0.0	False		,,,				2504	0.0					ENST00000374181.3																			2	Substitution - coding silent(2)	p.A125A(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(373-375)gcG>gcA		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	63.0	52.0	56.0		375	1.8	1.0	6		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRM4	NM_000841.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		125/913	34100899	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34100899C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.375G>A	6.37:g.34100899C>T						GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.A125A	p.A125A	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			1	544	-			125					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.375G>A	CCDS4787.1																																																																																				0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			16	19	0	0	0	1	0	16	19				
RCBTB1	55213	broad.mit.edu	37	13	50123715	50123715	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000258646.3_Silent_p.Y308Y|RCBTB1_ENST00000546015.1_Silent_p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	308					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y308Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577																																						ENST00000378302.2																			1	Substitution - coding silent(1)	p.Y308Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(922-924)taC>taT		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							88.0	70.0	76.0					13																	50123715		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123715G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.924C>T	13.37:g.50123715G>A						RCBTB1_ENST00000546015.1_Silent_p.Y308Y|RCBTB1_ENST00000258646.3_Silent_p.Y308Y	p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1184	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	308					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.924C>T	CCDS9418.1																																																																																				0.577	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		20	47	0	0	0	1	0	20	47				
PEMT	10400	broad.mit.edu	37	17	17412831	17412831	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:17412831C>T	ENST00000395783.1	-	5	563	c.384G>A	c.(382-384)gcG>gcA	p.A128A	PEMT_ENST00000395781.2_Silent_p.A165A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000435340.2_Silent_p.A143A|RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000255389.5_Silent_p.A165A|PEMT_ENST00000395782.1_Silent_p.A128A	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	128					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)	p.A165A(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGGTCACTCTCGCCTCCTTGA	0.592																																						ENST00000395781.2																			1	Substitution - coding silent(1)	p.A165A(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7						c.(493-495)gcG>gcA		phosphatidylethanolamine N-methyltransferase							185.0	142.0	157.0					17																	17412831		2203	4300	6503	SO:0001819	synonymous_variant	10400				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	g.chr17:17412831C>T	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.384G>A	17.37:g.17412831C>T						PEMT_ENST00000395783.1_Silent_p.A128A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395782.1_Silent_p.A128A|PEMT_ENST00000435340.2_Silent_p.A143A|PEMT_ENST00000255389.5_Silent_p.A165A	p.A165A	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN		Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)	5	576	-			128					A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	c.495G>A	CCDS11187.1																																																																																				0.592	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		11	72	0	0	0	1	0	11	72				
RSPRY1	89970	broad.mit.edu	37	16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	ENST00000537866.1	+	4	1355	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	161						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.T161I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348																																						ENST00000537866.1																			1	Substitution - Missense(1)	p.T161I(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(481-483)aCa>aTa		ring finger and SPRY domain containing 1							204.0	192.0	196.0					16																	57243065		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57243065C>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.482C>T	16.37:g.57243065C>T	ENSP00000443176:p.Thr161Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I	p.T161I			Q96DX4	RSPRY_HUMAN			4	1355	+			161					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.482C>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960623	0.74016	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.65549	-0.16;-0.16	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.48877	1.53	0.80722	D	1	P	0.42456	0.78	B	0.32624	0.149	T	0.58171	-0.7683	10	0.42905	T	0.14	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	161	Q96DX4	RSPRY_HUMAN	I	161	ENSP00000377942:T161I;ENSP00000443176:T161I	ENSP00000377942:T161I	T	+	2	0	RSPRY1	55800566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.434000	0.80377	2.894000	0.99253	0.591000	0.81541	ACA		0.348	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		24	388	0	0	0	1	0	24	388				
NUDCD1	84955	broad.mit.edu	37	8	110293385	110293385	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:110293385C>G	ENST00000239690.4	-	6	1214	c.840G>C	c.(838-840)tgG>tgC	p.W280C	NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	NM_032869.3	NP_116258.2			NudC domain containing 1									p.W280C(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGTCTGTTGCCAGTAATACA	0.348																																						ENST00000239690.4																			2	Substitution - Missense(2)	p.W280C(2)	prostate(2)	breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(838-840)tgG>tgC		NudC domain containing 1							104.0	94.0	97.0					8																	110293385		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110293385C>G	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.840G>C	8.37:g.110293385C>G	ENSP00000239690:p.Trp280Cys					NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	p.W280C	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		6	1214	-	all_neural(195;0.219)		280			CS.			Missense_Mutation	SNP	ENST00000239690.4	37	c.840G>C	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528329	0.64860	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	D;D	0.97505	-4.41;-4.41	4.95	4.95	0.65309	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.99758	1.1020	10	0.87932	D	0	-4.9007	17.5426	0.87852	0.0:1.0:0.0:0.0	.	193;280;251	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	C	280;251	ENSP00000239690:W280C;ENSP00000410707:W251C	ENSP00000239690:W280C	W	-	3	0	NUDCD1	110362561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.603000	0.67619	2.446000	0.82766	0.650000	0.86243	TGG		0.348	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		10	140	0	0	0	1	0	10	140				
SIPA1L3	23094	broad.mit.edu	37	19	38600988	38600988	+	Missense_Mutation	SNP	G	G	A	rs200090564		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:38600988G>A	ENST00000222345.6	+	8	2764	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	752	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.R752Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCATTGTCCGAGTCCACAAC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17052	0.001		0.0	False		,,,				2504	0.0					ENST00000222345.6																			1	Substitution - Missense(1)	p.R752Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2254-2256)cGa>cAa		signal-induced proliferation-associated 1 like 3							201.0	137.0	159.0					19																	38600988		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600988G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2255G>A	19.37:g.38600988G>A	ENSP00000222345:p.Arg752Gln						p.R752Q	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2764	+			752			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2255G>A	CCDS33007.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.5	4.641879	0.87859	.	.	ENSG00000105738	ENST00000222345	D	0.93307	-3.2	4.95	4.95	0.65309	Rap/ran-GAP (2);	0.067897	0.64402	D	0.000014	D	0.87265	0.6134	N	0.16862	0.45	0.45995	D	0.998802	P	0.38455	0.632	B	0.33750	0.169	D	0.88983	0.3409	10	0.62326	D	0.03	-7.754	16.9653	0.86284	0.0:0.0:1.0:0.0	.	752	O60292	SI1L3_HUMAN	Q	752	ENSP00000222345:R752Q	ENSP00000222345:R752Q	R	+	2	0	SIPA1L3	43292828	0.925000	0.31364	0.942000	0.38095	0.633000	0.38033	4.894000	0.63206	2.309000	0.77851	0.555000	0.69702	CGA		0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	31	0	0	0	1	0	26	31				
STK4	6789	broad.mit.edu	37	20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000499879.2_Missense_Mutation_p.D388N|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	443	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.D443N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			1	Substitution - Missense(1)	p.D443N(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1327-1329)Gac>Aac		serine/threonine kinase 4							63.0	59.0	61.0					20																	43703680		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703680G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1327G>A	20.37:g.43703680G>A	ENSP00000361892:p.Asp443Asn					STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	p.D443N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1422	+		Myeloproliferative disorder(115;0.0122)	443			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1327G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413907	0.83449	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74632	-0.86;-0.86	5.81	4.81	0.61882	SARAH domain (1);SARAH (1);	0.161766	0.53938	D	0.000053	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B	0.28512	0.214;0.086	B;B	0.34873	0.171;0.191	T	0.70894	-0.4748	10	0.87932	D	0	.	16.3763	0.83401	0.0:0.1316:0.8684:0.0	.	388;443	F5H5B4;Q13043	.;STK4_HUMAN	N	443;388	ENSP00000361892:D443N;ENSP00000443514:D388N	ENSP00000361892:D443N	D	+	1	0	STK4	43137094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.494000	0.81503	2.746000	0.94184	0.655000	0.94253	GAC		0.542	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		5	68	0	0	0	1	0	5	68				
OR1J1	347168	broad.mit.edu	37	9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	ENST00000259357.2	-	1	888	c.859C>A	c.(859-861)Cca>Aca	p.P287T	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418																																						ENST00000259357.2																			1	Substitution - Missense(1)	p.P287T(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(859-861)Cca>Aca		olfactory receptor, family 1, subfamily J, member 1							144.0	135.0	138.0					9																	125239347		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239347G>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.859C>A	9.37:g.125239347G>T	ENSP00000259357:p.Pro287Thr						p.P287T	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	888	-			287					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.859C>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124787	0.37533	.	.	ENSG00000136834	ENST00000259357	T	0.63913	-0.07	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.81927	0.4926	M	0.87038	2.855	0.35285	D	0.781694	D	0.89917	1.0	D	0.78314	0.991	D	0.88199	0.2882	10	0.87932	D	0	.	17.5239	0.87794	0.0:0.0:1.0:0.0	.	287	Q8NGS3	OR1J1_HUMAN	T	287	ENSP00000259357:P287T	ENSP00000259357:P287T	P	-	1	0	OR1J1	124279168	1.000000	0.71417	0.999000	0.59377	0.219000	0.24729	5.200000	0.65158	2.754000	0.94517	0.597000	0.82753	CCA		0.418	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			63	151	1	0	7.59065e-32	1	8.84415e-32	63	151				
FLG	2312	broad.mit.edu	37	1	152275293	152275293	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4023					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D4023D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383									Ichthyosis																													ENST00000368799.1																			1	Substitution - coding silent(1)	p.D4023D(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(12067-12069)gaT>gaC		filaggrin							146.0	139.0	141.0					1																	152275293		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275293A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.12069T>C	1.37:g.152275293A>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D4023D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	12104	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		4023					Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.12069T>C	CCDS30860.1																																																																																				0.383	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		68	192	0	0	0	1	0	68	192				
TENM4	26011	broad.mit.edu	37	11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:78516453T>A	ENST00000278550.7	-	15	2525	c.2063A>T	c.(2062-2064)aAc>aTc	p.N688I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	688	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N688I(2)									GGTCTCGCAGTTGGTGCCTCC	0.617																																						ENST00000278550.7																			2	Substitution - Missense(2)	p.N688I(2)	prostate(2)								c.(2062-2064)aAc>aTc		teneurin transmembrane protein 4							47.0	55.0	52.0					11																	78516453		2133	4234	6367	SO:0001583	missense	26011							g.chr11:78516453T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2063A>T	11.37:g.78516453T>A	ENSP00000278550:p.Asn688Ile						p.N688I	NM_001098816.2	NP_001092286.2					15	2525	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2063A>T	CCDS44688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.79|15.79	2.936538|2.936538	0.52972|0.52972	.|.	.|.	ENSG00000149256|ENSG00000149256	ENST00000278550|ENST00000533525	T|.	0.11604|.	2.76|.	5.1|5.1	3.96|3.96	0.45880|0.45880	Epidermal growth factor-like (1);EGF-like region, conserved site (2);|.	0.162904|.	0.53938|.	D|.	0.000047|.	T|T	0.61837|0.61837	0.2379|0.2379	M|M	0.65320|0.65320	2|2	0.35577|0.35577	D|D	0.80599|0.80599	B|.	0.23735|.	0.09|.	B|.	0.22386|.	0.039|.	T|T	0.68526|0.68526	-0.5385|-0.5385	9|5	.|.	.|.	.|.	.|.	8.3435|8.3435	0.32258|0.32258	0.0:0.1582:0.0:0.8418|0.0:0.1582:0.0:0.8418	.|.	688|.	Q6N022|.	TEN4_HUMAN|.	I|S	688|2	ENSP00000278550:N688I|.	.|.	N|T	-|-	2|1	0|0	ODZ4|ODZ4	78194101|78194101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.861000|3.861000	0.56002|0.56002	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.617	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	9	0	0	0	1	0	4	9				
NOTCH2	4853	broad.mit.edu	37	1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:120479922C>T	ENST00000256646.2	-	21	3724	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1169	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTATCCACCAATGAAGTCA	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3505-3507)Ggt>Agt		notch 2							143.0	118.0	127.0					1																	120479922		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120479922C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3505G>A	1.37:g.120479922C>T	ENSP00000256646:p.Gly1169Ser						p.G1169S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3724	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1169			EGF-like 30; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.3505G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492005	0.96339	.	.	ENSG00000134250	ENST00000256646	D	0.91686	-2.89	5.15	5.15	0.70609	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001800	D	0.94732	0.8300	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94429	0.7648	10	0.52906	T	0.07	.	17.9589	0.89078	0.0:1.0:0.0:0.0	.	1169;1169	Q6IQ50;Q04721	.;NOTC2_HUMAN	S	1169	ENSP00000256646:G1169S	ENSP00000256646:G1169S	G	-	1	0	NOTCH2	120281445	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.416000	0.66417	2.549000	0.85964	0.655000	0.94253	GGT		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		18	148	0	0	0	1	0	18	148				
MCOLN3	55283	broad.mit.edu	37	1	85510885	85510885	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	ENST00000370589.2	-	2	211	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MCOLN3_ENST00000370587.1_Silent_p.F53F|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	53					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F53F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393																																						ENST00000370587.1																			1	Substitution - coding silent(1)	p.F53F(1)	prostate(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(157-159)ttC>ttT		mucolipin 3							93.0	93.0	93.0					1																	85510885		2202	4300	6502	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85510885G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.159C>T	1.37:g.85510885G>A						WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.F53F|MCOLN3_ENST00000341115.4_Silent_p.F53F	p.F53F			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	535	-			53					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.159C>T	CCDS701.1																																																																																				0.393	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		7	140	0	0	0	1	0	7	140				
PIAS3	10401	broad.mit.edu	37	1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	ENST00000393045.2	+	6	814	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V|PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	242	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587																																						ENST00000393045.2																			3	Substitution - Missense(3)	p.I242V(2)|p.I233V(1)	prostate(3)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(724-726)Atc>Gtc		protein inhibitor of activated STAT, 3							113.0	114.0	114.0					1																	145580242		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580242A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.724A>G	1.37:g.145580242A>G	ENSP00000376765:p.Ile242Val					PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	p.I242V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			6	814	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		242			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.724A>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233705	0.58886	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.08	5.08	0.68730	PINIT domain (1);	0.000000	0.64402	D	0.000006	T	0.20333	0.0489	N	0.16368	0.405	0.46749	D	0.999187	P;P	0.52842	0.924;0.956	P;P	0.55161	0.77;0.728	T	0.03739	-1.1008	10	0.14656	T	0.56	-17.6562	12.8399	0.57794	1.0:0.0:0.0:0.0	.	233;242	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	V	233;233;242;207	ENSP00000376766:I233V;ENSP00000358305:I233V;ENSP00000376765:I242V;ENSP00000358304:I207V	ENSP00000358304:I207V	I	+	1	0	PIAS3	144291599	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.627000	0.54252	2.144000	0.66660	0.459000	0.35465	ATC		0.587	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		14	205	0	0	0	1	0	14	205				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	76	0	0	0	1	0	3	76				
RETSAT	54884	broad.mit.edu	37	2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C	rs370614781		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	ENST00000295802.4	-	7	1288	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592																																						ENST00000295802.4																			1	Substitution - Missense(1)	p.I392M(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1174-1176)atC>atG		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						122.0	98.0	106.0					2																	85571797		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571797G>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1176C>G	2.37:g.85571797G>C	ENSP00000295802:p.Ile392Met					RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR	p.I392M	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			7	1288	-			392					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1176C>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.931|8.931	0.963352|0.963352	0.18583|0.18583	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375	T;T|.	0.25579|.	1.85;1.79|.	4.62|4.62	3.74|3.74	0.42951|0.42951	.|.	0.296266|.	0.36740|.	N|.	0.002436|.	T|T	0.68044|0.68044	0.2958|0.2958	M|M	0.82716|0.82716	2.605|2.605	0.37530|0.37530	D|D	0.917876|0.917876	B;B;B|.	0.34147|.	0.438;0.438;0.311|.	B;B;B|.	0.38378|.	0.255;0.255;0.272|.	T|T	0.71629|0.71629	-0.4535|-0.4535	10|5	0.72032|.	D|.	0.01|.	-19.2192|-19.2192	7.5365|7.5365	0.27712|0.27712	0.1987:0.0:0.8013:0.0|0.1987:0.0:0.8013:0.0	.|.	331;331;392|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	M|C	392;392;331|181	ENSP00000295802:I392M;ENSP00000405040:I331M|.	ENSP00000263854:I392M|.	I|S	-|-	3|2	3|0	RETSAT|RETSAT	85425308|85425308	0.170000|0.170000	0.23016|0.23016	0.973000|0.973000	0.42090|0.42090	0.011000|0.011000	0.07611|0.07611	-0.513000|-0.513000	0.06305|0.06305	1.068000|1.068000	0.40764|0.40764	0.561000|0.561000	0.74099|0.74099	ATC|TCT		0.592	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		3	77	0	0	0	1	0	3	77				
CDH17	1015	broad.mit.edu	37	8	95158181	95158181	+	Silent	SNP	G	G	A	rs147500239	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95158181G>A	ENST00000027335.3	-	15	2266	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CDH17_ENST00000450165.2_Silent_p.N714N|CDH17_ENST00000441892.2_Silent_p.N500N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	714	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.N714N(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCCCAGTCGTTTTGTAAGC	0.408																																						ENST00000027335.3																			1	Substitution - coding silent(1)	p.N714N(1)	prostate(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2140-2142)aaC>aaT		cadherin 17, LI cadherin (liver-intestine)		G	,	0,4406		0,0,2203	84.0	84.0	84.0		2142,2142	-12.1	0.0	8	dbSNP_134	84	3,8597	3.0+/-9.4	1,1,4298	no	coding-synonymous,coding-synonymous	CDH17	NM_001144663.1,NM_004063.3	,	1,1,6501	AA,AG,GG		0.0349,0.0,0.0231	,	714/833,714/833	95158181	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95158181G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2142C>T	8.37:g.95158181G>A						CDH17_ENST00000450165.2_Silent_p.N714N|CDH17_ENST00000441892.2_Silent_p.N500N	p.N714N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		15	2266	-	Breast(36;4.65e-06)		714			Cadherin 7.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.2142C>T	CCDS6260.1																																																																																				0.408	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		37	108	0	0	0	1	0	37	108				
ACAD10	80724	broad.mit.edu	37	12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	ENST00000313698.4	+	7	1077	c.922G>A	c.(922-924)Gat>Aat	p.D308N	ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.D339N|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	308						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.D308N(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1015-1017)Gat>Aat		acyl-CoA dehydrogenase family, member 10							188.0	184.0	185.0					12																	112153696		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112153696G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.922G>A	12.37:g.112153696G>A	ENSP00000325137:p.Asp308Asn					ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	p.D339N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			8	1192	+			308					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1015G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	6.888	0.533281	0.13188	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.30981	1.51;1.51;1.51	5.1	4.2	0.49525	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.693460	0.15077	N	0.281876	T	0.25791	0.0628	L	0.33668	1.02	0.54753	D	0.999989	B;B;B;B	0.23990	0.072;0.027;0.026;0.095	B;B;B;B	0.31614	0.133;0.02;0.039;0.037	T	0.05818	-1.0862	10	0.45353	T	0.12	.	8.955	0.35812	0.0:0.6225:0.2981:0.0794	.	339;46;308;308	G3XAJ0;F8W0Q4;Q6JQN1;Q6JQN1-2	.;.;ACD10_HUMAN;.	N	308;308;339;308;46;46	ENSP00000446959:D308N;ENSP00000389813:D339N;ENSP00000325137:D308N	ENSP00000325137:D308N	D	+	1	0	ACAD10	110638079	0.032000	0.19561	0.848000	0.33437	0.283000	0.27025	0.519000	0.22862	1.262000	0.44165	-0.165000	0.13383	GAT		0.488	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		29	387	0	0	0	1	0	29	387				
TANGO6	79613	broad.mit.edu	37	16	69056743	69056743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:69056743C>G	ENST00000261778.1	+	16	2867	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	952						integral component of membrane (GO:0016021)		p.S952*(1)|p.S481*(1)									GACATGGTCTCAAAGTACCGA	0.438																																						ENST00000261778.1																			2	Substitution - Nonsense(2)	p.S952*(1)|p.S481*(1)	prostate(2)								c.(2854-2856)tCa>tGa		transport and golgi organization 6 homolog (Drosophila)							40.0	37.0	38.0					16																	69056743		1868	4103	5971	SO:0001587	stop_gained	79613							g.chr16:69056743C>G		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2855C>G	16.37:g.69056743C>G	ENSP00000261778:p.Ser952*						p.S952*	NM_024562.1	NP_078838.1					16	2867	+								Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.2855C>G	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	38	7.274320	0.98179	.	.	ENSG00000103047	ENST00000261778	.	.	.	4.36	4.36	0.52297	.	0.719074	0.13518	N	0.381904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-1.4596	6.8449	0.23982	0.0:0.7979:0.0:0.2021	.	.	.	.	X	952	.	ENSP00000261778:S952X	S	+	2	0	TMCO7	67614244	0.097000	0.21791	1.000000	0.80357	0.988000	0.76386	1.334000	0.33827	1.968000	0.57251	0.442000	0.29010	TCA		0.438	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	11	0	0	0	1	0	3	11				
PDE2A	5138	broad.mit.edu	37	11	72295684	72295684	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:72295684G>T	ENST00000334456.5	-	18	1693	c.1448C>A	c.(1447-1449)gCc>gAc	p.A483D	PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	483	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.A483D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AAGCGGATGGGCATATGCGTC	0.642																																						ENST00000334456.5																			1	Substitution - Missense(1)	p.A483D(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1447-1449)gCc>gAc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						50.0	49.0	49.0					11																	72295684		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295684G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1448C>A	11.37:g.72295684G>T	ENSP00000334910:p.Ala483Asp					PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D	p.A483D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1693	-			483			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1448C>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985186	0.74474	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.51	5.51	0.81932	GAF (2);	0.071636	0.56097	D	0.000026	T	0.48786	0.1519	N	0.17838	0.53	0.58432	D	0.999998	P;B;B;P;B;P	0.40302	0.712;0.279;0.279;0.71;0.279;0.558	B;B;B;B;B;B	0.35859	0.212;0.17;0.135;0.127;0.17;0.099	T	0.53830	-0.8383	10	0.48119	T	0.1	.	17.9914	0.89170	0.0:0.0:1.0:0.0	.	368;483;474;476;483;227	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	D	483;227;474;552;476;368;474;307	ENSP00000334910:A483D;ENSP00000365633:A227D;ENSP00000411657:A474D;ENSP00000442256:A476D;ENSP00000410310:A368D;ENSP00000446399:A474D;ENSP00000439077:A307D	ENSP00000334910:A483D	A	-	2	0	PDE2A	71973332	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.798000	0.85924	2.579000	0.87056	0.561000	0.74099	GCC		0.642	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		6	26	1	0	0.000673444	1	0.000712728	6	26				
BET1	10282	broad.mit.edu	37	7	93633528	93633528	+	Start_Codon_SNP	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:93633528T>A	ENST00000222547.3	-	1	159	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	1					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M1L(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCACGCCTCATCCTGCCAGAG	0.632																																						ENST00000222547.3																			1	Substitution - Missense(1)	p.M1L(1)	prostate(1)	large_intestine(2)|lung(1)|prostate(1)|skin(1)	5						c.(1-3)Atg>Ttg		Bet1 golgi vesicular membrane trafficking protein							63.0	69.0	67.0					7																	93633528		2203	4300	6503	SO:0001582	initiator_codon_variant	10282				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr7:93633528T>A	AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.1A>T	7.37:g.93633528T>A	ENSP00000222547:p.Met1Leu					BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L	p.M1L	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		1	159	-	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	1					Q96EA0	Translation_Start_Site	SNP	ENST00000222547.3	37	c.1A>T	CCDS5635.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784665	0.90282	.	.	ENSG00000105829	ENST00000222547;ENST00000433727;ENST00000425626	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	T	0.69033	0.3066	.	.	.	0.80722	D	1	P	0.48016	0.904	P	0.58780	0.845	T	0.72290	-0.4337	7	0.87932	D	0	.	10.0058	0.41957	0.0:0.0:0.0:1.0	.	1	O15155	BET1_HUMAN	L	1	.	ENSP00000222547:M1L	M	-	1	0	BET1	93471464	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.351000	0.59398	2.123000	0.65237	0.459000	0.35465	ATG		0.632	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255181.2	NM_005868	Missense_Mutation	37	76	0	0	0	1	0	37	76				
ABCG5	64240	broad.mit.edu	37	2	44040309	44040309	+	Silent	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	ENST00000260645.1	-	13	2041	c.1902T>A	c.(1900-1902)ctT>ctA	p.L634L	ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000543989.1_Silent_p.L239L	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	634	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.L634L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTAGGATGACAAGAGCTGGAA	0.403																																						ENST00000543989.1																			1	Substitution - coding silent(1)	p.L634L(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(715-717)ctT>ctA		ATP-binding cassette, sub-family G (WHITE), member 5							93.0	91.0	92.0					2																	44040309		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44040309A>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1902T>A	2.37:g.44040309A>T						ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000260645.1_Silent_p.L634L	p.L239L			Q9H222	ABCG5_HUMAN			9	2422	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	634			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.717T>A	CCDS1814.1																																																																																				0.403	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		26	60	0	0	0	1	0	26	60				
SYNE1	23345	broad.mit.edu	37	6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5132					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T5132S(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.T5132S(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15394-15396)Act>Tct		spectrin repeat containing, nuclear envelope 1							114.0	117.0	116.0					6																	152647137		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647137T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15394A>T	6.37:g.152647137T>A	ENSP00000356224:p.Thr5132Ser	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S	p.T5132S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	80	15995	-		Ovarian(120;0.0955)	5132					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15394A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203426	0.22121	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.54866	0.65;0.65;0.55;0.65	6.07	-1.9	0.07665	.	0.496979	0.19918	N	0.103157	T	0.21801	0.0525	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.16802	0.019;0.011;0.011;0.019	B;B;B;B	0.21360	0.034;0.009;0.009;0.031	T	0.33979	-0.9847	10	0.09338	T	0.73	.	13.0479	0.58937	0.0:0.7176:0.0:0.2824	.	5132;5132;5132;5061	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5132;5061;5132;5061	ENSP00000356224:T5132S;ENSP00000396024:T5061S;ENSP00000265368:T5132S;ENSP00000390975:T5061S	ENSP00000265368:T5132S	T	-	1	0	SYNE1	152688830	0.411000	0.25384	0.966000	0.40874	0.254000	0.26022	0.203000	0.17315	-0.251000	0.09542	-0.899000	0.02877	ACT		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		46	79	0	0	0	1	0	46	79				
SLC38A2	54407	broad.mit.edu	37	12	46757763	46757763	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000551374.1_Silent_p.L137L|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	299					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.L299L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			1	Substitution - coding silent(1)	p.L299L(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(895-897)ctG>ctC		solute carrier family 38, member 2							81.0	76.0	78.0					12																	46757763		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757763C>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.897G>C	12.37:g.46757763C>G						SLC38A2_ENST00000551374.1_Silent_p.L137L	p.L299L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	11	1341	-	Lung SC(27;0.192)|Renal(347;0.236)		299					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.897G>C	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			14	30	0	0	0	1	0	14	30				
FAM214A	56204	broad.mit.edu	37	15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52877000T>G	ENST00000261844.7	-	12	3171	c.3019A>C	c.(3019-3021)Aat>Cat	p.N1007H	FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1007								p.N1007H(1)									TTCTCTTTATTAACACTTCTC	0.348																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.N1007H(1)	prostate(1)								c.(3019-3021)Aat>Cat		family with sequence similarity 214, member A							160.0	158.0	159.0					15																	52877000		1863	4103	5966	SO:0001583	missense	56204							g.chr15:52877000T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3019A>C	15.37:g.52877000T>G	ENSP00000261844:p.Asn1007His					FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA	p.N1007H	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			12	3171	-			1007					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.3019A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877114	0.51801	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.34472	1.36;1.36	5.3	0.126	0.14722	.	0.338059	0.38326	N	0.001740	T	0.33381	0.0861	N	0.12182	0.205	0.37371	D	0.911621	D;P	0.54047	0.964;0.939	D;P	0.63703	0.917;0.827	T	0.27400	-1.0075	10	0.59425	D	0.04	.	8.6375	0.33957	0.0:0.0651:0.3721:0.5629	.	1014;1007	F5H8G0;Q32MH5	.;K1370_HUMAN	H	1007;1007;1014	ENSP00000261844:N1007H;ENSP00000443598:N1014H	ENSP00000261844:N1007H	N	-	1	0	KIAA1370	50664292	1.000000	0.71417	0.650000	0.29550	0.838000	0.47535	3.222000	0.51223	-0.160000	0.11002	-0.539000	0.04255	AAT		0.348	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		14	53	0	0	0	1	0	14	53				
THTPA	79178	broad.mit.edu	37	14	24027979	24027979	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:24027979G>A	ENST00000288014.6	+	2	1359	c.623G>A	c.(622-624)cGc>cAc	p.R208H	THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|THTPA_ENST00000554789.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_3'UTR			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	208					dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)	p.R208H(1)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GACTATCAGCGCCTGCTAGAA	0.547											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288014.6																			1	Substitution - Missense(1)	p.R208H(1)	prostate(1)	large_intestine(1)|prostate(2)	3						c.(622-624)cGc>cAc		thiamine triphosphatase	Thiamine(DB00152)						83.0	81.0	81.0					14																	24027979		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24027979G>A	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.623G>A	14.37:g.24027979G>A	ENSP00000288014:p.Arg208His		OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H	p.R208H			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1359	+	all_cancers(95;0.000251)		208					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.623G>A	CCDS32053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.953810|3.953810	0.73902|0.73902	.|.	.|.	ENSG00000157306|ENSG00000157306	ENST00000556545|ENST00000404535;ENST00000288014;ENST00000554970	.|T;T;T	.|0.46063	.|0.88;0.88;0.97	6.03|6.03	1.98|1.98	0.26296|0.26296	.|CYTH domain (1);	.|0.358488	.|0.32357	.|N	.|0.006209	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.04013	.|0.001	T|T	0.05699|0.05699	-1.0869|-1.0869	5|10	.|0.40728	.|T	.|0.16	-1.9336|-1.9336	4.3352|4.3352	0.11083|0.11083	0.2663:0.0:0.5605:0.1732|0.2663:0.0:0.5605:0.1732	.|.	.|208	.|Q9BU02	.|THTPA_HUMAN	T|H	38|208;208;118	.|ENSP00000384580:R208H;ENSP00000288014:R208H;ENSP00000452465:R118H	.|ENSP00000288014:R208H	A|R	+|+	1|2	0|0	THTPA|THTPA	23097819|23097819	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	0.470000|0.470000	0.22084|0.22084	0.096000|0.096000	0.17463|0.17463	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			21	80	0	0	0	1	0	21	80				
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	237	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.S237*(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373																																						ENST00000433389.2																		ESRP1/RAF1(4)	2	Substitution - Nonsense(2)	p.S237*(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(709-711)tCa>tGa		epithelial splicing regulatory protein 1							140.0	129.0	132.0					8																	95676990		1897	4121	6018	SO:0001587	stop_gained	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95676990C>G	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.710C>G	8.37:g.95676990C>G	ENSP00000405738:p.Ser237*					ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*	p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			7	900	+			237			RRM 1.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Nonsense_Mutation	SNP	ENST00000433389.2	37	c.710C>G	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.377217|7.377217	0.98245|0.98245	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.81903|.	0.4921|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83303|.	-0.0027|.	3|.	.|0.72032	.|D	.|0.01	-4.979|-4.979	19.798|19.798	0.96494|0.96494	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	102|237;237;237;237;20;96	.|.	.|ENSP00000351168:S237X	F|S	+|+	3|2	2|0	ESRP1|ESRP1	95746166|95746166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.373	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		32	96	0	0	0	1	0	32	96				
ZNF556	80032	broad.mit.edu	37	19	2878237	2878237	+	Silent	SNP	C	C	T	rs540339084		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:2878237C>T	ENST00000307635.2	+	4	1368	c.1281C>T	c.(1279-1281)tgC>tgT	p.C427C	ZNF556_ENST00000586426.1_Silent_p.C426C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448																																						ENST00000586426.1																			4	Substitution - coding silent(4)	p.C427C(4)	large_intestine(2)|prostate(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1276-1278)tgC>tgT		zinc finger protein 556							101.0	112.0	108.0					19																	2878237		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878237C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1281C>T	19.37:g.2878237C>T						ZNF556_ENST00000307635.2_Silent_p.C427C	p.C426C			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1365	+			427					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.1278C>T	CCDS12097.1																																																																																				0.448	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		5	192	0	0	0	1	0	5	192				
SF3A1	10291	broad.mit.edu	37	22	30736751	30736751	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	ENST00000215793.8	-	8	1276	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	SF3A1_ENST00000439242.1_Silent_p.T309T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	374					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T374T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582																																						ENST00000439242.1																			1	Substitution - coding silent(1)	p.T374T(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(925-927)acA>acG		splicing factor 3a, subunit 1, 120kDa							87.0	86.0	86.0					22																	30736751		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736751T>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1122A>G	22.37:g.30736751T>C						SF3A1_ENST00000215793.7_Silent_p.T374T	p.T309T	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			8	1058	-			374					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.927A>G	CCDS13875.1																																																																																				0.582	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		59	112	0	0	0	1	0	59	112				
INADL	10207	broad.mit.edu	37	1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1288	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L1288V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443																																						ENST00000371158.2																			1	Substitution - Missense(1)	p.L1288V(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3862-3864)Tta>Gta		InaD-like (Drosophila)							67.0	65.0	65.0					1																	62456031		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62456031T>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3862T>G	1.37:g.62456031T>G	ENSP00000360200:p.Leu1288Val					INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR	p.L1288V	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3976	+			1288			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3862T>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409450	0.42715	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.73	0.944	0.19537	PDZ/DHR/GLGF (4);	0.217060	0.29260	N	0.012669	T	0.37019	0.0988	L	0.52823	1.66	0.80722	D	1	B;B;B;B;B	0.25235	0.121;0.022;0.01;0.007;0.009	B;B;B;B;B	0.40375	0.327;0.091;0.091;0.104;0.053	T	0.21793	-1.0235	10	0.56958	D	0.05	.	5.8511	0.18694	0.0:0.2811:0.1346:0.5843	.	72;747;1288;1288;1288	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	V	1288;1288;1288;1288;72;72	ENSP00000360200:L1288V;ENSP00000326199:L1288V;ENSP00000307496:L72V;ENSP00000445790:L72V	ENSP00000307496:L72V	L	+	1	2	INADL	62228619	0.989000	0.36119	0.943000	0.38184	0.612000	0.37316	1.256000	0.32921	0.121000	0.18284	0.533000	0.62120	TTA		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	54	0	0	0	1	0	8	54				
CFAP54	144535	broad.mit.edu	37	12	97098576	97098576	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:97098576T>C	ENST00000524981.4	+	47	6551		c.e47+2					Q96N23	CL055_HUMAN										p.?(1)									AATATACAGGTAAGGATAATA	0.284																																						ENST00000524981.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.e14+2									28.0	30.0	29.0					12																	97098576		2173	4239	6412	SO:0001630	splice_region_variant	0							g.chr12:97098576T>C																												ENST00000524981.4:c.6528+2T>C	12.37:g.97098576T>C										Q6ZTY8	CL063_HUMAN			14	1881	+									Splice_Site	SNP	ENST00000524981.4	37			.	.	.	.	.	.	.	.	.	.	T	18.29	3.590618	0.66219	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8069	0.46522	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95622707	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.680000	0.54641	2.041000	0.60428	0.455000	0.32223	.		0.284	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Intron	26	27	0	0	0	1	0	26	27				
NYAP2	57624	broad.mit.edu	37	2	226447105	226447105	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:226447105G>A	ENST00000272907.6	+	4	1385	c.972G>A	c.(970-972)ccG>ccA	p.P324P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	324	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P324P(1)									ACATCCCTCCGCCCTTCCCCA	0.647																																						ENST00000272907.6																			1	Substitution - coding silent(1)	p.P324P(1)	prostate(1)								c.(970-972)ccG>ccA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							43.0	46.0	45.0					2																	226447105		1949	4125	6074	SO:0001819	synonymous_variant	57624							g.chr2:226447105G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.972G>A	2.37:g.226447105G>A						NYAP2_ENST00000409269.2_Intron	p.P324P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1385	+			324			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.972G>A	CCDS46529.1																																																																																				0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		8	40	0	0	0	1	0	8	40				
PEG10	23089	broad.mit.edu	37	7	94293408	94293408	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	ENST00000482108.1	+	2	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_ENST00000488574.1_Silent_p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	180	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S180S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547																																						ENST00000482108.1																			1	Substitution - coding silent(1)	p.S180S(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(538-540)tcT>tcC		paternally expressed 10							140.0	146.0	144.0					7																	94293408		2020	4188	6208	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293408T>C	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.540T>C	7.37:g.94293408T>C						PEG10_ENST00000488574.1_Silent_p.S180S	p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1019	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		180			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.540T>C	CCDS55126.1																																																																																				0.547	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		25	271	0	0	0	1	0	25	271				
B3GNT3	10331	broad.mit.edu	37	19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	ENST00000318683.6	+	3	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	286					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.A286P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602																																						ENST00000318683.6																			1	Substitution - Missense(1)	p.A286P(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(856-858)Gct>Cct		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							112.0	97.0	102.0					19																	17922668		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922668G>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.856G>C	19.37:g.17922668G>C	ENSP00000321874:p.Ala286Pro					B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			3	1003	+			286					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.856G>C	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720153	0.30503	.	.	ENSG00000179913	ENST00000318683	T	0.50277	0.75	5.23	4.19	0.49359	.	0.307908	0.34507	N	0.003908	T	0.73783	0.3631	M	0.93420	3.415	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.68746	-0.5327	10	0.62326	D	0.03	.	11.0923	0.48123	0.0:0.0:0.6634:0.3366	.	286	Q9Y2A9	B3GN3_HUMAN	P	286	ENSP00000321874:A286P	ENSP00000321874:A286P	A	+	1	0	B3GNT3	17783668	0.000000	0.05858	0.142000	0.22268	0.002000	0.02628	1.109000	0.31135	1.221000	0.43506	-0.226000	0.12346	GCT		0.602	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		32	114	0	0	0	1	0	32	114				
TRIM74	378108	broad.mit.edu	37	7	72430608	72430608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:72430608G>T	ENST00000285805.3	-	4	869	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	224						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q224K(1)		prostate(1)	1						CACTCGGCTTGGGCCAGCCGC	0.672																																						ENST00000285805.3																			1	Substitution - Missense(1)	p.Q224K(1)	prostate(1)	prostate(1)	1						c.(670-672)Caa>Aaa		tripartite motif containing 74							68.0	71.0	70.0					7																	72430608		2190	4297	6487	SO:0001583	missense	378108					intracellular	zinc ion binding	g.chr7:72430608G>T	AF498999	CCDS5545.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000155428	ENSG00000155428		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	17453	protein-coding gene	gene with protein product		612550	"""tripartite motif-containing 50C"", ""tripartite motif-containing 74"""	TRIM50C			Standard	NM_198853		Approved	MGC45440		Q86UV6	OTTHUMG00000129851	ENST00000285805.3:c.670C>A	7.37:g.72430608G>T	ENSP00000285805:p.Gln224Lys					TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K	p.Q224K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN			4	869	-			224					B7WP46	Missense_Mutation	SNP	ENST00000285805.3	37	c.670C>A	CCDS5545.1	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080617	0.20309	.	.	ENSG00000155428	ENST00000395244;ENST00000285805	T;T	0.68181	-0.31;-0.29	2.35	2.35	0.29111	.	0.263446	0.25487	N	0.030337	T	0.44705	0.1306	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.19200	0.008;0.034	B;B	0.20955	0.02;0.032	T	0.19063	-1.0317	10	0.10377	T	0.69	.	9.0168	0.36175	0.0:0.2297:0.7703:0.0	.	93;224	C9JQH3;Q86UV6-2	.;.	K	224	ENSP00000378665:Q224K;ENSP00000285805:Q224K	ENSP00000285805:Q224K	Q	-	1	0	TRIM74	72068544	0.997000	0.39634	0.832000	0.32986	0.650000	0.38633	3.388000	0.52509	1.313000	0.45069	0.184000	0.17185	CAA		0.672	TRIM74-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252093.1	NM_198853		5	80	1	0	0.0293803	1	0.0298504	5	80				
USP2	9099	broad.mit.edu	37	11	119228895	119228895	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:119228895G>A	ENST00000260187.2	-	8	1599	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	USP2_ENST00000455332.2_Silent_p.F192F|USP2_ENST00000525735.1_Silent_p.F226F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	435	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F435F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGGGGTCGAAGACCGTAG	0.517																																						ENST00000260187.2																			2	Substitution - coding silent(2)	p.F435F(2)	prostate(2)	breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(1303-1305)ttC>ttT		ubiquitin specific peptidase 2							101.0	94.0	97.0					11																	119228895		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119228895G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1305C>T	11.37:g.119228895G>A						USP2_ENST00000525735.1_Silent_p.F226F|USP2_ENST00000455332.2_Silent_p.F192F	p.F435F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	8	1599	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	435			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.1305C>T	CCDS8422.1																																																																																				0.517	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		33	70	0	0	0	1	0	33	70				
TLN1	7094	broad.mit.edu	37	9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	ENST00000314888.9	-	30	4359	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1336	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A1336S(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557																																						ENST00000314888.9																			2	Substitution - Missense(2)	p.A1336S(2)	prostate(2)	NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4006-4008)Gct>Tct		talin 1							46.0	45.0	45.0					9																	35711265		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35711265C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4006G>T	9.37:g.35711265C>A	ENSP00000316029:p.Ala1336Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		30	4359	-	all_epithelial(49;0.167)		1336			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4006G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835695	0.50951	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30448	1.53;1.53	5.82	4.93	0.64822	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.35854	1.095	0.80722	D	1	B	0.29085	0.232	B	0.38056	0.264	T	0.04268	-1.0964	10	0.12430	T	0.62	-9.7817	15.1356	0.72562	0.0:0.9322:0.0:0.0678	.	1336	Q9Y490	TLN1_HUMAN	S	1336	ENSP00000316029:A1336S;ENSP00000442981:A1336S	ENSP00000316029:A1336S	A	-	1	0	TLN1	35701265	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.084000	0.71335	1.473000	0.48159	-0.254000	0.11334	GCT		0.557	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	65	1	0	5.18039e-06	1	5.57551e-06	4	65				
NUP43	348995	broad.mit.edu	37	6	150048281	150048281	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:150048281G>A	ENST00000340413.2	-	8	1043	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	323					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.H323Y(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAGACTGGTGAACATTAGCT	0.393																																						ENST00000340413.2																			1	Substitution - Missense(1)	p.H323Y(1)	prostate(1)	breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(967-969)Cac>Tac		nucleoporin 43kDa							104.0	95.0	98.0					6																	150048281		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150048281G>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.967C>T	6.37:g.150048281G>A	ENSP00000342262:p.His323Tyr					NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y|NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y	p.H323Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	8	1043	-		Ovarian(120;0.0164)	323					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.967C>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707655	0.15239	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.66815	1.99;1.99;-0.23	5.74	3.79	0.43588	WD40 repeat-like-containing domain (1);	0.136787	0.64402	D	0.000005	T	0.22781	0.0550	N	0.03608	-0.345	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.14023	0.01;0.001	T	0.11690	-1.0577	10	0.41790	T	0.15	-6.6814	7.6953	0.28592	0.0:0.1327:0.5591:0.3081	.	227;323	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	323;323;227	ENSP00000342262:H323Y;ENSP00000432401:H323Y;ENSP00000356374:H227Y	ENSP00000342262:H323Y	H	-	1	0	NUP43	150089974	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.792000	0.47837	1.437000	0.47472	-0.234000	0.12200	CAC		0.393	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		8	70	0	0	0	1	0	8	70				
EMR2	30817	broad.mit.edu	37	19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	rs146763976		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.A521V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1561-1563)gCc>gTc		egf-like module containing, mucin-like, hormone receptor-like 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	160.0	120.0	134.0		1562,1415,1283,1136,1529,1382,1250	4.1	1.0	19	dbSNP_134	134	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	521/824,472/775,428/731,379/682,510/813,461/764,417/720	14865794	1,13005	2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865794G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1562C>T	19.37:g.14865794G>A	ENSP00000319883:p.Ala521Val					EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V	p.A521V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			14	2013	-			521			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1562C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075929	0.55646	2.27E-4	0.0	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.90342	0.6978	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.999;0.999;0.995	D	0.92444	0.5964	9	0.87932	D	0	.	12.4281	0.55559	0.0:0.0:1.0:0.0	.	428;521;379;472;521;521;510	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	V	521;510;472;428;379	ENSP00000319883:A521V;ENSP00000376694:A510V;ENSP00000263380:A472V;ENSP00000319454:A428V;ENSP00000319838:A379V	ENSP00000319883:A521V	A	-	2	0	EMR2	14726794	1.000000	0.71417	0.957000	0.39632	0.010000	0.07245	6.542000	0.73869	2.172000	0.68678	0.508000	0.49915	GCC		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			5	103	0	0	0	1	0	5	103				
TTC30B	150737	broad.mit.edu	37	2	178416809	178416809	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:178416809C>T	ENST00000408939.3	-	1	933	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.G228D(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGTGGTCATGCCCACACCTAG	0.522																																						ENST00000408939.2																			2	Substitution - Missense(2)	p.G228D(2)	prostate(1)|kidney(1)	cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(682-684)gGc>gAc		tetratricopeptide repeat domain 30B							81.0	79.0	80.0					2																	178416809		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416809C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.683G>A	2.37:g.178416809C>T	ENSP00000386181:p.Gly228Asp						p.G228D	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	933	-			228					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.683G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669288	0.67814	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.25085	1.82	4.65	3.76	0.43208	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69394	-0.5157	10	0.59425	D	0.04	.	14.4687	0.67501	0.1483:0.8517:0.0:0.0	.	228	Q8N4P2	TT30B_HUMAN	D	181;228	ENSP00000386181:G228D	ENSP00000386181:G228D	G	-	2	0	TTC30B	178125055	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.848000	0.69458	1.282000	0.44496	0.655000	0.94253	GGC		0.522	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		4	118	0	0	0	1	0	4	118				
ADAM20	8748	broad.mit.edu	37	14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:70989752G>C	ENST00000256389.3	-	2	2117	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	575	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L625V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCTCTATCAGATTGGGAATT	0.448																																						ENST00000256389.3																			1	Substitution - Missense(1)	p.L625V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1873-1875)Ctg>Gtg		ADAM metallopeptidase domain 20							183.0	113.0	137.0					14																	70989752		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989752G>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1873C>G	14.37:g.70989752G>C	ENSP00000256389:p.Leu625Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.L625V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2117	-			575			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1873C>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191202	0.38707	.	.	ENSG00000134007	ENST00000256389	T	0.22945	1.93	4.66	-1.06	0.10002	ADAM, cysteine-rich (2);	0.263088	0.19245	N	0.119074	T	0.35364	0.0929	M	0.75085	2.285	0.09310	N	1	P	0.46952	0.887	P	0.59221	0.854	T	0.22941	-1.0202	10	0.62326	D	0.03	.	0.295	0.00264	0.3624:0.1409:0.2108:0.2859	.	575	O43506	ADA20_HUMAN	V	625	ENSP00000256389:L625V	ENSP00000256389:L625V	L	-	1	2	ADAM20	70059505	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.225000	0.09151	0.114000	0.18032	-0.225000	0.12378	CTG		0.448	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			3	131	0	0	0	1	0	3	131				
MOXD1	26002	broad.mit.edu	37	6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	ENST00000367963.3	-	2	517	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	133	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.D65E(1)|p.D133E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.D65E(1)|p.D133E(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(397-399)gaC>gaA		monooxygenase, DBH-like 1							221.0	208.0	212.0					6																	132695782		2202	4298	6500	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695782G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.399C>A	6.37:g.132695782G>T	ENSP00000356940:p.Asp133Glu					MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	p.D133E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	517	-	Breast(56;0.0495)		133			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.399C>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546030	0.65198	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	D;D	0.82255	-1.59;-1.59	5.62	2.48	0.30137	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.85130	0.997;0.841	D	0.90591	0.4537	10	0.87932	D	0	-14.1441	8.9321	0.35677	0.4144:0.0:0.5856:0.0	.	133;65	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	E	133;65	ENSP00000356940:D133E;ENSP00000336998:D65E	ENSP00000336998:D65E	D	-	3	2	MOXD1	132737475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.949000	0.29109	0.746000	0.32786	0.655000	0.94253	GAC		0.343	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		61	156	1	0	6.07242e-22	1	6.94773e-22	61	156				
KIAA1551	55196	broad.mit.edu	37	12	32135815	32135815	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:32135815C>T	ENST00000312561.4	+	4	2340	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	642								p.G642G(1)									ATGTAAGTGGCAGGGTTTTGG	0.413																																						ENST00000312561.4																			1	Substitution - coding silent(1)	p.G642G(1)	prostate(1)								c.(1924-1926)ggC>ggT		KIAA1551							62.0	59.0	60.0					12																	32135815		2203	4299	6502	SO:0001819	synonymous_variant	55196							g.chr12:32135815C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1926C>T	12.37:g.32135815C>T						KIAA1551_ENST00000535596.1_Intron	p.G642G	NM_018169.3	NP_060639.3					4	2340	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.1926C>T	CCDS8725.2																																																																																				0.413	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		30	47	0	0	0	1	0	30	47				
CHSY3	337876	broad.mit.edu	37	5	129520761	129520761	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:129520761A>G	ENST00000305031.4	+	3	2284	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.E642E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAACTTTGAAAACATGTGTC	0.403																																						ENST00000305031.4																			1	Substitution - coding silent(1)	p.E642E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1924-1926)gaA>gaG		chondroitin sulfate synthase 3							80.0	82.0	81.0					5																	129520761		2203	4300	6503	SO:0001819	synonymous_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520761A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1926A>G	5.37:g.129520761A>G							p.E642E	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2284	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	642					B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.1926A>G	CCDS34223.1																																																																																				0.403	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		3	161	0	0	0	1	0	3	161				
SLC22A16	85413	broad.mit.edu	37	6	110752470	110752470	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:110752470C>T	ENST00000368919.3	-	7	1491	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	SLC22A16_ENST00000439654.1_Silent_p.S475S|SLC22A16_ENST00000330550.4_Silent_p.S441S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	475					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.S475S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CCACAGCCAGCGATCTGGAAA	0.587																																						ENST00000368919.3																			1	Substitution - coding silent(1)	p.S475S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)tcG>tcA		solute carrier family 22 (organic cation/carnitine transporter), member 16							61.0	56.0	57.0					6																	110752470		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110752470C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1425G>A	6.37:g.110752470C>T						SLC22A16_ENST00000330550.4_Silent_p.S441S|SLC22A16_ENST00000439654.1_Silent_p.S475S	p.S475S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	7	1491	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	475					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1425G>A	CCDS5084.1																																																																																				0.587	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		16	23	0	0	0	1	0	16	23				
ADNP	23394	broad.mit.edu	37	20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	ENST00000396029.3	-	5	1853	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_ENST00000371602.4_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	429					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A429G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473																																						ENST00000396029.3																			1	Substitution - Missense(1)	p.A429G(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(1285-1287)gCt>gGt		activity-dependent neuroprotector homeobox							88.0	93.0	92.0					20																	49509965		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509965G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1286C>G	20.37:g.49509965G>C	ENSP00000379346:p.Ala429Gly					ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000371602.4_Missense_Mutation_p.A429G	p.A429G	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1853	-			429					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1286C>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	2.985	-0.209465	0.06140	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	4.97	0.65823	.	0.494363	0.25564	N	0.029801	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.13845	-1.0494	9	0.23302	T	0.38	-33.4433	11.9482	0.52940	0.1386:0.0:0.8614:0.0	.	429	Q9H2P0	ADNP_HUMAN	G	429	.	ENSP00000342905:A429G	A	-	2	0	ADNP	48943372	0.962000	0.33011	0.045000	0.18777	0.712000	0.41017	3.859000	0.55987	1.523000	0.49018	0.650000	0.86243	GCT		0.473	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		64	154	0	0	0	1	0	64	154				
GUCY2F	2986	broad.mit.edu	37	X	108718895	108718895	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	ENST00000218006.2	-	2	562	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	91					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L91V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			2	Substitution - Missense(2)	p.L91V(2)	prostate(2)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(271-273)Ctg>Gtg		guanylate cyclase 2F, retinal							99.0	99.0	99.0					X																	108718895		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718895G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.271C>G	X.37:g.108718895G>C	ENSP00000218006:p.Leu91Val		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.L91V	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	562	-			91					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.271C>G	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	0.131	-1.113582	0.01799	.	.	ENSG00000101890	ENST00000218006	D	0.82984	-1.67	4.67	1.84	0.25277	Extracellular ligand-binding receptor (1);	0.930610	0.09111	N	0.847099	T	0.76615	0.4012	L	0.55990	1.75	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.59225	-0.7494	10	0.26408	T	0.33	.	4.9665	0.14093	0.1948:0.0:0.6329:0.1724	.	91	P51841	GUC2F_HUMAN	V	91	ENSP00000218006:L91V	ENSP00000218006:L91V	L	-	1	2	GUCY2F	108605551	0.264000	0.24093	0.008000	0.14137	0.178000	0.23041	2.606000	0.46291	0.134000	0.18681	-0.215000	0.12644	CTG		0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		96	44	0	0	0	1	0	96	44				
ATL2	64225	broad.mit.edu	37	2	38525644	38525644	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:38525644G>A	ENST00000378954.4	-	12	1275	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	ATL2_ENST00000402054.1_Missense_Mutation_p.A254V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V|ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	425					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.A425V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTTATCGCCACTTCCTT	0.428																																						ENST00000378954.4																			2	Substitution - Missense(2)	p.A425V(2)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1273-1275)gCg>gTg		atlastin GTPase 2							136.0	134.0	135.0					2																	38525644		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525644G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1274C>T	2.37:g.38525644G>A	ENSP00000368237:p.Ala425Val					ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V|ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000402054.1_Missense_Mutation_p.A254V	p.A425V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1275	-			425					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1274C>T	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271028	0.80469	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.51	5.51	0.81932	Guanylate-binding protein, C-terminal (3);	0.107611	0.64402	D	0.000004	D	0.88093	0.6344	M	0.83384	2.64	0.54753	D	0.999989	P;D;D;D;D	0.76494	0.814;0.967;0.996;0.998;0.999	B;D;P;P;D	0.71870	0.251;0.943;0.905;0.896;0.975	D	0.89268	0.3602	10	0.87932	D	0	-12.4262	14.4003	0.67041	0.0:0.1474:0.8526:0.0	.	254;407;407;425;425	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	425;254;254;254;407;425;407;254	ENSP00000368237:A425V;ENSP00000385446:A254V;ENSP00000384062:A254V;ENSP00000446192:A254V;ENSP00000333393:A407V;ENSP00000415336:A425V;ENSP00000390743:A407V;ENSP00000438938:A254V	ENSP00000333393:A407V	A	-	2	0	ATL2	38379148	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	5.208000	0.65203	2.746000	0.94184	0.591000	0.81541	GCG		0.428	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		5	270	0	0	0	1	0	5	270				
HMCN1	83872	broad.mit.edu	37	1	186055463	186055463	+	Silent	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	ENST00000271588.4	+	58	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	HMCN1_ENST00000367492.2_Silent_p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G2990G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.G2990G(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8968-8970)ggT>ggG		hemicentin 1							119.0	113.0	115.0					1																	186055463		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186055463T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8970T>G	1.37:g.186055463T>G						HMCN1_ENST00000367492.2_Silent_p.G2990G	p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			58	9199	+			2990			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8970T>G	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		27	114	0	0	0	1	0	27	114				
BARD1	580	broad.mit.edu	37	2	215645851	215645851	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.I105I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	249					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I249I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			2	Substitution - coding silent(2)	p.I249I(2)	prostate(2)	NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(745-747)atC>atT		BRCA1 associated RING domain 1							62.0	66.0	64.0					2																	215645851		2203	4299	6502	SO:0001819	synonymous_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645851G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.747C>T	2.37:g.215645851G>A						BARD1_ENST00000449967.2_Silent_p.I105I|BARD1_ENST00000471787.1_5'UTR	p.I249I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	881	-		Renal(323;0.0243)	249					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.747C>T	CCDS2397.1																																																																																				0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		54	115	0	0	0	1	0	54	115				
ATG13	9776	broad.mit.edu	37	11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:46670720G>A	ENST00000434074.1	+	5	993	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	102					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.E102K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						ATGGTGTCTTGAAATGAATGA	0.353																																						ENST00000434074.1																			2	Substitution - Missense(2)	p.E102K(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(304-306)Gaa>Aaa		autophagy related 13							264.0	236.0	245.0					11																	46670720		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46670720G>A	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.304G>A	11.37:g.46670720G>A	ENSP00000400642:p.Glu102Lys					ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K	p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			5	993	+			102					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.304G>A	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319424	0.95682	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.64830	0.963;0.931;0.994;0.991	P;P;P;P	0.60117	0.67;0.815;0.869;0.801	T	0.57528	-0.7796	9	0.29301	T	0.29	-20.6275	20.1174	0.97942	0.0:0.0:1.0:0.0	.	23;102;102;102	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	K	102;102;102;102;102;102;23;102;102;102;102;102	.	ENSP00000310321:E102K	E	+	1	0	ATG13	46627296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.357000	0.97099	2.771000	0.95319	0.591000	0.81541	GAA		0.353	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		37	88	0	0	0	1	0	37	88				
TUBD1	51174	broad.mit.edu	37	17	57955539	57955539	+	Missense_Mutation	SNP	C	C	T	rs373399411		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:57955539C>T	ENST00000592426.1	-	4	694	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A232T|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T			Q9UJT1	TBD_HUMAN	tubulin, delta 1	232					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A232T(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AGCTGATGTGCGAGGACTTGA	0.418																																						ENST00000325752.3																			1	Substitution - Missense(1)	p.A232T(1)	prostate(1)	NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(694-696)Gca>Aca		tubulin, delta 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	193.0	155.0	168.0		694,694,694,337,46,694	5.7	1.0	17		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_001193612.1,NM_001193613.1,NM_016261.3	58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	232/399,232/397,232/352,113/280,16/238,232/454	57955539	1,13005	2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955539C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.694G>A	17.37:g.57955539C>T	ENSP00000468518:p.Ala232Thr					TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A232T	p.A232T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	971	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		232					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.694G>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797715	0.90538	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.69	5.69	0.88448	Tubulin/FtsZ, GTPase domain (3);	0.047074	0.85682	D	0.000000	D	0.82875	0.5132	M	0.76838	2.35	0.58432	D	0.999999	P;D;D;D;D	0.64830	0.917;0.991;0.994;0.994;0.973	B;P;P;P;B	0.57548	0.317;0.545;0.603;0.823;0.406	D	0.84672	0.0712	10	0.87932	D	0	-14.7616	19.8108	0.96545	0.0:1.0:0.0:0.0	.	232;232;232;232;232	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	T	232;232;232;232;16	ENSP00000320797:A232T;ENSP00000342399:A232T;ENSP00000377785:A232T;ENSP00000365262:A232T	ENSP00000320797:A232T	A	-	1	0	TUBD1	55310321	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.638000	0.67861	2.678000	0.91216	0.555000	0.69702	GCA		0.418	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		47	120	0	0	0	1	0	47	120				
MYCBP2	23077	broad.mit.edu	37	13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	ENST00000544440.2	-	60	10327	c.10310G>T	c.(10309-10311)aGa>aTa	p.R3437I	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3475I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.R3437I(1)|p.R3475I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGTATGATCTTTGGAAGAC	0.388																																						ENST00000407578.2																			2	Substitution - Missense(2)	p.R3437I(1)|p.R3475I(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(10423-10425)aGa>aTa		MYC binding protein 2, E3 ubiquitin protein ligase							138.0	128.0	131.0					13																	77664342		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77664342C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10310G>T	13.37:g.77664342C>A	ENSP00000444596:p.Arg3437Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I	p.R3475I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	60	10690	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3437						Missense_Mutation	SNP	ENST00000544440.2	37	c.10424G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.480067	0.84747	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.50548	0.74;0.74;0.74	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.64364	-0.6425	10	0.87932	D	0	.	18.7708	0.91892	0.0:1.0:0.0:0.0	.	3437	O75592	MYCB2_HUMAN	I	3437;3475;3437	ENSP00000349892:R3437I;ENSP00000384288:R3475I;ENSP00000444596:R3437I	ENSP00000349892:R3437I	R	-	2	0	MYCBP2	76562343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.583000	0.82559	2.494000	0.84150	0.650000	0.86243	AGA		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		63	118	1	0	2.01871e-26	1	2.33069e-26	63	118				
EIF4G1	1981	broad.mit.edu	37	3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	ENST00000346169.2	+	14	2273	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P668A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	668	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.P668A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607																																						ENST00000342981.4																			1	Substitution - Missense(1)	p.P668A(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2002-2004)Cca>Gca		eukaryotic translation initiation factor 4 gamma, 1							136.0	141.0	139.0					3																	184040943		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040943C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2002C>G	3.37:g.184040943C>G	ENSP00000316879:p.Pro668Ala					EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A	p.P668A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	2416	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		668			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2002C>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280384	0.80692	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77267	0.4105	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80233	-0.1467	10	0.56958	D	0.05	-8.3827	18.8434	0.92194	0.0:1.0:0.0:0.0	.	675;668;668;675	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	A	668;628;581;668;675;675;609;504;675;581;668;668;675;628;504;504;472;472	ENSP00000316879:P668A;ENSP00000391935:P628A;ENSP00000376320:P581A;ENSP00000391412:P668A;ENSP00000413159:P675A;ENSP00000371767:P675A;ENSP00000403269:P609A;ENSP00000317600:P504A;ENSP00000338020:P675A;ENSP00000407682:P581A;ENSP00000343450:P668A;ENSP00000323737:P668A;ENSP00000416255:P675A;ENSP00000395974:P628A;ENSP00000398145:P504A;ENSP00000399858:P504A;ENSP00000411826:P472A;ENSP00000404754:P472A	ENSP00000323737:P668A	P	+	1	0	EIF4G1	185523637	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.678000	0.91216	0.563000	0.77884	CCA		0.607	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		5	190	0	0	0	1	0	5	190				
SEPT10	151011	broad.mit.edu	37	2	110301775	110301775	+	3'UTR	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:110301775C>A	ENST00000397712.2	-	0	1854				SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.G520V|SEPT10_ENST00000334001.6_3'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGCTGTTCACCAAATATAGA	0.333																																						ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1558-1560)gGt>gTt		septin 10																																				SO:0001624	3_prime_UTR_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110301775C>A	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*111G>T	2.37:g.110301775C>A						SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR	p.G520V			Q9P0V9	SEP10_HUMAN			12	1874	-			0					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.1559G>T	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	6.869	0.529650	0.13127	.	.	ENSG00000186522	ENST00000356688	T	0.57273	0.41	5.37	3.43	0.39272	.	2.211840	0.01969	N	0.043885	T	0.45696	0.1355	.	.	.	0.23254	N	0.998034	B	0.30793	0.295	B	0.25506	0.061	T	0.42616	-0.9441	9	0.87932	D	0	.	9.1695	0.37072	0.1634:0.678:0.1585:0.0	.	520	B5ME97	.	V	520	ENSP00000349116:G520V	ENSP00000349116:G520V	G	-	2	0	SEPT10	109659064	0.040000	0.19996	0.577000	0.28562	0.006000	0.05464	0.687000	0.25407	1.363000	0.46019	-0.282000	0.10007	GGT		0.333	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		19	22	1	0	0.00074312	1	0.000779969	19	22				
SEPT4	5414	broad.mit.edu	37	17	56598642	56598642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:56598642G>A	ENST00000317268.3	-	9	1263	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000457347.2_Nonsense_Mutation_p.R378*|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	363	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R363*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGAGTCGACCCCGAACT	0.582											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000457347.2																			1	Substitution - Nonsense(1)	p.R363*(1)	prostate(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)Cga>Tga		septin 4							77.0	69.0	72.0					17																	56598642		2203	4300	6503	SO:0001587	stop_gained	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598642G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1087C>T	17.37:g.56598642G>A	ENSP00000321674:p.Arg363*		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*|SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317268.3_Nonsense_Mutation_p.R363*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*	p.R378*	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			10	1276	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		363					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Nonsense_Mutation	SNP	ENST00000317268.3	37	c.1132C>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468254	0.84533	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	.	.	.	5.66	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1152	0.59295	0.0:0.0:0.8391:0.1608	.	.	.	.	X	355;377;344;363;344	.	ENSP00000321071:R344X	R	-	1	2	SEPT4	53953641	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.696000	0.74598	2.657000	0.90304	0.655000	0.94253	CGA		0.582	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		13	95	0	0	0	1	0	13	95				
RNF25	64320	broad.mit.edu	37	2	219538385	219538385	+	5'Flank	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	ENST00000295704.2	-	0	0				STK36_ENST00000440309.1_Missense_Mutation_p.S41L|STK36_ENST00000295709.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000392105.3_Missense_Mutation_p.S41L	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S41L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGCGCTCAGAGAAGGAG	0.448																																						ENST00000295709.3																			2	Substitution - Missense(2)	p.S41L(2)	prostate(2)	biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(121-123)tCa>tTa		serine/threonine kinase 36							67.0	66.0	66.0					2																	219538385		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219538385C>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538385C>T	Exception_encountered					STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L	p.S41L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	3	401	+		Renal(207;0.0915)	41			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.122C>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	37	5.997528	0.97184	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;D	0.83992	-0.18;-0.18;-0.18;-0.18;-1.79	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37095	N	0.002245	D	0.85902	0.5805	L	0.38733	1.17	0.80722	D	1	P;B	0.51933	0.949;0.422	P;P	0.55871	0.786;0.491	D	0.86889	0.2047	10	0.87932	D	0	-7.2063	19.8769	0.96880	0.0:1.0:0.0:0.0	.	41;41	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	L	41	ENSP00000295709:S41L;ENSP00000375955:S41L;ENSP00000375954:S41L;ENSP00000394095:S41L;ENSP00000403527:S41L	ENSP00000295709:S41L	S	+	2	0	STK36	219246629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.882000	0.69714	2.712000	0.92718	0.650000	0.86243	TCA		0.448	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		20	39	0	0	0	1	0	20	39				
RABEP1	9135	broad.mit.edu	37	17	5264856	5264856	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	ENST00000546142.2	+	9	1636	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_ENST00000341923.6_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000262477.6_Silent_p.Q483Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478																																						ENST00000262477.6																			1	Substitution - coding silent(1)	p.Q483Q(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1447-1449)caA>caG		rabaptin, RAB GTPase binding effector protein 1							124.0	128.0	126.0					17																	5264856		2118	4219	6337	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264856A>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1449A>G	17.37:g.5264856A>G						NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Silent_p.Q483Q|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q	p.Q483Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1673	+			483					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1449A>G	CCDS45592.1																																																																																				0.478	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		40	34	0	0	0	1	0	40	34				
MFAP4	4239	broad.mit.edu	37	17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	ENST00000299610.4	-	5	581	c.497C>T	c.(496-498)gCa>gTa	p.A166V	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000395592.2_Missense_Mutation_p.A190V	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602																																						ENST00000395592.2																			1	Substitution - Missense(1)	p.A166V(1)	prostate(1)	large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(568-570)gCa>gTa		microfibrillar-associated protein 4							129.0	105.0	113.0					17																	19288435		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288435G>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.497C>T	17.37:g.19288435G>A	ENSP00000299610:p.Ala166Val					MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V	p.A190V	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			5	640	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		166			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.569C>T	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360265	0.41801	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.77620	-1.11;-1.11	5.0	4.02	0.46733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.749735	0.12134	N	0.496459	T	0.64735	0.2625	N	0.17872	0.535	0.09310	N	1	B;B	0.32365	0.149;0.367	B;B	0.33960	0.124;0.173	T	0.58797	-0.7573	10	0.72032	D	0.01	.	8.3656	0.32385	0.0:0.1709:0.652:0.1771	.	166;190	P55083;A8MVM2	MFAP4_HUMAN;.	V	190;166	ENSP00000378957:A190V;ENSP00000299610:A166V	ENSP00000299610:A166V	A	-	2	0	MFAP4	19229028	0.000000	0.05858	0.895000	0.35142	0.808000	0.45660	0.269000	0.18589	1.326000	0.45319	-0.323000	0.08544	GCA		0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		34	37	0	0	0	1	0	34	37				
KIRREL	55243	broad.mit.edu	37	1	158057827	158057827	+	Missense_Mutation	SNP	G	G	A	rs574166380		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:158057827G>A	ENST00000359209.6	+	7	866	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368172.1_Missense_Mutation_p.A65T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T|KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	267	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.A103T(1)|p.A267T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GATTGAAGACGCCCACGAGAG	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0					ENST00000368172.1																			2	Substitution - Missense(2)	p.A103T(1)|p.A267T(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(193-195)Gcc>Acc		kin of IRRE like (Drosophila)							94.0	101.0	99.0					1																	158057827		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057827G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.799G>A	1.37:g.158057827G>A	ENSP00000352138:p.Ala267Thr		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T|KIRREL_ENST00000359209.6_Missense_Mutation_p.A267T|KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T	p.A65T			Q96J84	KIRR1_HUMAN			3	205	+	all_hematologic(112;0.0378)		267			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.193G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	35	5.421085	0.96111	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000626	T	0.28962	0.0719	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.966;1.0;0.999;0.999	T	0.02345	-1.1173	10	0.48119	T	0.1	-39.5553	16.7618	0.85514	0.0:0.0:1.0:0.0	.	167;103;65;267	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	T	103;267;164;267;167;65	ENSP00000353202:A103T;ENSP00000357155:A267T;ENSP00000376098:A164T;ENSP00000352138:A267T;ENSP00000389674:A167T;ENSP00000357154:A65T	ENSP00000352138:A267T	A	+	1	0	KIRREL	156324451	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCC		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		14	276	0	0	0	1	0	14	276				
LRRC14	9684	broad.mit.edu	37	8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	ENST00000292524.1	+	4	1222	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	359								p.L359R(1)		endometrium(1)|lung(3)|prostate(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)			TTCCAGGGTCTGTTGCAGGCA	0.597																																						ENST00000292524.1																			1	Substitution - Missense(1)	p.L359R(1)	prostate(1)	endometrium(1)|lung(3)|prostate(1)	5						c.(1075-1077)cTg>cGg		leucine rich repeat containing 14							67.0	61.0	63.0					8																	145746456		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145746456T>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1076T>G	8.37:g.145746456T>G	ENSP00000292524:p.Leu359Arg					LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_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	1222	+	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)		359					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1076T>G	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048589	0.36181	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.13196	2.61;2.61	4.69	4.69	0.59074	.	0.076200	0.53938	D	0.000051	T	0.36580	0.0972	M	0.78049	2.395	0.39881	D	0.97363	D	0.89917	1.0	D	0.74348	0.983	T	0.32745	-0.9895	10	0.87932	D	0	.	12.1376	0.53981	0.0:0.0:0.0:1.0	.	359	Q15048	LRC14_HUMAN	R	359	ENSP00000434768:L359R;ENSP00000292524:L359R	ENSP00000292524:L359R	L	+	2	0	LRRC14	145717264	0.984000	0.35163	0.051000	0.19133	0.024000	0.10985	4.606000	0.61126	1.965000	0.57142	0.460000	0.39030	CTG		0.597	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		21	46	0	0	0	1	0	21	46				
KMT2C	58508	broad.mit.edu	37	7	151932988	151932988	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:151932988T>A	ENST00000262189.6	-	16	2901	c.2683A>T	c.(2683-2685)Aga>Tga	p.R895*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R895*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	895					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)	p.R895*(2)									CCTCGAGGTCTCCGCTTTCCT	0.502																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.R895*(2)	prostate(2)								c.(2683-2685)Aga>Tga		lysine (K)-specific methyltransferase 2C							33.0	34.0	34.0					7																	151932988		2202	4295	6497	SO:0001587	stop_gained	58508							g.chr7:151932988T>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.2683A>T	7.37:g.151932988T>A	ENSP00000262189:p.Arg895*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R895*	p.R895*							16	2901	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.2683A>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.180874|10.180874	0.99353|0.99353	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|.	.|.	.|.	5.1|5.1	2.62|2.62	0.31277|0.31277	.|.	.|0.000000	.|0.50627	.|D	.|0.000109	T|.	0.32315|.	0.0825|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13045|.	-1.0524|.	4|.	.|0.02654	.|T	.|1	.|.	11.1872|11.1872	0.48664|0.48664	0.0:0.0:0.2933:0.7067|0.0:0.0:0.2933:0.7067	.|.	.|.	.|.	.|.	V|X	50|895	.|.	.|ENSP00000262189:R895X	E|R	-|-	2|1	0|2	MLL3|MLL3	151563921|151563921	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.952000|0.952000	0.60782|0.60782	1.358000|1.358000	0.34102|0.34102	0.325000|0.325000	0.23359|0.23359	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	104	0	0	0	1	0	4	104				
PPEF2	5470	broad.mit.edu	37	4	76813115	76813115	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	ENST00000286719.7	-	3	428	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	24	IQ.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			1	Substitution - coding silent(1)	p.A24A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(70-72)gcC>gcT		protein phosphatase, EF-hand calcium binding domain 2							60.0	62.0	61.0					4																	76813115		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76813115G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.72C>T	4.37:g.76813115G>A						PPEF2_ENST00000510607.1_5'UTR	p.A24A	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	428	-			24			IQ.		O14831	Silent	SNP	ENST00000286719.7	37	c.72C>T	CCDS34013.1																																																																																				0.607	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		19	69	0	0	0	1	0	19	69				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	39	0	0	0	1	0	3	39				
DPP6	1804	broad.mit.edu	37	7	154667617	154667617	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	ENST00000377770.3	+	20	2026	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	DPP6_ENST00000332007.3_Splice_Site_p.D567N|DPP6_ENST00000404039.1_Splice_Site_p.D565N|DPP6_ENST00000427557.1_Splice_Site_p.D522N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	629					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			2	Substitution - Missense(2)	p.D629N(1)|p.D565N(1)	prostate(2)	NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.e20-1		dipeptidyl-peptidase 6							22.0	27.0	25.0					7																	154667617		2044	4177	6221	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667617G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1884-1G>A	7.37:g.154667617G>A						DPP6_ENST00000377770.3_Splice_Site_p.D629_splice|DPP6_ENST00000332007.3_Splice_Site_p.D567_splice|DPP6_ENST00000427557.1_Splice_Site_p.D522_splice	p.D565_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2280	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	629						Splice_Site	SNP	ENST00000377770.3	37	c.1691_splice		.	.	.	.	.	.	.	.	.	.	G	17.50	3.404539	0.62288	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.92	4.92	0.64577	.	0.047472	0.85682	D	0.000000	T	0.58977	0.2160	M	0.83953	2.67	0.54753	D	0.99998	P;P;P;B	0.49358	0.923;0.466;0.899;0.336	P;B;P;B	0.52267	0.694;0.185;0.546;0.09	T	0.60131	-0.7323	10	0.22109	T	0.4	-22.3958	18.0911	0.89476	0.0:0.0:1.0:0.0	.	522;567;629;565	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	N	565;629;567;522	ENSP00000385578:D565N;ENSP00000367001:D629N;ENSP00000328226:D567N;ENSP00000397303:D522N	ENSP00000328226:D567N	D	+	1	0	DPP6	154298550	1.000000	0.71417	0.999000	0.59377	0.193000	0.23685	7.406000	0.80017	2.246000	0.74042	0.430000	0.28490	GAT		0.632	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Missense_Mutation	5	13	0	0	0	1	0	5	13				
CEP350	9857	broad.mit.edu	37	1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	ENST00000367607.3	+	12	2796	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378																																						ENST00000367607.3																			2	Substitution - Missense(2)	p.T793S(2)	prostate(2)	central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2377-2379)aCt>aGt		centrosomal protein 350kDa							104.0	106.0	105.0					1																	179989287		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989287C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2378C>G	1.37:g.179989287C>G	ENSP00000356579:p.Thr793Ser						p.T793S	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2796	+			793					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2378C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151241	0.21371	.	.	ENSG00000135837	ENST00000367607	T	0.16073	2.37	6.02	3.08	0.35506	.	0.581335	0.15335	N	0.267788	T	0.12092	0.0294	L	0.29908	0.895	0.32806	D	0.500839	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.006	T	0.19224	-1.0312	9	.	.	.	.	9.9112	0.41406	0.0:0.6858:0.2437:0.0705	.	793;793	E7EU22;Q5VT06	.;CE350_HUMAN	S	793	ENSP00000356579:T793S	.	T	+	2	0	CEP350	178255910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.812000	0.38952	0.405000	0.25532	0.655000	0.94253	ACT		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		63	131	0	0	0	1	0	63	131				
PFKP	5214	broad.mit.edu	37	10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	ENST00000381125.4	+	20	2143	c.2067C>G	c.(2065-2067)atC>atG	p.I689M	PFKP_ENST00000381075.2_Missense_Mutation_p.I681M|PFKP_ENST00000381072.1_Missense_Mutation_p.I107M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	689	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.I689M(2)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512																																						ENST00000381075.2																			3	Substitution - Missense(3)	p.I689M(2)|p.I681M(1)	prostate(3)	breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2041-2043)atC>atG		phosphofructokinase, platelet							144.0	158.0	153.0					10																	3176719		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3176719C>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2067C>G	10.37:g.3176719C>G	ENSP00000370517:p.Ile689Met					PFKP_ENST00000381125.4_Missense_Mutation_p.I689M|PFKP_ENST00000381072.1_Missense_Mutation_p.I107M	p.I681M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	22	2267	+			689					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2043C>G	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.177|6.177	0.400878|0.400878	0.11696|0.11696	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	T;T;T|.	0.79454|.	-1.27;-1.27;-1.27|.	5.05|5.05	-5.95|-5.95	0.02241|0.02241	Phosphofructokinase domain (2);|.	0.161414|.	0.53938|.	N|.	0.000056|.	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.00179|0.00179	-1.91|-1.91	0.47037|0.47037	D|D	0.999295|0.999295	B;B;B|.	0.18166|.	0.026;0.026;0.025|.	B;B;B|.	0.25614|.	0.062;0.062;0.057|.	T|T	0.33111|0.33111	-0.9881|-0.9881	10|5	0.05833|.	T|.	0.94|.	.|.	3.1054|3.1054	0.06340|0.06340	0.0976:0.189:0.2094:0.504|0.0976:0.189:0.2094:0.504	.|.	681;681;689|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	M|C	689;678;681;107|42	ENSP00000370517:I689M;ENSP00000370465:I681M;ENSP00000370462:I107M|.	ENSP00000370462:I107M|.	I|S	+|+	3|2	3|0	PFKP|PFKP	3166719|3166719	0.001000|0.001000	0.12720|0.12720	0.641000|0.641000	0.29422|0.29422	0.969000|0.969000	0.65631|0.65631	-1.878000|-1.878000	0.01630|0.01630	-1.190000|-1.190000	0.02698|0.02698	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.512	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		82	212	0	0	0	1	0	82	212				
ASAP1	50807	broad.mit.edu	37	8	131249205	131249205	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	ENST00000518721.1	-	4	449	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_ENST00000357668.1_Silent_p.V74V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.V74V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294																																						ENST00000357668.1																			1	Substitution - coding silent(1)	p.V74V(1)	prostate(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(220-222)gtG>gtC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							61.0	59.0	60.0					8																	131249205		2203	4295	6498	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249205C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.222G>C	8.37:g.131249205C>G						ASAP1_ENST00000518721.1_Silent_p.V74V	p.V74V			Q9ULH1	ASAP1_HUMAN			3	249	-			74					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.222G>C	CCDS6362.1																																																																																				0.294	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		20	67	0	0	0	1	0	20	67				
GHR	2690	broad.mit.edu	37	5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000537449.1_Missense_Mutation_p.P254T|GHR_ENST00000357703.3_Missense_Mutation_p.P419T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	441					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463																																						ENST00000230882.4																			1	Substitution - Missense(1)	p.P441T(1)	prostate(1)	NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1321-1323)Cct>Act		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						73.0	66.0	68.0					5																	42718930		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718930C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1321C>A	5.37:g.42718930C>A	ENSP00000230882:p.Pro441Thr					GHR_ENST00000537449.1_Missense_Mutation_p.P254T|GHR_ENST00000357703.3_Missense_Mutation_p.P419T	p.P441T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1511	+		Myeloproliferative disorder(839;0.00878)	441					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1321C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143744	0.21205	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.33654	1.4;1.4;1.4	5.76	3.03	0.35002	.	0.292308	0.42821	D	0.000644	T	0.51702	0.1690	M	0.85197	2.74	0.09310	N	1	P	0.51653	0.947	P	0.57720	0.826	T	0.42565	-0.9444	10	0.33940	T	0.23	-1.597	5.5606	0.17142	0.1367:0.5803:0.0:0.283	.	441	P10912	GHR_HUMAN	T	441;419;254	ENSP00000230882:P441T;ENSP00000350335:P419T;ENSP00000442206:P254T	ENSP00000230882:P441T	P	+	1	0	GHR	42754687	0.006000	0.16342	0.059000	0.19551	0.469000	0.32828	0.768000	0.26590	0.464000	0.27142	0.591000	0.81541	CCT		0.463	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		4	83	1	0	0.00909568	1	0.00946845	4	83				
THEMIS2	9473	broad.mit.edu	37	1	28208523	28208523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:28208523G>T	ENST00000373921.3	+	4	692	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	THEMIS2_ENST00000328928.7_Missense_Mutation_p.D230Y|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	230	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D230Y(1)									CCTGGAGGTCGACGTGGAGGA	0.642																																						ENST00000373921.3																			1	Substitution - Missense(1)	p.D230Y(1)	prostate(1)								c.(688-690)Gac>Tac		thymocyte selection associated family member 2							62.0	64.0	64.0					1																	28208523		2123	4250	6373	SO:0001583	missense	9473							g.chr1:28208523G>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.688G>T	1.37:g.28208523G>T	ENSP00000363031:p.Asp230Tyr					THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D230Y|THEMIS2_ENST00000373925.1_Intron	p.D230Y	NM_001105556.1	NP_001099026.1					4	692	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.688G>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618660	0.87460	.	.	ENSG00000130775	ENST00000328928;ENST00000442118;ENST00000373921	T;T;T	0.50001	2.53;0.76;2.53	5.31	5.31	0.75309	.	0.095330	0.64402	D	0.000001	T	0.69450	0.3112	M	0.69823	2.125	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.72235	-0.4352	10	0.87932	D	0	-17.3483	18.954	0.92650	0.0:0.0:1.0:0.0	.	230;230	Q5TEJ8-5;Q5TEJ8	.;THMS2_HUMAN	Y	230;93;230	ENSP00000329862:D230Y;ENSP00000413725:D93Y;ENSP00000363031:D230Y	ENSP00000329862:D230Y	D	+	1	0	C1orf38	28081110	1.000000	0.71417	0.581000	0.28614	0.927000	0.56198	9.202000	0.95026	2.654000	0.90174	0.561000	0.74099	GAC		0.642	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		25	66	1	0	9.39395e-14	1	1.03742e-13	25	66				
DCSTAMP	81501	broad.mit.edu	37	8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:105361522A>G	ENST00000297581.2	+	2	791	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	248					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.T248A(1)									CATCTACATCACCAGACAATT	0.488																																						ENST00000297581.2																			1	Substitution - Missense(1)	p.T248A(1)	prostate(1)								c.(742-744)Acc>Gcc		dendrocyte expressed seven transmembrane protein							101.0	96.0	98.0					8																	105361522		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361522A>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.742A>G	8.37:g.105361522A>G	ENSP00000297581:p.Thr248Ala					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A	p.T248A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	791	+			248					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.742A>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891341	0.72524	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.54866	0.55;0.55	5.76	5.76	0.90799	Dendritic cell-specific transmembrane protein-like (1);	0.157172	0.56097	D	0.000025	T	0.72748	0.3499	M	0.79805	2.47	0.44447	D	0.997375	D	0.67145	0.996	D	0.70016	0.967	T	0.75216	-0.3396	9	.	.	.	-18.8036	14.6526	0.68808	1.0:0.0:0.0:0.0	.	248	Q9H295	TM7S4_HUMAN	A	248	ENSP00000297581:T248A;ENSP00000428869:T248A	.	T	+	1	0	TM7SF4	105430698	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.965000	0.70387	2.211000	0.71520	0.454000	0.30748	ACC		0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		11	172	0	0	0	1	0	11	172				
DNAJB11	51726	broad.mit.edu	37	3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	ENST00000439351.1	+	10	1864	c.935A>G	c.(934-936)aAc>aGc	p.N312S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	312					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N312S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433																																						ENST00000439351.1																			1	Substitution - Missense(1)	p.N312S(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(934-936)aAc>aGc		DnaJ (Hsp40) homolog, subfamily B, member 11							107.0	102.0	104.0					3																	186302301		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302301A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.935A>G	3.37:g.186302301A>G	ENSP00000414398:p.Asn312Ser					DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S	p.N312S			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1864	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		312					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.935A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975733	0.74360	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.41065	1.01;1.01	5.98	5.98	0.97165	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.080846	0.85682	D	0.000000	T	0.48259	0.1490	L	0.55103	1.725	0.80722	D	1	P	0.43412	0.806	P	0.51516	0.672	T	0.35574	-0.9783	10	0.09590	T	0.72	-20.8908	14.4143	0.67139	1.0:0.0:0.0:0.0	.	312	Q9UBS4	DJB11_HUMAN	S	312	ENSP00000414398:N312S;ENSP00000265028:N312S	ENSP00000265028:N312S	N	+	2	0	DNAJB11	187784995	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.649000	0.67936	2.289000	0.77006	0.533000	0.62120	AAC		0.433	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			25	39	0	0	0	1	0	25	39				
EP400NL	347918	broad.mit.edu	37	12	132589578	132589578	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:132589578A>G	ENST00000376625.4	+	1	1039	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	EP400NL_ENST00000361109.5_Missense_Mutation_p.K185R|EP400NL_ENST00000443539.2_Missense_Mutation_p.K206R|EP400NL_ENST00000392352.1_Missense_Mutation_p.K206R|EP400NL_ENST00000389560.2_Missense_Mutation_p.K269R			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	338								p.K338R(2)		endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AAGGTTCCCAAGAAGTTAGAG	0.607																																						ENST00000376625.4																			2	Substitution - Missense(2)	p.K338R(2)	prostate(2)	endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						c.(1012-1014)aAg>aGg		EP400 N-terminal like							29.0	35.0	33.0					12																	132589578		692	1589	2281	SO:0001583	missense	347918							g.chr12:132589578A>G	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1013A>G	12.37:g.132589578A>G	ENSP00000365812:p.Lys338Arg					EP400NL_ENST00000392352.1_Missense_Mutation_p.K206R|EP400NL_ENST00000361109.5_Missense_Mutation_p.K185R|EP400NL_ENST00000443539.2_Missense_Mutation_p.K206R|EP400NL_ENST00000389560.2_Missense_Mutation_p.K269R	p.K338R							1	1039	+								A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	ENST00000376625.4	37	c.1013A>G		.	.	.	.	.	.	.	.	.	.	A	5.499	0.276977	0.10403	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000407361;ENST00000361109;ENST00000376625	.	.	.	2.98	-1.01	0.10169	.	0.000000	0.34200	U	0.004162	T	0.23014	0.0556	.	.	.	0.23445	N	0.997669	B;B;B;B	0.23591	0.088;0.008;0.088;0.008	B;B;B;B	0.27380	0.079;0.044;0.047;0.044	T	0.19031	-1.0318	8	0.21014	T	0.42	.	7.1869	0.25804	0.6986:0.0:0.3014:0.0	.	185;338;206;338	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	R	269;206;206;206;185;338	.	ENSP00000328997:K270R	K	+	2	0	EP400NL	131155531	1.000000	0.71417	0.640000	0.29408	0.183000	0.23260	1.983000	0.40648	-0.165000	0.10908	-0.991000	0.02546	AAG		0.607	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613		8	41	0	0	0	1	0	8	41				
NAA20	51126	broad.mit.edu	37	20	20013297	20013297	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	ENST00000334982.4	+	5	732	c.451G>A	c.(451-453)Gat>Aat	p.D151N	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Splice_Site_p.D139N|NAA20_ENST00000310450.4_Intron	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	151	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408																																						ENST00000398602.2																			1	Substitution - Missense(1)	p.D151N(1)	prostate(1)	endometrium(3)|lung(2)|prostate(1)	6						c.e5+1		N(alpha)-acetyltransferase 20, NatB catalytic subunit							80.0	74.0	76.0					20																	20013297		2203	4300	6503	SO:0001630	splice_region_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20013297G>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.451+1G>A	20.37:g.20013297G>A						NAA20_ENST00000334982.4_Splice_Site_p.D151_splice|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	p.D139_splice	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			5	1050	+			151			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Splice_Site	SNP	ENST00000334982.4	37	c.415_splice	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228446	0.95173	.	.	ENSG00000173418	ENST00000334982;ENST00000398602	T;T	0.67171	0.35;-0.25	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.049939	0.85682	D	0.000000	D	0.82783	0.5112	M	0.90650	3.135	0.80722	D	1	B;P	0.34909	0.276;0.475	B;P	0.49752	0.172;0.621	T	0.82554	-0.0399	9	.	.	.	-26.8994	18.4866	0.90831	0.0:0.0:1.0:0.0	.	139;151	A8MZB2;P61599	.;NAA20_HUMAN	N	151;139	ENSP00000335636:D151N;ENSP00000381603:D139N	.	D	+	1	0	NAA20	19961297	1.000000	0.71417	0.361000	0.25849	0.946000	0.59487	7.869000	0.87170	2.664000	0.90586	0.650000	0.86243	GAT		0.408	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100	Missense_Mutation	10	77	0	0	0	1	0	10	77				
OR7A5	26659	broad.mit.edu	37	19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	ENST00000322301.3	-	2	1046	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	0					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*320L(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383																																						ENST00000322301.3																			1	Nonstop extension(1)	p.*320L(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(958-960)tGa>tTa		olfactory receptor, family 7, subfamily A, member 5							86.0	83.0	84.0					19																	14938095		2203	4300	6503	SO:0001578	stop_lost	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938095C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.959G>T	19.37:g.14938095C>A						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L	p.*320L			Q15622	OR7A5_HUMAN			2	1046	-			0					B2R682|Q6IFP1|Q96R96	Nonstop_Mutation	SNP	ENST00000322301.3	37	c.959G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	10.33	1.319760	0.23994	.	.	ENSG00000188269	ENST00000322301	.	.	.	2.9	-0.704	0.11256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9359	0.05815	0.0:0.4623:0.2423:0.2953	.	.	.	.	L	320	.	.	X	-	2	2	OR7A5	14799095	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	-0.248000	0.08854	0.106000	0.17784	0.121000	0.15741	TGA		0.383	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		63	132	1	0	2.89935e-36	1	3.44129e-36	63	132				
KCND3	3752	broad.mit.edu	37	1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	ENST00000315987.2	-	8	2437	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	KCND3_ENST00000369697.1_Missense_Mutation_p.S634C|KCND3_ENST00000302127.4_Missense_Mutation_p.S634C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	653					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTACAAGGCGGAGACCTTGAC	0.612																																						ENST00000369697.1																			1	Substitution - Missense(1)	p.S634C(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1900-1902)tCc>tGc		potassium voltage-gated channel, Shal-related subfamily, member 3							89.0	81.0	84.0					1																	112318709		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318709G>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1958C>G	1.37:g.112318709G>C	ENSP00000319591:p.Ser653Cys					KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C	p.S634C			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1970	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	653					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1901C>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496916	0.85069	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97772	-4.53;-4.38;-4.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.984	D	0.99709	1.1006	10	0.87932	D	0	.	19.2561	0.93947	0.0:0.0:1.0:0.0	.	634;653	Q14D71;Q9UK17	.;KCND3_HUMAN	C	634;653;634	ENSP00000358711:S634C;ENSP00000319591:S653C;ENSP00000306923:S634C	ENSP00000306923:S634C	S	-	2	0	KCND3	112120232	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.415000	0.97375	2.645000	0.89757	0.655000	0.94253	TCC		0.612	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		29	82	0	0	0	1	0	29	82				
GNB5	10681	broad.mit.edu	37	15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	CTD-2184D3.7_ENST00000557898.1_RNA|CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000396335.4_Intron|GNB5_ENST00000559348.1_5'Flank|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	187					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453																																						ENST00000261837.7																			1	Substitution - Missense(1)	p.K187R(1)	prostate(1)	large_intestine(1)|lung(1)	2						c.(559-561)aAa>aGa		guanine nucleotide binding protein (G protein), beta 5							161.0	146.0	151.0					15																	52433404		2195	4293	6488	SO:0001583	missense	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52433404T>C	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.560A>G	15.37:g.52433404T>C	ENSP00000261837:p.Lys187Arg					GNB5_ENST00000358784.7_Missense_Mutation_p.K145R|GNB5_ENST00000396335.4_Intron	p.K187R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	7	625	-			187					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.560A>G	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322417	0.41096	.	.	ENSG00000069966	ENST00000261837;ENST00000396335	T	0.01304	5.03	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	D	0.75020	0.985	T	0.59306	-0.7479	10	0.22706	T	0.39	-23.3351	15.6048	0.76658	0.0:0.0:0.0:1.0	.	187	O14775	GBB5_HUMAN	R	187;145	ENSP00000261837:K187R	ENSP00000261837:K187R	K	-	2	0	GNB5	50220696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.695000	0.84257	2.265000	0.75225	0.533000	0.62120	AAA		0.453	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			49	80	0	0	0	1	0	49	80				
NUP107	57122	broad.mit.edu	37	12	69094533	69094533	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:69094533C>A	ENST00000229179.4	+	7	912	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NUP107_ENST00000539906.1_Silent_p.R165R|NUP107_ENST00000378905.2_Silent_p.R43R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	194					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R194R(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGTGAGTCGAGCAACACC	0.363																																						ENST00000229179.4																		NUP107/LGR5(2)	1	Substitution - coding silent(1)	p.R194R(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(580-582)Cga>Aga		nucleoporin 107kDa							62.0	61.0	61.0					12																	69094533		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69094533C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.580C>A	12.37:g.69094533C>A						NUP107_ENST00000539906.1_Silent_p.R165R|NUP107_ENST00000378905.2_Silent_p.R43R	p.R194R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		7	912	+	Breast(13;6.25e-06)		194					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.580C>A	CCDS8985.1																																																																																				0.363	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		32	67	1	0	3.99451e-17	1	4.4894e-17	32	67				
SPATA31C1	441452	broad.mit.edu	37	9	90535282	90535282	+	RNA	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:90535282A>G	ENST00000602681.1	+	0	1186							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATGAGCCTATGGAAGATGC	0.582																																						ENST00000602681.1																			0																				107.0	115.0	113.0					9																	90535282		692	1591	2283			0							g.chr9:90535282A>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535282A>G														0	1186	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		4	226	0	0	0	1	0	4	226				
IFI16	3428	broad.mit.edu	37	1	159021757	159021757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:159021757G>A	ENST00000295809.7	+	10	2209	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000430894.2_Missense_Mutation_p.D600N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	652	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.D596N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACTTGTGGCTGATGTGAATGC	0.428																																						ENST00000295809.7																			1	Substitution - Missense(1)	p.D596N(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1954-1956)Gat>Aat		interferon, gamma-inducible protein 16							89.0	89.0	89.0					1																	159021757		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021757G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1954G>A	1.37:g.159021757G>A	ENSP00000295809:p.Asp652Asn					IFI16_ENST00000430894.2_Missense_Mutation_p.D600N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N|IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N	p.D652N			Q16666	IF16_HUMAN			10	2209	+	all_hematologic(112;0.0429)		652			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1954G>A		.	.	.	.	.	.	.	.	.	.	G	14.69	2.609242	0.46527	.	.	ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	4.85	1.67	0.24075	.	.	.	.	.	T	0.07234	0.0183	M	0.61703	1.905	0.09310	N	1	B;P;B	0.36249	0.091;0.545;0.16	B;B;B	0.33799	0.17;0.147;0.153	T	0.16837	-1.0389	9	0.72032	D	0.01	.	8.6721	0.34156	0.0:0.1977:0.6479:0.1544	.	600;540;596	E7EPR3;Q16666-3;Q16666-2	.;.;.	N	281;652;540;596;596;600	ENSP00000295809:D652N;ENSP00000342741:D540N;ENSP00000357113:D596N;ENSP00000357114:D596N;ENSP00000394935:D600N	ENSP00000295809:D652N	D	+	1	0	IFI16	157288381	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.505000	0.06367	0.135000	0.18707	0.609000	0.83330	GAT		0.428	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		7	180	0	0	0	1	0	7	180				
SACS	26278	broad.mit.edu	37	13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	ENST00000382292.3	-	9	8426	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382298.3_Missense_Mutation_p.A2718G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2718					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378																																						ENST00000382298.3																			1	Substitution - Missense(1)	p.A2571G(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8152-8154)gCa>gGa		spastic ataxia of Charlevoix-Saguenay (sacsin)							70.0	70.0	70.0					13																	23909862		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909862G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8153C>G	13.37:g.23909862G>C	ENSP00000371729:p.Ala2718Gly					SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382292.3_Missense_Mutation_p.A2718G	p.A2718G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8741	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2718					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8153C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939106	0.52972	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93763	-3.28;-3.28;-3.28	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (1);	0.221844	0.39615	N	0.001319	D	0.89417	0.6709	L	0.36672	1.1	0.35408	D	0.792217	B	0.12630	0.006	B	0.15870	0.014	D	0.87623	0.2511	10	0.27785	T	0.31	.	15.3685	0.74541	0.0:0.1792:0.8208:0.0	.	2718	Q9NZJ4	SACS_HUMAN	G	2718;1968;2718	ENSP00000371729:A2718G;ENSP00000385844:A1968G;ENSP00000371735:A2718G	ENSP00000371729:A2718G	A	-	2	0	SACS	22807862	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.222000	0.78025	2.619000	0.88677	0.462000	0.41574	GCA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		55	128	0	0	0	1	0	55	128				
DUOX2	50506	broad.mit.edu	37	15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	ENST00000603300.1	-	4	389	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_ENST00000389039.6_Missense_Mutation_p.A63P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	63	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.A63P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682																																						ENST00000389039.6																			1	Substitution - Missense(1)	p.A63P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(187-189)Gcc>Ccc		dual oxidase 2							30.0	36.0	34.0					15																	45404890		2191	4269	6460	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404890C>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.187G>C	15.37:g.45404890C>G	ENSP00000475084:p.Ala63Pro					DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P	p.A63P			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	4	572	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	63			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.187G>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685559	0.88639	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.40543	1.245	0.80722	D	1	P	0.39551	0.678	P	0.47015	0.534	T	0.47420	-0.9119	9	0.13470	T	0.59	-24.4705	19.116	0.93340	0.0:1.0:0.0:0.0	.	63	Q9NRD8	DUOX2_HUMAN	P	63	.	ENSP00000373691:A63P	A	-	1	0	DUOX2	43192182	1.000000	0.71417	0.954000	0.39281	0.392000	0.30506	7.286000	0.78671	2.768000	0.95171	0.561000	0.74099	GCC		0.682	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		18	28	0	0	0	1	0	18	28				
KRTAP10-1	386677	broad.mit.edu	37	21	45959620	45959620	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	138	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.Q138Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582																																						ENST00000400375.1																			1	Substitution - coding silent(1)	p.Q138Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(412-414)caG>caA		keratin associated protein 10-1							115.0	120.0	118.0					21																	45959620		2203	4300	6503	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959620C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.414G>A	21.37:g.45959620C>T						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.Q138Q	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	458	-			138			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.414G>A	CCDS42954.1																																																																																				0.582	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			33	26	0	0	0	1	0	33	26				
RINT1	60561	broad.mit.edu	37	7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	ENST00000257700.2	+	8	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	356	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.Q356H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378																																						ENST00000257700.2																			1	Substitution - Missense(1)	p.Q356H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1066-1068)caG>caC		RAD50 interactor 1							126.0	127.0	126.0					7																	105190573		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190573G>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1068G>C	7.37:g.105190573G>C	ENSP00000257700:p.Gln356His						p.Q356H	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			8	1299	+			356			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1068G>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307028	0.60305	.	.	ENSG00000135249	ENST00000257700	T	0.42513	0.97	5.5	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64533	-0.6385	10	0.59425	D	0.04	-14.3338	10.0097	0.41979	0.2492:0.0:0.7508:0.0	.	356	Q6NUQ1	RINT1_HUMAN	H	356	ENSP00000257700:Q356H	ENSP00000257700:Q356H	Q	+	3	2	RINT1	104977809	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.642000	0.54367	1.454000	0.47793	0.650000	0.86243	CAG		0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		8	117	0	0	0	1	0	8	117				
KIF16B	55614	broad.mit.edu	37	20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	699	Glu-rich.				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)	p.E699*(2)		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						AAGGTCTCTTCTTCTTGTCTC	0.448																																						ENST00000354981.2																			2	Substitution - Nonsense(2)	p.E699*(2)	prostate(2)	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.(2095-2097)Gaa>Taa		kinesin family member 16B							151.0	133.0	139.0					20																	16360552		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.chr20:16360552C>A	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.2095G>T	20.37:g.16360552C>A	ENSP00000347076:p.Glu699*					KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR	p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2252	-			699			Glu-rich.		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.2095G>T	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123746|5.123746	0.94429|0.94429	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042|ENST00000450176	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.235048|.	0.42548|.	D|.	0.000699|.	.|T	.|0.75110	.|0.3805	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73630	.|-0.3922	.|4	0.49607|.	T|.	0.09|.	.|.	19.152|19.152	0.93493|0.93493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	699|133	.|.	ENSP00000347076:E699X|.	E|K	-|-	1|3	0|2	KIF16B|KIF16B	16308552|16308552	1.000000|1.000000	0.71417|0.71417	0.394000|0.394000	0.26270|0.26270	0.070000|0.070000	0.16714|0.16714	4.299000|4.299000	0.59073|0.59073	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.448	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		76	184	1	0	1.77355e-41	1	2.12492e-41	76	184				
KCTD10	83892	broad.mit.edu	37	12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	117					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577																																						ENST00000228495.6																			1	Substitution - Missense(1)	p.V117L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(349-351)Gtc>Ctc		potassium channel tetramerization domain containing 10							106.0	93.0	97.0					12																	109898479		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109898479C>G	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.349G>C	12.37:g.109898479C>G	ENSP00000228495:p.Val117Leu					KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	p.V117L	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			3	630	-			117					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.349G>C	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299606|1.299606	0.23650|0.23650	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858|ENST00000538161	T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56|.	4.81|4.81	4.81|4.81	0.61882|0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.25005|.	0.0607|.	N|N	0.00661|0.00661	-1.28|-1.28	0.80722|0.80722	D|D	1|1	B;B;B|.	0.16603|.	0.003;0.001;0.018|.	B;B;B|.	0.25405|.	0.013;0.013;0.06|.	T|.	0.32079|.	-0.9920|.	10|.	0.15066|.	T|.	0.55|.	-28.4714|-28.4714	17.05|17.05	0.86516|0.86516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	114;117;117|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	L|Y	117;114;117;117|82	ENSP00000228495:V117L;ENSP00000441672:V114L;ENSP00000437348:V117L;ENSP00000445129:V117L|.	ENSP00000228495:V117L|.	V|X	-|-	1|3	0|2	KCTD10|KCTD10	108382862|108382862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.906000|3.906000	0.56340|0.56340	2.499000|2.499000	0.84300|0.84300	0.563000|0.563000	0.77884|0.77884	GTC|TAG		0.577	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		28	140	0	0	0	1	0	28	140				
ZZZ3	26009	broad.mit.edu	37	1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	ENST00000370801.3	-	5	792_793	c.317_318delGA	c.(316-318)agafs	p.R107fs	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(316-318)afs		zinc finger, ZZ-type containing 3																																				SO:0001589	frameshift_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098722_78098723delTC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.317_318delGA	1.37:g.78098726_78098727delTC	ENSP00000359837:p.Arg107fs					ZZZ3_ENST00000370798.1_Intron	p.R107fs	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	792_793	-			107					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Frame_Shift_Del	DEL	ENST00000370801.3	37	c.317_318delGA	CCDS677.1																																																																																				0.391	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		117	268						117	268	---	---	---	---
LINC01322	103695433	broad.mit.edu	37	3	165320296	165320297	+	lincRNA	DEL	TA	TA	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:165320296_165320297delTA	ENST00000496693.1	+	0	508																											TGTTGTAACTTACCCTTCTGCC	0.391																																						ENST00000496693.1																			0																																																			0							g.chr3:165320296_165320297delTA																													3.37:g.165320296_165320297delTA														0	508	+									RNA	DEL	ENST00000496693.1	37																																																																																						0.391	RP11-85M11.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350253.1			44	127						44	127	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180675619	180675620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:180675619_180675620insA	ENST00000357559.4	+	10	1277_1278	c.893_894insA	c.(892-897)ggaaaafs	p.GK298fs	FXR1_ENST00000305586.7_Frame_Shift_Ins_p.GK213fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.GK298fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.GK213fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.GK285fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.GK249fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAAGTAATTGGAAAAAATGGCA	0.342																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(892-894)gaafs		fragile X mental retardation, autosomal homolog 1																																				SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675619_180675620insA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.899dupA	3.37:g.180675625_180675625dupA	ENSP00000350170:p.Gly298fs					FXR1_ENST00000445140.2_Frame_Shift_Ins_p.E298fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.E285fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.E213fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.E249fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.E213fs	p.E298fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	1277_1278	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		298			KH 2.		A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Ins	INS	ENST00000357559.4	37	c.893_894insA	CCDS3238.1																																																																																				0.342	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			41	89						41	89	---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	ENST00000339697.4	-	9	1110	c.1026delT	c.(1024-1026)aatfs	p.N342fs		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	342					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(1024-1026)aafs		serine incorporator 1							89.0	85.0	86.0					6																	122768119		2203	4300	6503	SO:0001589	frameshift_variant	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122768119delA	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1026delT	6.37:g.122768119delA	ENSP00000342962:p.Asn342fs					SERINC1_ENST00000339697.3_Frame_Shift_Del_p.N342fs	p.N342fs			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	11	1355	-			342					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Frame_Shift_Del	DEL	ENST00000339697.4	37	c.1026delT	CCDS5125.1																																																																																				0.363	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		58	116						58	116	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	ENST00000379992.2	-	6	2016	c.1567delG	c.(1567-1569)gacfs	p.D523fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	523						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAATGGTGTCATTGGAGTCG	0.458																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1567-1569)acfs		leucine rich repeat and Ig domain containing 2							173.0	163.0	166.0					9																	27949103		2203	4300	6503	SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27949103delC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1567delG	9.37:g.27949103delC	ENSP00000369328:p.Asp523fs					LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2016	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	523					A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Del	DEL	ENST00000379992.2	37	c.1567delG	CCDS6524.1																																																																																				0.458	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		7	325						7	325	---	---	---	---
ANKRD20A4	728747	broad.mit.edu	37	9	69423761	69423762	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:69423761_69423762insA	ENST00000357336.3	+	15	2338_2339	c.2057_2058insA	c.(2056-2061)agaaaafs	p.RK686fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	686										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GATAGTCTCAGAAAAAAGTCAT	0.337																																						ENST00000357336.3																			0				breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						c.(2056-2058)aaafs		ankyrin repeat domain 20 family, member A4																																				SO:0001589	frameshift_variant	728747							g.chr9:69423761_69423762insA		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.2063dupA	9.37:g.69423767_69423767dupA	ENSP00000349891:p.Arg686fs						p.K686fs	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN			15	2338_2339	+			686						Frame_Shift_Ins	INS	ENST00000357336.3	37	c.2057_2058insA	CCDS43828.1																																																																																				0.337	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		7	174						7	174	---	---	---	---
DCLRE1C	64421	broad.mit.edu	37	10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	ENST00000378278.2	-	14	1270	c.1233delT	c.(1231-1233)tttfs	p.F411fs	DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000453695.2_Frame_Shift_Del_p.F291fs			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	411					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(871-873)ttfs	Non-homologous end-joining	DNA cross-link repair 1C							58.0	63.0	61.0					10																	14951253		2203	4300	6503	SO:0001589	frameshift_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14951253delA	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1233delT	10.37:g.14951253delA	ENSP00000367527:p.Phe411fs					DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs	p.F291fs	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1317	-			411					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Frame_Shift_Del	DEL	ENST00000378278.2	37	c.873delT	CCDS31149.1																																																																																				0.448	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		17	112						17	112	---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)gaafs	p.E478fs	FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.E478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1432-1434)aaafs		family with sequence similarity 111, member A																																				SO:0001589	frameshift_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920573_58920574insA	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1439dupA	11.37:g.58920580_58920580dupA	ENSP00000434435:p.Glu478fs					FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs	p.K478fs			Q96PZ2	F111A_HUMAN			5	4250_4251	+		all_epithelial(135;0.139)	478					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Frame_Shift_Ins	INS	ENST00000528737.1	37	c.1432_1433insA	CCDS7973.1																																																																																				0.406	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		72	165						72	165	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	ENST00000356638.3	-	5	453_454	c.437_438insGTCC	c.(436-438)cccfs	p.-146fs	GANAB_ENST00000346178.4_Frame_Shift_Ins_p.-146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.-32fs|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.-49fs	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGATCTTGTAGGGTCCCTCAGC	0.48																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(436-438)ctafs		glucosidase, alpha; neutral AB																																				SO:0001589	frameshift_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62402415_62402416insGGAC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.437_438insGTCC	11.37:g.62402415_62402416insGGAC	ENSP00000349053:p.Pro146fs					GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.L49fs|GANAB_ENST00000356638.3_Frame_Shift_Ins_p.L146fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.L32fs	p.L146fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			5	452_453	-			146					A6NC20|Q8WTS9|Q9P0X0	Frame_Shift_Ins	INS	ENST00000356638.3	37	c.437_438insGTCC	CCDS8026.1																																																																																				0.480	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		46	136						46	136	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2032-2034)afs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182525_59182526delTC	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2033_2034delGA	15.37:g.59182535_59182536delTC	ENSP00000369887:p.Arg678fs					SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	p.R678fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2120_2121	-			678			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.2033_2034delGA	CCDS10168.2																																																																																				0.431	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		7	392						7	392	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	ENST00000399799.2	-	1	973_974	c.33_34insTTT	c.(31-36)tttgaa>tttTTTgaa	p.11_12insF		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	11					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(31-36)ttaaaa>ttTTTaaaa		Rho-associated, coiled-coil containing protein kinase 1																																				SO:0001652	inframe_insertion	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18690838_18690839insAAA		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.31_33dupTTT	18.37:g.18690839_18690841dupAAA	ENSP00000382697:p.Phe11_Phe11dup						p.11_12insF	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			1	973_974	-	Melanoma(1;0.165)		11					B0YJ91|Q2KHM4|Q59GZ4	In_Frame_Ins	INS	ENST00000399799.2	37	c.33_34insTTT	CCDS11870.2																																																																																				0.485	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		43	140						43	140	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					ENST00000382352.3																			3	Deletion - In frame(3)	p.A159delA(3)	prostate(2)|large_intestine(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(460-465)ccg>c		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del						p.PA154del	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	952_954	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	154					Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																				0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			3	4						3	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---
