#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF1	65121	broad.mit.edu	37	1	12854334	12854334	+	Silent	SNP	C	C	G	rs200915725		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:12854334C>G	ENST00000332296.7	+	3	661	c.558C>G	c.(556-558)gtC>gtG	p.V186V	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	186					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAGCTGGTCAATTATCTAA	0.423																																						uc001auj.1		NA																	0					0						c.(556-558)GTC>GTG		PRAME family member 1							177.0	190.0	186.0					1																	12854334		2203	4297	6500	SO:0001819	synonymous_variant	65121							g.chr1:12854334C>G	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.558C>G	1.37:g.12854334C>G							p.V186V	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	661	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	186					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.558C>G	CCDS148.1																																																																																				0.423	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		10	635	0	0	0	0	10	635				
TFAP2E	339488	broad.mit.edu	37	1	36054125	36054125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:36054125G>A	ENST00000373235.3	+	4	965	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTGCCTCAACGCCTCCCTCCT	0.647																																						uc010ohy.1		NA																	0					0						c.(757-759)GCC>ACC		transcription factor AP-2 epsilon (activating							66.0	61.0	62.0					1																	36054125		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36054125G>A	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.757G>A	1.37:g.36054125G>A	ENSP00000362332:p.Ala253Thr					PSMB2_uc001bzd.1_Intron	p.A253T	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN			4	965	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	253						Missense_Mutation	SNP	ENST00000373235.3	37	c.757G>A	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	35	5.522570	0.96431	.	.	ENSG00000116819	ENST00000373235	D	0.97352	-4.35	5.8	4.88	0.63580	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.99133	1.0853	10	0.87932	D	0	-12.3288	15.2783	0.73760	0.0683:0.0:0.9317:0.0	.	253	Q6VUC0	AP2E_HUMAN	T	253	ENSP00000362332:A253T	ENSP00000362332:A253T	A	+	1	0	TFAP2E	35826712	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.869000	0.99810	2.747000	0.94245	0.462000	0.41574	GCC		0.647	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		24	65	0	0	0	0	24	65				
ST6GALNAC3	256435	broad.mit.edu	37	1	76878016	76878016	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:76878016C>G	ENST00000328299.3	+	3	685	c.537C>G	c.(535-537)atC>atG	p.I179M	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	179					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CAGTTGGTATCTATCCGAATG	0.423																																						uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(535-537)ATC>ATG		sialyltransferase 7C isoform 1							98.0	95.0	96.0					1																	76878016		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76878016C>G		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.537C>G	1.37:g.76878016C>G	ENSP00000329214:p.Ile179Met					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.I179M|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.I114M	p.I179M	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	700	+			179			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.537C>G	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	0.120	-1.126393	0.01770	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.29655	1.56	6.04	4.19	0.49359	.	0.539002	0.20139	N	0.098416	T	0.05731	0.0150	N	0.11201	0.11	0.22226	N	0.999272	B;B;P	0.41848	0.0;0.004;0.763	B;B;B	0.38056	0.003;0.02;0.264	T	0.13150	-1.0520	10	0.23891	T	0.37	-30.3426	8.8479	0.35181	0.0:0.7796:0.0:0.2204	.	114;179;179	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	M	179;179;178;113	ENSP00000329214:I179M	ENSP00000329214:I179M	I	+	3	3	ST6GALNAC3	76650604	0.641000	0.27251	0.967000	0.41034	0.033000	0.12548	0.563000	0.23547	1.576000	0.49790	0.563000	0.77884	ATC		0.423	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		8	61	0	0	0	0	8	61				
PIGK	10026	broad.mit.edu	37	1	77558068	77558068	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:77558068G>A	ENST00000370812.3	-	11	1202	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	PIGK_ENST00000370813.5_Silent_p.F317F|PIGK_ENST00000445065.1_Silent_p.F299F	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	393					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCTAAAAAATGAACTTCATAT	0.328																																						uc001dhk.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1177-1179)TTC>TTT		phosphatidylinositol glycan anchor biosynthesis,							56.0	60.0	58.0					1																	77558068		2203	4300	6503	SO:0001819	synonymous_variant	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77558068G>A	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.1179C>T	1.37:g.77558068G>A						PIGK_uc010orj.1_Silent_p.F317F|PIGK_uc009wbx.2_Silent_p.F299F	p.F393F	NM_005482	NP_005473	Q92643	GPI8_HUMAN			11	1224	-			393	Missing: Loss of activity.		Cytoplasmic (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Silent	SNP	ENST00000370812.3	37	c.1179C>T	CCDS674.1																																																																																				0.328	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		9	51	0	0	0	0	9	51				
SPAG17	200162	broad.mit.edu	37	1	118640375	118640375	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:118640375G>T	ENST00000336338.5	-	7	994	c.929C>A	c.(928-930)aCa>aAa	p.T310K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	310						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAGAGATTTGTTTCAGGTTT	0.378																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(928-930)ACA>AAA		sperm associated antigen 17							189.0	169.0	176.0					1																	118640375		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640375G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.929C>A	1.37:g.118640375G>T	ENSP00000337804:p.Thr310Lys						p.T310K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	997	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	310					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.929C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377609	0.82682	.	.	ENSG00000155761	ENST00000336338	T	0.44881	0.91	5.3	4.37	0.52481	.	0.159242	0.56097	D	0.000028	T	0.40498	0.1119	M	0.68317	2.08	0.26427	N	0.976008	D	0.53462	0.96	P	0.52856	0.711	T	0.34304	-0.9834	10	0.66056	D	0.02	.	14.38	0.66905	0.0726:0.0:0.9274:0.0	.	310	Q6Q759	SPG17_HUMAN	K	310	ENSP00000337804:T310K	ENSP00000337804:T310K	T	-	2	0	SPAG17	118441898	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.055000	0.71103	1.177000	0.42855	0.650000	0.86243	ACA		0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		326	47	1	0	2.44e-143	1.16e-142	326	47				
NOTCH2	4853	broad.mit.edu	37	1	120458562	120458562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:120458562C>G	ENST00000256646.2	-	34	7002	c.6783G>C	c.(6781-6783)gaG>gaC	p.E2261D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2261					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)		TGTACTGGGTCTCATTCACCT	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(6781-6783)GAG>GAC		notch 2 preproprotein							126.0	123.0	124.0					1																	120458562		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.chr1:120458562C>G	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.6783G>C	1.37:g.120458562C>G	ENSP00000256646:p.Glu2261Asp						p.E2261D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7039	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2261			Cytoplasmic (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.6783G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	1.545	-0.540646	0.04053	.	.	ENSG00000134250	ENST00000256646	D	0.82081	-1.57	5.5	1.18	0.20946	.	0.000000	0.38217	U	0.001770	T	0.51618	0.1685	L	0.40543	1.245	0.27003	N	0.964874	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.18710	T	0.47	.	7.6298	0.28232	0.0:0.4675:0.3157:0.2169	.	2261	Q04721	NOTC2_HUMAN	D	2261	ENSP00000256646:E2261D	ENSP00000256646:E2261D	E	-	3	2	NOTCH2	120260085	0.000000	0.05858	0.924000	0.36721	0.530000	0.34684	-1.339000	0.02652	-0.275000	0.09219	-1.134000	0.01955	GAG		0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		71	250	0	0	0	0	71	250				
S100A10	6281	broad.mit.edu	37	1	151955750	151955750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:151955750C>A	ENST00000368811.3	-	3	842	c.183G>T	c.(181-183)caG>caT	p.Q61H	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.Q61H	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	61	Ancestral calcium site.				cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATCTCTACACTGGTCCAGGT	0.423																																						uc001ezl.2		NA																	0					0						c.(181-183)CAG>CAT		S100 calcium binding protein A10							132.0	134.0	133.0					1																	151955750		2203	4300	6503	SO:0001583	missense	6281				signal transduction		calcium ion binding|receptor binding	g.chr1:151955750C>A	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.183G>T	1.37:g.151955750C>A	ENSP00000357801:p.Gln61His						p.Q61H	NM_002966	NP_002957	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	691	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		61			Ancestral calcium site.		A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	c.183G>T	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900258	0.33535	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.06687	3.27;3.27	5.45	4.54	0.55810	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.110120	0.64402	D	0.000011	T	0.02230	0.0069	.	.	.	0.28414	N	0.918049	B	0.14438	0.01	B	0.15484	0.013	T	0.36720	-0.9736	9	0.48119	T	0.1	.	7.63	0.28234	0.0:0.7493:0.165:0.0856	.	61	P60903	S10AA_HUMAN	H	61	ENSP00000357801:Q61H;ENSP00000357799:Q61H	ENSP00000357799:Q61H	Q	-	3	2	S100A10	150222374	0.995000	0.38212	1.000000	0.80357	0.954000	0.61252	0.277000	0.18734	1.545000	0.49373	-0.136000	0.14681	CAG		0.423	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		26	124	1	0	3.29e-13	1.53e-12	26	124				
TCHH	7062	broad.mit.edu	37	1	152081918	152081918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:152081918G>A	ENST00000368804.1	-	2	3774	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1259					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCGCGCAGCTGGGAA	0.537																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3775-3777)CGC>TGC		trichohyalin							76.0	77.0	77.0					1																	152081918		2019	4173	6192	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081918G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3775C>T	1.37:g.152081918G>A	ENSP00000357794:p.Arg1259Cys					TCHH_uc009wne.1_Missense_Mutation_p.R1259C	p.R1259C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3775	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1259					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3775C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994385	0.35226	.	.	ENSG00000159450	ENST00000368804	T	0.09073	3.02	3.93	1.9	0.25705	.	.	.	.	.	T	0.05318	0.0141	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.27536	-1.0071	9	0.66056	D	0.02	.	2.7093	0.05170	0.1088:0.1795:0.5279:0.1838	.	1259	Q07283	TRHY_HUMAN	C	1259	ENSP00000357794:R1259C	ENSP00000357794:R1259C	R	-	1	0	TCHH	150348542	0.002000	0.14202	0.001000	0.08648	0.302000	0.27658	0.860000	0.27871	0.647000	0.30713	0.563000	0.77884	CGC		0.537	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		29	93	0	0	0	0	29	93				
FCRL3	115352	broad.mit.edu	37	1	157666098	157666098	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V288V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTAGATTCACATTAGACA	0.522																																						uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.(862-864)GTG>GTA		Fc receptor-like 3 precursor							77.0	74.0	75.0					1																	157666098		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666098C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.864G>A	1.37:g.157666098C>T						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.V288V|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.V14V|FCRL3_uc001frc.1_Silent_p.V288V	p.V288V	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1156	-	all_hematologic(112;0.0378)		288			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.864G>A	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		14	97	0	0	0	0	14	97				
PIGM	93183	broad.mit.edu	37	1	160001164	160001164	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:160001164G>A	ENST00000368090.2	-	1	619	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	122					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAAGCCTGGCGGCGCCCCA	0.577																																						uc001fuv.1		NA																	0				ovary(2)|skin(1)	3						c.(364-366)CGC>CGT		phosphatidylinositol glycan anchor biosynthesis,							35.0	40.0	38.0					1																	160001164		2203	4300	6503	SO:0001819	synonymous_variant	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160001164G>A	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.366C>T	1.37:g.160001164G>A							p.R122R	NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	620	-	all_hematologic(112;0.093)		122			Cytoplasmic (Potential).			Silent	SNP	ENST00000368090.2	37	c.366C>T	CCDS1192.1																																																																																				0.577	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		12	64	0	0	0	0	12	64				
DDR2	4921	broad.mit.edu	37	1	162737067	162737067	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:162737067G>C	ENST00000367922.3	+	12	1649	c.1211G>C	c.(1210-1212)tGc>tCc	p.C404S	DDR2_ENST00000367921.3_Missense_Mutation_p.C404S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	404					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTGATTGGCTGCTTGGTGGCC	0.483																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1210-1212)TGC>TCC		discoidin domain receptor family, member 2							213.0	191.0	199.0					1																	162737067		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162737067G>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1211G>C	1.37:g.162737067G>C	ENSP00000356899:p.Cys404Ser					DDR2_uc001gcg.2_Missense_Mutation_p.C404S	p.C404S	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		12	1676	+	all_hematologic(112;0.115)		404			Helical; (Potential).		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1211G>C	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804530	0.90623	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	D;D;T	0.84589	-1.87;-1.87;0.84	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	M	0.80183	2.485	0.41322	D	0.987185	D	0.56035	0.974	P	0.55615	0.78	D	0.88765	0.3260	9	0.45353	T	0.12	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	404	Q16832	DDR2_HUMAN	S	404;404;14	ENSP00000356899:C404S;ENSP00000356898:C404S;ENSP00000417030:C14S	ENSP00000356898:C404S	C	+	2	0	DDR2	161003691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.295000	0.96095	2.733000	0.93635	0.655000	0.94253	TGC		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		30	165	0	0	0	0	30	165				
DUSP27	92235	broad.mit.edu	37	1	167088617	167088617	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167088617A>G	ENST00000361200.2	+	5	735	c.569A>G	c.(568-570)gAg>gGg	p.E190G	DUSP27_ENST00000443333.1_Missense_Mutation_p.E190G|DUSP27_ENST00000271385.5_Missense_Mutation_p.E190G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	190					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGGGTGTAGAGGTGGATGAC	0.557																																						uc001geb.1		NA																	0				ovary(3)	3						c.(568-570)GAG>GGG		dual specificity phosphatase 27							135.0	118.0	124.0					1																	167088617		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088617A>G	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.569A>G	1.37:g.167088617A>G	ENSP00000354483:p.Glu190Gly						p.E190G	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	569	+			190					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.569A>G	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570073	0.86542	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	D;D;D	0.85773	-2.03;-2.03;-2.03	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.80616	2.505	0.45883	D	0.998735	D	0.89917	1.0	D	0.87578	0.998	D	0.92451	0.5970	10	0.72032	D	0.01	-30.3781	15.0182	0.71605	1.0:0.0:0.0:0.0	.	190	Q5VZP5	DUS27_HUMAN	G	190	ENSP00000354483:E190G;ENSP00000271385:E190G;ENSP00000404874:E190G	ENSP00000271385:E190G	E	+	2	0	DUSP27	165355241	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	1.936000	0.56123	0.482000	0.46254	GAG		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	47	0	0	0	0	15	47				
DCAF6	55827	broad.mit.edu	37	1	167971802	167971802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:167971802G>A	ENST00000312263.6	+	8	1190	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	DCAF6_ENST00000367840.3_Missense_Mutation_p.R329Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R329Q|DCAF6_ENST00000432587.2_Missense_Mutation_p.R298Q	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	329					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAGAGTGAACGAGAACGAGAT	0.373																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(985-987)CGA>CAA		IQ motif and WD repeats 1 isoform b							147.0	147.0	147.0					1																	167971802		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167971802G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.986G>A	1.37:g.167971802G>A	ENSP00000311949:p.Arg329Gln					DCAF6_uc001gev.2_Missense_Mutation_p.R329Q|DCAF6_uc001gex.2_Missense_Mutation_p.R329Q|DCAF6_uc010plk.1_Missense_Mutation_p.R298Q|DCAF6_uc001gey.2_Missense_Mutation_p.R182Q	p.R329Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			8	1228	+			329					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.986G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997490	0.93227	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.81078	-1.44;0.27;-1.44;-1.45	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.120691	0.53938	D	0.000048	T	0.81697	0.4877	L	0.35414	1.06	0.43890	D	0.996512	D;D;D;D	0.76494	0.999;0.999;0.997;0.998	D;D;P;P	0.72625	0.978;0.922;0.723;0.883	T	0.78117	-0.2329	9	0.29301	T	0.29	.	19.6852	0.95977	0.0:0.0:1.0:0.0	.	298;329;329;329	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	Q	329;298;329;329	ENSP00000356817:R329Q;ENSP00000396238:R298Q;ENSP00000311949:R329Q;ENSP00000356814:R329Q	ENSP00000311949:R329Q	R	+	2	0	DCAF6	166238426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.698000	0.91311	2.740000	0.93945	0.585000	0.79938	CGA		0.373	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		12	84	0	0	0	0	12	84				
TIPRL	261726	broad.mit.edu	37	1	168153231	168153231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:168153231G>A	ENST00000367833.2	+	2	341	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E66K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	66					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CTTTGGAATTGAGTTCAATGC	0.428																																						uc001gfg.2		NA																	0				ovary(1)	1						c.(196-198)GAG>AAG		TIP41, TOR signalling pathway regulator-like							138.0	125.0	129.0					1																	168153231		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168153231G>A	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.196G>A	1.37:g.168153231G>A	ENSP00000356807:p.Glu66Lys					TIPRL_uc001gfh.2_Missense_Mutation_p.E66K|TIPRL_uc001gff.2_Missense_Mutation_p.E66K	p.E66K	NM_152902	NP_690866	O75663	TIPRL_HUMAN			2	341	+	all_hematologic(923;0.215)		66					B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.196G>A	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248039	0.95305	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.78801	2.425	0.44268	D	0.997121	P;P	0.38223	0.623;0.51	P;B	0.47786	0.557;0.295	T	0.63642	-0.6591	8	0.30078	T	0.28	-16.9848	14.1908	0.65637	0.0723:0.0:0.9277:0.0	.	66;66	O75663;O75663-2	TIPRL_HUMAN;.	K	66	.	ENSP00000356804:E66K	E	+	1	0	TIPRL	166419855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.477000	0.81069	1.403000	0.46800	0.655000	0.94253	GAG		0.428	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		17	72	0	0	0	0	17	72				
ASTN1	460	broad.mit.edu	37	1	177000057	177000057	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:177000057G>T	ENST00000367654.3	-	4	1108	c.897C>A	c.(895-897)aaC>aaA	p.N299K	ASTN1_ENST00000424564.2_Missense_Mutation_p.N299K|ASTN1_ENST00000367657.3_Missense_Mutation_p.N299K|ASTN1_ENST00000361833.2_Missense_Mutation_p.N299K|ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	299					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTATACTTGTTCATCAGTG	0.443																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(895-897)AAC>AAA		astrotactin isoform 1							135.0	133.0	134.0					1																	177000057		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177000057G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.897C>A	1.37:g.177000057G>T	ENSP00000356626:p.Asn299Lys					ASTN1_uc001glb.1_Missense_Mutation_p.N299K|ASTN1_uc001gld.1_Missense_Mutation_p.N299K|ASTN1_uc009wwx.1_Missense_Mutation_p.N299K|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.N299K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			4	1109	-			299					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.897C>A		.	.	.	.	.	.	.	.	.	.	G	17.86	3.493593	0.64186	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.9;2.9;2.49	5.7	4.79	0.61399	.	0.045207	0.85682	D	0.000000	T	0.22627	0.0546	N	0.24115	0.695	0.52501	D	0.999953	D;D;D	0.67145	0.996;0.989;0.989	D;D;D	0.75484	0.986;0.979;0.979	T	0.03761	-1.1006	10	0.27785	T	0.31	-45.029	14.5004	0.67716	0.0712:0.0:0.9288:0.0	.	299;299;299	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	299	ENSP00000356629:N299K;ENSP00000354536:N299K;ENSP00000356626:N299K;ENSP00000395041:N299K	ENSP00000354536:N299K	N	-	3	2	ASTN1	175266680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.287000	0.72671	1.395000	0.46643	0.655000	0.94253	AAC		0.443	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		9	67	1	0	7.48e-07	3.38e-06	9	67				
CFHR2	3080	broad.mit.edu	37	1	196882040	196882040	+	Intron	SNP	C	C	A	rs375638682		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:196882040C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.P72T|CFHR4_ENST00000367418.2_Missense_Mutation_p.P143T|CFHR4_ENST00000367416.2_Missense_Mutation_p.P389T|CFHR4_ENST00000251424.4_Missense_Mutation_p.P143T			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GTCAGCACAACCAATTTGCAT	0.313																																						uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(427-429)CCA>ACA		complement factor H-related 4 precursor		C	THR/PRO,THR/PRO,THR/PRO	0,4404		0,0,2202	87.0	94.0	92.0		1168,1165,427	2.1	0.2	1		92	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense,missense	CFHR4	NM_001201550.2,NM_001201551.1,NM_006684.4	38,38,38	0,2,6496	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	390/579,389/578,143/332	196882040	2,12994	2202	4296	6498	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196882040C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36545C>A	1.37:g.196882040C>A						CFHR4_uc009wyy.2_Missense_Mutation_p.P389T|CFHR4_uc001gtp.2_Missense_Mutation_p.P390T	p.P143T	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	496	+			143			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.427C>A		.	.	.	.	.	.	.	.	.	.	C	12.83	2.054896	0.36277	0.0	2.33E-4	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.77489	-1.1;-1.1;-1.1	2.11	2.11	0.27256	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87748	0.6255	M	0.88775	2.98	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74931	-0.3496	9	0.72032	D	0.01	.	7.7439	0.28858	0.0:1.0:0.0:0.0	.	389;390;143	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	T	389;143;143;143	ENSP00000356386:P389T;ENSP00000356388:P143T;ENSP00000251424:P143T	ENSP00000251424:P143T	P	+	1	0	CFHR4	195148663	0.123000	0.22298	0.192000	0.23308	0.290000	0.27261	1.826000	0.39092	1.476000	0.48215	0.205000	0.17691	CCA		0.313	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		42	75	1	0	5.86e-14	2.74e-13	42	75				
KIF21B	23046	broad.mit.edu	37	1	200944711	200944711	+	Silent	SNP	G	G	A	rs150393728		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:200944711G>A	ENST00000422435.2	-	33	4846	c.4530C>T	c.(4528-4530)ctC>ctT	p.L1510L	KIF21B_ENST00000461742.2_Silent_p.L1510L|KIF21B_ENST00000360529.5_Silent_p.L1497L|KIF21B_ENST00000332129.2_Silent_p.L1497L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1510					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTGGATGGCGAGACACTCGA	0.607																																						uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(4528-4530)CTC>CTT		kinesin family member 21B		G		3,4403	6.2+/-15.9	0,3,2200	107.0	86.0	93.0		4491	-10.0	0.8	1	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF21B	NM_017596.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		1497/1625	200944711	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944711G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4530C>T	1.37:g.200944711G>A						KIF21B_uc001gvr.1_Silent_p.L1497L|KIF21B_uc009wzl.1_Silent_p.L1510L|KIF21B_uc010ppn.1_Silent_p.L1497L	p.L1510L	NM_017596	NP_060066	O75037	KI21B_HUMAN			33	4847	-			1510			WD 5.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4530C>T	CCDS58056.1																																																																																				0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		9	77	0	0	0	0	9	77				
TRAF3IP3	80342	broad.mit.edu	37	1	209949072	209949072	+	Silent	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:209949072C>A	ENST00000367024.1	+	11	1560	c.1044C>A	c.(1042-1044)tcC>tcA	p.S348S	TRAF3IP3_ENST00000367026.3_Silent_p.S328S|TRAF3IP3_ENST00000367025.3_Silent_p.S348S|TRAF3IP3_ENST00000010338.4_Silent_p.S328S|TRAF3IP3_ENST00000477431.1_Silent_p.S84S|TRAF3IP3_ENST00000400959.3_Silent_p.S328S|TRAF3IP3_ENST00000367023.1_Silent_p.S84S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	348						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCTTCAGTCCAAACTGCAGG	0.582																																						uc001hho.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1042-1044)TCC>TCA		TRAF3-interacting JNK-activating modulator							39.0	38.0	39.0					1																	209949072		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209949072C>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1044C>A	1.37:g.209949072C>A						TRAF3IP3_uc001hhl.2_Silent_p.S328S|TRAF3IP3_uc001hhm.1_Silent_p.S348S|TRAF3IP3_uc001hhn.2_Silent_p.S328S|TRAF3IP3_uc009xcr.2_Silent_p.S348S	p.S348S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	11	1334	+			348			Cytoplasmic (Potential).|Potential.		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.1044C>A	CCDS1490.2																																																																																				0.582	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			8	40	1	0	0.000157383	0.000681197	8	40				
TMEM206	55248	broad.mit.edu	37	1	212553337	212553337	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:212553337G>A	ENST00000261455.4	-	5	675	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	TMEM206_ENST00000535273.1_Missense_Mutation_p.R241W	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	180						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ACCAGCTCCCGCTTTTTCACT	0.537																																						uc001hjc.3		NA																	0				breast(1)	1						c.(538-540)CGG>TGG		transmembrane protein 206							73.0	79.0	77.0					1																	212553337		2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212553337G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.538C>T	1.37:g.212553337G>A	ENSP00000261455:p.Arg180Trp					TMEM206_uc010pte.1_Missense_Mutation_p.R241W	p.R180W	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	5	706	-			180			Extracellular (Potential).		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.538C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351475	0.82132	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	4.59	0.56863	.	0.194045	0.51477	D	0.000087	T	0.62756	0.2454	L	0.27053	0.805	0.42010	D	0.990936	D;D	0.89917	1.0;0.998	D;P	0.70935	0.971;0.629	T	0.66598	-0.5883	9	0.87932	D	0	-11.3318	13.2225	0.59896	0.0:0.0:0.7276:0.2724	.	241;180	B7Z4D6;Q9H813	.;TM206_HUMAN	W	180;241	.	ENSP00000261455:R180W	R	-	1	2	TMEM206	210619960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.075000	0.57584	2.635000	0.89317	0.650000	0.86243	CGG		0.537	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		34	72	0	0	0	0	34	72				
ESRRG	2104	broad.mit.edu	37	1	216737606	216737606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:216737606C>A	ENST00000408911.3	-	5	970	c.817G>T	c.(817-819)Gac>Tac	p.D273Y	ESRRG_ENST00000463665.1_Missense_Mutation_p.D211Y|ESRRG_ENST00000361525.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000493603.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000359162.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000366940.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000361395.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000487276.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000360012.3_Missense_Mutation_p.D250Y|ESRRG_ENST00000366938.2_Missense_Mutation_p.D250Y|ESRRG_ENST00000366937.1_Missense_Mutation_p.D285Y|ESRRG_ENST00000493748.1_Missense_Mutation_p.D250Y|ESRRG_ENST00000391890.3_Missense_Mutation_p.D257Y	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	273					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D273N(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AACTCTCGGTCGGCCAAGTCA	0.458																																						uc001hkw.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|kidney(1)	2						c.(817-819)GAC>TAC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						173.0	152.0	159.0					1																	216737606		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737606C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.817G>T	1.37:g.216737606C>A	ENSP00000386171:p.Asp273Tyr					ESRRG_uc001hky.1_Missense_Mutation_p.D250Y|ESRRG_uc009xdp.1_Missense_Mutation_p.D250Y|ESRRG_uc001hkz.1_Missense_Mutation_p.D211Y|ESRRG_uc010puc.1_Missense_Mutation_p.D250Y|ESRRG_uc001hla.1_Missense_Mutation_p.D250Y|ESRRG_uc001hlb.1_Missense_Mutation_p.D250Y|ESRRG_uc010pud.1_Missense_Mutation_p.D81Y|ESRRG_uc001hlc.1_Missense_Mutation_p.D250Y|ESRRG_uc001hld.1_Missense_Mutation_p.D250Y|ESRRG_uc001hkx.1_Missense_Mutation_p.D285Y|ESRRG_uc009xdo.1_Missense_Mutation_p.D250Y|ESRRG_uc001hle.1_Missense_Mutation_p.D250Y	p.D273Y	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	983	-			273					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.817G>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335607	0.81801	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	5.56	5.56	0.83823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.99293	1.0899	10	0.87932	D	0	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	211;285;273	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	Y	250;250;285;273;250;250;250;250;250;257;211;250;250;250;250	ENSP00000355225:D250Y;ENSP00000355907:D250Y;ENSP00000355904:D285Y;ENSP00000386171:D273Y;ENSP00000352077:D250Y;ENSP00000354584:D250Y;ENSP00000355905:D250Y;ENSP00000353108:D250Y;ENSP00000419594:D250Y;ENSP00000375761:D257Y;ENSP00000418629:D211Y;ENSP00000419155:D250Y;ENSP00000417374:D250Y;ENSP00000419514:D250Y	ENSP00000346386:D250Y	D	-	1	0	ESRRG	214804229	1.000000	0.71417	0.895000	0.35142	0.667000	0.39255	7.818000	0.86416	2.605000	0.88082	0.655000	0.94253	GAC		0.458	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		17	85	1	0	5.39e-06	2.4e-05	17	85				
ADARB2	105	broad.mit.edu	37	10	1405267	1405267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:1405267G>A	ENST00000381312.1	-	3	1358	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	345					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGTGGCCGGGCATCTGGATG	0.761																																						uc009xhq.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1033-1035)CCC>TCC		adenosine deaminase, RNA-specific, B2							6.0	8.0	7.0					10																	1405267		2094	4123	6217	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405267G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1033C>T	10.37:g.1405267G>A	ENSP00000370713:p.Pro345Ser						p.P345S	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1407	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	345					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1033C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087503	0.20390	.	.	ENSG00000185736	ENST00000381312	T	0.25085	1.82	5.24	4.32	0.51571	.	0.325539	0.37261	N	0.002164	T	0.27169	0.0666	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.04255	-1.0965	10	0.45353	T	0.12	-32.4594	12.8447	0.57823	0.0:0.0:0.7034:0.2966	.	345	Q9NS39	RED2_HUMAN	S	345	ENSP00000370713:P345S	ENSP00000370713:P345S	P	-	1	0	ADARB2	1395267	1.000000	0.71417	0.979000	0.43373	0.090000	0.18270	3.229000	0.51278	1.164000	0.42652	0.561000	0.74099	CCC		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	12	0	0	0	0	5	12				
CFAP70	118491	broad.mit.edu	37	10	75104930	75104930	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75104930G>T	ENST00000310715.3	-	6	622	c.502C>A	c.(502-504)Cta>Ata	p.L168I	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.L168I|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000340329.3_Missense_Mutation_p.L168I|TTC18_ENST00000401621.2_Missense_Mutation_p.L168I	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		168						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCTTCAGTAGATTGCCCCCT	0.468																																						uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(502-504)CTA>ATA		tetratricopeptide repeat domain 18							144.0	131.0	136.0					10																	75104930		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75104930G>T																												ENST00000310715.3:c.502C>A	10.37:g.75104930G>T	ENSP00000310829:p.Leu168Ile					TTC18_uc001jty.2_Missense_Mutation_p.L168I|TTC18_uc009xrd.1_5'UTR	p.L168I	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			6	623	-	Prostate(51;0.0119)		168					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.502C>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213873	0.39102	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.65	4.75	0.60458	.	0.319543	0.30732	N	0.008990	T	0.30479	0.0766	L	0.50333	1.59	0.28025	N	0.93438	P	0.48230	0.907	P	0.45794	0.493	T	0.23583	-1.0184	10	0.51188	T	0.08	-16.7681	7.4229	0.27081	0.0844:0.0:0.7501:0.1655	.	168	Q5T0N1	TTC18_HUMAN	I	168	ENSP00000310829:L168I;ENSP00000384479:L168I;ENSP00000343650:L168I;ENSP00000378334:L168I	ENSP00000310829:L168I	L	-	1	2	TTC18	74774936	1.000000	0.71417	0.980000	0.43619	0.680000	0.39746	1.698000	0.37794	1.380000	0.46344	0.585000	0.79938	CTA		0.468	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				32	123	1	0	5.92e-21	2.79e-20	32	123				
MYOZ1	58529	broad.mit.edu	37	10	75397509	75397509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:75397509C>T	ENST00000359322.4	-	3	609	c.245G>A	c.(244-246)aGc>aAc	p.S82N		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CACCATTGAGCTGTCAGAGAA	0.483																																						uc001jur.2		NA																	0				ovary(2)	2						c.(244-246)AGC>AAC		myozenin 1							130.0	121.0	124.0					10																	75397509		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75397509C>T	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.245G>A	10.37:g.75397509C>T	ENSP00000352272:p.Ser82Asn						p.S82N	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			3	610	-	Prostate(51;0.0112)		82						Missense_Mutation	SNP	ENST00000359322.4	37	c.245G>A	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397591	0.25205	.	.	ENSG00000177791	ENST00000359322	T	0.63744	-0.06	6.17	2.96	0.34315	.	0.203531	0.64402	N	0.000009	T	0.30103	0.0754	N	0.03281	-0.365	0.31423	N	0.674012	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.07482	T	0.82	-12.6219	7.1694	0.25710	0.0:0.5806:0.0:0.4194	.	82	Q9NP98	MYOZ1_HUMAN	N	82	ENSP00000352272:S82N	ENSP00000352272:S82N	S	-	2	0	MYOZ1	75067515	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.871000	0.39539	0.956000	0.37904	-0.136000	0.14681	AGC		0.483	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			25	108	0	0	0	0	25	108				
CNNM1	26507	broad.mit.edu	37	10	101120712	101120712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:101120712C>T	ENST00000356713.4	+	3	2127	c.1838C>T	c.(1837-1839)aCa>aTa	p.T613I	CNNM1_ENST00000370528.3_Missense_Mutation_p.T542I|CNNM1_ENST00000446890.1_Missense_Mutation_p.T542I|CNNM1_ENST00000370534.4_Missense_Mutation_p.T248I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	613					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTGCTAGCCACACACCGCTTC	0.537																																						uc001kpp.3		NA																	0					0						c.(1837-1839)ACA>ATA		cyclin M1							80.0	72.0	75.0					10																	101120712		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120712C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1838C>T	10.37:g.101120712C>T	ENSP00000349147:p.Thr613Ile					CNNM1_uc009xwe.2_Missense_Mutation_p.T613I|CNNM1_uc010qpi.1_Missense_Mutation_p.T613I|CNNM1_uc009xwf.2_Missense_Mutation_p.T613I|CNNM1_uc009xwg.2_Missense_Mutation_p.T13I	p.T613I	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2127	+		Colorectal(252;0.234)	613					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1838C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885903	0.72410	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.84146	-1.79;-1.81;-1.78;-0.75	5.74	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.63428	1.95	0.80722	D	1	P;D;P;B	0.57571	0.532;0.98;0.458;0.391	B;P;B;B	0.60286	0.259;0.872;0.271;0.186	D	0.88972	0.3401	10	0.42905	T	0.14	-19.9751	14.4951	0.67680	0.0:0.9298:0.0:0.0702	.	248;613;248;613	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	I	613;542;542;248;66	ENSP00000349147:T613I;ENSP00000406492:T542I;ENSP00000359559:T542I;ENSP00000359565:T248I	ENSP00000349147:T613I	T	+	2	0	CNNM1	101110702	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	4.976000	0.63785	1.431000	0.47355	0.655000	0.94253	ACA		0.537	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		16	57	0	0	0	0	16	57				
GBF1	8729	broad.mit.edu	37	10	104122290	104122290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr10:104122290T>C	ENST00000369983.3	+	15	2002	c.1742T>C	c.(1741-1743)cTa>cCa	p.L581P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	581					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTTGATGCCCTATTGACAGTG	0.488																																						uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1741-1743)CTA>CCA		golgi-specific brefeldin A resistant guanine							195.0	167.0	177.0					10																	104122290		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104122290T>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1742T>C	10.37:g.104122290T>C	ENSP00000359000:p.Leu581Pro					GBF1_uc001kuy.1_Missense_Mutation_p.L581P|GBF1_uc001kuz.1_Missense_Mutation_p.L582P	p.L581P	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	15	1982	+		Colorectal(252;0.0236)	581					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1742T>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825884	0.90955	.	.	ENSG00000107862	ENST00000369983	T	0.22134	1.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.37934	-0.9684	10	0.30854	T	0.27	-7.9114	16.5764	0.84681	0.0:0.0:0.0:1.0	.	581;581;581	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	581	ENSP00000359000:L581P	ENSP00000359000:L581P	L	+	2	0	GBF1	104112280	1.000000	0.71417	0.941000	0.38009	0.930000	0.56654	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	CTA		0.488	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			3	148	0	0	0	0	3	148				
OR52E2	119678	broad.mit.edu	37	11	5080740	5080740	+	Missense_Mutation	SNP	C	C	T	rs370651935		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:5080740C>T	ENST00000321522.2	-	1	117	c.118G>A	c.(118-120)Gca>Aca	p.A40T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTATGAGTGCGATCATGTAC	0.512																																						uc010qyw.1		NA																	0				ovary(2)|skin(1)	3						c.(118-120)GCA>ACA		olfactory receptor, family 52, subfamily E,		C	THR/ALA	2,4400	4.2+/-10.8	0,2,2199	122.0	107.0	112.0		118	3.6	0.9	11		112	0,8596		0,0,4298	no	missense	OR52E2	NM_001005164.2	58	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	40/326	5080740	2,12996	2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080740C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.118G>A	11.37:g.5080740C>T	ENSP00000322088:p.Ala40Thr						p.A40T	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	118	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	40			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.118G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054251	0.36277	4.54E-4	0.0	ENSG00000176787	ENST00000321522	T	0.00507	6.92	3.57	3.57	0.40892	.	0.000000	0.48286	D	0.000187	T	0.00241	0.0007	N	0.16368	0.405	0.29449	N	0.858621	P	0.50819	0.939	B	0.34536	0.185	T	0.55055	-0.8200	10	0.56958	D	0.05	.	4.6259	0.12477	0.2181:0.6696:0.0:0.1123	.	40	Q8NGJ4	O52E2_HUMAN	T	40	ENSP00000322088:A40T	ENSP00000322088:A40T	A	-	1	0	OR52E2	5037316	0.000000	0.05858	0.888000	0.34837	0.338000	0.28826	-0.195000	0.09546	2.322000	0.78497	0.650000	0.86243	GCA		0.512	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		13	52	0	0	0	0	13	52				
RBMXL2	27288	broad.mit.edu	37	11	7111302	7111302	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:7111302T>C	ENST00000306904.5	+	1	1138	c.951T>C	c.(949-951)gaT>gaC	p.D317D		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	317	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCACCCGATGCCTACAGCG	0.687																																						uc001mfc.2		NA																	0					0						c.(949-951)GAT>GAC		testes-specific heterogenous nuclear							17.0	19.0	18.0					11																	7111302		2195	4286	6481	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111302T>C	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.951T>C	11.37:g.7111302T>C							p.D317D	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1138	+			317			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.951T>C	CCDS7777.1																																																																																				0.687	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		7	27	0	0	0	0	7	27				
MRGPRX3	117195	broad.mit.edu	37	11	18159705	18159705	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:18159705G>C	ENST00000396275.2	+	3	1317	c.956G>C	c.(955-957)aGa>aCa	p.R319T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	319				R -> K (in Ref. 2; AAL86878). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGGGAAGCAGATTGGAGCAG	0.542																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(955-957)AGA>ACA		MAS-related GPR, member X3							38.0	42.0	41.0					11																	18159705		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159705G>C		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.956G>C	11.37:g.18159705G>C	ENSP00000379571:p.Arg319Thr						p.R319T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	1317	+			319	R -> K (in Ref. 2; AAL86878).		Cytoplasmic (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.956G>C	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	6.991	0.552965	0.13374	.	.	ENSG00000179826	ENST00000396275	T	0.23348	1.91	1.12	1.12	0.20585	.	1.890080	0.02341	N	0.074954	T	0.24661	0.0598	L	0.59436	1.845	0.09310	N	1	B	0.33022	0.394	B	0.27500	0.08	T	0.21314	-1.0249	10	0.32370	T	0.25	.	5.5669	0.17175	0.0:0.0:1.0:0.0	.	319	Q96LB0	MRGX3_HUMAN	T	319	ENSP00000379571:R319T	ENSP00000379571:R319T	R	+	2	0	MRGPRX3	18116281	0.010000	0.17322	0.002000	0.10522	0.065000	0.16274	0.782000	0.26788	0.898000	0.36418	0.430000	0.28490	AGA		0.542	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		4	56	0	0	0	0	4	56				
SLC1A2	6506	broad.mit.edu	37	11	35308409	35308409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:35308409G>A	ENST00000278379.3	-	8	1463	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A385V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A394V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	394					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GTTAATGGTTGCTCCAACAGG	0.468																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1180-1182)GCA>GTA		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						208.0	192.0	198.0					11																	35308409		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308409G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1181C>T	11.37:g.35308409G>A	ENSP00000278379:p.Ala394Val					SLC1A2_uc001mwe.2_Missense_Mutation_p.A385V|SLC1A2_uc010rev.1_Missense_Mutation_p.A394V	p.A394V	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1773	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	394					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1181C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.720039|5.720039	0.96839|0.96839	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.62639|.	0.01;0.01;0.01|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sodium:dicarboxylate symporter, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88123|.	0.6352|.	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.996;0.996|.	D|.	0.90831|.	0.4716|.	10|.	0.87932|.	D|.	0|.	-14.6694|-14.6694	20.024|20.024	0.97514|0.97514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	394;394|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	V|X	394;385;385|112	ENSP00000278379:A394V;ENSP00000379099:A385V;ENSP00000379102:A385V|.	ENSP00000278379:A394V|.	A|Q	-|-	2|1	0|0	SLC1A2|SLC1A2	35264985|35264985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	9.813000|9.813000	0.99286|0.99286	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GCA|CAA		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		24	190	0	0	0	0	24	190				
OR8J1	219477	broad.mit.edu	37	11	56128260	56128260	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56128260G>C	ENST00000303039.3	+	1	570	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTTTACTGTGATAATGTTCC	0.343																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(538-540)GAT>CAT		olfactory receptor, family 8, subfamily J,							139.0	125.0	130.0					11																	56128260		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128260G>C	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.538G>C	11.37:g.56128260G>C	ENSP00000304060:p.Asp180His						p.D180H	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	538	+	Esophageal squamous(21;0.00448)		180			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.538G>C	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469738	0.43839	.	.	ENSG00000172487	ENST00000303039	T	0.00164	8.64	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00552	0.0018	M	0.93283	3.4	0.27537	N	0.950916	D	0.89917	1.0	D	0.97110	1.0	T	0.14035	-1.0487	10	0.87932	D	0	.	6.8343	0.23927	0.0971:0.0:0.7253:0.1775	.	180	Q8NGP2	OR8J1_HUMAN	H	180	ENSP00000304060:D180H	ENSP00000304060:D180H	D	+	1	0	OR8J1	55884836	1.000000	0.71417	0.992000	0.48379	0.778000	0.44026	4.641000	0.61375	2.185000	0.69588	0.549000	0.68633	GAT		0.343	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		21	62	0	0	0	0	21	62				
OR5AR1	219493	broad.mit.edu	37	11	56431506	56431506	+	Silent	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr11:56431506G>C	ENST00000302969.2	+	1	369	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTATGTCCTGGCAGCCATGG	0.498																																						uc010rjm.1		NA																	0					0						c.(343-345)CTG>CTC		olfactory receptor, family 5, subfamily AR,							168.0	162.0	164.0					11																	56431506		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431506G>C	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.345G>C	11.37:g.56431506G>C							p.L115L	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	345	+			115			Helical; Name=3; (Potential).		Q6IF61	Silent	SNP	ENST00000302969.2	37	c.345G>C	CCDS31535.1																																																																																				0.498	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		31	213	0	0	0	0	31	213				
KCNA6	3742	broad.mit.edu	37	12	4919817	4919817	+	Nonsense_Mutation	SNP	C	C	T	rs371322666		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:4919817C>T	ENST00000280684.3	+	1	1476	c.610C>T	c.(610-612)Cga>Tga	p.R204*	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Nonsense_Mutation_p.R204*			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	204					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGTAGATGGTCGAGGTGGAAA	0.542										HNSCC(72;0.22)																												uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(610-612)CGA>TGA		potassium voltage-gated channel, shaker-related							76.0	67.0	70.0					12																	4919817		2203	4300	6503	SO:0001587	stop_gained	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919817C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.610C>T	12.37:g.4919817C>T	ENSP00000280684:p.Arg204*	HNSCC(72;0.22)					p.R204*	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1476	+			204						Nonsense_Mutation	SNP	ENST00000280684.3	37	c.610C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	42	9.218473	0.99105	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	.	.	.	5.12	5.12	0.69794	.	0.000000	0.34178	U	0.004195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.9291	0.63983	0.0:1.0:0.0:0.0	.	.	.	.	X	204	.	ENSP00000280684:R204X	R	+	1	2	KCNA6	4790078	.	.	0.994000	0.49952	0.172000	0.22775	.	.	2.664000	0.90586	0.655000	0.94253	CGA		0.542	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		11	60	0	0	0	0	11	60				
KCNA1	3736	broad.mit.edu	37	12	5020755	5020755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:5020755C>T	ENST00000382545.3	+	2	1318	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	71					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.R71C(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GAAACGCATGCGCTACTTCGA	0.632																																						uc001qnh.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(211-213)CGC>TGC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	65.0	65.0					12																	5020755		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020755C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.211C>T	12.37:g.5020755C>T	ENSP00000371985:p.Arg71Cys						p.R71C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1316	+			71					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.211C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319702	0.60524	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.77358	-1.09	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.88310	2.945	0.80722	D	1	D	0.65815	0.995	P	0.59948	0.866	D	0.90994	0.4837	10	0.87932	D	0	.	16.3898	0.83531	0.0:1.0:0.0:0.0	.	71	Q09470	KCNA1_HUMAN	C	71	ENSP00000371985:R71C	ENSP00000228858:R71C	R	+	1	0	KCNA1	4891016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.003000	0.49505	2.410000	0.81850	0.650000	0.86243	CGC		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		27	105	0	0	0	0	27	105				
USP5	8078	broad.mit.edu	37	12	6970649	6970649	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:6970649A>G	ENST00000229268.8	+	13	1593	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.E514G	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	514	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAAGCCGAAGAGGAGAAGATG	0.597																																						uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(1540-1542)GAG>GGG		ubiquitin specific peptidase 5 isoform 1							70.0	70.0	70.0					12																	6970649		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970649A>G	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1541A>G	12.37:g.6970649A>G	ENSP00000229268:p.Glu514Gly					USP5_uc001qrh.3_Missense_Mutation_p.E514G	p.E514G	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			13	1600	+			514					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1541A>G	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	a	12.35	1.910653	0.33721	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.25085	1.82;1.82	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.444177	0.26820	N	0.022338	T	0.15089	0.0364	N	0.10874	0.06	0.40273	D	0.978301	B;B	0.31383	0.24;0.321	B;B	0.36766	0.232;0.098	T	0.19289	-1.0310	10	0.24483	T	0.36	.	9.6621	0.39960	0.9225:0.0:0.0775:0.0	.	514;514	P45974;P45974-2	UBP5_HUMAN;.	G	514	ENSP00000229268:E514G;ENSP00000373883:E514G	ENSP00000229268:E514G	E	+	2	0	USP5	6840910	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.275000	0.51639	2.177000	0.69029	0.454000	0.30748	GAG		0.597	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			20	94	0	0	0	0	20	94				
OR8S1	341568	broad.mit.edu	37	12	48921776	48921776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:48921776G>A	ENST00000310194.1	+	2	970	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGCCTTCACCGAAGGCCGCAG	0.647																																						uc010slu.1		NA																	0				skin(1)	1						c.(970-972)GAA>AAA		olfactory receptor, family 8, subfamily S,							25.0	28.0	27.0					12																	48921776		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921776G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.970G>A	12.37:g.48921776G>A	ENSP00000310632:p.Glu324Lys						p.E324K	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			2	970	+			324			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.970G>A	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865700	0.17250	.	.	ENSG00000197376	ENST00000310194	T	0.03635	3.86	0.158	0.158	0.14942	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.39617	0.305	T	0.49579	-0.8925	8	0.30078	T	0.28	.	.	.	.	.	324	Q8NH09	OR8S1_HUMAN	K	324	ENSP00000310632:E324K	ENSP00000310632:E324K	E	+	1	0	OR8S1	47208043	0.073000	0.21202	0.023000	0.16930	0.024000	0.10985	0.872000	0.28037	0.202000	0.20498	0.205000	0.17691	GAA		0.647	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			18	27	0	0	0	0	18	27				
USP15	9958	broad.mit.edu	37	12	62749159	62749159	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:62749159A>G	ENST00000280377.5	+	8	876	c.818A>G	c.(817-819)aAc>aGc	p.N273S	USP15_ENST00000393654.3_Missense_Mutation_p.N248S|USP15_ENST00000353364.3_Missense_Mutation_p.N244S|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	273					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTTATAAGAACTATGATTAT	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(817-819)AAC>AGC		ubiquitin specific peptidase 15							84.0	81.0	82.0					12																	62749159		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749159A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.818A>G	12.37:g.62749159A>G	ENSP00000280377:p.Asn273Ser					USP15_uc001srb.1_Missense_Mutation_p.N244S	p.N273S	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	827	+			273					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.818A>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	9.525	1.109428	0.20714	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19105	2.17;2.2;2.18	5.45	3.08	0.35506	.	0.263217	0.42294	N	0.000721	T	0.06962	0.0177	N	0.01464	-0.85	0.44234	D	0.997072	B;B	0.24920	0.07;0.114	B;B	0.25759	0.028;0.063	T	0.27773	-1.0064	9	.	.	.	-5.8243	9.5279	0.39175	0.8561:0.0:0.1439:0.0	.	273;244	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	244;273;248	ENSP00000258123:N244S;ENSP00000280377:N273S;ENSP00000377264:N248S	.	N	+	2	0	USP15	61035426	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.542000	0.60677	0.373000	0.24621	0.455000	0.32223	AAC		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	31	0	0	0	0	7	31				
EPYC	1833	broad.mit.edu	37	12	91366624	91366624	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:91366624G>C	ENST00000261172.3	-	4	566	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	158					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CATTTTTGTTGATCTTTTTAA	0.388																																						uc001tbk.2		NA																	0				skin(1)	1						c.(472-474)ATC>ATG		dermatan sulfate proteoglycan 3 precursor							125.0	130.0	129.0					12																	91366624		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91366624G>C	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.474C>G	12.37:g.91366624G>C	ENSP00000261172:p.Ile158Met						p.I158M	NM_004950	NP_004941	Q99645	EPYC_HUMAN			4	567	-			158			LRR 1.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.474C>G	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593745	0.66219	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.65178	-0.14;-0.14	5.98	5.1	0.69264	.	0.089410	0.85682	D	0.000000	D	0.82637	0.5080	M	0.91300	3.195	0.54753	D	0.999989	D	0.76494	0.999	D	0.74348	0.983	D	0.86855	0.2026	10	0.87932	D	0	.	14.5364	0.67963	0.0:0.0:0.6236:0.3764	.	158	Q99645	EPYC_HUMAN	M	158	ENSP00000261172:I158M;ENSP00000448272:I158M	ENSP00000261172:I158M	I	-	3	3	EPYC	89890755	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.396000	0.59684	1.554000	0.49487	-0.122000	0.15005	ATC		0.388	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		6	110	0	0	0	0	6	110				
TRPV4	59341	broad.mit.edu	37	12	110246181	110246181	+	Missense_Mutation	SNP	C	C	T	rs139300843		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:110246181C>T	ENST00000418703.2	-	2	573	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	TRPV4_ENST00000537083.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000392719.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000541794.1_Missense_Mutation_p.R160Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R126Q|TRPV4_ENST00000346520.2_Missense_Mutation_p.R160Q|TRPV4_ENST00000544971.1_Missense_Mutation_p.R160Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	160					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGTGGAGCCCCGGGACACGAT	0.612																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(478-480)CGG>CAG		transient receptor potential cation channel,		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	67.0	59.0	62.0		479,377,479,479,479	3.7	1.0	12	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	160/825,126/838,160/765,160/872,160/812	110246181	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246181C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.479G>A	12.37:g.110246181C>T	ENSP00000406191:p.Arg160Gln					TRPV4_uc001tpg.1_Missense_Mutation_p.R126Q|TRPV4_uc001tph.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpi.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpk.1_Missense_Mutation_p.R160Q|TRPV4_uc001tpl.1_Missense_Mutation_p.R160Q	p.R160Q	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			2	574	-			160			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.479G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.865149	0.51482	0.0	1.16E-4	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90261	-2.51;-2.51;-2.46;-2.64;-2.47;-2.64;-2.46;-2.49	3.66	3.66	0.41972	.	0.279314	0.35585	N	0.003101	D	0.92004	0.7467	L	0.49640	1.575	0.35251	D	0.778748	P;D;D;B;P	0.89917	0.944;0.978;1.0;0.14;0.607	B;B;D;B;B	0.80764	0.245;0.28;0.994;0.04;0.083	D	0.90391	0.4395	10	0.07990	T	0.79	-14.1429	14.3978	0.67022	0.0:1.0:0.0:0.0	.	160;160;160;160;126	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	Q	160;160;160;160;160;160;160;126	ENSP00000406191:R160Q;ENSP00000261740:R160Q;ENSP00000376480:R160Q;ENSP00000319003:R160Q;ENSP00000443611:R160Q;ENSP00000442738:R160Q;ENSP00000442167:R160Q;ENSP00000444336:R126Q	ENSP00000261740:R160Q	R	-	2	0	TRPV4	108730564	0.301000	0.24444	1.000000	0.80357	0.944000	0.59088	0.850000	0.27737	1.780000	0.52325	0.459000	0.35465	CGG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		13	36	0	0	0	0	13	36				
RPH3A	22895	broad.mit.edu	37	12	113307581	113307581	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr12:113307581A>G	ENST00000389385.4	+	9	1125	c.628A>G	c.(628-630)Agg>Ggg	p.R210G	RPH3A_ENST00000543106.2_Missense_Mutation_p.R210G|RPH3A_ENST00000551052.1_Missense_Mutation_p.R206G|RPH3A_ENST00000415485.3_Missense_Mutation_p.R210G|RPH3A_ENST00000548866.1_Missense_Mutation_p.R161G|RPH3A_ENST00000447659.2_Missense_Mutation_p.R161G|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R210G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	210	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGATAGGAGGGGCCCGGG	0.463																																						uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(628-630)AGG>GGG		rabphilin 3A homolog isoform 1							115.0	122.0	119.0					12																	113307581		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307581A>G	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.628A>G	12.37:g.113307581A>G	ENSP00000374036:p.Arg210Gly					RPH3A_uc001ttz.2_Missense_Mutation_p.R210G|RPH3A_uc001tty.2_Missense_Mutation_p.R206G|RPH3A_uc009zwe.1_Missense_Mutation_p.R206G|RPH3A_uc010sym.1_Missense_Mutation_p.R161G|RPH3A_uc001tua.2_5'UTR	p.R210G	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	9	990	+			210			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.628A>G	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408988	0.25378	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61392	0.12;0.12;0.11;0.12;0.12;0.11;0.12	4.74	4.74	0.60224	.	0.765819	0.11710	N	0.536990	T	0.42944	0.1225	N	0.22421	0.69	0.24874	N	0.99226	B;B;B;B	0.11235	0.004;0.002;0.002;0.004	B;B;B;B	0.16289	0.006;0.006;0.006;0.015	T	0.19289	-1.0310	10	0.23302	T	0.38	.	10.8249	0.46627	1.0:0.0:0.0:0.0	.	161;210;210;206	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	G	210;210;161;206;210;161;210	ENSP00000440384:R210G;ENSP00000374036:R210G;ENSP00000413254:R161G;ENSP00000448297:R206G;ENSP00000405357:R210G;ENSP00000450347:R161G;ENSP00000408889:R210G	ENSP00000374036:R210G	R	+	1	2	RPH3A	111791964	1.000000	0.71417	0.998000	0.56505	0.385000	0.30292	4.167000	0.58209	2.136000	0.66102	0.533000	0.62120	AGG		0.463	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	139	0	0	0	0	3	139				
PCNX	22990	broad.mit.edu	37	14	71444809	71444809	+	Silent	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:71444809T>A	ENST00000304743.2	+	6	2201	c.1755T>A	c.(1753-1755)ggT>ggA	p.G585G	PCNX_ENST00000439984.3_Silent_p.G585G|PCNX_ENST00000238570.5_Silent_p.G585G	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	585						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTTTCGAGGTGTTTCTGGTA	0.483																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(1753-1755)GGT>GGA		pecanex-like 1							114.0	108.0	110.0					14																	71444809		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71444809T>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1755T>A	14.37:g.71444809T>A						PCNX_uc001xmn.3_Silent_p.G585G|PCNX_uc010are.1_Silent_p.G585G	p.G585G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2201	+			585					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.1755T>A	CCDS9806.1																																																																																				0.483	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		15	99	0	0	0	0	15	99				
DCAF4	26094	broad.mit.edu	37	14	73422322	73422322	+	Missense_Mutation	SNP	G	G	A	rs141315052	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:73422322G>A	ENST00000358377.2	+	12	1317	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	DCAF4_ENST00000553457.1_Missense_Mutation_p.R266H|DCAF4_ENST00000509153.1_Missense_Mutation_p.R306H|DCAF4_ENST00000394234.2_Missense_Mutation_p.R266H|DCAF4_ENST00000555042.1_Missense_Mutation_p.R360H|DCAF4_ENST00000353777.3_Missense_Mutation_p.R196H	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	366					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AAGGCCACCCGCCTGTTTCAT	0.517																																						uc001xng.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1096-1098)CGC>CAC		DDB1 and CUL4 associated factor 4 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	220.0	205.0	210.0		1079,1034,1097,797,917	1.8	0.0	14	dbSNP_134	210	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	DCAF4	NM_001163508.1,NM_001163509.1,NM_015604.3,NM_181340.2,NM_181341.2	29,29,29,29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign	360/490,345/475,366/496,266/396,306/436	73422322	3,13003	2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73422322G>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1097G>A	14.37:g.73422322G>A	ENSP00000351147:p.Arg366His					DCAF4_uc001xnj.2_Missense_Mutation_p.R360H|DCAF4_uc010ttr.1_Missense_Mutation_p.R345H|DCAF4_uc001xnh.2_Missense_Mutation_p.R266H|DCAF4_uc010tts.1_Missense_Mutation_p.R306H|DCAF4_uc010ttt.1_Missense_Mutation_p.R152H|DCAF4_uc001xni.2_Missense_Mutation_p.R196H|DCAF4_uc001xnk.2_Missense_Mutation_p.R366H	p.R366H	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			12	1317	+			366					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.1097G>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	9.420	1.082786	0.20309	2.27E-4	2.33E-4	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.64	1.79	0.24919	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.552901	0.22855	N	0.054810	T	0.09555	0.0235	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B	0.30482	0.026;0.014;0.011;0.011;0.281;0.014	B;B;B;B;B;B	0.24541	0.014;0.021;0.009;0.009;0.054;0.011	T	0.28299	-1.0048	10	0.18710	T	0.47	.	3.4276	0.07416	0.138:0.2495:0.4836:0.1289	.	306;345;366;360;196;366	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	H	366;196;266;306;360;266	ENSP00000351147:R366H;ENSP00000345176:R196H;ENSP00000377781:R266H;ENSP00000426178:R306H;ENSP00000452131:R360H;ENSP00000451186:R266H	ENSP00000345176:R196H	R	+	2	0	DCAF4	72492075	0.985000	0.35326	0.000000	0.03702	0.426000	0.31534	2.657000	0.46724	0.060000	0.16281	-0.254000	0.11334	CGC		0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		42	238	0	0	0	0	42	238				
TMEM63C	57156	broad.mit.edu	37	14	77722968	77722968	+	Missense_Mutation	SNP	G	G	C	rs376169418		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:77722968G>C	ENST00000298351.4	+	24	2464	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	774					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCAGCCGGAAGAGGGAGAAGA	0.607																																						uc001xtf.2		NA																	0					0						c.(2320-2322)GAG>CAG		transmembrane protein 63C							151.0	164.0	160.0					14																	77722968		2013	4165	6178	SO:0001583	missense	57156					integral to membrane		g.chr14:77722968G>C		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2320G>C	14.37:g.77722968G>C	ENSP00000298351:p.Glu774Gln					TMEM63C_uc010asq.1_Missense_Mutation_p.E774Q	p.E774Q	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	24	2532	+			774					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.2320G>C	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.667889	0.29604	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.17854	2.25	4.84	4.84	0.62591	.	0.302177	0.35646	N	0.003074	T	0.25568	0.0622	L	0.57536	1.79	0.34433	D	0.69877	P	0.46578	0.88	P	0.49829	0.623	T	0.22068	-1.0227	10	0.12766	T	0.61	-5.7059	15.7507	0.77983	0.0:0.0:1.0:0.0	.	774	Q9P1W3	TM63C_HUMAN	Q	774;344	ENSP00000298351:E774Q	ENSP00000298351:E774Q	E	+	1	0	TMEM63C	76792721	1.000000	0.71417	0.998000	0.56505	0.229000	0.25112	5.917000	0.69989	2.232000	0.73038	0.655000	0.94253	GAG		0.607	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			60	131	0	0	0	0	60	131				
BTBD7	55727	broad.mit.edu	37	14	93723663	93723663	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:93723663T>G	ENST00000334746.5	-	6	1793	c.1486A>C	c.(1486-1488)Aaa>Caa	p.K496Q	BTBD7_ENST00000554565.1_Missense_Mutation_p.K145Q|BTBD7_ENST00000393170.2_Missense_Mutation_p.K70Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	496					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACACCTCTTTTGTTCACACTA	0.408																																						uc001ybo.2		NA																	0				pancreas(1)	1						c.(1486-1488)AAA>CAA		BTB (POZ) domain containing 7 isoform 1							168.0	153.0	158.0					14																	93723663		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93723663T>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1486A>C	14.37:g.93723663T>G	ENSP00000335615:p.Lys496Gln					BTBD7_uc010aur.2_Missense_Mutation_p.K21Q|BTBD7_uc010two.1_Missense_Mutation_p.K316Q|BTBD7_uc001ybp.2_Missense_Mutation_p.K145Q|BTBD7_uc001ybq.3_Missense_Mutation_p.K411Q	p.K496Q	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	6	1812	-		all_cancers(154;0.08)	496					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1486A>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031466	0.93575	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.52754	1.07;0.65	5.64	5.64	0.86602	BTB/Kelch-associated (1);	0.041485	0.85682	D	0.000000	T	0.66036	0.2749	L	0.56769	1.78	0.80722	D	1	P;D;D	0.89917	0.943;1.0;0.999	B;D;D	0.85130	0.422;0.997;0.994	T	0.68161	-0.5482	10	0.66056	D	0.02	.	16.1564	0.81670	0.0:0.0:0.0:1.0	.	70;145;496	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	Q	496;145;111;70	ENSP00000335615:K496Q;ENSP00000451010:K145Q	ENSP00000335615:K496Q	K	-	1	0	BTBD7	92793416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.274000	0.75844	0.528000	0.53228	AAA		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		8	83	0	0	0	0	8	83				
DICER1	23405	broad.mit.edu	37	14	95571506	95571506	+	Silent	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr14:95571506T>A	ENST00000526495.1	-	22	3462	c.3171A>T	c.(3169-3171)atA>atT	p.I1057I	DICER1_ENST00000393063.1_Silent_p.I1057I|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000527414.1_Silent_p.I1057I|DICER1_ENST00000541352.1_Silent_p.I1057I|DICER1_ENST00000343455.3_Silent_p.I1057I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1057					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCGATAAAGTATGCTGGGGA	0.488			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3169-3171)ATA>ATT		dicer1							152.0	153.0	153.0					14																	95571506		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571506T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3171A>T	14.37:g.95571506T>A						DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_Silent_p.I1047I|DICER1_uc001ydx.2_Silent_p.I1057I|DICER1_uc001ydy.1_5'Flank	p.I1057I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	21	3353	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1057					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3171A>T	CCDS9931.1																																																																																				0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			28	169	0	0	0	0	28	169				
MYEF2	50804	broad.mit.edu	37	15	48446066	48446066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr15:48446066C>A	ENST00000324324.7	-	10	1289	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	MYEF2_ENST00000267836.6_Missense_Mutation_p.G337V	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	337	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGGACCAAGTCCCATCCCAAT	0.388																																						uc001zwi.3		NA																	0				lung(2)|ovary(1)	3						c.(1009-1011)GGA>GTA		myelin expression factor 2							71.0	66.0	67.0					15																	48446066		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48446066C>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1010G>T	15.37:g.48446066C>A	ENSP00000316950:p.Gly337Val					MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Missense_Mutation_p.G337V|MYEF2_uc001zwl.2_Missense_Mutation_p.G177V	p.G337V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	10	1134	-		all_lung(180;0.00217)	337			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1010G>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152808	0.94645	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.29917	2.1;1.55	5.97	5.97	0.96955	.	0.093530	0.64402	D	0.000001	T	0.57975	0.2090	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.97110	1.0;0.647	T	0.56866	-0.7908	10	0.87932	D	0	-11.7251	20.4324	0.99085	0.0:1.0:0.0:0.0	.	337;337	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	V	337	ENSP00000316950:G337V;ENSP00000267836:G337V	ENSP00000267836:G337V	G	-	2	0	MYEF2	46233358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.833000	0.97629	0.585000	0.79938	GGA		0.388	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		8	23	1	0	0.000274275	0.00117641	8	23				
LAT	27040	broad.mit.edu	37	16	28997738	28997738	+	Missense_Mutation	SNP	C	C	T	rs373283173	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:28997738C>T	ENST00000360872.5	+	5	359	c.281C>T	c.(280-282)aCg>aTg	p.T94M	LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.T93M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.T130M|LAT_ENST00000354453.4_Intron|LAT_ENST00000395456.2_Missense_Mutation_p.T94M|LAT_ENST00000564277.1_Missense_Mutation_p.T93M|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.T93M			O43561	LAT_HUMAN	linker for activation of T cells	94					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TCCCACCGGACGCCATCTTCC	0.627													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13707	0.0		0.0	False		,,,				2504	0.001					uc002dsd.2		NA																	0					0						c.(280-282)ACG>ATG		linker for activation of T cells isoform a		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4390		0,0,2195	37.0	46.0	43.0		281,278,389,281	1.1	1.0	16		43	1,8591		0,1,4295	no	missense,missense,missense,missense	LAT	NM_001014987.1,NM_001014988.1,NM_001014989.1,NM_014387.3	81,81,81,81	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	,,,	94/234,93/233,130/270,94/263	28997738	1,12981	2195	4296	6491	SO:0001583	missense	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997738C>T	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.281C>T	16.37:g.28997738C>T	ENSP00000354119:p.Thr94Met					uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.T130M|LAT_uc002dsb.2_Missense_Mutation_p.T94M|LAT_uc002dsc.2_Missense_Mutation_p.T93M|LAT_uc010vdk.1_Missense_Mutation_p.T94M|LAT_uc010vdl.1_Missense_Mutation_p.T93M	p.T94M	NM_014387	NP_055202	O43561	LAT_HUMAN			5	633	+		Hepatocellular(780;0.244)	94			Cytoplasmic (Potential).		B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.281C>T	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612894	0.14066	0.0	1.16E-4	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872	.	.	.	4.85	1.1	0.20463	.	.	.	.	.	T	0.13713	0.0332	N	0.01168	-0.975	0.52501	D	0.999953	B;B;B;B;B	0.17667	0.023;0.0;0.0;0.023;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.0;0.004;0.0	T	0.32455	-0.9906	8	0.02654	T	1	-9.6927	6.2031	0.20587	0.0:0.3187:0.0:0.6813	.	93;94;130;94;93	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	M	130;94;93;94	.	ENSP00000354119:T94M	T	+	2	0	LAT	28905239	0.151000	0.22747	0.979000	0.43373	0.364000	0.29643	0.124000	0.15728	0.303000	0.22785	-0.672000	0.03802	ACG		0.627	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			22	89	0	0	0	0	22	89				
CDH1	999	broad.mit.edu	37	16	68853324	68853324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:68853324C>A	ENST00000261769.5	+	11	1898	c.1707C>A	c.(1705-1707)gaC>gaA	p.D569E	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.D508E|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	569	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TAGCTACAGACAATGGTAAGG	0.522			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		1	Unknown(1)		breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1705-1707)GAC>GAA		cadherin 1, type 1 preproprotein							82.0	68.0	73.0					16																	68853324		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68853324C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1707C>A	16.37:g.68853324C>A	ENSP00000261769:p.Asp569Glu					CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.D508E	p.D569E	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	11	1831	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	569			Extracellular (Potential).|Cadherin 4.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1707C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876716	0.33162	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.80304	-1.36;-1.36	5.55	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000062	D	0.87059	0.6083	M	0.85041	2.73	0.39736	D	0.971684	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.84474	0.0601	10	0.20519	T	0.43	.	11.2471	0.49004	0.0:0.412:0.0:0.588	.	508;569	Q9UII8;P12830	.;CADH1_HUMAN	E	569;587;569;508	ENSP00000261769:D569E;ENSP00000414946:D508E	ENSP00000261769:D569E	D	+	3	2	CDH1	67410825	0.000000	0.05858	0.012000	0.15200	0.022000	0.10575	-0.607000	0.05648	-0.154000	0.11118	-0.263000	0.10527	GAC		0.522	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		11	32	1	0	5.51e-06	2.44e-05	11	32				
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	C	rs142081193	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:84229512G>C	ENST00000315906.5	+	7	1196	c.1144G>C	c.(1144-1146)Gtg>Ctg	p.V382L	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V464L	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716																																						uc002fhr.2		NA																	0					0						c.(1144-1146)GTG>CTG		adenosine deaminase domain containing 2 isoform							22.0	26.0	24.0					16																	84229512		2198	4298	6496	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229512G>C	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1144G>C	16.37:g.84229512G>C	ENSP00000325153:p.Val382Leu					ADAD2_uc002fhq.2_Missense_Mutation_p.V464L|uc002fhs.1_Intron	p.V382L	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN			7	1258	+			382			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1144G>C	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	7.469	0.646343	0.14451	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94000	-3.33;-3.33	5.49	-2.27	0.06846	Adenosine deaminase/editase (2);	0.653207	0.14249	N	0.331597	D	0.83658	0.5302	N	0.22421	0.69	0.31244	N	0.694845	B;B	0.15473	0.006;0.013	B;B	0.15052	0.012;0.012	T	0.71487	-0.4578	10	0.08599	T	0.76	-14.3004	9.5447	0.39273	0.1738:0.6193:0.2068:0.0	.	382;464	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	L	382;464	ENSP00000325153:V382L;ENSP00000268624:V464L	ENSP00000268624:V464L	V	+	1	0	ADAD2	82787013	0.006000	0.16342	0.724000	0.30704	0.475000	0.33008	0.019000	0.13444	-0.237000	0.09739	0.561000	0.74099	GTG		0.716	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		5	32	0	0	0	0	5	32				
GAS8	2622	broad.mit.edu	37	16	90103725	90103725	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr16:90103725A>C	ENST00000268699.4	+	7	964	c.842A>C	c.(841-843)gAc>gCc	p.D281A	GAS8_ENST00000536122.1_Missense_Mutation_p.D256A|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	281					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGCCTGGCAGACCCTCTCCAG	0.582																																						uc002fqi.1		NA																	0				ovary(1)	1						c.(841-843)GAC>GCC		growth arrest-specific 8							65.0	63.0	64.0					16																	90103725		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103725A>C	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.842A>C	16.37:g.90103725A>C	ENSP00000268699:p.Asp281Ala					GAS8_uc010vps.1_Missense_Mutation_p.D256A|GAS8_uc002fqh.2_Missense_Mutation_p.D198A|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.D252A|GAS8_uc010cjc.1_Missense_Mutation_p.D198A|GAS8_uc010vpw.1_Missense_Mutation_p.D198A|GAS8_uc002fqj.1_Missense_Mutation_p.D89A	p.D281A	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	964	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	281			Potential.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.842A>C	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547184	0.27652	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.40476	1.03;1.03	5.49	5.49	0.81192	.	0.491291	0.24766	N	0.035775	T	0.32823	0.0842	N	0.20881	0.62	0.37741	D	0.92561	B;B	0.28584	0.109;0.216	B;B	0.33254	0.111;0.16	T	0.23297	-1.0192	9	.	.	.	-23.0842	15.5766	0.76397	1.0:0.0:0.0:0.0	.	252;281	B7Z1X3;O95995	.;GAS8_HUMAN	A	256;281;252	ENSP00000440977:D256A;ENSP00000268699:D281A	.	D	+	2	0	GAS8	88631226	1.000000	0.71417	0.084000	0.20598	0.157000	0.22087	8.537000	0.90631	2.084000	0.62774	0.460000	0.39030	GAC		0.582	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			14	31	0	0	0	0	14	31				
PIK3R5	23533	broad.mit.edu	37	17	8793324	8793324	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:8793324C>T	ENST00000447110.1	-	8	901	c.777G>A	c.(775-777)gcG>gcA	p.A259A	PIK3R5_ENST00000584803.1_Silent_p.A259A|PIK3R5_ENST00000581552.1_Silent_p.A259A	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	259				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTTCTCCCACCGCCTGCAGCT	0.607																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(775-777)GCG>GCA		phosphoinositide-3-kinase, regulatory subunit 5							57.0	56.0	56.0					17																	8793324		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8793324C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.777G>A	17.37:g.8793324C>T						PIK3R5_uc010vuz.1_Silent_p.A259A|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR	p.A259A	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			8	844	-			259	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.777G>A	CCDS11147.1																																																																																				0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		20	46	0	0	0	0	20	46				
MYO9B	4650	broad.mit.edu	37	19	17322582	17322582	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:17322582A>T	ENST00000595618.1	+	39	6209	c.6057A>T	c.(6055-6057)gaA>gaT	p.E2019D	MYO9B_ENST00000594824.1_Splice_Site_p.E2019D|MYO9B_ENST00000397274.2_Missense_Mutation_p.E2019D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2019	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGCCTCGGAAGGTCAGTATT	0.677																																						uc010eak.2		NA																	0				breast(1)	1						c.(6055-6057)GAA>GAT		myosin IXB isoform 1							29.0	42.0	38.0					19																	17322582		1895	4101	5996	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322582A>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000595618.1:c.6057A>T	19.37:g.17322582A>T	ENSP00000471457:p.Glu2019Asp					MYO9B_uc002nfi.2_Missense_Mutation_p.E2019D|MYO9B_uc002nfm.1_Missense_Mutation_p.E179D	p.E2019D	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			39	6209	+			2019			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000595618.1	37	c.6057A>T	CCDS46010.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966452	0.74131	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.86230	-2.09	4.93	4.93	0.64822	.	0.165848	0.29355	N	0.012391	D	0.91389	0.7283	L	0.59436	1.845	0.37818	D	0.928276	D;D	0.65815	0.994;0.995	D;D	0.72625	0.97;0.978	D	0.92575	0.6069	10	0.49607	T	0.09	.	13.7657	0.62992	1.0:0.0:0.0:0.0	.	2019;2025	Q13459;Q4LE74	MYO9B_HUMAN;.	D	2019;364	ENSP00000380444:E2019D	ENSP00000314032:E364D	E	+	3	2	MYO9B	17183582	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	3.367000	0.52350	1.869000	0.54173	0.533000	0.62120	GAA		0.677	MYO9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463235.1			11	50	0	0	0	0	11	50				
ZNF675	171392	broad.mit.edu	37	19	23844924	23844924	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:23844924T>G	ENST00000359788.4	-	3	386	c.218A>C	c.(217-219)gAa>gCa	p.E73A	ZNF675_ENST00000600313.1_Missense_Mutation_p.E73A|ZNF675_ENST00000599168.1_Missense_Mutation_p.E73A|ZNF675_ENST00000596211.1_Missense_Mutation_p.E73A|ZNF675_ENST00000601010.1_Missense_Mutation_p.E73A|ZNF675_ENST00000601935.1_Missense_Mutation_p.E73A	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTGGGGGTTCATTCACCAT	0.418																																						uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(217-219)GAA>GCA		zinc finger protein 675							131.0	132.0	131.0					19																	23844924		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23844924T>G		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.218A>C	19.37:g.23844924T>G	ENSP00000352836:p.Glu73Ala						p.E73A	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			3	400	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	73			KRAB.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.218A>C	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.309	0.242307	0.10077	.	.	ENSG00000197372	ENST00000359788	T	0.07021	3.23	0.225	0.225	0.15325	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.44174	-0.9345	8	0.32370	T	0.25	.	.	.	.	.	73	Q8TD23	ZN675_HUMAN	A	73	ENSP00000352836:E73A	ENSP00000352836:E73A	E	-	2	0	ZNF675	23636764	0.000000	0.05858	0.060000	0.19600	0.061000	0.15899	-0.576000	0.05854	0.257000	0.21650	0.254000	0.18369	GAA		0.418	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		28	98	0	0	0	0	28	98				
TMEM147	10430	broad.mit.edu	37	19	36037696	36037696	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36037696G>A	ENST00000222284.5	+	4	475	c.330G>A	c.(328-330)gaG>gaA	p.E110E	TMEM147_ENST00000392204.2_Silent_p.E61E|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Silent_p.E110E|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	110						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCACTGCTGAGCTTATTATGT	0.602																																						uc002oaj.1		NA																	0					0						c.(328-330)GAG>GAA		transmembrane protein 147							69.0	63.0	65.0					19																	36037696		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037696G>A	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.330G>A	19.37:g.36037696G>A						uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.E61E|TMEM147_uc002oak.1_Missense_Mutation_p.S20N	p.E110E	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	427	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		110			Helical; (Potential).		A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.330G>A	CCDS12466.1																																																																																				0.602	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		7	73	0	0	0	0	7	73				
APLP1	333	broad.mit.edu	37	19	36365411	36365411	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:36365411C>A	ENST00000221891.4	+	9	1254	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.F348L|APLP1_ENST00000537454.2_Missense_Mutation_p.F315L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGCACTTCCAGTCCATTC	0.617																																						uc002oce.2		NA																	0				ovary(2)	2						c.(1060-1062)TTC>TTA		amyloid precursor-like protein 1 isoform 2							79.0	86.0	84.0					19																	36365411		2203	4299	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365411C>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1062C>A	19.37:g.36365411C>A	ENSP00000221891:p.Phe354Leu					APLP1_uc010xsz.1_Missense_Mutation_p.F315L|APLP1_uc002ocf.2_Missense_Mutation_p.F354L|APLP1_uc002ocg.2_Missense_Mutation_p.F257L|APLP1_uc010xta.1_Missense_Mutation_p.F348L	p.F354L	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1200	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		354			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1062C>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645155	0.87859	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.63255	-0.03;-0.03	4.51	3.47	0.39725	Amyloidogenic glycoprotein, E2 domain (2);	0.332023	0.23455	N	0.047988	T	0.76723	0.4027	M	0.81112	2.525	0.80722	D	1	P;D;D;D	0.71674	0.827;0.998;0.992;0.994	B;D;P;P	0.68943	0.424;0.961;0.747;0.836	T	0.78193	-0.2299	10	0.87932	D	0	-3.6422	10.283	0.43552	0.0:0.901:0.0:0.099	.	348;315;354;354	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	L	315;354	ENSP00000441501:F315L;ENSP00000221891:F354L	ENSP00000221891:F354L	F	+	3	2	APLP1	41057251	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.333000	0.59285	0.888000	0.36160	0.555000	0.69702	TTC		0.617	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		52	129	1	0	3.51e-19	1.65e-18	52	129				
LTBP4	8425	broad.mit.edu	37	19	41129882	41129882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:41129882G>A	ENST00000308370.7	+	30	3925	c.3925G>A	c.(3925-3927)Ggc>Agc	p.G1309S	LTBP4_ENST00000204005.9_Missense_Mutation_p.G1272S|LTBP4_ENST00000545697.1_Missense_Mutation_p.G677S|LTBP4_ENST00000396819.3_Missense_Mutation_p.G1242S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1310	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGGGCGGCCGCTGTGT	0.602																																						uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.(3928-3930)GGC>AGC		latent transforming growth factor beta binding							33.0	40.0	38.0					19																	41129882		2028	4179	6207	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129882G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3925G>A	19.37:g.41129882G>A	ENSP00000311905:p.Gly1309Ser					LTBP4_uc002oog.1_Missense_Mutation_p.G1273S|LTBP4_uc002ooi.1_Missense_Mutation_p.G1243S|LTBP4_uc002ooj.1_Missense_Mutation_p.G183S|LTBP4_uc002ook.1_Missense_Mutation_p.G444S|LTBP4_uc002ool.1_Missense_Mutation_p.G322S|LTBP4_uc010xvp.1_Missense_Mutation_p.G70S	p.G1310S	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	3928	+			1310			EGF-like 14; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3928G>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.958684	0.92726	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.41	4.41	0.53225	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39759	N	0.001278	T	0.48205	0.1487	.	.	.	0.58432	D	0.999999	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.916;0.992;0.978	D;D;D;B;P;P	0.91635	0.999;0.999;0.998;0.347;0.815;0.572	T	0.54255	-0.8321	9	0.72032	D	0.01	.	15.9091	0.79456	0.0:0.0:1.0:0.0	.	70;322;530;1242;1310;1272	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	S	1272;677;1309;1242;70	ENSP00000204005:G1272S;ENSP00000441054:G677S;ENSP00000311905:G1309S;ENSP00000380031:G1242S	ENSP00000204005:G1272S	G	+	1	0	LTBP4	45821722	1.000000	0.71417	0.992000	0.48379	0.625000	0.37756	9.036000	0.93758	2.294000	0.77228	0.462000	0.41574	GGC		0.602	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		9	32	0	0	0	0	9	32				
ZC3H4	23211	broad.mit.edu	37	19	47570690	47570690	+	Silent	SNP	G	G	A	rs201775448	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:47570690G>A	ENST00000253048.5	-	15	2872	c.2835C>T	c.(2833-2835)ccC>ccT	p.P945P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	945							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAGGGTGCCCGGGGAGTGGGT	0.677													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13276	0.0		0.0	False		,,,				2504	0.0					uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(2833-2835)CCC>CCT		zinc finger CCCH-type containing 4		G		1,4013		0,1,2006	85.0	100.0	96.0		2835	-10.3	0.3	19		96	0,8340		0,0,4170	no	coding-synonymous	ZC3H4	NM_015168.1		0,1,6176	AA,AG,GG		0.0,0.0249,0.0081		945/1304	47570690	1,12353	2007	4170	6177	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570690G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2835C>T	19.37:g.47570690G>A						ZC3H4_uc002pgb.1_Intron	p.P945P	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2873	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	945					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2835C>T	CCDS42582.1																																																																																				0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			37	185	0	0	0	0	37	185				
ZNF677	342926	broad.mit.edu	37	19	53740463	53740463	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr19:53740463T>G	ENST00000598513.1	-	5	1667	c.1517A>C	c.(1516-1518)aAg>aCg	p.K506T	ZNF677_ENST00000333952.4_Missense_Mutation_p.K506T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGGATTTTCTTATGCTGAGT	0.388																																						uc002qbf.1		NA																	0				ovary(1)	1						c.(1516-1518)AAG>ACG		zinc finger protein 677							96.0	93.0	94.0					19																	53740463		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740463T>G	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1517A>C	19.37:g.53740463T>G	ENSP00000469391:p.Lys506Thr					ZNF677_uc002qbg.1_Missense_Mutation_p.K506T	p.K506T	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1702	-			506			C2H2-type 9.			Missense_Mutation	SNP	ENST00000598513.1	37	c.1517A>C	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191240	0.21954	.	.	ENSG00000197928	ENST00000333952	T	0.51817	0.69	2.21	-0.885	0.10593	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.456909	0.16027	N	0.233050	T	0.48840	0.1522	L	0.49513	1.565	0.09310	N	0.999993	P	0.46395	0.877	P	0.54060	0.741	T	0.42464	-0.9450	10	0.66056	D	0.02	.	6.5196	0.22266	0.0:0.248:0.0:0.752	.	506	Q86XU0	ZN677_HUMAN	T	506	ENSP00000334394:K506T	ENSP00000334394:K506T	K	-	2	0	ZNF677	58432275	0.000000	0.05858	0.033000	0.17914	0.984000	0.73092	-0.088000	0.11198	-0.280000	0.09154	0.533000	0.62120	AAG		0.388	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		5	74	0	0	0	0	5	74				
TPO	7173	broad.mit.edu	37	2	1459959	1459959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1459959G>A	ENST00000345913.4	+	7	815	c.724G>A	c.(724-726)Gcg>Acg	p.A242T	TPO_ENST00000349624.3_Missense_Mutation_p.A242T|TPO_ENST00000382201.3_Missense_Mutation_p.A242T|TPO_ENST00000346956.3_Missense_Mutation_p.A242T|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A242T|TPO_ENST00000337415.3_Missense_Mutation_p.A242T|TPO_ENST00000382198.1_Missense_Mutation_p.A242T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	242					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACGACATCGCGTTCACACC	0.498																																						uc002qww.2		NA																	0		p.A242A(1)		ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(724-726)GCG>ACG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						110.0	84.0	93.0					2																	1459959		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459959G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.724G>A	2.37:g.1459959G>A	ENSP00000318820:p.Ala242Thr					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A242T|TPO_uc002qwr.2_Missense_Mutation_p.A242T|TPO_uc002qwx.2_Missense_Mutation_p.A242T|TPO_uc010yio.1_Missense_Mutation_p.A242T|TPO_uc010yip.1_Missense_Mutation_p.A242T	p.A242T	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	815	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	242			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.724G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	3.237	-0.156285	0.06544	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.04	5.04	0.67666	.	0.274649	0.40908	D	0.000981	T	0.56381	0.1981	N	0.22421	0.69	0.80722	D	1	B;D;P;B	0.55800	0.054;0.973;0.871;0.067	B;P;B;B	0.47075	0.02;0.536;0.144;0.034	T	0.52079	-0.8623	10	0.14656	T	0.56	-27.3015	15.1726	0.72888	0.0:0.0:0.8585:0.1415	.	242;242;242;242	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	T	242;242;242;242;242;242;242;171	ENSP00000337263:A242T;ENSP00000318820:A242T;ENSP00000263886:A242T;ENSP00000332044:A242T;ENSP00000329869:A242T;ENSP00000371636:A242T;ENSP00000371633:A242T;ENSP00000405788:A171T	ENSP00000329869:A242T	A	+	1	0	TPO	1438966	0.001000	0.12720	0.521000	0.27850	0.097000	0.18754	0.543000	0.23237	2.485000	0.83878	0.563000	0.77884	GCG		0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	58	0	0	0	0	7	58				
PXDN	7837	broad.mit.edu	37	2	1648500	1648500	+	Silent	SNP	G	G	A	rs565581245		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:1648500G>A	ENST00000252804.4	-	18	3683	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1211					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I1211I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498																																						uc002qxa.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	pancreas(6)|ovary(2)	8						c.(3631-3633)ATC>ATT		peroxidasin precursor							22.0	27.0	25.0					2																	1648500		1894	4123	6017	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1648500G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3633C>T	2.37:g.1648500G>A							p.I1211I	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	18	3697	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1211					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3633C>T	CCDS46221.1																																																																																				0.498	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		10	32	0	0	0	0	10	32				
LRRTM1	347730	broad.mit.edu	37	2	80530510	80530510	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:80530510C>T	ENST00000295057.3	-	2	1091	c.435G>A	c.(433-435)tcG>tcA	p.S145S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S145S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	145					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCTTGTTGTACGAGAGGTCCA	0.632										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(433-435)TCG>TCA		leucine rich repeat transmembrane neuronal 1							123.0	129.0	127.0					2																	80530510		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530510C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.435G>A	2.37:g.80530510C>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.S145S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	705	-			145			LRR 3.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.435G>A	CCDS1966.1																																																																																				0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	90	0	0	0	0	13	90				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.1		NA																	13	Substitution - Missense(13)		kidney(6)|endometrium(4)|prostate(3)		0						c.(2992-2994)ACA>TCA		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_RNA	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	37	0	0	0	0	5	37				
EIF5B	9669	broad.mit.edu	37	2	99980764	99980764	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:99980764A>C	ENST00000289371.6	+	6	1370	c.1168A>C	c.(1168-1170)Aaa>Caa	p.K390Q		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	390					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						aagagaaaggaaaaagcaaaa	0.328																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1168-1170)AAA>CAA		eukaryotic translation initiation factor 5B							61.0	64.0	63.0					2																	99980764		1804	4076	5880	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99980764A>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1168A>C	2.37:g.99980764A>C	ENSP00000289371:p.Lys390Gln						p.K390Q	NM_015904	NP_056988	O60841	IF2P_HUMAN			6	1352	+			390					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1168A>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613039	0.46631	.	.	ENSG00000158417	ENST00000289371	T	0.58210	0.35	5.6	4.45	0.53987	.	.	.	.	.	T	0.45736	0.1357	L	0.60957	1.885	0.53005	D	0.999963	B	0.34015	0.435	B	0.30029	0.11	T	0.34129	-0.9841	8	.	.	.	-15.5831	11.1986	0.48728	0.9272:0.0:0.0728:0.0	.	390	O60841	IF2P_HUMAN	Q	390	ENSP00000289371:K390Q	.	K	+	1	0	EIF5B	99347196	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	8.759000	0.91667	0.967000	0.38186	-0.263000	0.10527	AAA		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		11	104	0	0	0	0	11	104				
CCDC74A	90557	broad.mit.edu	37	2	132290462	132290462	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:132290462A>G	ENST00000295171.6	+	6	1040	c.902A>G	c.(901-903)gAa>gGa	p.E301G	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E235G|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	301										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCCTCCTGGAAGGGAGCCAG	0.692																																						uc002tta.2		NA																	0				skin(1)	1						c.(901-903)GAA>GGA		coiled-coil domain containing 74A							43.0	50.0	48.0					2																	132290462		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290462A>G		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.902A>G	2.37:g.132290462A>G	ENSP00000295171:p.Glu301Gly					CCDC74A_uc002ttb.2_Missense_Mutation_p.E235G	p.E301G	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			6	954	+			301					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.902A>G	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.76|12.76	2.034300|2.034300	0.35893|0.35893	.|.	.|.	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|T	0.34859|0.45668	1.34;1.34|0.89	2.66|2.66	2.66|2.66	0.31614|0.31614	.|.	0.197938|.	0.24318|.	U|.	0.039569|.	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P|.	0.50156|.	0.932;0.833|.	P;P|.	0.47827|.	0.558;0.556|.	T|T	0.48139|0.48139	-0.9061|-0.9061	10|7	0.72032|0.56958	D|D	0.01|0.05	.|.	7.2229|7.2229	0.25999|0.25999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	235;301|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	G|E	301;235|190	ENSP00000295171:E301G;ENSP00000387009:E235G|ENSP00000406839:K190E	ENSP00000295171:E301G|ENSP00000406839:K190E	E|K	+|+	2|1	0|0	CCDC74A|CCDC74A	132006932|132006932	0.996000|0.996000	0.38824|0.38824	0.980000|0.980000	0.43619|0.43619	0.175000|0.175000	0.22909|0.22909	4.180000|4.180000	0.58296|0.58296	0.982000|0.982000	0.38575|0.38575	0.163000|0.163000	0.16589|0.16589	GAA|AAG		0.692	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		13	56	0	0	0	0	13	56				
LRP1B	53353	broad.mit.edu	37	2	141260621	141260621	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:141260621A>G	ENST00000389484.3	-	54	9544	c.8573T>C	c.(8572-8574)cTt>cCt	p.L2858P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2858	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTATTTAGAAGACACCGCCC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8572-8574)CTT>CCT		low density lipoprotein-related protein 1B							152.0	140.0	144.0					2																	141260621		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141260621A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8573T>C	2.37:g.141260621A>G	ENSP00000374135:p.Leu2858Pro	TSP Lung(27;0.18)					p.L2858P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	54	9545	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2858			Extracellular (Potential).|LDL-receptor class A 19.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8573T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795312	0.90453	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96200	-3.94	5.91	5.91	0.95273	.	0.084638	0.49305	U	0.000150	D	0.97980	0.9335	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.98792	1.0736	10	0.72032	D	0.01	.	16.3607	0.83263	1.0:0.0:0.0:0.0	.	2858	Q9NZR2	LRP1B_HUMAN	P	2858;2796	ENSP00000374135:L2858P	ENSP00000374135:L2858P	L	-	2	0	LRP1B	140977091	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.230000	0.95299	2.273000	0.75805	0.523000	0.50628	CTT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	71	0	0	0	0	19	71				
UPP2	151531	broad.mit.edu	37	2	158991382	158991382	+	Missense_Mutation	SNP	C	C	T	rs560916486		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:158991382C>T	ENST00000005756.4	+	7	1128	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	UPP2_ENST00000460456.1_3'UTR|UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000605860.1_Missense_Mutation_p.R369W|UPP2_ENST00000409859.4_Missense_Mutation_p.R369W	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	312					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CATCAGACGGCGGCTTGGACT	0.493																																						uc002tzp.2		NA																	0					0						c.(934-936)CGG>TGG		uridine phosphorylase 2 isoform a							140.0	127.0	131.0					2																	158991382		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158991382C>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.934C>T	2.37:g.158991382C>T	ENSP00000005756:p.Arg312Trp					UPP2_uc002tzo.2_Missense_Mutation_p.R369W	p.R312W	NM_173355	NP_775491	O95045	UPP2_HUMAN			7	1128	+			312					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.934C>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082107	0.36758	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.33438	1.41;1.45	5.07	-2.86	0.05717	.	0.487974	0.22845	N	0.054923	T	0.18964	0.0455	L	0.49126	1.545	0.35325	D	0.785097	B	0.15141	0.012	B	0.04013	0.001	T	0.04840	-1.0923	10	0.59425	D	0.04	.	0.6987	0.00904	0.3836:0.2556:0.1252:0.2356	.	312	O95045	UPP2_HUMAN	W	369;312	ENSP00000387230:R369W;ENSP00000005756:R312W	ENSP00000005756:R312W	R	+	1	2	UPP2	158699628	1.000000	0.71417	0.002000	0.10522	0.879000	0.50718	1.767000	0.38501	-0.864000	0.04078	-0.979000	0.02580	CGG		0.493	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		8	90	0	0	0	0	8	90				
B3GALT1	8708	broad.mit.edu	37	2	168725997	168725997	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:168725997C>A	ENST00000392690.3	+	1	540	c.448C>A	c.(448-450)Cat>Aat	p.H150N	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.H150N|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	150					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGACTCCTACCATAACCTTAC	0.428																																						uc002udz.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(448-450)CAT>AAT		UDP-Gal:betaGlcNAc beta							89.0	83.0	85.0					2																	168725997		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725997C>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.448C>A	2.37:g.168725997C>A	ENSP00000376456:p.His150Asn						p.H150N	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	799	+			150			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.448C>A	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693640	0.30052	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.40476	1.03;1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	N	0.05330	-0.07	0.80722	D	1	B	0.23377	0.084	B	0.26094	0.066	T	0.10042	-1.0647	10	0.21540	T	0.41	-21.8349	20.8794	0.99867	0.0:1.0:0.0:0.0	.	150	Q9Y5Z6	B3GT1_HUMAN	N	150	ENSP00000303740:H150N;ENSP00000376456:H150N	ENSP00000303740:H150N	H	+	1	0	B3GALT1	168434243	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	CAT		0.428	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		9	51	1	0	0.000274275	0.00117641	9	51				
TTN	7273	broad.mit.edu	37	2	179620992	179620992	+	Intron	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:179620992G>C	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D3737E|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3566E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTCCACAGTCATTGTGTA	0.388																																						uc010zfh.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10696-10698)GAC>GAG		titin isoform novex-2							183.0	179.0	180.0					2																	179620992		1941	4149	6090	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179620992G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2718C>G	2.37:g.179620992G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.D3566E	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10922	-			3580					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10698C>G		.	.	.	.	.	.	.	.	.	.	G	12.51	1.961027	0.34565	.	.	ENSG00000155657	ENST00000342175	T	0.63913	-0.07	6.16	-2.73	0.05950	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	8	0.87932	D	0	.	4.7012	0.12828	0.2032:0.1184:0.5341:0.1443	.	3566	E7ET18	.	E	3566	ENSP00000340554:D3566E	ENSP00000340554:D3566E	D	-	3	2	TTN	179329237	0.000000	0.05858	0.005000	0.12908	0.994000	0.84299	-0.205000	0.09411	-0.048000	0.13401	0.650000	0.86243	GAC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	111	0	0	0	0	32	111				
SH3BP4	23677	broad.mit.edu	37	2	235950011	235950011	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:235950011T>A	ENST00000409212.1	+	4	1105	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.S200T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.S200T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	200					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGCAGGTACATCCTCCTTCAC	0.537																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(598-600)TCC>ACC		SH3-domain binding protein 4							105.0	103.0	104.0					2																	235950011		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950011T>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.598T>A	2.37:g.235950011T>A	ENSP00000386862:p.Ser200Thr					SH3BP4_uc010fym.2_Missense_Mutation_p.S200T|SH3BP4_uc002vvq.2_Missense_Mutation_p.S200T	p.S200T	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	991	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	200					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.598T>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	T	3.742	-0.053290	0.07362	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.09538	2.97;2.97;2.97	5.48	-8.7	0.00851	.	0.612559	0.18399	N	0.142403	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.31861	-0.9928	10	0.36615	T	0.2	-3.0945	9.0818	0.36556	0.0:0.2331:0.5028:0.2641	.	200;200	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	200	ENSP00000375867:S200T;ENSP00000386862:S200T;ENSP00000340237:S200T	ENSP00000340237:S200T	S	+	1	0	SH3BP4	235614750	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.407000	0.07178	-1.037000	0.03283	-0.299000	0.09455	TCC		0.537	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			31	88	0	0	0	0	31	88				
ANO7	50636	broad.mit.edu	37	2	242162677	242162677	+	Missense_Mutation	SNP	G	G	A	rs537399613		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:242162677G>A	ENST00000274979.8	+	22	2663	c.2560G>A	c.(2560-2562)Gtc>Atc	p.V854I	ANO7_ENST00000402430.3_Missense_Mutation_p.V853I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	854					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCTTCGTCATTGTGTT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20366	0.0		0.0	False		,,,				2504	0.0					uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(2560-2562)GTC>ATC		transmembrane protein 16G isoform NGEP long							186.0	158.0	167.0					2																	242162677		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242162677G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2560G>A	2.37:g.242162677G>A	ENSP00000274979:p.Val854Ile						p.V854I	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			22	2663	+			854			Helical; (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2560G>A	CCDS33423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.077|2.077	-0.411626|-0.411626	0.04799|0.04799	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.62941	.|-0.01;-0.01	3.38|3.38	1.44|1.44	0.22558|0.22558	.|.	.|0.579135	.|0.15287	.|U	.|0.270381	T|T	0.33147|0.33147	0.0853|0.0853	N|N	0.17345|0.17345	0.48|0.48	0.29777|0.29777	N|N	0.834311|0.834311	.|P	.|0.44578	.|0.838	.|B	.|0.36567	.|0.228	T|T	0.28267|0.28267	-1.0049|-1.0049	5|10	.|0.10111	.|T	.|0.7	.|.	4.1173|4.1173	0.10088|0.10088	0.4206:0.1779:0.4015:0.0|0.4206:0.1779:0.4015:0.0	.|.	.|854	.|Q6IWH7	.|ANO7_HUMAN	H|I	166|854;853	.|ENSP00000274979:V854I;ENSP00000385418:V853I	.|ENSP00000274979:V854I	R|V	+|+	2|1	0|0	ANO7|ANO7	241811350|241811350	0.000000|0.000000	0.05858|0.05858	0.873000|0.873000	0.34254|0.34254	0.811000|0.811000	0.45836|0.45836	-0.150000|-0.150000	0.10189|0.10189	0.522000|0.522000	0.28464|0.28464	0.467000|0.467000	0.42956|0.42956	CGT|GTC		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		44	134	0	0	0	0	44	134				
DZANK1	55184	broad.mit.edu	37	20	18371073	18371073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:18371073C>T	ENST00000358866.6	-	17	1862	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	DZANK1_ENST00000262547.5_Missense_Mutation_p.G614R|DZANK1_ENST00000329494.5_Missense_Mutation_p.G592R|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Missense_Mutation_p.G500R			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	614							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCCGTGGGTCCGACTTCCTTC	0.488																																						uc010zsa.1		NA																	0				ovary(1)	1						c.(1897-1899)GGA>AGA		hypothetical protein LOC55184							120.0	119.0	119.0					20																	18371073		1931	4134	6065	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18371073C>T	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1840G>A	20.37:g.18371073C>T	ENSP00000351734:p.Gly614Arg					C20orf12_uc010zrz.1_Missense_Mutation_p.G152R|C20orf12_uc002wqp.3_Missense_Mutation_p.G324R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.G500R|C20orf12_uc002wqq.3_Missense_Mutation_p.G614R	p.G633R	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			18	2106	-		Myeloproliferative disorder(85;0.0122)	441			ANK 1.		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1897G>A	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843326	0.32606	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.66638	-0.08;-0.22;0.49;-0.1	5.6	3.46	0.39613	.	0.282966	0.39615	N	0.001306	T	0.79718	0.4494	M	0.80508	2.5	0.09310	N	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.73380	0.917;0.972;0.962;0.98	T	0.70163	-0.4947	10	0.87932	D	0	-8.0701	10.122	0.42627	0.0:0.7849:0.0:0.2151	.	633;500;614;399	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	R	447;614;592;446;399;500	ENSP00000366857:G447R;ENSP00000262547:G614R;ENSP00000328866:G592R;ENSP00000349774:G500R	ENSP00000262547:G614R	G	-	1	0	C20orf12	18319073	0.215000	0.23574	0.044000	0.18714	0.011000	0.07611	2.016000	0.40971	1.364000	0.46038	0.655000	0.94253	GGA		0.488	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		16	130	0	0	0	0	16	130				
PTPRT	11122	broad.mit.edu	37	20	40710552	40710552	+	Silent	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:40710552A>G	ENST00000373187.1	-	30	4241	c.4242T>C	c.(4240-4242)cgT>cgC	p.R1414R	PTPRT_ENST00000373201.1_Silent_p.R1404R|PTPRT_ENST00000373198.4_Silent_p.R1433R|PTPRT_ENST00000373190.1_Silent_p.R1413R|PTPRT_ENST00000373184.1_Silent_p.R1424R|PTPRT_ENST00000356100.2_Silent_p.R1423R|PTPRT_ENST00000373193.3_Silent_p.R1417R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTTGTTGTTACGCAGTGTTT	0.502																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(4240-4242)CGT>CGC		protein tyrosine phosphatase, receptor type, T							185.0	186.0	185.0					20																	40710552		2088	4219	6307	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710552A>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4242T>C	20.37:g.40710552A>G						PTPRT_uc010ggj.2_Silent_p.R1433R|PTPRT_uc010ggi.2_Silent_p.R617R	p.R1414R	NM_007050	NP_008981	O14522	PTPRT_HUMAN			30	4426	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1414			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.4242T>C	CCDS42874.1																																																																																				0.502	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			27	103	0	0	0	0	27	103				
TUBB1	81027	broad.mit.edu	37	20	57598597	57598597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr20:57598597G>A	ENST00000217133.1	+	3	488	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	73					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGGGACGATGGACAGCATTC	0.463																																						uc002yak.2		NA																	0				ovary(1)	1						c.(217-219)ATG>ATA		beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						151.0	149.0	150.0					20																	57598597		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598597G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.219G>A	20.37:g.57598597G>A	ENSP00000217133:p.Met73Ile						p.M73I	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		3	488	+	all_lung(29;0.00711)		73						Missense_Mutation	SNP	ENST00000217133.1	37	c.219G>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538993	0.65085	.	.	ENSG00000101162	ENST00000217133	T	0.64085	-0.08	5.09	5.09	0.68999	Tubulin/FtsZ, GTPase domain (4);	0.037293	0.85682	D	0.000000	T	0.59307	0.2184	N	0.19112	0.55	0.80722	D	1	P	0.36647	0.563	P	0.45946	0.498	T	0.65565	-0.6137	10	0.87932	D	0	.	17.4529	0.87597	0.0:0.0:1.0:0.0	.	73	Q9H4B7	TBB1_HUMAN	I	73	ENSP00000217133:M73I	ENSP00000217133:M73I	M	+	3	0	TUBB1	57031992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.755000	0.98912	2.370000	0.80446	0.655000	0.94253	ATG		0.463	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		30	106	0	0	0	0	30	106				
SERPIND1	3053	broad.mit.edu	37	22	21134259	21134259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134259C>T	ENST00000215727.5	+	2	942	c.659C>T	c.(658-660)tCa>tTa	p.S220L	SERPIND1_ENST00000406799.1_Missense_Mutation_p.S220L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	220					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACACTGCGGTCAGTCAATGAC	0.433																																						uc002ztb.1		NA																	0					0						c.(658-660)TCA>TTA		heparin cofactor II precursor	Ardeparin(DB00407)						94.0	91.0	92.0					22																	21134259		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134259C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.659C>T	22.37:g.21134259C>T	ENSP00000215727:p.Ser220Leu					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.S248L	p.S220L	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	726	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	220					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.659C>T	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640107	0.67244	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.82984	-1.67;-1.67	5.97	5.97	0.96955	Serpin domain (3);	0.113042	0.64402	D	0.000007	T	0.76343	0.3974	L	0.33792	1.035	0.80722	D	1	B;B	0.29270	0.24;0.24	B;B	0.28709	0.093;0.093	T	0.71140	-0.4679	10	0.10902	T	0.67	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	220;220	Q8IVC0;P05546	.;HEP2_HUMAN	L	220	ENSP00000215727:S220L;ENSP00000384050:S220L	ENSP00000215727:S220L	S	+	2	0	SERPIND1	19464259	1.000000	0.71417	0.924000	0.36721	0.973000	0.67179	7.773000	0.85462	2.837000	0.97791	0.655000	0.94253	TCA		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		90	321	0	0	0	0	90	321				
SERPIND1	3053	broad.mit.edu	37	22	21134279	21134279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134279C>T	ENST00000215727.5	+	2	962	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.Q227*|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	227					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTATATCCAGAAGCAGTT	0.438																																						uc002ztb.1		NA																	0					0						c.(679-681)CAG>TAG		heparin cofactor II precursor	Ardeparin(DB00407)						88.0	88.0	88.0					22																	21134279		2203	4300	6503	SO:0001587	stop_gained	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134279C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.679C>T	22.37:g.21134279C>T	ENSP00000215727:p.Gln227*					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.Q255*	p.Q227*	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	746	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	227					B2RAI1|D3DX34|Q6IBZ5	Nonsense_Mutation	SNP	ENST00000215727.5	37	c.679C>T	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592055	0.97688	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	.	.	.	5.97	5.97	0.96955	.	0.164330	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	15.1788	0.72938	0.1409:0.859:0.0:0.0	.	.	.	.	X	227	.	ENSP00000215727:Q227X	Q	+	1	0	SERPIND1	19464279	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	3.920000	0.56446	2.837000	0.97791	0.655000	0.94253	CAG		0.438	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		135	319	0	0	0	0	135	319				
SERPIND1	3053	broad.mit.edu	37	22	21134359	21134359	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134359C>T	ENST00000215727.5	+	2	1042	c.759C>T	c.(757-759)ttC>ttT	p.F253F	SERPIND1_ENST00000406799.1_Silent_p.F253F|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	253					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TAGCTGACTTCTCAGACCCTG	0.433																																						uc002ztb.1		NA																	0					0						c.(757-759)TTC>TTT		heparin cofactor II precursor	Ardeparin(DB00407)						149.0	152.0	151.0					22																	21134359		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134359C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.759C>T	22.37:g.21134359C>T						PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.F281F	p.F253F	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	826	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	253					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.759C>T	CCDS13783.1																																																																																				0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		378	576	0	0	0	0	378	576				
SERPIND1	3053	broad.mit.edu	37	22	21134379	21134379	+	Nonsense_Mutation	SNP	C	C	G	rs76882693		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134379C>G	ENST00000215727.5	+	2	1062	c.779C>G	c.(778-780)tCa>tGa	p.S260*	SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.S260*|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	260					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GCCTTCATATCAAAAACCAAC	0.438																																						uc002ztb.1		NA																	0					0						c.(778-780)TCA>TGA		heparin cofactor II precursor	Ardeparin(DB00407)						170.0	174.0	173.0					22																	21134379		2203	4300	6503	SO:0001587	stop_gained	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134379C>G	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.779C>G	22.37:g.21134379C>G	ENSP00000215727:p.Ser260*					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.S288*	p.S260*	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	846	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	260					B2RAI1|D3DX34|Q6IBZ5	Nonsense_Mutation	SNP	ENST00000215727.5	37	c.779C>G	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382330	0.95967	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	.	.	.	5.97	1.09	0.20402	.	0.891913	0.09899	N	0.741241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.6493	0.22953	0.1522:0.5681:0.2172:0.0625	.	.	.	.	X	260	.	ENSP00000215727:S260X	S	+	2	0	SERPIND1	19464379	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	0.182000	0.16900	0.323000	0.23307	0.655000	0.94253	TCA		0.438	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		392	548	0	0	0	0	392	548				
SERPIND1	3053	broad.mit.edu	37	22	21134470	21134470	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134470C>T	ENST00000215727.5	+	2	1153	c.870C>T	c.(868-870)ctC>ctT	p.L290L	SERPIND1_ENST00000406799.1_Silent_p.L290L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	290					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TGATGATTCTCAACTGCATCT	0.418																																						uc002ztb.1		NA																	0					0						c.(868-870)CTC>CTT		heparin cofactor II precursor	Ardeparin(DB00407)						155.0	164.0	161.0					22																	21134470		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134470C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.870C>T	22.37:g.21134470C>T						PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L318L	p.L290L	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	937	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	290					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.870C>T	CCDS13783.1																																																																																				0.418	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		397	530	0	0	0	0	397	530				
SERPIND1	3053	broad.mit.edu	37	22	21134479	21134479	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:21134479C>T	ENST00000215727.5	+	2	1162	c.879C>T	c.(877-879)atC>atT	p.I293I	SERPIND1_ENST00000406799.1_Silent_p.I293I|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	293					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TCAACTGCATCTACTTCAAAG	0.423																																						uc002ztb.1		NA																	0					0						c.(877-879)ATC>ATT		heparin cofactor II precursor	Ardeparin(DB00407)						143.0	151.0	149.0					22																	21134479		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134479C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.879C>T	22.37:g.21134479C>T						PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.I321I	p.I293I	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	946	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	293					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.879C>T	CCDS13783.1																																																																																				0.423	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		387	522	0	0	0	0	387	522				
SUSD2	56241	broad.mit.edu	37	22	24582117	24582117	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:24582117G>A	ENST00000358321.3	+	9	1734	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	491	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGCCCGGGACGATGTCCAACG	0.662																																						uc002zzn.1		NA																	0				skin(1)	1						c.(1471-1473)ACG>ACA		sushi domain containing 2 precursor							17.0	18.0	18.0					22																	24582117		2198	4296	6494	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582117G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1473G>A	22.37:g.24582117G>A							p.T491T	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			9	1517	+			491			VWFD.|Extracellular (Potential).		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1473G>A	CCDS13824.1																																																																																				0.662	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		4	21	0	0	0	0	4	21				
XRCC6	2547	broad.mit.edu	37	22	42032124	42032124	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:42032124A>G	ENST00000359308.4	+	3	858	c.203A>G	c.(202-204)cAa>cGa	p.Q68R	XRCC6_ENST00000405878.1_Missense_Mutation_p.Q68R|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405506.1_Missense_Mutation_p.Q18R|XRCC6_ENST00000402580.3_Intron|XRCC6_ENST00000360079.3_Missense_Mutation_p.Q68R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	68					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTGTATCCAAAGTGTGTAC	0.338								Non-homologous end-joining																														uc003bao.1		NA																	0				skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(202-204)CAA>CGA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							66.0	68.0	67.0					22																	42032124		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42032124A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.203A>G	22.37:g.42032124A>G	ENSP00000352257:p.Gln68Arg					XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Missense_Mutation_p.Q18R|XRCC6_uc003baq.1_Missense_Mutation_p.Q68R|XRCC6_uc003bar.1_Missense_Mutation_p.Q68R|XRCC6_uc003bas.1_Missense_Mutation_p.Q18R	p.Q68R	NM_001469	NP_001460	P12956	XRCC6_HUMAN			4	273	+			68					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.203A>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	4.859	0.159734	0.09287	.	.	ENSG00000196419	ENST00000360079;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.71	-2.16	0.07080	Ku70/Ku80, N-terminal alpha/beta (1);	0.299531	0.36932	N	0.002332	T	0.15998	0.0385	N	0.04746	-0.17	0.27056	N	0.963678	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.37692	0.256;0.041;0.256	T	0.35325	-0.9793	9	0.09843	T	0.71	-0.1123	4.472	0.11717	0.3227:0.0:0.3319:0.3454	.	18;68;68	B1AHC9;B1AHC7;P12956	.;.;XRCC6_HUMAN	R	68;68;68;68;18	.	ENSP00000352257:Q68R	Q	+	2	0	XRCC6	40362070	1.000000	0.71417	0.949000	0.38748	0.998000	0.95712	1.176000	0.31957	-0.519000	0.06444	0.533000	0.62120	CAA		0.338	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		7	34	0	0	0	0	7	34				
TUBGCP6	85378	broad.mit.edu	37	22	50664276	50664276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr22:50664276C>T	ENST00000248846.5	-	10	2034	c.1930G>A	c.(1930-1932)Gtt>Att	p.V644I	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V644I|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	644					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATGCGCCCAACGTAGACGGCA	0.607																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1930-1932)GTT>ATT		tubulin, gamma complex associated protein 6							67.0	58.0	61.0					22																	50664276		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664276C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1930G>A	22.37:g.50664276C>T	ENSP00000248846:p.Val644Ile					TUBGCP6_uc010har.1_Missense_Mutation_p.V644I|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	p.V644I	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	10	2442	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	644					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1930G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694308	0.68386	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13538	2.93;2.58	5.19	4.18	0.49190	.	0.911369	0.09505	N	0.793074	T	0.34687	0.0906	L	0.58101	1.795	0.30531	N	0.767474	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.949	T	0.15321	-1.0441	10	0.48119	T	0.1	.	13.4598	0.61221	0.0:0.9241:0.0:0.0759	.	644;644	B2RWN4;Q96RT7	.;GCP6_HUMAN	I	644	ENSP00000248846:V644I;ENSP00000397387:V644I	ENSP00000248846:V644I	V	-	1	0	TUBGCP6	49006403	0.998000	0.40836	0.973000	0.42090	0.534000	0.34807	4.063000	0.57499	1.195000	0.43115	0.462000	0.41574	GTT		0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		5	36	0	0	0	0	5	36				
TRANK1	9881	broad.mit.edu	37	3	36897578	36897578	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:36897578A>G	ENST00000429976.2	-	12	3750	c.3503T>C	c.(3502-3504)cTt>cCt	p.L1168P	TRANK1_ENST00000428977.2_Missense_Mutation_p.L618P|TRANK1_ENST00000301807.6_Missense_Mutation_p.L618P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1168							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACTTGGAAAGCTCAATGAA	0.483																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1852-1854)CTT>CCT		lupus brain antigen 1							178.0	180.0	179.0					3																	36897578		2008	4181	6189	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897578A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3503T>C	3.37:g.36897578A>G	ENSP00000416168:p.Leu1168Pro						p.L618P	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2155	-			1168					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1853T>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163974	0.57476	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.83419	-1.72;-1.72;-1.72	5.36	5.36	0.76844	.	0.000000	0.52532	D	0.000065	D	0.91226	0.7235	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92471	0.5985	10	0.87932	D	0	.	15.6661	0.77230	1.0:0.0:0.0:0.0	.	1168	O15050	TRNK1_HUMAN	P	618;1168;618	ENSP00000416826:L618P;ENSP00000416168:L1168P;ENSP00000301807:L618P	ENSP00000301807:L618P	L	-	2	0	TRANK1	36872582	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.176000	0.77643	2.171000	0.68590	0.459000	0.35465	CTT		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		37	115	0	0	0	0	37	115				
APEH	327	broad.mit.edu	37	3	49721591	49721591	+	IGR	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:49721591G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.T683I	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGTTGTGGGTAAAGCAGGC	0.562																																						uc003cxg.2		NA																	0				lung(1)	1						c.(2047-2049)ACC>ATC		macrophage stimulating 1 (hepatocyte growth							33.0	31.0	31.0					3																	49721591		2203	4299	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721591G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721591G>A							p.T683I	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	18	2120	-			669			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.2048C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944199	0.73672	.	.	ENSG00000173531	ENST00000449682	D	0.88896	-2.44	5.59	5.59	0.84812	.	0.000000	0.43579	D	0.000543	D	0.91310	0.7260	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92048	0.5646	10	0.59425	D	0.04	.	19.5863	0.95490	0.0:0.0:1.0:0.0	.	683	G3XAK1	.	I	683	ENSP00000414287:T683I	ENSP00000414287:T683I	T	-	2	0	MST1	49696595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.873000	0.75541	2.621000	0.88768	0.655000	0.94253	ACC		0.562	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	36	0	0	0	0	8	36				
EPHA3	2042	broad.mit.edu	37	3	89521703	89521703	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:89521703A>T	ENST00000336596.2	+	16	3005	c.2780A>T	c.(2779-2781)cAc>cTc	p.H927L	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	927	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACAGCACACTGCAAGGAA	0.428										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2779-2781)CAC>CTC		ephrin receptor EphA3 isoform a precursor							139.0	130.0	133.0					3																	89521703		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521703A>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2780A>T	3.37:g.89521703A>T	ENSP00000337451:p.His927Leu	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.H927L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	3005	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	927			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2780A>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286781	0.59867	.	.	ENSG00000044524	ENST00000336596	D	0.85411	-1.98	5.73	5.73	0.89815	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.110120	0.64402	D	0.000004	T	0.74772	0.3760	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.15870	0.014	T	0.68899	-0.5287	9	.	.	.	.	11.9415	0.52903	0.8551:0.1449:0.0:0.0	.	927	P29320	EPHA3_HUMAN	L	927	ENSP00000337451:H927L	.	H	+	2	0	EPHA3	89604393	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	4.271000	0.58902	2.181000	0.69327	0.533000	0.62120	CAC		0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		16	149	0	0	0	0	16	149				
BOC	91653	broad.mit.edu	37	3	112991529	112991529	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:112991529C>G	ENST00000495514.1	+	7	1644	c.940C>G	c.(940-942)Ctc>Gtc	p.L314V	BOC_ENST00000355385.3_Missense_Mutation_p.L314V|BOC_ENST00000273395.4_Missense_Mutation_p.L314V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	314	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCGGTCATCCTCTACAATGT	0.582																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(940-942)CTC>GTC		brother of CDO precursor							118.0	103.0	108.0					3																	112991529		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112991529C>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.940C>G	3.37:g.112991529C>G	ENSP00000418663:p.Leu314Val					BOC_uc003dzy.2_Missense_Mutation_p.L314V|BOC_uc003dzz.2_Missense_Mutation_p.L314V|BOC_uc003eab.2_Missense_Mutation_p.L15V	p.L314V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		7	1561	+			314			Ig-like C2-type 3.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.940C>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407879	0.42715	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.28895	1.59;1.59;1.59	5.92	5.92	0.95590	.	0.192703	0.45867	D	0.000339	T	0.33411	0.0862	M	0.64170	1.965	0.37903	D	0.931128	B;B	0.24043	0.048;0.096	B;B	0.29440	0.037;0.102	T	0.28808	-1.0032	10	0.62326	D	0.03	.	10.335	0.43844	0.0:0.8506:0.0:0.1494	.	314;314	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	V	314	ENSP00000418663:L314V;ENSP00000273395:L314V;ENSP00000347546:L314V	ENSP00000273395:L314V	L	+	1	0	BOC	114474219	0.996000	0.38824	1.000000	0.80357	0.701000	0.40568	2.707000	0.47143	2.810000	0.96702	0.650000	0.86243	CTC		0.582	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		7	41	0	0	0	0	7	41				
MAATS1	89876	broad.mit.edu	37	3	119459395	119459395	+	Splice_Site	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:119459395G>T	ENST00000273390.5	+	13	1610		c.e13-1			NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1							mitochondrion (GO:0005739)											ATTTGATACAGATGTTTGAAG	0.468																																						uc003ede.3		NA																	0				ovary(2)|pancreas(1)	3						c.e13-1		AAT1-alpha							90.0	94.0	93.0					3																	119459395		2203	4300	6503	SO:0001630	splice_region_variant	89876					mitochondrion	protein binding	g.chr3:119459395G>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1534-1G>T	3.37:g.119459395G>T						C3orf15_uc010hqy.1_Splice_Site_p.M512_splice|C3orf15_uc010hqz.2_Splice_Site_p.M450_splice|C3orf15_uc011bjd.1_Splice_Site_p.M386_splice|C3orf15_uc011bje.1_Splice_Site_p.M492_splice|C3orf15_uc010hra.1_Splice_Site_p.M273_splice	p.M512_splice	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1611	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Splice_Site	SNP	ENST00000273390.5	37	c.1534_splice	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647890	0.87958	.	.	ENSG00000183833	ENST00000273390	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3542	0.94404	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf15	120942085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.828000	0.92047	2.585000	0.87301	0.591000	0.81541	.		0.468	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	Intron	11	75	1	0	9.31e-06	4.11e-05	11	75				
GOLGB1	2804	broad.mit.edu	37	3	121409852	121409852	+	Missense_Mutation	SNP	C	C	T	rs375250064		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:121409852C>T	ENST00000340645.5	-	14	8469	c.8344G>A	c.(8344-8346)Gat>Aat	p.D2782N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2787N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2782					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGAAGAGCATCTCTCTCTCTG	0.418																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(8344-8346)GAT>AAT		golgi autoantigen, golgin subfamily b,							133.0	122.0	126.0					3																	121409852		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409852C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8344G>A	3.37:g.121409852C>T	ENSP00000341848:p.Asp2782Asn					GOLGB1_uc010hrc.2_Missense_Mutation_p.D2787N|GOLGB1_uc003eej.3_Missense_Mutation_p.D2748N	p.D2782N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8470	-			2782			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8344G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.794	-0.757902	0.03019	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.21932	1.98;1.98	5.3	2.58	0.30949	.	0.487230	0.20334	N	0.094361	T	0.25791	0.0628	M	0.63428	1.95	0.09310	N	1	P;B;D	0.55800	0.675;0.015;0.973	B;B;P	0.50659	0.426;0.022;0.647	T	0.13737	-1.0498	10	0.16896	T	0.51	.	7.5937	0.28035	0.0:0.6977:0.1402:0.1621	.	2787;2787;2782	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	N	2782;2787	ENSP00000341848:D2782N;ENSP00000377275:D2787N	ENSP00000341848:D2782N	D	-	1	0	GOLGB1	122892542	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.427000	0.21379	0.113000	0.18004	-0.795000	0.03280	GAT		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		7	76	0	0	0	0	7	76				
HMCES	56941	broad.mit.edu	37	3	129009622	129009622	+	Missense_Mutation	SNP	A	A	G	rs142370950		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:129009622A>G	ENST00000383463.4	+	4	517	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	HMCES_ENST00000417226.2_Intron|HMCES_ENST00000502878.2_Missense_Mutation_p.Y143C|HMCES_ENST00000389735.3_Missense_Mutation_p.Y143C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	143							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TACTTCATCTATTTTCCTCAA	0.413																																						uc003elt.2		NA																	0				ovary(1)	1						c.(427-429)TAT>TGT		hypothetical protein LOC56941		A	CYS/TYR,CYS/TYR	2,4404	4.2+/-10.8	0,2,2201	118.0	109.0	112.0		428,428	5.3	1.0	3	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C3orf37	NM_001006109.1,NM_020187.2	194,194	0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	143/355,143/355	129009622	3,13003	2203	4300	6503	SO:0001583	missense	56941							g.chr3:129009622A>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.428A>G	3.37:g.129009622A>G	ENSP00000372955:p.Tyr143Cys					C3orf37_uc003elu.2_Intron|C3orf37_uc003elv.2_Missense_Mutation_p.Y143C|C3orf37_uc003elw.2_Missense_Mutation_p.Y143C	p.Y143C	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			4	516	+			143					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.428A>G	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691075	0.68271	4.54E-4	1.16E-4	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.26	5.26	0.73747	.	0.058454	0.64402	D	0.000001	T	0.78997	0.4372	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81844	-0.0746	9	0.66056	D	0.02	-24.1777	13.1011	0.59219	1.0:0.0:0.0:0.0	.	143	Q96FZ2	CC037_HUMAN	C	95;143;143;143;143	.	ENSP00000372955:Y143C	Y	+	2	0	C3orf37	130492312	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.595000	0.82710	1.973000	0.57446	0.477000	0.44152	TAT		0.413	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		11	73	0	0	0	0	11	73				
CEP63	80254	broad.mit.edu	37	3	134278043	134278043	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:134278043A>C	ENST00000337090.3	+	14	1898	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K575N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K575N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	575					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCACTACAAAACAGATCTTC	0.443																																						uc003eqo.1		NA																	0				ovary(1)	1						c.(1723-1725)AAA>AAC		centrosomal protein 63 isoform a							150.0	149.0	149.0					3																	134278043		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278043A>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1725A>C	3.37:g.134278043A>C	ENSP00000336524:p.Lys575Asn					CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.K575N	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			15	2174	+			575					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1725A>C	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353512	0.41700	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.20332	2.08;2.08	4.77	3.63	0.41609	.	0.461351	0.22190	N	0.063390	T	0.21718	0.0523	M	0.62723	1.935	0.26079	N	0.981117	P	0.44429	0.835	P	0.44561	0.453	T	0.06734	-1.0810	10	0.21540	T	0.41	-5.1265	6.5288	0.22316	0.8944:0.0:0.1056:0.0	.	575	Q96MT8	CEP63_HUMAN	N	575	ENSP00000336524:K575N;ENSP00000426129:K575N	ENSP00000336524:K575N	K	+	3	2	CEP63	135760733	0.886000	0.30341	0.460000	0.27093	0.796000	0.44982	1.801000	0.38843	2.111000	0.64477	0.528000	0.53228	AAA		0.443	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		53	168	0	0	0	0	53	168				
ATR	545	broad.mit.edu	37	3	142180856	142180856	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:142180856T>A	ENST00000350721.4	-	42	7239	c.7118A>T	c.(7117-7119)gAa>gTa	p.E2373V	ATR_ENST00000383101.3_Missense_Mutation_p.E2309V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2373	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATCCCACATTCATCATTTAG	0.313								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7117-7119)GAA>GTA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							139.0	144.0	143.0					3																	142180856		2203	4298	6501	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142180856T>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7118A>T	3.37:g.142180856T>A	ENSP00000343741:p.Glu2373Val					ATR_uc003euy.1_Missense_Mutation_p.E259V	p.E2373V	NM_001184	NP_001175	Q13535	ATR_HUMAN			42	7240	-			2373			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7118A>T	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.0|29.0	4.965039|4.965039	0.92855|0.92855	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.82984|.	-1.67;-1.67|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75027|.	0.3794|.	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65140|.	0.932|.	T|.	0.75903|.	-0.3153|.	10|.	0.72032|.	D|.	0.01|.	-15.2138|-15.2138	15.6078|15.6078	0.76689|0.76689	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2373|.	Q13535|.	ATR_HUMAN|.	V|C	2373;2309|219	ENSP00000343741:E2373V;ENSP00000372581:E2309V|.	ENSP00000343741:E2373V|.	E|X	-|-	2|3	0|0	ATR|ATR	143663546|143663546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.997000|7.997000	0.88414|0.88414	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		47	189	0	0	0	0	47	189				
LRRC15	131578	broad.mit.edu	37	3	194080176	194080176	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:194080176T>C	ENST00000347624.3	-	2	1682	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A	LRRC15_ENST00000428839.1_Missense_Mutation_p.T539A|LRRC15_ENST00000439944.2_Missense_Mutation_p.T539A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	533					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGGCCTGGGTCATGCCCCAA	0.587																																						uc003ftu.2		NA																	0				ovary(3)	3						c.(1597-1599)ACC>GCC		leucine rich repeat containing 15 isoform b							91.0	89.0	90.0					3																	194080176		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080176T>C	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1597A>G	3.37:g.194080176T>C	ENSP00000306276:p.Thr533Ala					LRRC15_uc003ftt.2_Missense_Mutation_p.T539A	p.T533A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1683	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		533			Extracellular (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1597A>G	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	T	9.767	1.171602	0.21704	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56275	0.47;0.52;0.52	5.48	3.03	0.35002	.	0.843252	0.10598	N	0.655962	T	0.37489	0.1005	N	0.24115	0.695	0.42717	D	0.993664	B;B	0.27068	0.104;0.167	B;B	0.23716	0.022;0.048	T	0.06716	-1.0811	10	0.37606	T	0.19	.	9.0578	0.36416	0.1244:0.0:0.1308:0.7448	.	533;539	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	A	533;539;539	ENSP00000306276:T533A;ENSP00000389128:T539A;ENSP00000413707:T539A	ENSP00000306276:T533A	T	-	1	0	LRRC15	195561471	1.000000	0.71417	0.970000	0.41538	0.510000	0.34073	1.245000	0.32790	0.444000	0.26612	0.460000	0.39030	ACC		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			5	113	0	0	0	0	5	113				
MFI2	4241	broad.mit.edu	37	3	196753556	196753556	+	Silent	SNP	C	C	T	rs138189044		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr3:196753556C>T	ENST00000296350.5	-	3	392	c.279G>A	c.(277-279)ccG>ccA	p.P93P	MFI2_ENST00000296351.4_Silent_p.P93P	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	93	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCCCACCACCGGCTTCAGGC	0.617																																						uc003fxk.3		NA																	0					0						c.(277-279)CCG>CCA		melanoma-associated antigen p97 isoform 1		C	,	4,4402	8.1+/-20.4	0,4,2199	101.0	85.0	90.0		279,279	-4.2	0.9	3	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MFI2	NM_005929.5,NM_033316.3	,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,	93/739,93/303	196753556	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196753556C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.279G>A	3.37:g.196753556C>T						MFI2_uc003fxl.3_Silent_p.P93P|MFI2_uc011bua.1_Silent_p.P93P	p.P93P	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	3	392	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		93			Transferrin-like 1.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.279G>A	CCDS3325.1																																																																																				0.617	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			9	124	0	0	0	0	9	124				
IDUA	3425	broad.mit.edu	37	4	996204	996204	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:996204A>C	ENST00000247933.4	+	8	1208	c.1120A>C	c.(1120-1122)Acc>Ccc	p.T374P	IDUA_ENST00000514224.1_Missense_Mutation_p.T242P|IDUA_ENST00000453894.1_Missense_Mutation_p.T396P	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	374					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAACAACACCCGCCCGCC	0.711																																						uc003gby.2		NA																	0					0						c.(1120-1122)ACC>CCC		alpha-L-iduronidase precursor	Laronidase(DB00090)						26.0	28.0	27.0					4																	996204		2185	4282	6467	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:996204A>C	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1120A>C	4.37:g.996204A>C	ENSP00000247933:p.Thr374Pro					IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.T396P	p.T374P	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1208	+			374					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.1120A>C	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117066	0.77323	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.94280	-3.39;-3.39;-3.39	5.31	5.31	0.75309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156849	0.56097	D	0.000026	D	0.96611	0.8894	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96508	0.9376	10	0.46703	T	0.11	-7.29	13.2474	0.60029	1.0:0.0:0.0:0.0	.	396;374	B3KWK6;P35475	.;IDUA_HUMAN	P	374;396;242	ENSP00000247933:T374P;ENSP00000396458:T396P;ENSP00000425081:T242P	ENSP00000247933:T374P	T	+	1	0	IDUA	986204	1.000000	0.71417	0.995000	0.50966	0.426000	0.31534	5.967000	0.70403	2.024000	0.59613	0.454000	0.30748	ACC		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		4	5	0	0	0	0	4	5				
TRMT44	152992	broad.mit.edu	37	4	8472843	8472843	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:8472843C>T	ENST00000389737.4	+	10	1960	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L		NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	654					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGCCAACGAGCTGGACACGGA	0.557																																						uc003glg.1		NA																	0					0						c.(1273-1275)CTG>TTG		hypothetical protein LOC152992 isoform 2							100.0	115.0	110.0					4																	8472843		2203	4300	6503	SO:0001819	synonymous_variant	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8472843C>T	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1960C>T	4.37:g.8472843C>T						C4orf23_uc003glh.1_Silent_p.L262L|C4orf23_uc003gli.1_5'Flank	p.L425L	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			10	1461	+			654					Q8NA95	Silent	SNP	ENST00000389737.4	37	c.1273C>T	CCDS3402.2																																																																																				0.557	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		24	212	0	0	0	0	24	212				
BOD1L1	259282	broad.mit.edu	37	4	13603427	13603427	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:13603427T>C	ENST00000040738.5	-	10	5232	c.5097A>G	c.(5095-5097)gcA>gcG	p.A1699A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1699						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTATAGATCCTGCTCTTATCT	0.418																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(5095-5097)GCA>GCG		biorientation of chromosomes in cell division							197.0	212.0	207.0					4																	13603427		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603427T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5097A>G	4.37:g.13603427T>C						BOD1L_uc010idr.1_Silent_p.A1036A	p.A1699A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5214	-			1699					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5097A>G	CCDS3411.2																																																																																				0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		38	388	0	0	0	0	38	388				
RFC1	5981	broad.mit.edu	37	4	39308288	39308288	+	Missense_Mutation	SNP	C	C	A	rs1057749|rs374867437		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:39308288C>A	ENST00000381897.1	-	14	2055	c.1922G>T	c.(1921-1923)gGc>gTc	p.G641V	RFC1_ENST00000349703.2_Missense_Mutation_p.G640V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	641				G -> N (in Ref. 2, 3 and 4). {ECO:0000305}.	DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.G641>?(1)|p.G641V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAACTAGAGCCATCATCTTT	0.473																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	2	Substitution - Missense(1)|Complex(1)		kidney(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1921-1923)GGC>GTC		replication factor C large subunit		C	VAL/GLY,VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	89.0	86.0	87.0		1922,1919	5.9	1.0	4		87	0,8600		0,0,4300	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	109,109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign	641/1149,640/1148	39308288	1,13005	2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39308288C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1922G>T	4.37:g.39308288C>A	ENSP00000371321:p.Gly641Val					RFC1_uc003gtx.1_Missense_Mutation_p.G640V	p.G641V	NM_002913	NP_002904	P35251	RFC1_HUMAN			14	2056	-			641	G -> N (in Ref. 2, 3 and 4).				A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1922G>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270324	0.95429	2.27E-4	0.0	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.15834	2.39;2.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.72075	0.883;0.976	T	0.43360	-0.9396	10	0.52906	T	0.07	-5.744	20.2904	0.98542	0.0:1.0:0.0:0.0	.	641;640	P35251;P35251-2	RFC1_HUMAN;.	V	641;640	ENSP00000371321:G641V;ENSP00000261424:G640V	ENSP00000261424:G640V	G	-	2	0	RFC1	38984683	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.778000	0.68940	2.796000	0.96246	0.655000	0.94253	GGC		0.473	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		5	47	1	0	3.6e-05	0.000157662	5	47				
UGT2B4	7363	broad.mit.edu	37	4	70346487	70346487	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:70346487G>A	ENST00000305107.6	-	6	1498	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	UGT2B4_ENST00000381096.3_Silent_p.T348T|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	484					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTGGAACCAGGTGAGGTCGT	0.498																																						uc003hek.3		NA																	0				skin(2)	2						c.(1450-1452)ACC>ACT		UDP glucuronosyltransferase 2B4 precursor							149.0	143.0	145.0					4																	70346487		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346487G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1452C>T	4.37:g.70346487G>A						UGT2B4_uc011cap.1_Silent_p.T348T|UGT2B4_uc003hel.3_3'UTR	p.T484T	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1499	-			484					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1452C>T	CCDS43234.1																																																																																				0.498	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		35	169	0	0	0	0	35	169				
C4orf17	84103	broad.mit.edu	37	4	100451030	100451030	+	Missense_Mutation	SNP	C	C	T	rs145411536	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:100451030C>T	ENST00000326581.4	+	5	823	c.461C>T	c.(460-462)tCc>tTc	p.S154F	C4orf17_ENST00000514652.1_Missense_Mutation_p.S154F|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACTCCTGGCTCCTGTTCTTCA	0.378																																						uc003huw.2		NA																	0					0						c.(460-462)TCC>TTC		hypothetical protein LOC84103							94.0	88.0	90.0					4																	100451030		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100451030C>T	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.461C>T	4.37:g.100451030C>T	ENSP00000322582:p.Ser154Phe					C4orf17_uc003hux.2_RNA	p.S154F	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	5	784	+			154					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.461C>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642324	0.29246	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18960	2.18;2.18	4.77	1.96	0.26148	.	0.124348	0.36815	N	0.002382	T	0.17831	0.0428	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17349	-1.0372	10	0.30078	T	0.28	-9.4993	5.3319	0.15938	0.0:0.643:0.1667:0.1903	.	154	Q53FE4	CD017_HUMAN	F	154	ENSP00000322582:S154F;ENSP00000427663:S154F	ENSP00000322582:S154F	S	+	2	0	C4orf17	100670053	0.010000	0.17322	0.019000	0.16419	0.606000	0.37113	1.194000	0.32174	0.566000	0.29273	0.655000	0.94253	TCC		0.378	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		15	41	0	0	0	0	15	41				
ANK2	287	broad.mit.edu	37	4	114257135	114257135	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:114257135G>A	ENST00000357077.4	+	30	3566	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	ANK2_ENST00000506722.1_Silent_p.L1162L|ANK2_ENST00000264366.6_Silent_p.L1138L|ANK2_ENST00000394537.3_Silent_p.L1171L|ANK2_ENST00000509550.1_Silent_p.L347L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1171	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGTGTACTGAGCAGCACAG	0.567																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3511-3513)CTG>CTA		ankyrin 2 isoform 1							108.0	105.0	106.0					4																	114257135		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114257135G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3513G>A	4.37:g.114257135G>A						ANK2_uc003ibd.3_Silent_p.L1162L|ANK2_uc003ibf.3_Silent_p.L1171L|ANK2_uc011cgc.1_Silent_p.L347L|ANK2_uc003ibg.3_Silent_p.L166L|ANK2_uc003ibc.2_Silent_p.L1147L|ANK2_uc011cgb.1_Silent_p.L1186L	p.L1171L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3613	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1138					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3513G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137315	0.21123	.	.	ENSG00000145362	ENST00000514960	.	.	.	4.97	3.16	0.36331	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56980	-0.7889	4	.	.	.	.	10.263	0.43438	0.0736:0.2559:0.6705:0.0	.	.	.	.	K	184	.	.	E	+	1	0	ANK2	114476584	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.400000	0.20932	1.175000	0.42826	0.655000	0.94253	GAG		0.567	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	90	0	0	0	0	11	90				
PCDH18	54510	broad.mit.edu	37	4	138451748	138451748	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr4:138451748G>T	ENST00000344876.4	-	1	1881	c.1495C>A	c.(1495-1497)Caa>Aaa	p.Q499K	PCDH18_ENST00000412923.2_Missense_Mutation_p.Q499K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q279K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TATGTCACTTGCCCATTTTCT	0.408																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1495-1497)CAA>AAA		protocadherin 18 precursor							133.0	132.0	132.0					4																	138451748		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451748G>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1495C>A	4.37:g.138451748G>T	ENSP00000355082:p.Gln499Lys					PCDH18_uc003ihf.3_Missense_Mutation_p.Q492K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.Q279K|PCDH18_uc011cha.1_Intron	p.Q499K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1882	-	all_hematologic(180;0.24)		499			Extracellular (Potential).|Cadherin 5.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1495C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	6.377	0.437709	0.12104	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.49720	0.77;0.77;0.77	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.169394	0.27682	N	0.018300	T	0.32704	0.0838	N	0.03881	-0.34	0.80722	D	1	B;B;B	0.25719	0.034;0.0;0.132	B;B;B	0.35727	0.146;0.007;0.209	T	0.21861	-1.0233	10	0.13108	T	0.6	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	279;499;499	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	K	499;499;279	ENSP00000355082:Q499K;ENSP00000390688:Q499K;ENSP00000425903:Q279K	ENSP00000355082:Q499K	Q	-	1	0	PCDH18	138671198	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	6.446000	0.73460	2.802000	0.96397	0.563000	0.77884	CAA		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	135	1	0	1.03e-11	4.77e-11	17	135				
TRIO	7204	broad.mit.edu	37	5	14485179	14485179	+	Splice_Site	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:14485179T>G	ENST00000344204.4	+	47	6683	c.6659T>G	c.(6658-6660)gTg>gGg	p.V2220G	TRIO_ENST00000537187.1_Splice_Site_p.V2220G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2220	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTTTTTAAGGTGAGTTGCCTT	0.408																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6658-6660)GTG>GGG		triple functional domain (PTPRF interacting)							77.0	73.0	74.0					5																	14485179		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485179T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6658-1T>G	5.37:g.14485179T>G						TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.V1869G	p.V2220G	NM_007118	NP_009049	O75962	TRIO_HUMAN			47	6665	+	Lung NSC(4;0.000742)		2220			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6659T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435528	0.83885	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.14266	2.52;2.52	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.85542	2.76	0.80722	D	1	D;D	0.63046	0.989;0.992	P;P	0.48488	0.549;0.579	T	0.31024	-0.9958	10	0.87932	D	0	.	15.1658	0.72825	0.0:0.0:0.0:1.0	.	2220;2220	O75962-5;O75962	.;TRIO_HUMAN	G	2220;2220;1907	ENSP00000339299:V2220G;ENSP00000446348:V2220G	ENSP00000339299:V2220G	V	+	2	0	TRIO	14538179	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.040000	0.89188	1.978000	0.57642	0.528000	0.53228	GTG		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation	9	59	0	0	0	0	9	59				
CDH10	1008	broad.mit.edu	37	5	24505329	24505329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:24505329C>T	ENST00000264463.4	-	8	1792	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGATTCTGTCAAGGTCAGTA	0.368										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1285-1287)GAC>AAC		cadherin 10, type 2 preproprotein							95.0	91.0	93.0					5																	24505329		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505329C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1285G>A	5.37:g.24505329C>T	ENSP00000264463:p.Asp429Asn	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.D429N	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1617	-			429			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1285G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250237	0.95305	.	.	ENSG00000040731	ENST00000264463	T	0.52295	0.67	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.094180	0.64402	D	0.000001	T	0.48077	0.1480	L	0.55990	1.75	0.54753	D	0.999983	P	0.42483	0.781	B	0.39503	0.301	T	0.52771	-0.8531	10	0.59425	D	0.04	.	18.5333	0.91000	0.0:1.0:0.0:0.0	.	429	Q9Y6N8	CAD10_HUMAN	N	429	ENSP00000264463:D429N	ENSP00000264463:D429N	D	-	1	0	CDH10	24541086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.292000	0.78731	2.600000	0.87896	0.655000	0.94253	GAC		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		4	44	0	0	0	0	4	44				
AMACR	23600	broad.mit.edu	37	5	33998863	33998863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:33998863G>C	ENST00000335606.6	-	4	710	c.622C>G	c.(622-624)Cga>Gga	p.R208G	AMACR_ENST00000382068.3_Missense_Mutation_p.S154W|AMACR_ENST00000426255.2_Missense_Mutation_p.R208G|AMACR_ENST00000382072.2_Missense_Mutation_p.S154W|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S154W|AMACR_ENST00000502637.1_Missense_Mutation_p.R193G|AMACR_ENST00000512079.1_Missense_Mutation_p.R208G|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.R208G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	208					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TTCTGTCCTCGAGGTGCTTCC	0.433																																						uc003jig.2		NA																	0					0						c.(622-624)CGA>GGA		alpha-methylacyl-CoA racemase isoform 1							141.0	128.0	132.0					5																	33998863		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33998863G>C	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.622C>G	5.37:g.33998863G>C	ENSP00000334424:p.Arg208Gly					AMACR_uc003jih.2_Missense_Mutation_p.S154W|AMACR_uc003jii.2_Missense_Mutation_p.R193G|AMACR_uc003jij.2_Missense_Mutation_p.R208G|AMACR_uc003jil.1_Missense_Mutation_p.R208G|AMACR_uc003jik.1_Missense_Mutation_p.S154W	p.R208G	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			4	704	-			208					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.622C>G	CCDS3902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.98|13.98	2.397789|2.397789	0.42512|0.42512	.|.	.|.	ENSG00000242110|ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637|ENST00000382072;ENST00000441713	T;T;T|T;T	0.57595|0.66995	0.39;0.39;0.39|-0.19;-0.24	5.49|5.49	4.62|4.62	0.57501|0.57501	CoA-transferase family III domain (2);|.	0.121578|.	0.56097|.	D|.	0.000032|.	D|D	0.84183|0.84183	0.5416|0.5416	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	D;D;D;D|D;D	0.65815|0.76494	0.992;0.99;0.995;0.985|0.999;0.999	D;D;D;D|D;D	0.68483|0.68765	0.958;0.929;0.944;0.918|0.923;0.96	D|D	0.87858|0.87858	0.2662|0.2662	10|9	0.72032|0.72032	D|D	0.01|0.01	-5.8898|-5.8898	15.6348|15.6348	0.76944|0.76944	0.0:0.0:0.8613:0.1387|0.0:0.0:0.8613:0.1387	.|.	208;208;193;208|154;154	B3KMU8;F8W9N1;D6RB81;Q9UHK6|Q6VRU4;Q9UHK6-4	.;.;.;AMACR_HUMAN|.;.	G|W	208;208;193|154	ENSP00000334424:R208G;ENSP00000371517:R208G;ENSP00000424351:R193G|ENSP00000371504:S154W;ENSP00000403800:S154W	ENSP00000334424:R208G|ENSP00000371504:S154W	R|S	-|-	1|2	2|0	AMACR|AMACR	34034620|34034620	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.082000|0.082000	0.17680|0.17680	6.203000|6.203000	0.72137|0.72137	1.301000|1.301000	0.44836|0.44836	-0.319000|-0.319000	0.08680|0.08680	CGA|TCG		0.433	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		6	120	0	0	0	0	6	120				
MRPS30	10884	broad.mit.edu	37	5	44809264	44809264	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:44809264A>T	ENST00000507110.1	+	1	238	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	67					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAGCGCTGGCAGGCGACGGTG	0.637																																						uc003joh.2		NA																	0					0						c.(199-201)CAG>CTG		mitochondrial ribosomal protein S30							16.0	20.0	19.0					5																	44809264		2201	4298	6499	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809264A>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.200A>T	5.37:g.44809264A>T	ENSP00000424328:p.Gln67Leu					MRPS30_uc003joi.1_5'Flank	p.Q67L	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	238	+	Lung NSC(6;8.08e-07)		67					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.200A>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	A	8.495	0.862964	0.17178	.	.	ENSG00000112996	ENST00000507110	T	0.17528	2.27	5.44	5.44	0.79542	.	0.561897	0.19465	N	0.113607	T	0.15955	0.0384	L	0.41236	1.265	0.24673	N	0.993409	B	0.27013	0.166	B	0.28916	0.096	T	0.19712	-1.0297	10	0.11485	T	0.65	0.7696	15.6615	0.77190	1.0:0.0:0.0:0.0	.	67	Q9NP92	RT30_HUMAN	L	67	ENSP00000424328:Q67L	ENSP00000424328:Q67L	Q	+	2	0	MRPS30	44845021	0.999000	0.42202	1.000000	0.80357	0.364000	0.29643	4.627000	0.61276	2.282000	0.76494	0.533000	0.62120	CAG		0.637	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		12	34	0	0	0	0	12	34				
ACTBL2	345651	broad.mit.edu	37	5	56777772	56777772	+	Missense_Mutation	SNP	G	G	A	rs183478178	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:56777772G>A	ENST00000423391.1	-	1	864	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	255						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATCGGAAGCGTTCATTCCCA	0.532																																						uc003jrm.2		NA																	0				ovary(3)	3						c.(763-765)CGC>TGC		actin, beta-like 2							94.0	85.0	88.0					5																	56777772		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777772G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.763C>T	5.37:g.56777772G>A	ENSP00000416706:p.Arg255Cys						p.R255C	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	865	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	255					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.763C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133626	0.37630	.	.	ENSG00000169067	ENST00000423391	D	0.97303	-4.33	4.91	4.0	0.46444	.	0.000000	0.64402	D	0.000007	D	0.98785	0.9591	H	0.96662	3.86	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	D	0.98485	1.0607	10	0.87932	D	0	.	10.6779	0.45797	0.0:0.0:0.6888:0.3112	.	255	Q562R1	ACTBL_HUMAN	C	255	ENSP00000416706:R255C	ENSP00000416706:R255C	R	-	1	0	ACTBL2	56813529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.031000	0.30165	2.544000	0.85801	0.655000	0.94253	CGC		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		9	51	0	0	0	0	9	51				
HTR1A	3350	broad.mit.edu	37	5	63256301	63256301	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:63256301T>C	ENST00000323865.3	-	1	1479	c.1246A>G	c.(1246-1248)Aag>Gag	p.K416E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	416					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AACTTACACTTAATGATCTTC	0.498																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(1246-1248)AAG>GAG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						173.0	183.0	179.0					5																	63256301		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256301T>C	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1246A>G	5.37:g.63256301T>C	ENSP00000316244:p.Lys416Glu						p.K416E	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1246	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	416			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1246A>G	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	T	9.523	1.108833	0.20714	.	.	ENSG00000178394	ENST00000323865	T	0.38722	1.12	5.81	4.63	0.57726	.	0.210035	0.48286	D	0.000198	T	0.32793	0.0841	L	0.37850	1.14	0.58432	D	0.99999	B	0.24258	0.1	B	0.21151	0.033	T	0.05733	-1.0867	10	0.30854	T	0.27	.	12.4082	0.55451	0.0:0.0:0.1406:0.8594	.	416	P08908	5HT1A_HUMAN	E	416	ENSP00000316244:K416E	ENSP00000316244:K416E	K	-	1	0	HTR1A	63292057	1.000000	0.71417	0.944000	0.38274	0.024000	0.10985	6.253000	0.72453	0.998000	0.38996	0.528000	0.53228	AAG		0.498	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		31	247	0	0	0	0	31	247				
LYSMD3	116068	broad.mit.edu	37	5	89821073	89821073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:89821073G>A	ENST00000315948.6	-	2	178	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	LYSMD3_ENST00000509384.1_Missense_Mutation_p.L12F|LYSMD3_ENST00000500869.2_Missense_Mutation_p.L12F	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	12						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ACTCCTGGAAGAGGAAAACTA	0.403																																						uc003kjr.2		NA																	0					0						c.(34-36)CTT>TTT		LysM, putative peptidoglycan-binding, domain							86.0	79.0	81.0					5																	89821073		1875	4108	5983	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89821073G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.34C>T	5.37:g.89821073G>A	ENSP00000314518:p.Leu12Phe					LYSMD3_uc010jaz.1_Missense_Mutation_p.L12F|LYSMD3_uc003kjs.1_Missense_Mutation_p.L12F	p.L12F	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	2	182	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	12			Extracellular (Potential).		Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.34C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692104	0.30052	.	.	ENSG00000176018;ENSG00000176018;ENSG00000176018;ENSG00000259141	ENST00000500869;ENST00000315948;ENST00000509384;ENST00000554351	T	0.23147	1.92	6.02	2.87	0.33458	.	0.609786	0.17845	N	0.160079	T	0.13543	0.0328	N	0.15975	0.35	0.28636	N	0.907398	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.001	T	0.16660	-1.0395	10	0.18276	T	0.48	-8.7944	10.4362	0.44437	0.0783:0.2593:0.6624:0.0	.	12;12;12	Q7Z3D4-3;Q7Z3D4-2;Q7Z3D4	.;.;LYSM3_HUMAN	F	12	ENSP00000314518:L12F	ENSP00000314518:L12F	L	-	1	0	AC027323.1;LYSMD3	89856829	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	1.552000	0.36244	1.507000	0.48752	0.650000	0.86243	CTT		0.403	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		4	48	0	0	0	0	4	48				
GIN1	54826	broad.mit.edu	37	5	102442428	102442428	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:102442428T>G	ENST00000399004.2	-	3	419	c.325A>C	c.(325-327)Aaa>Caa	p.K109Q	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Missense_Mutation_p.K109Q	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	109					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ACCCACTGTTTGACATCATTG	0.353																																						uc003koa.1		NA																	0				ovary(1)|skin(1)	2						c.(325-327)AAA>CAA		zinc finger, H2C2 domain containing							84.0	77.0	79.0					5																	102442428		1837	4088	5925	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102442428T>G	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.325A>C	5.37:g.102442428T>G	ENSP00000381970:p.Lys109Gln					GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Missense_Mutation_p.K109Q	p.K109Q	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	407	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	109					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.325A>C	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315534	0.60524	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.31769	1.48;1.48	5.78	5.78	0.91487	Zinc finger, H2C2-type, histone UAS binding (1);	0.000000	0.64402	D	0.000004	T	0.35158	0.0922	N	0.08118	0	0.34486	D	0.704428	D;D	0.89917	0.963;1.0	P;D	0.91635	0.725;0.999	T	0.52426	-0.8577	10	0.37606	T	0.19	-7.103	14.672	0.68951	0.0:0.0:0.0:1.0	.	109;109	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	Q	109	ENSP00000381970:K109Q;ENSP00000427162:K109Q	ENSP00000381970:K109Q	K	-	1	0	GIN1	102470327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.208000	0.71279	0.454000	0.30748	AAA		0.353	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		4	27	0	0	0	0	4	27				
PJA2	9867	broad.mit.edu	37	5	108714181	108714181	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:108714181T>C	ENST00000361189.2	-	4	1246	c.1007A>G	c.(1006-1008)cAt>cGt	p.H336R	PJA2_ENST00000361557.3_Missense_Mutation_p.H336R|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	336					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTTCGCCTCATGCCTATTAAA	0.408																																						uc003kos.3		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)CAT>CGT		praja 2, RING-H2 motif containing							246.0	250.0	249.0					5																	108714181		2201	4300	6501	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714181T>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1007A>G	5.37:g.108714181T>C	ENSP00000354775:p.His336Arg						p.H336R	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	1227	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	336					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1007A>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044287	0.75732	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05319	3.46;3.46	5.61	5.61	0.85477	.	0.251039	0.35772	N	0.002983	T	0.09291	0.0229	L	0.51422	1.61	0.35655	D	0.812071	P	0.50710	0.938	B	0.40677	0.337	T	0.11494	-1.0585	10	0.66056	D	0.02	-19.5076	16.1025	0.81194	0.0:0.0:0.0:1.0	.	336	O43164	PJA2_HUMAN	R	336	ENSP00000354775:H336R;ENSP00000355284:H336R	ENSP00000354775:H336R	H	-	2	0	PJA2	108742080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.060000	0.49955	2.254000	0.74563	0.533000	0.62120	CAT		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		49	208	0	0	0	0	49	208				
KCNN2	3781	broad.mit.edu	37	5	113740539	113740539	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:113740539C>T	ENST00000512097.3	+	4	2005	c.987C>T	c.(985-987)gtC>gtT	p.V329V	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.V329V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	329					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CATGGACTGTCCGAGCTTGTG	0.348																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(985-987)GTC>GTT		small conductance calcium-activated potassium							127.0	127.0	127.0					5																	113740539		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740539C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.987C>T	5.37:g.113740539C>T							p.V329V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1444	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	329					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.987C>T	CCDS4114.1																																																																																				0.348	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		26	174	0	0	0	0	26	174				
PCDHA13	56136	broad.mit.edu	37	5	140263296	140263296	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1441-1443)GAC>GAT		protocadherin alpha 13 isoform 1 precursor							72.0	73.0	72.0					5																	140263296		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263296C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1443C>T	5.37:g.140263296C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D481D|PCDHA13_uc003lid.2_Silent_p.D481D	p.D481D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1443	+			481			Cadherin 5.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1443C>T	CCDS4240.1																																																																																				0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		34	137	0	0	0	0	34	137				
PCDHA13	56136	broad.mit.edu	37	5	140263844	140263844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:140263844C>T	ENST00000289272.2	+	1	1991	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T664M|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCAACGGTGCTGTTG	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1990-1992)ACG>ATG		protocadherin alpha 13 isoform 1 precursor							55.0	54.0	54.0					5																	140263844		2202	4298	6500	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263844C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1991C>T	5.37:g.140263844C>T	ENSP00000289272:p.Thr664Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T664M|PCDHA13_uc003lid.2_Missense_Mutation_p.T664M	p.T664M	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1991	+			664			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1991C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734705	0.30774	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.55588	0.51;0.51	3.97	3.97	0.46021	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76608	0.4011	M	0.91406	3.205	0.28914	N	0.892523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.982;0.998;0.992	T	0.71974	-0.4430	9	0.87932	D	0	.	11.5035	0.50451	0.1792:0.8208:0.0:0.0	.	664;664;664	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	664	ENSP00000386821:T664M;ENSP00000289272:T664M	ENSP00000289272:T664M	T	+	2	0	PCDHA13	140244028	0.009000	0.17119	0.852000	0.33557	0.108000	0.19459	1.864000	0.39469	2.025000	0.59659	0.655000	0.94253	ACG		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		26	111	0	0	0	0	26	111				
RBM27	54439	broad.mit.edu	37	5	145609363	145609363	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:145609363A>G	ENST00000265271.5	+	5	645	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	RBM27_ENST00000506502.1_Missense_Mutation_p.Y160C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	160	Arg-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGAGAAGTATGACTGGAGA	0.478																																						uc003lnz.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(478-480)TAT>TGT		RNA binding motif protein 27							159.0	154.0	156.0					5																	145609363		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145609363A>G	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.479A>G	5.37:g.145609363A>G	ENSP00000265271:p.Tyr160Cys					RBM27_uc003lny.2_Missense_Mutation_p.Y160C	p.Y160C	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	645	+			160			Arg-rich.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.479A>G	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654828	0.67472	.	.	ENSG00000091009	ENST00000265271	T	0.46819	0.86	5.54	5.54	0.83059	.	0.090057	0.48286	D	0.000196	T	0.52725	0.1752	L	0.48642	1.525	0.38724	D	0.953517	D;D	0.63046	0.983;0.992	P;P	0.54401	0.536;0.751	T	0.55509	-0.8130	10	0.38643	T	0.18	-8.6709	12.4503	0.55673	0.8507:0.1493:0.0:0.0	.	160;160	Q9P2N5;B3KY61	RBM27_HUMAN;.	C	160	ENSP00000265271:Y160C	ENSP00000265271:Y160C	Y	+	2	0	RBM27	145589556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.207000	0.65197	2.093000	0.63338	0.533000	0.62120	TAT		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		71	104	0	0	0	0	71	104				
EBF1	1879	broad.mit.edu	37	5	158140094	158140094	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:158140094T>A	ENST00000313708.6	-	13	1535	c.1253A>T	c.(1252-1254)cAc>cTc	p.H418L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.H410L|EBF1_ENST00000380654.4_Missense_Mutation_p.H387L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	418					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTTGGTTGTGGTTGCGGGG	0.562			T	HMGA2	lipoma																																	uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1252-1254)CAC>CTC		early B-cell factor							125.0	103.0	110.0					5																	158140094		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140094T>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1253A>T	5.37:g.158140094T>A	ENSP00000322898:p.His418Leu					EBF1_uc011ddw.1_Missense_Mutation_p.H286L|EBF1_uc011ddx.1_Missense_Mutation_p.H419L|EBF1_uc003lxl.3_Missense_Mutation_p.H387L	p.H418L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1555	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	418					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1253A>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.499109	0.85069	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46451	0.87;0.87;0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	L	0.60455	1.87	0.58432	D	0.999999	P;D;B;B	0.55800	0.555;0.973;0.124;0.337	B;D;B;B	0.64042	0.085;0.921;0.063;0.199	T	0.55049	-0.8201	10	0.33940	T	0.23	-6.5634	16.3483	0.83171	0.0:0.0:0.0:1.0	.	418;405;418;387	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	L	418;418;387;410	ENSP00000322898:H418L;ENSP00000370029:H387L;ENSP00000428020:H410L	ENSP00000322898:H418L	H	-	2	0	EBF1	158072672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	CAC		0.562	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		24	45	0	0	0	0	24	45				
GABRA1	2554	broad.mit.edu	37	5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr5:161324318C>T	ENST00000428797.2	+	11	1616	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_ENST00000393943.4_Nonsense_Mutation_p.R421*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.R421*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.R421*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.R421*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	421					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAAATTGACCGACTGTCAAG	0.443																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1261-1263)CGA>TGA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						151.0	150.0	150.0					5																	161324318		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324318C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1261C>T	5.37:g.161324318C>T	ENSP00000393097:p.Arg421*					GABRA1_uc010jix.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.2_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.R421*	p.R421*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1729	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	421			Cytoplasmic (Probable).		D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.1261C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054540	0.98032	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.32	4.44	0.53790	.	0.062197	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6781	0.77344	0.1382:0.8618:0.0:0.0	.	.	.	.	X	421	.	ENSP00000023897:R421X	R	+	1	2	GABRA1	161256896	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.534000	0.45676	1.354000	0.45846	0.563000	0.77884	CGA		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		48	172	0	0	0	0	48	172				
HIST1H4E	8367	broad.mit.edu	37	6	26205156	26205156	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:26205156G>A	ENST00000360441.4	+	1	299	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	95					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				AAGAGACAGGGACGCACTCTT	0.527																																						uc003ngy.2		NA																	0				ovary(1)	1						c.(283-285)GGA>GAA		histone cluster 1, H4e							123.0	107.0	112.0					6																	26205156		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205156G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.284G>A	6.37:g.26205156G>A	ENSP00000353624:p.Gly95Glu						p.G95E	NM_003545	NP_003536	P62805	H4_HUMAN			1	284	+		all_hematologic(11;0.196)	95					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.284G>A	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792873	0.50102	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.64091	0.2567	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.70835	-0.4764	6	0.87932	D	0	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	E	95	.	ENSP00000353624:G95E	G	+	2	0	HIST1H4E	26313135	1.000000	0.71417	0.732000	0.30844	0.014000	0.08584	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	GGA		0.527	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		16	60	0	0	0	0	16	60				
HLA-A	3105	broad.mit.edu	37	6	29911172	29911172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:29911172G>A	ENST00000396634.1	+	5	812	c.471G>A	c.(469-471)tgG>tgA	p.W157*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W157*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W157*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	157	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGCGCTCTTGGACCGCGGCGG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(469-471)TGG>TGA		major histocompatibility complex, class I, A							45.0	32.0	37.0					6																	29911172		1508	2707	4215	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911172G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.471G>A	6.37:g.29911172G>A	ENSP00000379873:p.Trp157*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Nonsense_Mutation_p.W36*|HLA-A_uc003nok.2_Nonsense_Mutation_p.W36*|HLA-A_uc003non.2_Nonsense_Mutation_p.W157*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W157*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W157*|HLA-A_uc003nom.2_Nonsense_Mutation_p.W36*|HLA-A_uc010klp.2_Nonsense_Mutation_p.W129*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.W36*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.W36*	p.W157*	NM_002116	NP_002107	P30443	1A01_HUMAN			3	471	+			157			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.471G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	37	6.631356	0.97718	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.78	2.89	0.33648	.	0.441597	0.16795	U	0.199223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6826	0.23129	0.0:0.1992:0.5956:0.2052	.	.	.	.	X	157	.	ENSP00000365998:W157X	W	+	3	0	HLA-A	30019151	0.969000	0.33509	0.949000	0.38748	0.515000	0.34225	1.486000	0.35530	0.906000	0.36621	0.485000	0.47835	TGG		0.672	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		9	32	0	0	0	0	9	32				
TNXB	7148	broad.mit.edu	37	6	32029356	32029356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:32029356C>A	ENST00000375244.3	-	21	7511	c.7310G>T	c.(7309-7311)cGc>cTc	p.R2437L	TNXB_ENST00000375247.2_Missense_Mutation_p.R2437L			P22105	TENX_HUMAN	tenascin XB	2497	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAGTCGAAGCGGCCCTGGGG	0.701																																						uc003nzl.2		NA																	0					0						c.(7309-7311)CGC>CTC		tenascin XB isoform 1 precursor							42.0	47.0	46.0					6																	32029356		1145	2469	3614	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029356C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7310G>T	6.37:g.32029356C>A	ENSP00000364393:p.Arg2437Leu						p.R2437L	NM_019105	NP_061978	P22105	TENX_HUMAN			21	7512	-			2497			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7310G>T		.	.	.	.	.	.	.	.	.	.	c	0.780	-0.762569	0.02996	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57107	0.42;0.42	4.18	-4.78	0.03209	.	0.795454	0.11542	N	0.553620	T	0.25269	0.0614	L	0.55481	1.735	0.09310	N	1	P	0.37061	0.58	B	0.39299	0.296	T	0.18840	-1.0324	10	0.28530	T	0.3	.	12.2479	0.54581	0.0:0.3742:0.0:0.6258	.	2437	P22105-3	.	L	2437	ENSP00000364393:R2437L;ENSP00000364396:R2437L	ENSP00000364393:R2437L	R	-	2	0	TNXB	32137334	0.000000	0.05858	0.024000	0.17045	0.065000	0.16274	-1.344000	0.02639	-1.600000	0.01603	-3.870000	0.00017	CGC		0.701	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	71	1	0	0.00198382	0.00835786	5	71				
IP6K3	117283	broad.mit.edu	37	6	33703227	33703227	+	Silent	SNP	G	G	A	rs150212654		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:33703227G>A	ENST00000293756.4	-	2	353	c.27C>T	c.(25-27)gcC>gcT	p.A9A	IP6K3_ENST00000451316.1_Silent_p.A9A	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	9					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						TCATGTCCCCGGCGTCTGCGC	0.617																																						uc010jvf.2		NA																	0					0						c.(25-27)GCC>GCT		inositol hexakisphosphate kinase 3		G	,	0,4406		0,0,2203	50.0	38.0	42.0		27,27	-6.5	0.0	6	dbSNP_134	42	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	9/411,9/411	33703227	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33703227G>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.27C>T	6.37:g.33703227G>A						IP6K3_uc003ofb.2_Silent_p.A9A	p.A9A	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			3	563	-			9					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.27C>T	CCDS34435.1																																																																																				0.617	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		6	42	0	0	0	0	6	42				
DOPEY1	23033	broad.mit.edu	37	6	83835435	83835435	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:83835435G>A	ENST00000349129.2	+	15	1962	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E559K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E549K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	568					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTCAAAGAGTGGGAAGA	0.368																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1702-1704)GAG>AAG		dopey family member 1							67.0	62.0	63.0					6																	83835435		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83835435G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1702G>A	6.37:g.83835435G>A	ENSP00000195654:p.Glu568Lys					DOPEY1_uc011dyy.1_Missense_Mutation_p.E559K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E559K	p.E568K	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	15	1962	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	568					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1702G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	7.899	0.734048	0.15574	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.22743	1.95;1.94	5.26	5.26	0.73747	.	0.207505	0.43416	D	0.000565	T	0.09069	0.0224	L	0.51422	1.61	0.80722	D	1	B;B;P	0.36222	0.166;0.031;0.544	B;B;B	0.30943	0.017;0.006;0.122	T	0.05115	-1.0905	10	0.10111	T	0.7	.	17.0451	0.86500	0.0:0.0:1.0:0.0	.	455;559;568	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	568;549;549	ENSP00000195654:E568K;ENSP00000237163:E549K	ENSP00000237163:E549K	E	+	1	0	DOPEY1	83892154	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.379000	0.73154	2.456000	0.83038	0.305000	0.20034	GAG		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	58	0	0	0	0	9	58				
METTL24	728464	broad.mit.edu	37	6	110636640	110636640	+	Silent	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:110636640A>G	ENST00000338882.4	-	3	461	c.462T>C	c.(460-462)tcT>tcC	p.S154S		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	154						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										GTGTAGGACTAGAGTCAGTAG	0.433																																						uc010kdu.1		NA																	0					0						c.(460-462)TCT>TCC		chromosome 6 open reading frame 186 precursor							151.0	130.0	137.0					6																	110636640		1568	3582	5150	SO:0001819	synonymous_variant	728464					extracellular region		g.chr6:110636640A>G		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.462T>C	6.37:g.110636640A>G						C6orf186_uc003pub.2_Intron	p.S154S	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			3	462	-			154					Q6ZSU5	Silent	SNP	ENST00000338882.4	37	c.462T>C	CCDS43489.1																																																																																				0.433	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		13	85	0	0	0	0	13	85				
REV3L	5980	broad.mit.edu	37	6	111697876	111697876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:111697876T>C	ENST00000358835.3	-	14	2136	c.1682A>G	c.(1681-1683)cAc>cGc	p.H561R	REV3L_ENST00000435970.1_Missense_Mutation_p.H483R|REV3L_ENST00000368802.3_Missense_Mutation_p.H561R|REV3L_ENST00000368805.1_Missense_Mutation_p.H561R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	561					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCATCTTTGTGAAAGATGGA	0.393								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1681-1683)CAC>CGC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							114.0	113.0	113.0					6																	111697876		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697876T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1682A>G	6.37:g.111697876T>C	ENSP00000351697:p.His561Arg					REV3L_uc003pux.3_Missense_Mutation_p.H483R|REV3L_uc003puz.3_Missense_Mutation_p.H483R	p.H561R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2005	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	561					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1682A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987981	0.35036	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01527	4.89;4.89;4.89;4.8	5.39	4.21	0.49690	Ribonuclease H-like (1);	0.307119	0.32357	N	0.006214	T	0.00524	0.0017	L	0.27053	0.805	0.27794	N	0.942703	P	0.49961	0.93	B	0.37650	0.255	T	0.53265	-0.8463	10	0.16420	T	0.52	-17.0898	11.6564	0.51320	0.133:0.0:0.0:0.867	.	561	O60673	DPOLZ_HUMAN	R	561;561;561;483	ENSP00000357792:H561R;ENSP00000357795:H561R;ENSP00000351697:H561R;ENSP00000402003:H483R	ENSP00000351697:H561R	H	-	2	0	REV3L	111804569	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.214000	0.58527	0.861000	0.35504	0.383000	0.25322	CAC		0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		8	110	0	0	0	0	8	110				
KATNA1	11104	broad.mit.edu	37	6	149944272	149944272	+	Silent	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:149944272T>C	ENST00000335647.5	-	3	512	c.468A>G	c.(466-468)gaA>gaG	p.E156E	KATNA1_ENST00000335643.8_Silent_p.E156E|KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000367411.2_Silent_p.E156E					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GTTCTTTCTTTTCACGACAAC	0.343																																						uc003qmr.1		NA																	0				skin(1)	1						c.(466-468)GAA>GAG		katanin p60 subunit A 1							153.0	125.0	134.0					6																	149944272		2203	4300	6503	SO:0001819	synonymous_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149944272T>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.468A>G	6.37:g.149944272T>C						KATNA1_uc003qms.2_Silent_p.E156E|KATNA1_uc003qmt.2_Silent_p.E156E|KATNA1_uc011eed.1_Silent_p.E156E	p.E156E	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	3	513	-		Ovarian(120;0.0164)	156			Interaction with microtubule.			Silent	SNP	ENST00000335647.5	37	c.468A>G	CCDS5217.1																																																																																				0.343	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		8	55	0	0	0	0	8	55				
MAP3K4	4216	broad.mit.edu	37	6	161530868	161530868	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:161530868A>G	ENST00000392142.4	+	23	4466	c.4318A>G	c.(4318-4320)Att>Gtt	p.I1440V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1386V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1390V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1436V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1440	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGAACATGTGATTAGGCTGTA	0.488																																						uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(4318-4320)ATT>GTT		mitogen-activated protein kinase kinase kinase 4							177.0	150.0	159.0					6																	161530868		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530868A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4318A>G	6.37:g.161530868A>G	ENSP00000375986:p.Ile1440Val					MAP3K4_uc010kkc.1_Missense_Mutation_p.I1436V|MAP3K4_uc003qto.2_Missense_Mutation_p.I1390V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.I893V|MAP3K4_uc003qtp.2_Missense_Mutation_p.I376V|MAP3K4_uc003qtq.2_Missense_Mutation_p.I129V	p.I1440V	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4460	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1440			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4318A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787872	0.49997	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	N	0.16656	0.425	0.58432	D	0.999999	B;B;D;D	0.71674	0.302;0.374;0.993;0.998	B;B;D;D	0.80764	0.213;0.097;0.984;0.994	T	0.57312	-0.7833	10	0.18710	T	0.47	-24.289	13.3104	0.60376	1.0:0.0:0.0:0.0	.	1436;376;1390;1440	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	V	1390;1440;1390;1436;1386	ENSP00000355886:I1390V;ENSP00000375986:I1440V;ENSP00000355887:I1436V;ENSP00000297332:I1386V	ENSP00000297332:I1386V	I	+	1	0	MAP3K4	161450858	1.000000	0.71417	0.987000	0.45799	0.625000	0.37756	9.262000	0.95591	1.884000	0.54569	0.533000	0.62120	ATT		0.488	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			25	88	0	0	0	0	25	88				
ERMARD	55780	broad.mit.edu	37	6	170176742	170176742	+	Missense_Mutation	SNP	G	G	T	rs371767163		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:170176742G>T	ENST00000366773.3	+	16	1745	c.1712G>T	c.(1711-1713)cGg>cTg	p.R571L	ERMARD_ENST00000366772.2_Intron|ERMARD_ENST00000392095.4_Missense_Mutation_p.R445L|ERMARD_ENST00000588451.1_Missense_Mutation_p.R435L|ERMARD_ENST00000418781.3_Intron	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	571					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TCTCGCCAGCGGCAGAACTAC	0.597																																						uc003qxg.1		NA																	0				ovary(1)	1						c.(1711-1713)CGG>CTG		hypothetical protein LOC55780							80.0	73.0	75.0					6																	170176742		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170176742G>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1712G>T	6.37:g.170176742G>T	ENSP00000355735:p.Arg571Leu					C6orf70_uc011ehb.1_Missense_Mutation_p.R445L|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.R219L	p.R571L	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	16	1745	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	571					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1712G>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415500	0.83449	.	.	ENSG00000130023	ENST00000366773;ENST00000392095;ENST00000366771	T;T	0.73469	-0.74;-0.75	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	D	0.85208	0.5644	M	0.79475	2.455	0.40124	D	0.976631	D	0.89917	1.0	D	0.85130	0.997	D	0.86281	0.1667	10	0.72032	D	0.01	.	19.1519	0.93493	0.0:0.0:1.0:0.0	.	571	Q5T6L9	CF070_HUMAN	L	571;445;219	ENSP00000355735:R571L;ENSP00000375945:R445L	ENSP00000355733:R219L	R	+	2	0	C6orf70	169918667	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.839000	0.69395	2.694000	0.91930	0.558000	0.71614	CGG		0.597	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		11	47	1	0	2.81e-09	1.28e-08	11	47				
NOD1	10392	broad.mit.edu	37	7	30486644	30486644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:30486644C>T	ENST00000222823.4	-	8	2833	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	770					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCTCCGACATCGGTGATCTGG	0.448																																						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(2308-2310)GAT>AAT		nucleotide-binding oligomerization domain							182.0	162.0	169.0					7																	30486644		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30486644C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2308G>A	7.37:g.30486644C>T	ENSP00000222823:p.Asp770Asn						p.D770N	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			8	2831	-			770			LRR 4.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2308G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063195	0.76187	.	.	ENSG00000106100	ENST00000222823	T	0.58060	0.36	5.95	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.63843	1.955	0.80722	D	1	D	0.62365	0.991	B	0.41174	0.349	T	0.60535	-0.7244	10	0.87932	D	0	.	14.6808	0.69015	0.0:0.9296:0.0:0.0704	.	770	Q9Y239	NOD1_HUMAN	N	770	ENSP00000222823:D770N	ENSP00000222823:D770N	D	-	1	0	NOD1	30453169	1.000000	0.71417	0.798000	0.32154	0.995000	0.86356	5.345000	0.65987	2.824000	0.97209	0.655000	0.94253	GAT		0.448	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			30	147	0	0	0	0	30	147				
ABCA13	154664	broad.mit.edu	37	7	48314127	48314127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:48314127C>T	ENST00000435803.1	+	17	4888	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1622					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						AATAATTTCACCTGAAATAAT	0.378																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4864-4866)CCT>TCT		ATP binding cassette, sub-family A (ABC1),							152.0	152.0	152.0					7																	48314127		1845	4084	5929	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314127C>T	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.4864C>T	7.37:g.48314127C>T	ENSP00000411096:p.Pro1622Ser					ABCA13_uc010kyr.2_Missense_Mutation_p.P1125S	p.P1622S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4889	+			1622					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4864C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238360	0.10023	.	.	ENSG00000179869	ENST00000435803	D	0.84873	-1.91	5.43	3.56	0.40772	.	0.741044	0.11989	N	0.510024	T	0.76190	0.3953	L	0.29908	0.895	0.09310	N	0.999993	B	0.14012	0.009	B	0.14023	0.01	T	0.59542	-0.7435	9	.	.	.	.	9.9113	0.41408	0.1576:0.691:0.1515:0.0	.	1622	Q86UQ4	ABCAD_HUMAN	S	1622	ENSP00000411096:P1622S	.	P	+	1	0	ABCA13	48284673	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.028000	0.13644	0.623000	0.30267	0.563000	0.77884	CCT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		26	218	0	0	0	0	26	218				
EGFR	1956	broad.mit.edu	37	7	55242489	55242489	+	Silent	SNP	G	G	A	rs121913463|rs397517100|rs397517099		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:55242489G>A	ENST00000275493.2	+	19	2436	c.2259G>A	c.(2257-2259)ccG>ccA	p.P753P	EGFR_ENST00000455089.1_Silent_p.P708P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P700P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACATCTCCGAAAGCCAACA	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		40	Deletion - In frame(21)|Complex - deletion inframe(17)|Substitution - coding silent(2)	p.L747_P753>S(166)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.S752_I759del(15)|p.T751_I759>N(8)|p.E746_P753>VS(6)|p.P753S(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.T751_E758>A(1)|p.E746_P753>VQ(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.P753F(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.L747_N756>SKDD(1)|p.E749_P753>Q(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.P753P(1)|p.R748_P753del(1)|p.E746_P753>LS(1)	lung(37)|breast(2)|oesophagus(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2257-2259)CCG>CCA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						100.0	96.0	97.0					7																	55242489		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242489G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2259G>A	7.37:g.55242489G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Silent_p.P708P|EGFR_uc011kco.1_Silent_p.P700P	p.P753P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2505	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		753		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2259G>A	CCDS5514.1																																																																																				0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	70	0	0	0	0	7	70				
CALN1	83698	broad.mit.edu	37	7	71252883	71252883	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:71252883A>C	ENST00000329008.5	-	6	835	c.537T>G	c.(535-537)caT>caG	p.H179Q	CALN1_ENST00000412588.1_Missense_Mutation_p.H221Q|CALN1_ENST00000395275.2_Missense_Mutation_p.H221Q|CALN1_ENST00000431984.1_Missense_Mutation_p.H179Q|CALN1_ENST00000405452.2_Missense_Mutation_p.H179Q|CALN1_ENST00000395276.2_Missense_Mutation_p.H179Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTTCTGGGAATGCACTGGTG	0.512																																						uc003twa.3		NA																	0				skin(1)	1						c.(535-537)CAT>CAG		calneuron 1 isoform 2							109.0	88.0	96.0					7																	71252883		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252883A>C	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.537T>G	7.37:g.71252883A>C	ENSP00000332498:p.His179Gln					CALN1_uc003twb.3_Missense_Mutation_p.H221Q|CALN1_uc003twc.3_Missense_Mutation_p.H179Q	p.H179Q	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1064	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	179			Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.537T>G	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.161838	0.57368	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.70282	-0.34;-0.47;-0.34;-0.34;-0.47;-0.34	5.12	-1.89	0.07689	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	N	0.14661	0.345	0.34815	D	0.738136	P;P	0.45531	0.86;0.86	B;B	0.35813	0.211;0.211	T	0.54814	-0.8237	10	0.52906	T	0.07	-31.8749	11.5553	0.50743	0.542:0.0:0.458:0.0	.	179;179	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	179;221;179;179;221;179	ENSP00000332498:H179Q;ENSP00000378690:H221Q;ENSP00000378691:H179Q;ENSP00000410704:H179Q;ENSP00000391882:H221Q;ENSP00000384354:H179Q	ENSP00000332498:H179Q	H	-	3	2	CALN1	70890819	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	0.749000	0.26320	-0.333000	0.08476	-0.366000	0.07423	CAT		0.512	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		20	42	0	0	0	0	20	42				
PPP1R9A	55607	broad.mit.edu	37	7	94750101	94750101	+	Missense_Mutation	SNP	G	G	A	rs554730923		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:94750101G>A	ENST00000433881.1	+	4	2138	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.V536I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.V536I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.V536I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.V536I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	536	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGAATATTCGTCAAGACAGT	0.393										HNSCC(28;0.073)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18306	0.0		0.001	False		,,,				2504	0.0					uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1606-1608)GTC>ATC		protein phosphatase 1, regulatory (inhibitor)							158.0	152.0	154.0					7																	94750101		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94750101G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1606G>A	7.37:g.94750101G>A	ENSP00000398870:p.Val536Ile	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.V536I|PPP1R9A_uc011kif.1_Missense_Mutation_p.V536I|PPP1R9A_uc003unq.2_Missense_Mutation_p.V536I|PPP1R9A_uc011kig.1_Missense_Mutation_p.V536I	p.V536I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	1888	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		536			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1606G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549187	0.86127	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.46	4.46	0.54185	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	N	0.17631	0.505	0.80722	D	1	P;D;P;P;P	0.55385	0.896;0.971;0.941;0.929;0.896	P;D;D;P;D	0.68765	0.896;0.935;0.935;0.751;0.96	T	0.53885	-0.8375	10	0.52906	T	0.07	.	18.4372	0.90650	0.0:0.0:1.0:0.0	.	536;536;536;536;536	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	536	ENSP00000405514:V536I;ENSP00000344524:V536I;ENSP00000411342:V536I;ENSP00000398870:V536I;ENSP00000289495:V536I;ENSP00000402893:V536I	ENSP00000289495:V536I	V	+	1	0	PPP1R9A	94588037	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.793000	0.85851	2.773000	0.95371	0.655000	0.94253	GTC		0.393	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		35	98	0	0	0	0	35	98				
SLC12A9	56996	broad.mit.edu	37	7	100463759	100463759	+	Silent	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:100463759C>A	ENST00000354161.3	+	14	2402	c.2277C>A	c.(2275-2277)ccC>ccA	p.P759P	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	759					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGGTGCCCGCTTGGCATA	0.706																																						uc003uwp.2		NA																	0					0						c.(2275-2277)CCC>CCA		solute carrier family 12 (potassium/chloride							44.0	54.0	50.0					7																	100463759		2197	4288	6485	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463759C>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2277C>A	7.37:g.100463759C>A						SLC12A9_uc011kki.1_Silent_p.P290P|SLC12A9_uc003uwr.2_Silent_p.P495P|SLC12A9_uc003uws.2_Silent_p.P290P|SLC12A9_uc003uwt.2_Silent_p.P495P|SLC12A9_uc003uwv.2_Silent_p.P290P|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	p.P759P	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			14	2419	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		759			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.2277C>A	CCDS5707.1																																																																																				0.706	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	120	1	0	0.00116845	0.00493729	5	120				
RELN	5649	broad.mit.edu	37	7	103183184	103183184	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103183184T>C	ENST00000428762.1	-	43	6824	c.6665A>G	c.(6664-6666)cAt>cGt	p.H2222R	RELN_ENST00000343529.5_Missense_Mutation_p.H2222R|RELN_ENST00000424685.2_Missense_Mutation_p.H2222R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2222					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTACCTAGCATGTGATAAATC	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6664-6666)CAT>CGT		reelin isoform a							108.0	103.0	104.0					7																	103183184		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103183184T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6665A>G	7.37:g.103183184T>C	ENSP00000392423:p.His2222Arg					RELN_uc010liz.2_Missense_Mutation_p.H2222R	p.H2222R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	43	6825	-			2222					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6665A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	7.498	0.652134	0.14580	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21191	2.02;2.02;2.02	5.93	5.93	0.95920	Neuraminidase (1);	0.392473	0.29424	N	0.012184	T	0.10121	0.0248	N	0.04508	-0.205	0.31360	N	0.681494	B;B	0.09022	0.001;0.002	B;B	0.17433	0.018;0.012	T	0.17289	-1.0374	10	0.17369	T	0.5	.	11.4668	0.50243	0.1342:0.0:0.0:0.8658	.	2222;2222	P78509-2;P78509	.;RELN_HUMAN	R	2222	ENSP00000392423:H2222R;ENSP00000345694:H2222R;ENSP00000388446:H2222R	ENSP00000345694:H2222R	H	-	2	0	RELN	102970420	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.506000	0.60428	2.270000	0.75569	0.482000	0.46254	CAT		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	58	0	0	0	0	8	58				
RELN	5649	broad.mit.edu	37	7	103270583	103270583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:103270583C>A	ENST00000428762.1	-	20	2665	c.2506G>T	c.(2506-2508)Gga>Tga	p.G836*	RELN_ENST00000343529.5_Nonsense_Mutation_p.G836*|RELN_ENST00000424685.2_Nonsense_Mutation_p.G836*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	836					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAATTCCAAACTGCTTT	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2506-2508)GGA>TGA		reelin isoform a							110.0	111.0	110.0					7																	103270583		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103270583C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2506G>T	7.37:g.103270583C>A	ENSP00000392423:p.Gly836*					RELN_uc010liz.2_Nonsense_Mutation_p.G836*	p.G836*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	20	2666	-			836					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.2506G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	45	11.578026	0.99578	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	836	.	ENSP00000345694:G836X	G	-	1	0	RELN	103057819	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.030000	0.76484	2.894000	0.99253	0.591000	0.81541	GGA		0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	72	1	0	0.000157383	0.000681197	7	72				
DNAJB9	4189	broad.mit.edu	37	7	108213733	108213733	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:108213733G>A	ENST00000249356.3	+	3	1154	c.608G>A	c.(607-609)tGc>tAc	p.C203Y	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	203					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						AGCAAGCACTGCAGGACTGTC	0.373																																						uc003vfn.2		NA																	0					0						c.(607-609)TGC>TAC		DnaJ (Hsp40) homolog, subfamily B, member 9							110.0	109.0	109.0					7																	108213733		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213733G>A	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.608G>A	7.37:g.108213733G>A	ENSP00000249356:p.Cys203Tyr						p.C203Y	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			3	810	+			203						Missense_Mutation	SNP	ENST00000249356.3	37	c.608G>A	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107576	0.77096	.	.	ENSG00000128590	ENST00000249356	T	0.61392	0.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.76891	0.4051	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75377	-0.3339	9	.	.	.	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	203	Q9UBS3	DNJB9_HUMAN	Y	203	ENSP00000249356:C203Y	.	C	+	2	0	DNAJB9	108000969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.333000	0.96459	2.776000	0.95493	0.655000	0.94253	TGC		0.373	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			18	60	0	0	0	0	18	60				
TBXAS1	6916	broad.mit.edu	37	7	139575421	139575421	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:139575421A>G	ENST00000455353.1	+	3	358	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	TBXAS1_ENST00000448866.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000411653.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000414508.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.Y75C|TBXAS1_ENST00000436047.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000263552.6_Missense_Mutation_p.Y75C|TBXAS1_ENST00000458722.1_Missense_Mutation_p.Y74C|TBXAS1_ENST00000425687.1_Missense_Mutation_p.Y7C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.Y75C|TBXAS1_ENST00000336425.5_Missense_Mutation_p.Y74C			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	74					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGAAAGCTGTATGGACCTCTG	0.338																																						uc011kqv.1		NA																	0				ovary(2)|breast(1)	3						c.(223-225)TAT>TGT		thromboxane A synthase 1, platelet isoform							154.0	154.0	154.0					7																	139575421		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139575421A>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.221A>G	7.37:g.139575421A>G	ENSP00000391567:p.Tyr74Cys					TBXAS1_uc003vvh.2_Missense_Mutation_p.Y75C|TBXAS1_uc010lne.2_Missense_Mutation_p.Y7C|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.Y75C|TBXAS1_uc003vvj.2_Missense_Mutation_p.Y75C|TBXAS1_uc011kqw.1_Silent_p.V45V|TBXAS1_uc011kqx.1_Missense_Mutation_p.Y75C	p.Y75C	NM_001130966	NP_001124438	P24557	THAS_HUMAN			3	388	+	Melanoma(164;0.0142)		74			Lumenal (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.224A>G		.	.	.	.	.	.	.	.	.	.	A	10.16	1.273875	0.23221	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.32	2.84	0.33178	.	0.130221	0.53938	D	0.000059	D	0.85256	0.5655	M	0.87971	2.92	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.971;0.999;0.999	D;D;D;D;D;D	0.87578	0.998;0.975;0.998;0.944;0.994;0.994	T	0.75991	-0.3122	10	0.87932	D	0	.	7.8692	0.29556	0.6678:0.0:0.0:0.3322	.	75;75;7;75;75;74	B7Z6W1;E7EP08;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	C	7;75;74;74;75;75;75;74;74;74;74;75	ENSP00000388736:Y7C;ENSP00000263552:Y75C;ENSP00000388612:Y74C;ENSP00000338087:Y74C;ENSP00000389414:Y75C;ENSP00000392361:Y75C;ENSP00000392702:Y75C;ENSP00000402536:Y74C;ENSP00000391567:Y74C;ENSP00000411274:Y74C;ENSP00000411326:Y74C;ENSP00000444626:Y75C	ENSP00000263552:Y75C	Y	+	2	0	TBXAS1	139221890	0.710000	0.27896	0.017000	0.16124	0.112000	0.19704	3.328000	0.52052	0.295000	0.22570	0.528000	0.53228	TAT		0.338	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			3	52	0	0	0	0	3	52				
PRKDC	5591	broad.mit.edu	37	8	48794645	48794645	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:48794645A>G	ENST00000314191.2	-	38	4843	c.4787T>C	c.(4786-4788)tTg>tCg	p.L1596S	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1596S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1597					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)			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)	CATGCCGTTCAAAACGGCACT	0.393								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4789-4791)TTG>TCG	NHEJ	protein kinase, DNA-activated, catalytic							124.0	115.0	118.0					8																	48794645		1880	4116	5996	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.chr8:48794645A>G		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.4787T>C	8.37:g.48794645A>G	ENSP00000313420:p.Leu1596Ser					PRKDC_uc003xqj.2_Missense_Mutation_p.L1597S|PRKDC_uc011ldh.1_Intron	p.L1597S	NM_006904	NP_008835	P78527	PRKDC_HUMAN			38	4847	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1597					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4790T>C		.	.	.	.	.	.	.	.	.	.	A	15.98	2.992589	0.54041	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.04049	3.79;3.72	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.21631	0.0521	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	T	0.00406	-1.1759	10	0.72032	D	0.01	.	15.2084	0.73198	1.0:0.0:0.0:0.0	.	1596;1597	E7EUY0;P78527	.;PRKDC_HUMAN	S	1596	ENSP00000313420:L1596S;ENSP00000345182:L1596S	ENSP00000313420:L1596S	L	-	2	0	PRKDC	48957198	1.000000	0.71417	0.987000	0.45799	0.078000	0.17371	8.594000	0.90836	2.011000	0.59026	0.377000	0.23210	TTG		0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		56	110	0	0	0	0	56	110				
RNF19A	25897	broad.mit.edu	37	8	101273978	101273978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:101273978T>C	ENST00000519449.1	-	9	1790	c.1474A>G	c.(1474-1476)Aca>Gca	p.T492A	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.T492A	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	492					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCTACTGATGTTGTGTCTAAA	0.403																																						uc003yjj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1474-1476)ACA>GCA		ring finger protein 19							162.0	135.0	144.0					8																	101273978		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101273978T>C	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1474A>G	8.37:g.101273978T>C	ENSP00000428968:p.Thr492Ala					RNF19A_uc003yjk.1_Missense_Mutation_p.T492A	p.T492A	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		9	1791	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		492					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1474A>G	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917833	0.73098	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.83335	-1.71;-1.71	5.34	5.34	0.76211	.	0.093027	0.85682	D	0.000000	T	0.75925	0.3916	L	0.41236	1.265	0.80722	D	1	P	0.51351	0.944	B	0.44315	0.446	T	0.75127	-0.3427	10	0.05436	T	0.98	.	14.9917	0.71393	0.0:0.0:0.0:1.0	.	492	Q9NV58	RN19A_HUMAN	A	492	ENSP00000428968:T492A;ENSP00000342667:T492A	ENSP00000342667:T492A	T	-	1	0	RNF19A	101343154	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.289000	0.72696	2.033000	0.60031	0.482000	0.46254	ACA		0.403	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		110	72	0	0	0	0	110	72				
PKHD1L1	93035	broad.mit.edu	37	8	110476615	110476615	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:110476615A>G	ENST00000378402.5	+	49	7658	c.7554A>G	c.(7552-7554)atA>atG	p.I2518M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2518					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAATATTATATATGATATTA	0.363										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7552-7554)ATA>ATG		fibrocystin L precursor							63.0	60.0	61.0					8																	110476615		1823	4082	5905	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476615A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7554A>G	8.37:g.110476615A>G	ENSP00000367655:p.Ile2518Met	HNSCC(38;0.096)					p.I2518M	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7658	+			2518			PbH1 1.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7554A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874619	0.51695	.	.	ENSG00000205038	ENST00000378402	D	0.93712	-3.27	5.44	-4.59	0.03400	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	L	0.56769	1.78	0.25315	N	0.989169	P	0.46656	0.882	P	0.52159	0.691	D	0.86304	0.1682	10	0.59425	D	0.04	.	7.5522	0.27804	0.31:0.4767:0.0:0.2132	.	2518	Q86WI1	PKHL1_HUMAN	M	2518	ENSP00000367655:I2518M	ENSP00000367655:I2518M	I	+	3	3	PKHD1L1	110545791	0.839000	0.29477	0.987000	0.45799	0.992000	0.81027	-0.117000	0.10708	-0.626000	0.05596	0.533000	0.62120	ATA		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	27	0	0	0	0	23	27				
KCNQ3	3786	broad.mit.edu	37	8	133142023	133142023	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:133142023A>C	ENST00000388996.4	-	15	2525	c.2105T>G	c.(2104-2106)gTg>gGg	p.V702G	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V690G|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V582G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCAATGGTCACCTGGTGGAA	0.532																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2104-2106)GTG>GGG		potassium voltage-gated channel KQT-like protein							68.0	64.0	65.0					8																	133142023		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142023A>C	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2105T>G	8.37:g.133142023A>C	ENSP00000373648:p.Val702Gly					KCNQ3_uc010mdt.2_Missense_Mutation_p.V690G	p.V702G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2330	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		702					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2105T>G	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541823	0.65198	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99129	-5.45;-5.4;-5.46	5.63	5.63	0.86233	.	0.376502	0.28577	N	0.014850	D	0.95818	0.8639	N	0.08118	0	0.80722	D	1	P;P	0.42039	0.769;0.769	B;B	0.41299	0.353;0.353	D	0.96020	0.9008	10	0.22706	T	0.39	-16.9999	15.068	0.72011	1.0:0.0:0.0:0.0	.	690;702	E7ET42;O43525	.;KCNQ3_HUMAN	G	702;582;690;679;581	ENSP00000373648:V702G;ENSP00000429799:V582G;ENSP00000428790:V690G	ENSP00000373648:V702G	V	-	2	0	KCNQ3	133211205	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	8.346000	0.90060	2.157000	0.67596	0.524000	0.50904	GTG		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		8	148	0	0	0	0	8	148				
TG	7038	broad.mit.edu	37	8	134030138	134030138	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:134030138C>T	ENST00000220616.4	+	38	6718	c.6678C>T	c.(6676-6678)gaC>gaT	p.D2226D	TG_ENST00000519543.1_Silent_p.D359D|TG_ENST00000542445.1_Silent_p.D596D|TG_ENST00000377869.1_Silent_p.D2169D|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2226					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGTGGACCAGTTCCTTG	0.617																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(6676-6678)GAC>GAT		thyroglobulin precursor							74.0	70.0	71.0					8																	134030138		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134030138C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6678C>T	8.37:g.134030138C>T						TG_uc010mdw.2_Silent_p.D985D|TG_uc011ljb.1_Silent_p.D595D|TG_uc011ljc.1_Silent_p.D359D	p.D2226D	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	38	6719	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2226					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.6678C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279725	0.23392	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.4	2.5	0.30297	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46133	-0.9213	4	.	.	.	.	7.5283	0.27668	0.0:0.7178:0.0:0.2822	.	.	.	.	S	682	.	.	P	+	1	0	TG	134099320	0.100000	0.21855	1.000000	0.80357	0.990000	0.78478	-0.074000	0.11450	0.343000	0.23821	0.561000	0.74099	CCA		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		79	104	0	0	0	0	79	104				
GPR20	2843	broad.mit.edu	37	8	142367504	142367504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr8:142367504C>T	ENST00000377741.3	-	2	610	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	174					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCAGCCACACGAAGGCGCAC	0.711																																						uc003ywf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(520-522)GTG>ATG		G protein-coupled receptor 20							6.0	9.0	8.0					8																	142367504		2114	4093	6207	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367504C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.520G>A	8.37:g.142367504C>T	ENSP00000366970:p.Val174Met						p.V174M	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	609	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		174			Helical; Name=4; (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.520G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130308	0.56721	.	.	ENSG00000204882	ENST00000377741	T	0.75154	-0.91	4.52	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.154014	0.42964	D	0.000633	T	0.80470	0.4629	M	0.73319	2.225	0.36081	D	0.842799	D	0.89917	1.0	D	0.73708	0.981	T	0.82967	-0.0194	10	0.62326	D	0.03	-24.4156	3.2454	0.06796	0.0:0.5982:0.0:0.4018	.	174	Q99678	GPR20_HUMAN	M	174	ENSP00000366970:V174M	ENSP00000366970:V174M	V	-	1	0	GPR20	142436686	0.670000	0.27512	0.904000	0.35570	0.566000	0.35808	1.141000	0.31528	2.072000	0.62099	0.561000	0.74099	GTG		0.711	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		8	8	0	0	0	0	8	8				
AGTPBP1	23287	broad.mit.edu	37	9	88207485	88207485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:88207485G>A	ENST00000357081.3	-	19	2702	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S865L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S813L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	853					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTAAAGTTGAATACGTATA	0.274																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2557-2559)TCA>TTA		ATP/GTP binding protein 1							85.0	87.0	87.0					9																	88207485		2203	4297	6500	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88207485G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2558C>T	9.37:g.88207485G>A	ENSP00000349592:p.Ser853Leu					AGTPBP1_uc004aod.3_Missense_Mutation_p.S479L|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S813L|AGTPBP1_uc011lte.1_Missense_Mutation_p.S865L	p.S853L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			18	2591	-			853					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2558C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.074948	0.94000	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.23348	1.91;1.92;1.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	0.957;1.0;0.999	P;D;D	0.79784	0.877;0.993;0.972	T	0.67317	-0.5701	10	0.87932	D	0	-4.4162	19.7107	0.96095	0.0:0.0:1.0:0.0	.	865;853;813	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	L	853;813;865	ENSP00000349592:S853L;ENSP00000365251:S813L;ENSP00000365277:S865L	ENSP00000349592:S853L	S	-	2	0	AGTPBP1	87397305	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.809000	0.99208	2.666000	0.90696	0.591000	0.81541	TCA		0.274	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		15	63	0	0	0	0	15	63				
ALG2	85365	broad.mit.edu	37	9	101980621	101980621	+	Silent	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:101980621C>T	ENST00000476832.1	-	2	907	c.846G>A	c.(844-846)caG>caA	p.Q282Q	ALG2_ENST00000319033.6_Silent_p.Q189Q	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCTTCAATTCCTGATAATGTT	0.483																																						uc004azf.2		NA																	0				ovary(2)	2						c.(844-846)CAG>CAA		alpha-1,3-mannosyltransferase ALG2							123.0	110.0	114.0					9																	101980621		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980621C>T	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.846G>A	9.37:g.101980621C>T						ALG2_uc004azg.2_Silent_p.Q189Q	p.Q282Q	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	916	-		Acute lymphoblastic leukemia(62;0.0559)	282					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.846G>A	CCDS6739.1																																																																																				0.483	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		32	73	0	0	0	0	32	73				
DENND1A	57706	broad.mit.edu	37	9	126414316	126414316	+	Silent	SNP	G	G	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:126414316G>A	ENST00000373624.2	-	9	795	c.594C>T	c.(592-594)ctC>ctT	p.L198L	DENND1A_ENST00000373618.1_Silent_p.L166L|DENND1A_ENST00000394215.2_Silent_p.L168L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.L198L|DENND1A_ENST00000394219.3_Silent_p.L166L|DENND1A_ENST00000542603.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	198	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCAAATGATGAGTATCCGGC	0.388																																						uc004bnz.1		NA																	0				ovary(2)	2						c.(592-594)CTC>CTT		DENN/MADD domain containing 1A isoform 1							95.0	87.0	90.0					9																	126414316		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126414316G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.594C>T	9.37:g.126414316G>A						DENND1A_uc011lzl.1_Silent_p.L15L|DENND1A_uc004bny.1_Silent_p.L15L|DENND1A_uc011lzm.1_Silent_p.L166L|DENND1A_uc004boa.1_Silent_p.L198L|DENND1A_uc004bob.1_Silent_p.L168L|DENND1A_uc004boc.2_Silent_p.L166L	p.L198L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			9	827	-			198			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.594C>T	CCDS35133.1																																																																																				0.388	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		9	35	0	0	0	0	9	35				
FUBP3	8939	broad.mit.edu	37	9	133506175	133506175	+	Splice_Site	SNP	C	C	T	rs199940132	byFrequency	TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr9:133506175C>T	ENST00000319725.9	+	13	1353	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	426					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGAAAGTTGGCGTACGTACAG	0.567													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18952	0.0		0.001	False		,,,				2504	0.0					uc004bzr.1		NA																	0				ovary(1)	1						c.(1276-1278)GGC>GGT		far upstream element (FUSE) binding protein 3		C		0,4032		0,0,2016	45.0	50.0	48.0		1278	-6.3	0.9	9		48	9,8343		0,9,4167	yes	coding-synonymous-near-splice	FUBP3	NM_003934.1		0,9,6183	TT,TC,CC		0.1078,0.0,0.0727		426/573	133506175	9,12375	2016	4176	6192	SO:0001630	splice_region_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133506175C>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1278+1C>T	9.37:g.133506175C>T						FUBP3_uc004bzs.1_Silent_p.G339G	p.G426G	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	13	1386	+			426					A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.1278C>T	CCDS43893.1																																																																																				0.567	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1		Silent	6	19	0	0	0	0	6	19				
ARSF	416	broad.mit.edu	37	X	3030221	3030221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:3030221C>T	ENST00000381127.1	+	11	1618	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ARSF_ENST00000537104.1_Missense_Mutation_p.S466L|ARSF_ENST00000359361.2_Missense_Mutation_p.S466L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	466					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ccAGGTGGGTCAGTTTGGAAG	0.517																																						uc004cre.1		NA																	0				ovary(2)	2						c.(1396-1398)TCA>TTA		arylsulfatase F precursor							47.0	46.0	47.0					X																	3030221		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030221C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1397C>T	X.37:g.3030221C>T	ENSP00000370519:p.Ser466Leu					ARSF_uc004crf.1_Missense_Mutation_p.S466L	p.S466L	NM_004042	NP_004033	P54793	ARSF_HUMAN			11	1618	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	466					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1397C>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943743	0.34283	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93906	-3.31;-3.31;-3.31	2.9	2.9	0.33743	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.369581	0.28262	U	0.015985	D	0.92172	0.7518	M	0.76170	2.325	0.09310	N	1	B	0.29716	0.255	B	0.34652	0.187	T	0.82926	-0.0215	10	0.22109	T	0.4	.	13.5388	0.61662	0.0:1.0:0.0:0.0	.	466	P54793	ARSF_HUMAN	L	466	ENSP00000370519:S466L;ENSP00000445594:S466L;ENSP00000352319:S466L	ENSP00000352319:S466L	S	+	2	0	ARSF	3040221	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	1.614000	0.36911	1.219000	0.43474	0.411000	0.27672	TCA		0.517	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			25	28	0	0	0	0	25	28				
TLR8	51311	broad.mit.edu	37	X	12937993	12937993	+	Silent	SNP	A	A	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:12937993A>T	ENST00000218032.6	+	2	921	c.834A>T	c.(832-834)atA>atT	p.I278I	TLR8_ENST00000311912.5_Silent_p.I296I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	278					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAATTAATATAGATCGTTTTG	0.408																																						uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(832-834)ATA>ATT		toll-like receptor 8 precursor							109.0	90.0	96.0					X																	12937993		2203	4299	6502	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937993A>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.834A>T	X.37:g.12937993A>T						TLR8_uc004cvd.2_Silent_p.I296I	p.I278I	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	902	+			278			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.834A>T	CCDS14152.1																																																																																				0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		12	47	0	0	0	0	12	47				
FAM47C	442444	broad.mit.edu	37	X	37026544	37026544	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:37026544T>C	ENST00000358047.3	+	1	113	c.61T>C	c.(61-63)Tac>Cac	p.Y21H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	21										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CACGCCCTGGTACTGTGACAA	0.657																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(61-63)TAC>CAC		hypothetical protein LOC442444							28.0	26.0	26.0					X																	37026544		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026544T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.61T>C	X.37:g.37026544T>C	ENSP00000367913:p.Tyr21His						p.Y21H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	75	+			21					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.61T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473291	0.26423	.	.	ENSG00000198173	ENST00000358047	T	0.21031	2.03	0.462	0.462	0.16695	.	.	.	.	.	T	0.42921	0.1224	M	0.80183	2.485	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.14309	-1.0477	8	0.66056	D	0.02	.	.	.	.	.	21	Q5HY64	FA47C_HUMAN	H	21	ENSP00000367913:Y21H	ENSP00000367913:Y21H	Y	+	1	0	FAM47C	36936465	0.368000	0.25031	0.006000	0.13384	0.012000	0.07955	0.928000	0.28831	0.397000	0.25310	0.238000	0.17879	TAC		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	13	0	0	0	0	12	13				
ARHGEF9	23229	broad.mit.edu	37	X	62917122	62917122	+	Silent	SNP	G	G	T			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chrX:62917122G>T	ENST00000253401.6	-	4	1244	c.444C>A	c.(442-444)atC>atA	p.I148I	ARHGEF9_ENST00000374872.1_Silent_p.I127I|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.I95I|ARHGEF9_ENST00000374878.1_Silent_p.I146I|ARHGEF9_ENST00000374870.4_Silent_p.I46I	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	148	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGTTCCCAAAGATTACCTTCA	0.468																																						uc004dvl.2		NA																	0				ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(442-444)ATC>ATA		Cdc42 guanine exchange factor 9							126.0	99.0	108.0					X																	62917122		2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917122G>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.444C>A	X.37:g.62917122G>T						ARHGEF9_uc004dvj.1_Silent_p.I37I|ARHGEF9_uc004dvk.1_Silent_p.I10I|ARHGEF9_uc011mos.1_Silent_p.I127I|ARHGEF9_uc004dvm.1_Silent_p.I127I|ARHGEF9_uc011mot.1_Silent_p.I95I|ARHGEF9_uc004dvn.2_Silent_p.I155I	p.I148I	NM_015185	NP_056000	O43307	ARHG9_HUMAN			4	1283	-			148			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.444C>A	CCDS35315.1																																																																																				0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			9	18	1	0	3.86e-05	0.000168701	9	18				
ZMYND12	84217	broad.mit.edu	37	1	42905661	42905664	+	Frame_Shift_Del	DEL	ATAG	ATAG	-	rs369748503		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:42905661_42905664delATAG	ENST00000372565.3	-	4	726_729	c.457_460delCTAT	c.(457-462)ctattcfs	p.LF153fs	ZMYND12_ENST00000433602.2_Frame_Shift_Del_p.LF43fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	153						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCTTGGAATAGATATTCTTCA	0.426																																						uc001chj.2		NA																	0				ovary(1)	1						c.(457-462)CTATTCfs		zinc finger, MYND-type containing 12 isoform 1																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42905661_42905664delATAG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.457_460delCTAT	1.37:g.42905661_42905664delATAG	ENSP00000361646:p.Leu153fs					ZMYND12_uc010ojt.1_Frame_Shift_Del_p.L43fs	p.L153fs	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN			4	727_730	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	153_154					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Del	DEL	ENST00000372565.3	37	c.457_460delCTAT	CCDS467.1																																																																																				0.426	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		31	127	NA	NA	NA	NA	31	127	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175053061	175053072	+	Splice_Site	DEL	TGACATCACTGG	TGACATCACTGG	-	rs202160182		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr1:175053061_175053072delTGACATCACTGG	ENST00000239462.4	+	5	1337_1347	c.1224_1234delTGACATCACTGG	c.(1222-1236)tatgacatcactggg>tagg	p.408_412YDITG>*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	408	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGCCGATATGACATCACTGGTAAGAGCCAT	0.542																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.e5+1		tenascin N precursor																																				SO:0001630	splice_region_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175053061_175053072delTGACATCACTGG	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1234+1TGACATCACTGG>-	1.37:g.175053061_175053072delTGACATCACTGG						TNN_uc010pmx.1_Splice_Site_p.G412_splice	p.G412_splice	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	5	1347	+		Breast(1374;0.000962)						B9EGP3|Q5R360	Splice_Site	DEL	ENST00000239462.4	37	c.1234_splice	CCDS30943.1																																																																																				0.542	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	In_Frame_Del	7	60	NA	NA	NA	NA	7	60	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578232	7578232	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr17:7578232delA	ENST00000269305.4	-	6	806	c.617delT	c.(616-618)ttgfs	p.L206fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L206fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L206fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.L206fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	206	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L206*(7)|p.?(5)|p.L206fs*41(4)|p.?fs(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTCATCCAAATACTCCAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(7)|p.L206*(5)|p.L206fs*41(4)|p.K164_P219del(1)|p.L206F(1)|p.?fs(1)|p.L206L(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	biliary_tract(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|skin(2)|oesophagus(2)|stomach(1)|large_intestine(1)|lung(1)|liver(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(616-618)TTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							139.0	123.0	129.0					17																	7578232		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578232delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.617delT	17.37:g.7578232delA	ENSP00000269305:p.Leu206fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.L206fs|TP53_uc002gih.2_Frame_Shift_Del_p.L206fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L74fs|TP53_uc010cng.1_Frame_Shift_Del_p.L74fs|TP53_uc002gii.1_Frame_Shift_Del_p.L74fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L206fs|TP53_uc010cni.1_Frame_Shift_Del_p.L206fs|TP53_uc002gij.2_Frame_Shift_Del_p.L206fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L113fs|TP53_uc002gio.2_Frame_Shift_Del_p.L74fs|TP53_uc010vug.1_Frame_Shift_Del_p.L167fs	p.L206fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	811	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	206		L -> F (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.617delT	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	36	NA	NA	NA	NA	18	36	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T	rs370244500		TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						uc002kve.2		NA																	0				ovary(4)	4						c.(2680-2685)AAACGAfs		oxysterol-binding protein-like 1A isoform B																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_uc002kvd.2_Frame_Shift_Ins_p.K381fs|OSBPL1A_uc010xbc.1_Frame_Shift_Ins_p.K512fs	p.K894fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			27	2856_2857	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		894_895			Potential.		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.460	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	219	NA	NA	NA	NA	7	219	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219895483	219895485	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr2:219895483_219895485delCTT	ENST00000341552.5	-	9	1170_1172	c.1087_1089delAAG	c.(1087-1089)aagdel	p.K363del	CCDC108_ENST00000409865.3_In_Frame_Del_p.K352del|CCDC108_ENST00000441968.1_In_Frame_Del_p.K363del|CCDC108_ENST00000410037.1_In_Frame_Del_p.K298del|CCDC108_ENST00000453220.1_In_Frame_Del_p.K363del	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	363						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTACAACAGCTTCTGGAAGCCC	0.64																																						uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1087-1089)AAGdel		coiled-coil domain containing 108 isoform 1																																				SO:0001651	inframe_deletion	255101					integral to membrane	structural molecule activity	g.chr2:219895483_219895485delCTT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1087_1089delAAG	2.37:g.219895483_219895485delCTT	ENSP00000340776:p.Lys363del					CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_In_Frame_Del_p.K352del|CCDC108_uc010zkq.1_In_Frame_Del_p.K298del	p.K363del	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1171_1173	-		Renal(207;0.0915)	363					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	ENST00000341552.5	37	c.1087_1089delAAG	CCDS2430.2																																																																																				0.640	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		12	59	NA	NA	NA	NA	12	59	---	---	---	---
CMTR1	23070	broad.mit.edu	37	6	37426517	37426527	+	Frame_Shift_Del	DEL	AAGGGCCCTAA	AAGGGCCCTAA	-			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr6:37426517_37426527delAAGGGCCCTAA	ENST00000373451.4	+	9	1071_1081	c.907_917delAAGGGCCCTAA	c.(907-918)aagggccctaatfs	p.KGPN303fs		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	303	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AATGACTTTGAAGGGCCCTAATGACTTCAAG	0.512																																						uc003ons.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(907-918)AAGGGCCCTAATfs		FtsJ methyltransferase domain containing 2																																				SO:0001589	frameshift_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37426517_37426527delAAGGGCCCTAA	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.907_917delAAGGGCCCTAA	6.37:g.37426517_37426527delAAGGGCCCTAA	ENSP00000362550:p.Lys303fs					FTSJD2_uc010jwu.2_Frame_Shift_Del_p.K247fs	p.K303fs	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			9	1160_1170	+			303_306					A8K949|Q14670|Q96FJ9	Frame_Shift_Del	DEL	ENST00000373451.4	37	c.907_917delAAGGGCCCTAA	CCDS4835.1																																																																																				0.512	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		10	76	NA	NA	NA	NA	10	76	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112423785	112423786	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6937-01A-11D-2012-08	TCGA-CV-6937-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c78a20e-150f-4c12-8abe-b941f90e730f	9d1e96e0-810f-4f72-a622-c95907643627	g.chr7:112423785_112423786insA	ENST00000312814.6	-	2	1655_1656	c.1095_1096insT	c.(1093-1098)cttgcafs	p.A366fs	TMEM168_ENST00000454074.1_Frame_Shift_Ins_p.A366fs	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	366						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATCGCTGTTGCAAGAAGACTAA	0.411																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1093-1098)CTTGCAfs		transmembrane protein 168																																				SO:0001589	frameshift_variant	64418					integral to membrane|transport vesicle		g.chr7:112423785_112423786insA		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1096dupT	7.37:g.112423787_112423787dupA	ENSP00000323068:p.Ala366fs					TMEM168_uc010lju.2_Frame_Shift_Ins_p.L365fs|TMEM168_uc011kmr.1_Intron	p.L365fs	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			2	1487_1488	-			365_366			Helical; (Potential).		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Frame_Shift_Ins	INS	ENST00000312814.6	37	c.1095_1096insT	CCDS5757.1																																																																																				0.411	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		32	166	NA	NA	NA	NA	32	166	---	---	---	---
