#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDHB1	29930	broad.mit.edu	37	5	140431755	140431755	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140431755G>A	ENST00000306549.3	+	1	777	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	234	Cadherin 2. {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)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTTCTGGATGTCAACGA	0.602																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(700-702)Gat>Aat									33.0	31.0	32.0					5																	140431755		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431755G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.700G>A	5.37:g.140431755G>A	ENSP00000307234:p.Asp234Asn						p.D234N	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	777	+			234			Cadherin 2.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.700G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350559	0.82132	.	.	ENSG00000171815	ENST00000306549	T	0.74209	-0.82	6.17	6.17	0.99709	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.49916	D	0.000126	D	0.90689	0.7079	M	0.93978	3.48	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91645	0.5330	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	234	Q9Y5F3	PCDB1_HUMAN	N	234	ENSP00000307234:D234N	ENSP00000307234:D234N	D	+	1	0	PCDHB1	140411939	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	9.700000	0.98707	2.941000	0.99782	0.655000	0.94253	GAT		0.602	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	50	0	0	0	1	0	6	50				
KCNB2	9312	broad.mit.edu	37	8	73849534	73849534	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:73849534C>T	ENST00000523207.1	+	3	2532	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	648					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGCTAGGGGCCCCCCGTTTC	0.587																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1942-1944)ggC>ggT		potassium voltage-gated channel, Shab-related subfamily, member 2							48.0	54.0	52.0					8																	73849534		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849534C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1944C>T	8.37:g.73849534C>T							p.G648G	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2532	+	Breast(64;0.137)		648					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1944C>T	CCDS6209.1																																																																																				0.587	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	135	0	0	0	1	0	7	135				
CYB5R4	51167	broad.mit.edu	37	6	84644345	84644345	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:84644345C>T	ENST00000369681.5	+	11	986	c.846C>T	c.(844-846)tcC>tcT	p.S282S	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	282	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.		S -> P (in dbSNP:rs10080628).		cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTTAATTTCCAAGGAAGATG	0.368																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(844-846)tcC>tcT		cytochrome b5 reductase 4							121.0	121.0	121.0					6																	84644345		2203	4300	6503	SO:0001819	synonymous_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84644345C>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.846C>T	6.37:g.84644345C>T						CYB5R4_ENST00000479164.1_3'UTR	p.S282S	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	11	986	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	282		S -> P (in dbSNP:rs10080628).	FAD-binding FR-type.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.846C>T	CCDS5000.2																																																																																				0.368	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		4	66	0	0	0	1	0	4	66				
YWHAE	7531	broad.mit.edu	37	17	1264556	1264556	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:1264556G>A	ENST00000264335.8	-	4	675	c.408C>T	c.(406-408)gcC>gcT	p.A136A	YWHAE_ENST00000571732.1_Silent_p.A114A|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CGTTTCCTGTGGCAAATTCTG	0.388			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															ENST00000264335.8				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(406-408)gcC>gcT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide							100.0	96.0	98.0					17																	1264556		2203	4300	6503	SO:0001819	synonymous_variant	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264556G>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.408C>T	17.37:g.1264556G>A						YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Silent_p.A114A|YWHAE_ENST00000575977.1_Intron	p.A136A	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	4	675	-			136					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Silent	SNP	ENST00000264335.8	37	c.408C>T	CCDS11001.1																																																																																				0.388	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		11	131	0	0	0	1	0	11	131				
TLL2	7093	broad.mit.edu	37	10	98188453	98188453	+	Silent	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:98188453G>C	ENST00000357947.3	-	5	798	c.573C>G	c.(571-573)acC>acG	p.T191T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	191	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTCACACAGGTGTGCTTCT	0.473																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(571-573)acC>acG		tolloid-like 2							131.0	106.0	114.0					10																	98188453		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188453G>C	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.573C>G	10.37:g.98188453G>C						TLL2_ENST00000469598.1_5'UTR	p.T191T	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	5	798	-		Colorectal(252;0.0846)	191			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.573C>G	CCDS7449.1																																																																																				0.473	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			5	73	0	0	0	1	0	5	73				
OR2T6	254879	broad.mit.edu	37	1	248551746	248551746	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248551746C>T	ENST00000355728.2	+	1	837	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTTTATACCATCCTCACAC	0.468																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(835-837)acC>acT		olfactory receptor, family 2, subfamily T, member 6							116.0	114.0	115.0					1																	248551746		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551746C>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.837C>T	1.37:g.248551746C>T							p.T279T	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	837	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		279					A6NE36	Silent	SNP	ENST00000355728.2	37	c.837C>T	CCDS31114.1																																																																																				0.468	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		8	84	0	0	0	1	0	8	84				
ADCY8	114	broad.mit.edu	37	8	131792969	131792969	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:131792969C>T	ENST00000286355.5	-	18	5515	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	ADCY8_ENST00000377928.3_Silent_p.K1010K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1141					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCCCTGGTCCTTCAGGATGA	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3421-3423)aaG>aaA		adenylate cyclase 8 (brain)							148.0	148.0	148.0					8																	131792969		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792969C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3423G>A	8.37:g.131792969C>T		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.K1010K	p.K1141K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5515	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1141						Silent	SNP	ENST00000286355.5	37	c.3423G>A	CCDS6363.1																																																																																				0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			21	183	0	0	0	1	0	21	183				
RPL39L	116832	broad.mit.edu	37	3	186838997	186838997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186838997G>A	ENST00000296277.4	-	3	494	c.92C>T	c.(91-93)cCt>cTt	p.P31L	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31L|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31L	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTTACTACCAGGTTTCATCTG	0.438																																						ENST00000296277.4																			0											c.(91-93)cCt>cTt		ribosomal protein L39-like							111.0	110.0	111.0					3																	186838997		2203	4300	6503	SO:0001583	missense	116832				spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome	g.chr3:186838997G>A	BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"""L ribosomal proteins"""	17094	protein-coding gene	gene with protein product		607547	"""ribosomal protein L39-like 1"""	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.92C>T	3.37:g.186838997G>A	ENSP00000296277:p.Pro31Leu					RPL39L_ENST00000433055.1_Missense_Mutation_p.P31L|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31L	p.P31L	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)	3	494	-	all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		31					Q8IUD0	Missense_Mutation	SNP	ENST00000296277.4	37	c.92C>T	CCDS3286.1	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050812	0.19827	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	1.24	0.21308	Ribosomal protein L39e domain (2);Ribosomal protein L39e, conserved site (1);	0.359519	0.18165	U	0.149654	T	0.39358	0.1075	.	.	.	0.33160	D	0.546876	B	0.16603	0.018	B	0.14023	0.01	T	0.45483	-0.9258	8	0.87932	D	0	-23.1447	6.767	0.23573	0.1601:0.0:0.8399:0.0	.	31	Q96EH5	RL39L_HUMAN	L	31	.	ENSP00000296277:P31L	P	-	2	0	RPL39L	188321691	1.000000	0.71417	0.829000	0.32907	0.342000	0.28953	5.535000	0.67173	0.445000	0.26639	-0.218000	0.12543	CCT		0.438	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344283.2	NM_052969		16	212	0	0	0	1	0	16	212				
LAMC1	3915	broad.mit.edu	37	1	183079729	183079729	+	Missense_Mutation	SNP	C	C	T	rs142614579	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:183079729C>T	ENST00000258341.4	+	4	1218	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	321	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAAGTGTCTTCCTTTCTTCAA	0.473																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(961-963)Cct>Tct		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	SER/PRO	3,4403	6.2+/-15.9	0,3,2200	188.0	184.0	186.0		961	4.9	0.3	1	dbSNP_134	186	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LAMC1	NM_002293.3	74	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	probably-damaging	321/1610	183079729	7,12999	2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183079729C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.961C>T	1.37:g.183079729C>T	ENSP00000258341:p.Pro321Ser						p.P321S	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			4	1218	+			321			Laminin EGF-like 1.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.961C>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382348	0.82792	6.81E-4	4.65E-4	ENSG00000135862	ENST00000258341	T	0.62498	0.02	4.87	4.87	0.63330	EGF-like, laminin (4);	0.054481	0.85682	D	0.000000	T	0.76026	0.3930	M	0.79475	2.455	0.80722	D	1	P	0.46142	0.873	P	0.54026	0.74	T	0.80443	-0.1380	10	0.87932	D	0	.	17.9961	0.89184	0.0:1.0:0.0:0.0	.	321	P11047	LAMC1_HUMAN	S	321	ENSP00000258341:P321S	ENSP00000258341:P321S	P	+	1	0	LAMC1	181346352	0.998000	0.40836	0.254000	0.24359	0.975000	0.68041	3.714000	0.54889	2.239000	0.73571	0.305000	0.20034	CCT		0.473	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		12	186	0	0	0	1	0	12	186				
PRPS1L1	221823	broad.mit.edu	37	7	18067268	18067268	+	Silent	SNP	C	C	T	rs13231476		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:18067268C>T	ENST00000506618.2	-	1	218	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	46					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACGCACACTCTCATCAATTT	0.483																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(136-138)gaG>gaA		phosphoribosyl pyrophosphate synthetase 1-like 1							305.0	300.0	302.0					7																	18067268		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067268C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.138G>A	7.37:g.18067268C>T							p.E46E	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	218	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		46					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.138G>A	CCDS47552.1																																																																																				0.483	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		23	306	0	0	0	1	0	23	306				
FILIP1	27145	broad.mit.edu	37	6	76023186	76023186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:76023186G>A	ENST00000237172.7	-	5	2692	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	FILIP1_ENST00000370020.1_Missense_Mutation_p.P689S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.P788S	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	788										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCACACTGGGCCTAAGAGCT	0.478																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2362-2364)Ccc>Tcc		filamin A interacting protein 1							125.0	129.0	128.0					6																	76023186		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023186G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2362C>T	6.37:g.76023186G>A	ENSP00000237172:p.Pro788Ser					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.P689S|FILIP1_ENST00000237172.7_Missense_Mutation_p.P788S	p.P788S			Q7Z7B0	FLIP1_HUMAN			5	2583	-			788					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2362C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544331	0.65198	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.59772	0.28;0.24;0.28	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.69569	-0.5110	10	0.48119	T	0.1	-19.9812	20.0693	0.97712	0.0:0.0:1.0:0.0	.	788;788;788	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	S	788;788;689	ENSP00000376728:P788S;ENSP00000237172:P788S;ENSP00000359037:P689S	ENSP00000237172:P788S	P	-	1	0	FILIP1	76079906	1.000000	0.71417	0.995000	0.50966	0.729000	0.41735	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	CCC		0.478	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		11	222	0	0	0	1	0	11	222				
FRRS1L	23732	broad.mit.edu	37	9	111903842	111903842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:111903842G>A	ENST00000561981.2	-	4	642	c.643C>T	c.(643-645)Cat>Tat	p.H215Y		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	215	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TTGTCATCATGGACGCAGGCC	0.433																																						ENST00000374581.3																			0											c.(643-645)Cat>Tat		ferric-chelate reductase 1-like							86.0	82.0	83.0					9																	111903842		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111903842G>A	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.643C>T	9.37:g.111903842G>A	ENSP00000477141:p.His215Tyr						p.H215Y	NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN			4	642	-			215			DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.643C>T	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218786	0.58560	.	.	ENSG00000136805	ENST00000374581	T	0.75938	-0.98	5.52	5.52	0.82312	DOMON domain (3);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.67941	-0.5540	10	0.05620	T	0.96	-5.9085	19.4455	0.94844	0.0:0.0:1.0:0.0	.	215	Q9P0K9	CI004_HUMAN	Y	215	ENSP00000363709:H215Y	ENSP00000363709:H215Y	H	-	1	0	C9orf4	110943663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.866000	0.99616	2.599000	0.87857	0.591000	0.81541	CAT		0.433	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		11	129	0	0	0	1	0	11	129				
CDC25A	993	broad.mit.edu	37	3	48200887	48200887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:48200887G>A	ENST00000302506.3	-	14	1789	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	CDC25A_ENST00000351231.3_Missense_Mutation_p.P421S	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	461	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TACAGCTCAGGGTAGTGGAGT	0.532																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1381-1383)Cct>Tct		cell division cycle 25A							119.0	107.0	111.0					3																	48200887		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200887G>A	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1381C>T	3.37:g.48200887G>A	ENSP00000303706:p.Pro461Ser					CDC25A_ENST00000351231.3_Missense_Mutation_p.P421S	p.P461S	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1789	-			461			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1381C>T	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114193	0.94339	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.30448	1.53;1.53	5.72	5.72	0.89469	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69924	-0.5013	10	0.87932	D	0	.	17.4503	0.87590	0.0:0.0:1.0:0.0	.	421;461	P30304-2;P30304	.;MPIP1_HUMAN	S	461;421	ENSP00000303706:P461S;ENSP00000343166:P421S	ENSP00000303706:P461S	P	-	1	0	CDC25A	48175891	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.334000	0.96470	2.708000	0.92522	0.650000	0.86243	CCT		0.532	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		6	118	0	0	0	1	0	6	118				
TMEM200A	114801	broad.mit.edu	37	6	130762540	130762540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:130762540G>A	ENST00000296978.3	+	3	1844	c.973G>A	c.(973-975)Gat>Aat	p.D325N	TMEM200A_ENST00000392429.1_Missense_Mutation_p.D325N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D325N	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	325						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTGTCAATGGATTCCCTTGT	0.438																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(973-975)Gat>Aat		transmembrane protein 200A							105.0	97.0	100.0					6																	130762540		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762540G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.973G>A	6.37:g.130762540G>A	ENSP00000296978:p.Asp325Asn					TMEM200A_ENST00000296978.3_Missense_Mutation_p.D325N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D325N	p.D325N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3351	+			325					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.973G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005652	0.93287	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.048492	0.85682	D	0.000000	T	0.40094	0.1103	L	0.32530	0.975	0.80722	D	1	P	0.38250	0.624	B	0.37267	0.245	T	0.34153	-0.9840	9	0.40728	T	0.16	-28.7408	20.3368	0.98748	0.0:0.0:1.0:0.0	.	325	Q86VY9	T200A_HUMAN	N	325	.	ENSP00000296978:D325N	D	+	1	0	TMEM200A	130804233	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAT		0.438	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		8	90	0	0	0	1	0	8	90				
MED1	5469	broad.mit.edu	37	17	37565432	37565432	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37565432C>T	ENST00000300651.6	-	17	3265	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGTGTCTGCCTTCTTCCGCT	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3040-3042)aaG>aaA		mediator complex subunit 1							137.0	134.0	135.0					17																	37565432		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565432C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3042G>A	17.37:g.37565432C>T		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.K1014K	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3265	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1014			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3042G>A	CCDS11336.1																																																																																				0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		7	151	0	0	0	1	0	7	151				
ARHGAP20	57569	broad.mit.edu	37	11	110477462	110477462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:110477462G>A	ENST00000260283.4	-	10	1071	c.787C>T	c.(787-789)Cca>Tca	p.P263S	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	263	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTCCATATGGATATTCATGC	0.438																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(787-789)Cca>Tca		Rho GTPase activating protein 20							115.0	117.0	116.0					11																	110477462		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110477462G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.787C>T	11.37:g.110477462G>A	ENSP00000260283:p.Pro263Ser					ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S	p.P263S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	10	1071	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	263			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.787C>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539344	0.85917	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	5.37	5.37	0.77165	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.79011	2.435	0.43673	D	0.996106	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80079	-0.1532	10	0.72032	D	0.01	.	19.5317	0.95231	0.0:0.0:1.0:0.0	.	263;240	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	S	263;237;240;227;237;227	ENSP00000260283:P263S;ENSP00000349660:P237S;ENSP00000432076:P240S;ENSP00000436319:P227S;ENSP00000436522:P237S;ENSP00000431399:P227S	ENSP00000260283:P263S	P	-	1	0	ARHGAP20	109982672	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.245000	0.89825	2.681000	0.91329	0.644000	0.83932	CCA		0.438	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		11	178	0	0	0	1	0	11	178				
HTRA3	94031	broad.mit.edu	37	4	8293147	8293147	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:8293147G>A	ENST00000307358.2	+	4	963	c.759G>A	c.(757-759)ggG>ggA	p.G253G	HTRA3_ENST00000382512.3_Silent_p.G253G	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	253	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCGGCCTGGGGAGTTTGTGG	0.617																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(757-759)ggG>ggA		HtrA serine peptidase 3							78.0	78.0	78.0					4																	8293147		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8293147G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.759G>A	4.37:g.8293147G>A						HTRA3_ENST00000382512.3_Silent_p.G253G	p.G253G	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			4	963	+			253			Serine protease.		Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.759G>A	CCDS3400.1																																																																																				0.617	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		10	77	0	0	0	1	0	10	77				
VWF	7450	broad.mit.edu	37	12	6128369	6128369	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6128369C>T	ENST00000261405.5	-	28	4469	c.4215G>A	c.(4213-4215)aaG>aaA	p.K1405K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1405	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCTTCTTCTTCAGGCCCT	0.617																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4213-4215)aaG>aaA		von Willebrand factor	Antihemophilic Factor(DB00025)						63.0	66.0	65.0					12																	6128369		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128369C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4215G>A	12.37:g.6128369C>T							p.K1405K	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4469	-			1405			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.4215G>A	CCDS8539.1																																																																																				0.617	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	103	0	0	0	1	0	8	103				
ATP13A5	344905	broad.mit.edu	37	3	193039579	193039579	+	Silent	SNP	C	C	T	rs138029126		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:193039579C>T	ENST00000342358.4	-	16	1923	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	602						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S602S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCTGCAGGCTCGAGGAAAATG	0.502																																						ENST00000342358.4																			1	Substitution - coding silent(1)	p.S602S(1)	endometrium(1)	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1804-1806)tcG>tcA		ATPase type 13A5							95.0	91.0	93.0					3																	193039579		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193039579C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1806G>A	3.37:g.193039579C>T							p.S602S	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	16	1923	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		602					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.1806G>A	CCDS33914.1																																																																																				0.502	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		4	65	0	0	0	1	0	4	65				
PLPPR4	9890	broad.mit.edu	37	1	99771917	99771917	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:99771917C>T	ENST00000370185.3	+	7	2140	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	LPPR4_ENST00000457765.1_Missense_Mutation_p.P490L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P390L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		548					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.P548L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCACCTCCCCCAAAAGCAGC	0.547																																						ENST00000370185.3																			1	Substitution - Missense(1)	p.P548L(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1642-1644)cCc>cTc									81.0	87.0	85.0					1																	99771917		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771917C>T																												ENST00000370185.3:c.1643C>T	1.37:g.99771917C>T	ENSP00000359204:p.Pro548Leu					LPPR4_ENST00000457765.1_Missense_Mutation_p.P490L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P390L	p.P548L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2140	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	548					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1643C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554816	0.65425	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.26373	2.31;2.24;1.74	5.62	5.62	0.85841	.	0.239219	0.45126	D	0.000398	T	0.39118	0.1066	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.64776	0.929;0.92	T	0.03287	-1.1052	9	.	.	.	-28.5348	19.6433	0.95764	0.0:1.0:0.0:0.0	.	490;548	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	548;490;548;390	ENSP00000359204:P548L;ENSP00000394913:P490L;ENSP00000359203:P390L	.	P	+	2	0	RP4-788L13.1	99544505	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	4.887000	0.63156	2.638000	0.89438	0.591000	0.81541	CCC		0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			13	248	0	0	0	1	0	13	248				
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:111957747G>A	ENST00000369732.3	-	11	1431	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	459					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1375-1377)tCc>tTc		oviductal glycoprotein 1, 120kDa							117.0	103.0	108.0					1																	111957747		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957747G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1376C>T	1.37:g.111957747G>A	ENSP00000358747:p.Ser459Phe						p.S459F	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1431	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	459					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1376C>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829855	0.71258	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05319	3.46	4.74	2.86	0.33363	.	1.628260	0.03379	N	0.200148	T	0.07908	0.0198	L	0.47190	1.495	0.09310	N	0.999997	D;D	0.67145	0.978;0.996	P;P	0.61940	0.758;0.896	T	0.35176	-0.9799	10	0.87932	D	0	-5.4663	7.7369	0.28819	0.2006:0.0:0.7994:0.0	.	459;523	Q12889;Q59HH5	OVGP1_HUMAN;.	F	459;523;267	ENSP00000358747:S459F	ENSP00000358743:S523F	S	-	2	0	OVGP1	111759270	0.001000	0.12720	0.003000	0.11579	0.797000	0.45037	0.417000	0.21214	0.684000	0.31448	0.585000	0.79938	TCC		0.502	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		7	99	0	0	0	1	0	7	99				
NMUR1	10316	broad.mit.edu	37	2	232393153	232393153	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:232393153G>A	ENST00000305141.4	-	2	712	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	193					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTTGGGCAGGGAGCAGAGCA	0.697																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(577-579)tcC>tcT		neuromedin U receptor 1							34.0	32.0	32.0					2																	232393153		2203	4298	6501	SO:0001819	synonymous_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393153G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.579C>T	2.37:g.232393153G>A							p.S193S	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	712	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	193					O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	c.579C>T	CCDS2486.1																																																																																				0.697	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		4	53	0	0	0	1	0	4	53				
GJB4	127534	broad.mit.edu	37	1	35227131	35227131	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:35227131C>T	ENST00000339480.1	+	2	646	c.276C>T	c.(274-276)gtC>gtT	p.V92V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	92					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTCGTGGTCATGCACGTGG	0.647																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(274-276)gtC>gtT		gap junction protein, beta 4, 30.3kDa							100.0	76.0	84.0					1																	35227131		2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227131C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.276C>T	1.37:g.35227131C>T						RP1-34M23.5_ENST00000542839.1_RNA	p.V92V	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	646	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	92					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.276C>T	CCDS383.1																																																																																				0.647	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		4	53	0	0	0	1	0	4	53				
PLEC	5339	broad.mit.edu	37	8	144990493	144990493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144990493G>A	ENST00000322810.4	-	32	14076	c.13907C>T	c.(13906-13908)gCc>gTc	p.A4636V	PLEC_ENST00000436759.2_Missense_Mutation_p.A4526V|PLEC_ENST00000345136.3_Missense_Mutation_p.A4499V|PLEC_ENST00000354958.2_Missense_Mutation_p.A4477V|PLEC_ENST00000354589.3_Missense_Mutation_p.A4499V|PLEC_ENST00000357649.2_Missense_Mutation_p.A4503V|PLEC_ENST00000356346.3_Missense_Mutation_p.A4485V|PLEC_ENST00000398774.2_Missense_Mutation_p.A4467V|PLEC_ENST00000527096.1_Missense_Mutation_p.A4522V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4636	4 X 4 AA tandem repeats of G-S-R-X.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGGAGCCGGCCCGGGAGCC	0.716																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13906-13908)gCc>gTc		plectin							5.0	7.0	7.0					8																	144990493		1195	3111	4306	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990493G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13907C>T	8.37:g.144990493G>A	ENSP00000323856:p.Ala4636Val					PLEC_ENST00000357649.2_Missense_Mutation_p.A4503V|PLEC_ENST00000436759.2_Missense_Mutation_p.A4526V|PLEC_ENST00000354958.2_Missense_Mutation_p.A4477V|PLEC_ENST00000527096.1_Missense_Mutation_p.A4522V|PLEC_ENST00000398774.2_Missense_Mutation_p.A4467V|PLEC_ENST00000354589.3_Missense_Mutation_p.A4499V|PLEC_ENST00000356346.3_Missense_Mutation_p.A4485V|PLEC_ENST00000345136.3_Missense_Mutation_p.A4499V	p.A4636V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	14076	-			4636			4 X 4 AA tandem repeats of G-S-R-X.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13907C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237323	0.39498	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76839	-1.02;-1.02;-1.05;-1.05;-1.03;-1.02;-1.02;-1.02;-1.02	5.05	5.05	0.67936	.	0.103437	0.41001	U	0.000976	T	0.65291	0.2677	N	0.22421	0.69	0.47621	D	0.999478	P;P;P;B;P;P;P;P	0.35272	0.493;0.493;0.493;0.361;0.493;0.493;0.493;0.493	B;B;B;B;B;B;B;B	0.28011	0.053;0.053;0.053;0.039;0.053;0.085;0.053;0.053	T	0.68066	-0.5507	10	0.46703	T	0.11	.	17.3413	0.87297	0.0:0.0:1.0:0.0	.	4526;4485;4477;4636;4467;4499;4503;4499	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	4499;4503;4499;4467;4636;4477;4485;4526;4522	ENSP00000344848:A4499V;ENSP00000350277:A4503V;ENSP00000346602:A4499V;ENSP00000381756:A4467V;ENSP00000323856:A4636V;ENSP00000347044:A4477V;ENSP00000348702:A4485V;ENSP00000388180:A4526V;ENSP00000434583:A4522V	ENSP00000323856:A4636V	A	-	2	0	PLEC	145062481	0.962000	0.33011	0.999000	0.59377	0.573000	0.36030	5.373000	0.66162	2.606000	0.88127	0.643000	0.83706	GCC		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	23	0	0	0	1	0	5	23				
RMI1	80010	broad.mit.edu	37	9	86616879	86616879	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:86616879C>T	ENST00000325875.3	+	3	1310	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	326					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAGAAACTGTCCAGAAAGAAC	0.373																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(976-978)gtC>gtT		RecQ mediated genome instability 1							44.0	46.0	45.0					9																	86616879		2203	4299	6502	SO:0001819	synonymous_variant	80010				DNA replication	nucleus		g.chr9:86616879C>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.978C>T	9.37:g.86616879C>T							p.V326V	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1310	+			326					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	c.978C>T	CCDS6669.1																																																																																				0.373	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		8	79	0	0	0	1	0	8	79				
OR1B1	347169	broad.mit.edu	37	9	125391445	125391445	+	Missense_Mutation	SNP	G	G	A	rs140036779	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125391445G>A	ENST00000304833.3	-	1	407	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCCACATAGCGATCCAGAGCC	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22280	0.0		0.0	False		,,,				2504	0.001					ENST00000304833.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(370-372)Cgc>Tgc		olfactory receptor, family 1, subfamily B, member 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	89.0	94.0		370	3.4	1.0	9	dbSNP_134	94	4,8596	4.3+/-15.6	0,4,4296	yes	missense	OR1B1	NM_001004450.1	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging	124/319	125391445	5,13001	2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391445G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.370C>T	9.37:g.125391445G>A	ENSP00000303151:p.Arg124Cys					RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	p.R124C	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN			1	407	-			124					Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.370C>T	CCDS35126.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.95	3.732638	0.69189	2.27E-4	4.65E-4	ENSG00000171484	ENST00000304833	T	0.77358	-1.09	4.26	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000859	D	0.86785	0.6016	M	0.79693	2.465	0.49915	D	0.999838	D	0.89917	1.0	D	0.79108	0.992	D	0.87795	0.2621	10	0.87932	D	0	-6.103	11.4069	0.49902	0.091:0.0:0.909:0.0	.	124	Q8NGR6	OR1B1_HUMAN	C	124	ENSP00000303151:R124C	ENSP00000303151:R124C	R	-	1	0	OR1B1	124431266	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.721000	0.47260	1.144000	0.42321	-0.147000	0.13772	CGC		0.502	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		6	74	0	0	0	1	0	6	74				
ALS2CR12	130540	broad.mit.edu	37	2	202153458	202153458	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:202153458C>T	ENST00000286190.5	-	14	1304	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	ALS2CR12_ENST00000405148.2_Missense_Mutation_p.G420R|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.G397R|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.G397R			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	420					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCCAATCTCCCAGAACATCCT	0.353																																						ENST00000405148.2																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1258-1260)Ggg>Agg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							127.0	118.0	121.0					2																	202153458		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202153458C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1258G>A	2.37:g.202153458C>T	ENSP00000286190:p.Gly420Arg					ALS2CR12_ENST00000439709.1_Missense_Mutation_p.G397R|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.G420R|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.G397R	p.G420R	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			15	1701	-			420					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1258G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113981	0.37339	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.44083	0.94;0.94;0.93;0.93	4.32	1.49	0.22878	.	1.336070	0.05002	N	0.469229	T	0.28400	0.0702	N	0.24115	0.695	0.09310	N	1	P;P	0.36837	0.571;0.571	B;B	0.37508	0.252;0.252	T	0.21348	-1.0248	10	0.20046	T	0.44	5.0E-4	5.2096	0.15308	0.1673:0.6436:0.0:0.189	.	420;397	Q96Q35;G5E9S3	AL2SB_HUMAN;.	R	420;420;397;397	ENSP00000286190:G420R;ENSP00000385098:G420R;ENSP00000376086:G397R;ENSP00000412073:G397R	ENSP00000286190:G420R	G	-	1	0	ALS2CR12	201861703	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.145000	0.16157	0.543000	0.28864	-0.230000	0.12252	GGG		0.353	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		9	85	0	0	0	1	0	9	85				
GMPS	8833	broad.mit.edu	37	3	155654174	155654174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:155654174C>T	ENST00000496455.2	+	15	2190	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	GMPS_ENST00000295920.7_Missense_Mutation_p.H520Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	619					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GACACCATTACATTTTGATCG	0.428			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1855-1857)Cat>Tat		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						117.0	109.0	111.0					3																	155654174		1870	4108	5978	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155654174C>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1855C>T	3.37:g.155654174C>T	ENSP00000419851:p.His619Tyr					GMPS_ENST00000295920.7_Missense_Mutation_p.H520Y	p.H619Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2190	+			619					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.1855C>T	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035261	0.93630	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.79750	-0.1672	9	0.62326	D	0.03	-17.1616	19.4655	0.94935	0.0:1.0:0.0:0.0	.	520;619	F8W720;P49915	.;GUAA_HUMAN	Y	619;520;568;619	.	ENSP00000295920:H520Y	H	+	1	0	GMPS	157136868	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	7.354000	0.79424	2.580000	0.87095	0.561000	0.74099	CAT		0.428	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			7	145	0	0	0	1	0	7	145				
PDE3B	5140	broad.mit.edu	37	11	14808214	14808214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:14808214G>A	ENST00000282096.4	+	3	1614	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	421					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TGAGAAAGGGGATAGAAAACT	0.363																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1261-1263)Gat>Aat		phosphodiesterase 3B, cGMP-inhibited							99.0	106.0	103.0					11																	14808214		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808214G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1261G>A	11.37:g.14808214G>A	ENSP00000282096:p.Asp421Asn					PDE3B_ENST00000455098.2_Intron	p.D421N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			3	1614	+			421					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1261G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	g	34	5.317194	0.95682	.	.	ENSG00000152270	ENST00000282096	T	0.31769	1.48	5.72	5.72	0.89469	.	440.865000	0.00166	N	0.000000	T	0.57446	0.2054	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	P	0.57425	0.82	T	0.43393	-0.9394	10	0.56958	D	0.05	.	19.8736	0.96861	0.0:0.0:1.0:0.0	.	421	Q13370	PDE3B_HUMAN	N	421	ENSP00000282096:D421N	ENSP00000282096:D421N	D	+	1	0	PDE3B	14764790	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.158000	0.94723	2.696000	0.92011	0.558000	0.71614	GAT		0.363	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		12	172	0	0	0	1	0	12	172				
PRB1	5542	broad.mit.edu	37	12	11506726	11506726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11506726C>T	ENST00000500254.2	-	3	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_ENST00000545626.1_Missense_Mutation_p.G104E|PRB1_ENST00000546254.1_Missense_Mutation_p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(310-312)gGa>gAa		proline-rich protein BstNI subfamily 1							176.0	218.0	204.0					12																	11506726		2161	4274	6435	SO:0001583	missense	5542					extracellular region		g.chr12:11506726C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.311G>A	12.37:g.11506726C>T	ENSP00000420826:p.Gly104Glu					PRB1_ENST00000545626.1_Missense_Mutation_p.G104E|PRB1_ENST00000546254.1_Missense_Mutation_p.G104E	p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	348	-			287		Missing (in allele M).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.311G>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.910	0.169101	0.09339	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.08984	3.03;3.39;3.39	1.56	0.646	0.17789	.	.	.	.	.	T	0.06645	0.0170	L	0.50333	1.59	0.09310	N	1	B;B;B	0.31383	0.321;0.321;0.321	B;B;B	0.25405	0.041;0.06;0.041	T	0.35201	-0.9798	9	0.35671	T	0.21	.	2.9546	0.05872	0.0:0.5107:0.2955:0.1938	.	111;104;104	Q86YA1;G3V1R1;G3V1M9	.;.;.	E	104	ENSP00000444249:G104E;ENSP00000420826:G104E;ENSP00000442127:G104E	ENSP00000420826:G104E	G	-	2	0	PRB1	11397993	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.017000	0.03630	0.241000	0.21283	-0.498000	0.04607	GGA		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		29	570	0	0	0	1	0	29	570				
ACADL	33	broad.mit.edu	37	2	211085508	211085508	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:211085508C>T	ENST00000233710.3	-	2	323	c.96G>A	c.(94-96)ggG>ggA	p.G32G	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	32					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GACGTTCTTCCCCTCCGGAAT	0.348																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(94-96)ggG>ggA		acyl-CoA dehydrogenase, long chain							45.0	45.0	45.0					2																	211085508		2202	4299	6501	SO:0001819	synonymous_variant	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211085508C>T	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.96G>A	2.37:g.211085508C>T						AC006994.2_ENST00000412065.1_RNA	p.G32G	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	2	323	-		Renal(323;0.202)	32					B2R8T3|Q8IUN8	Silent	SNP	ENST00000233710.3	37	c.96G>A	CCDS2389.1																																																																																				0.348	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		3	32	0	0	0	1	0	3	32				
SPEF2	79925	broad.mit.edu	37	5	35763785	35763785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35763785C>T	ENST00000356031.3	+	26	3936	c.3782C>T	c.(3781-3783)tCt>tTt	p.S1261F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.S1256F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1261					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAGGCTTCTTTAGCAGTA	0.403																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3766-3768)tCt>tTt		sperm flagellar 2							127.0	121.0	123.0					5																	35763785		1900	4125	6025	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35763785C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3782C>T	5.37:g.35763785C>T	ENSP00000348314:p.Ser1261Phe					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1261F	p.S1256F			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	3767	+	all_lung(31;7.56e-05)		1261					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3767C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481361	0.63849	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.07567	3.28;3.18	6.08	4.23	0.50019	.	0.646008	0.16483	N	0.212477	T	0.20251	0.0487	M	0.67953	2.075	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.916	T	0.00722	-1.1594	10	0.56958	D	0.05	.	4.2383	0.10637	0.1865:0.6178:0.0:0.1957	.	1256;1261	Q9C093-2;Q9C093	.;SPEF2_HUMAN	F	1261;1256	ENSP00000348314:S1261F;ENSP00000412125:S1256F	ENSP00000348314:S1261F	S	+	2	0	SPEF2	35799542	0.955000	0.32602	1.000000	0.80357	0.950000	0.60333	1.965000	0.40471	2.894000	0.99253	0.591000	0.81541	TCT		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	88	0	0	0	1	0	8	88				
UNC5C	8633	broad.mit.edu	37	4	96124061	96124061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:96124061C>A	ENST00000453304.1	-	12	2305	c.1957G>T	c.(1957-1959)Gat>Tat	p.D653Y		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	653					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTGCATCCAGCTGAATG	0.602																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1957-1959)Gat>Tat		unc-5 homolog C (C. elegans)							111.0	107.0	109.0					4																	96124061		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96124061C>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1957G>T	4.37:g.96124061C>A	ENSP00000406022:p.Asp653Tyr						p.D653Y	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	12	2305	-		Hepatocellular(203;0.114)	653					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1957G>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329839	0.81690	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.62498	0.33;0.02	5.47	5.47	0.80525	.	0.047657	0.85682	D	0.000000	T	0.78717	0.4327	M	0.78456	2.415	0.80722	D	1	D;P	0.64830	0.994;0.924	P;P	0.60345	0.873;0.564	T	0.80915	-0.1169	10	0.87932	D	0	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	653;653	A8K385;O95185	.;UNC5C_HUMAN	Y	653;612;672	ENSP00000406022:D653Y;ENSP00000426924:D672Y	ENSP00000328673:D612Y	D	-	1	0	UNC5C	96343084	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.776000	0.85560	2.744000	0.94065	0.561000	0.74099	GAT		0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		14	101	1	0	0.000151284	1	0.000153194	14	101				
CAPN5	726	broad.mit.edu	37	11	76831936	76831936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:76831936G>A	ENST00000278559.3	+	10	1657	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D530N|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D490N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	490	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGTCTTCACTGATGTGCCCTC	0.622																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(1468-1470)Gat>Aat		calpain 5							107.0	108.0	108.0					11																	76831936		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76831936G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1468G>A	11.37:g.76831936G>A	ENSP00000278559:p.Asp490Asn					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D490N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D530N	p.D490N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			10	1657	+			490			Domain III.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1468G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864028	0.91511	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.87650	-2.28;-2.28;-2.28	4.77	4.77	0.60923	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	L	0.47016	1.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.987;1.0	D;P;P;D	0.91635	0.999;0.901;0.901;0.999	D	0.92204	0.5770	10	0.66056	D	0.02	.	16.7589	0.85507	0.0:0.0:1.0:0.0	.	528;530;530;490	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	490;530;490;530;530	ENSP00000278559:D490N;ENSP00000432332:D490N;ENSP00000409996:D530N	ENSP00000278559:D490N	D	+	1	0	CAPN5	76509584	1.000000	0.71417	0.972000	0.41901	0.955000	0.61496	7.479000	0.81095	2.175000	0.68902	0.462000	0.41574	GAT		0.622	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		8	142	0	0	0	1	0	8	142				
CYP2C9	1559	broad.mit.edu	37	10	96698527	96698527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:96698527C>T	ENST00000260682.6	+	1	100	c.88C>T	c.(88-90)Cct>Tct	p.P30S	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	30					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGAAAACTCCCTCCTGGCCC	0.468																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(88-90)Cct>Tct		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						161.0	157.0	159.0					10																	96698527		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96698527C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.88C>T	10.37:g.96698527C>T	ENSP00000260682:p.Pro30Ser					CYP2C9_ENST00000461906.1_3'UTR	p.P30S	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	1	100	+		Colorectal(252;0.0902)	30					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.88C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.921466	0.52653	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.83837	-1.77	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000001	D	0.92378	0.7581	M	0.92604	3.325	0.37121	D	0.900824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.95266	0.8373	10	0.87932	D	0	.	13.2972	0.60305	0.0:1.0:0.0:0.0	.	30;30;30	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	S	30	ENSP00000260682:P30S	ENSP00000260682:P30S	P	+	1	0	CYP2C9	96688517	0.934000	0.31675	0.273000	0.24645	0.396000	0.30629	4.714000	0.61902	2.037000	0.60232	0.491000	0.48974	CCT		0.468	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		12	229	0	0	0	1	0	12	229				
PCDHB11	56125	broad.mit.edu	37	5	140580531	140580531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140580531C>T	ENST00000354757.3	+	1	1184	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S30F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCAGTTGAG	0.458																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1183-1185)tCt>tTt									114.0	114.0	114.0					5																	140580531		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580531C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1184C>T	5.37:g.140580531C>T	ENSP00000346802:p.Ser395Phe					PCDHB11_ENST00000536699.1_Missense_Mutation_p.S30F	p.S395F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1184	+			395			Cadherin 4.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1184C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241701	0.79912	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.53640	0.61;4.68	2.52	1.61	0.23674	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67230	0.2871	M	0.84683	2.71	0.09310	N	1	P	0.47253	0.892	P	0.61800	0.894	T	0.57283	-0.7838	9	0.87932	D	0	.	10.2279	0.43236	0.2004:0.7996:0.0:0.0	.	395	Q9Y5F2	PCDBB_HUMAN	F	30;395;83	ENSP00000440344:S30F;ENSP00000346802:S395F	ENSP00000346802:S395F	S	+	2	0	PCDHB11	140560715	0.000000	0.05858	0.001000	0.08648	0.952000	0.60782	0.445000	0.21677	0.372000	0.24591	0.306000	0.20318	TCT		0.458	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		7	172	0	0	0	1	0	7	172				
UBXN6	80700	broad.mit.edu	37	19	4454089	4454089	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:4454089C>T	ENST00000301281.6	-	2	209	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGGCCTTTTCCCTGGGAACA	0.662																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.e2-1		UBX domain protein 6							100.0	113.0	108.0					19																	4454089		2203	4300	6503	SO:0001630	splice_region_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454089C>T	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.84-1G>A	19.37:g.4454089C>T						UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	p.E29_splice	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	209	-			29					D6W626|Q96AH1|Q96IK9|Q9BZV0	Splice_Site	SNP	ENST00000301281.6	37	c.83_splice	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	5.551	0.286582	0.10513	.	.	ENSG00000167671	ENST00000301281	T	0.41400	1.0	4.13	4.13	0.48395	.	0.403521	0.23500	U	0.047510	T	0.40694	0.1127	M	0.70275	2.135	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.34850	-0.9812	10	0.36615	T	0.2	-12.6099	11.349	0.49577	0.0:0.8166:0.1834:0.0	.	29	Q9BZV1	UBXN6_HUMAN	K	29	ENSP00000301281:E29K	ENSP00000301281:E29K	E	-	1	0	UBXN6	4405089	1.000000	0.71417	0.997000	0.53966	0.172000	0.22775	1.721000	0.38032	1.850000	0.53721	0.484000	0.47621	GAA		0.662	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241	Missense_Mutation	9	216	0	0	0	1	0	9	216				
MCMDC2	157777	broad.mit.edu	37	8	67790890	67790890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:67790890C>T	ENST00000422365.2	+	6	734	c.563C>T	c.(562-564)gCa>gTa	p.A188V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.A188V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A125V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A188V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.A188V|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	188					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						AATCTATGTGCATCTTCACTT	0.303																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(562-564)gCa>gTa		minichromosome maintenance domain containing 2							136.0	140.0	139.0					8																	67790890		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67790890C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.563C>T	8.37:g.67790890C>T	ENSP00000413632:p.Ala188Val					MCMDC2_ENST00000396592.3_Missense_Mutation_p.A188V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A188V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.A188V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A125V|MCMDC2_ENST00000469823.1_3'UTR	p.A188V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			6	734	+			188					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.563C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944887	0.53079	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32023	1.91;1.94;1.47;1.94;1.91	5.66	4.76	0.60689	.	0.498628	0.23316	N	0.049507	T	0.26376	0.0644	L	0.36672	1.1	0.27949	N	0.937222	B;B;B;B	0.26845	0.161;0.1;0.1;0.05	B;B;B;B	0.23852	0.049;0.022;0.022;0.049	T	0.08868	-1.0701	10	0.31617	T	0.26	-1.0408	15.7182	0.77685	0.1378:0.8622:0.0:0.0	.	125;188;188;188	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	V	60;188;188;188;188;125	ENSP00000379837:A188V;ENSP00000413632:A188V;ENSP00000428037:A188V;ENSP00000317234:A188V;ENSP00000445629:A125V	ENSP00000317234:A188V	A	+	2	0	C8orf45	67953444	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.795000	0.47861	1.312000	0.45043	0.591000	0.81541	GCA		0.303	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		8	173	0	0	0	1	0	8	173				
OLFML2B	25903	broad.mit.edu	37	1	161989809	161989809	+	Missense_Mutation	SNP	G	G	A	rs142774017	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:161989809G>A	ENST00000294794.3	-	2	761	c.338C>T	c.(337-339)tCg>tTg	p.S113L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S113L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	113					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACACTTGCACGACGAGCCTGA	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		19826	0.0		0.0	False		,,,				2504	0.002					ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(337-339)tCg>tTg		olfactomedin-like 2B		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	91.0		338	4.6	0.9	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OLFML2B	NM_015441.1	145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	113/751	161989809	2,13004	2203	4300	6503	SO:0001583	missense	25903							g.chr1:161989809G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.338C>T	1.37:g.161989809G>A	ENSP00000294794:p.Ser113Leu					OLFML2B_ENST00000367940.2_Missense_Mutation_p.S113L	p.S113L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		2	761	-	all_hematologic(112;0.156)		113					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.338C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085480	0.36758	2.27E-4	1.16E-4	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.38560	1.13;1.13	4.64	4.64	0.57946	.	.	.	.	.	T	0.15305	0.0369	L	0.36672	1.1	0.28569	N	0.910737	P;P	0.45827	0.701;0.867	B;B	0.30943	0.06;0.122	T	0.16660	-1.0395	8	0.87932	D	0	.	10.4505	0.44520	0.0:0.0:0.8058:0.1942	.	113;113	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	113	ENSP00000294794:S113L;ENSP00000356917:S113L	ENSP00000294794:S113L	S	-	2	0	OLFML2B	160256433	0.978000	0.34361	0.924000	0.36721	0.279000	0.26890	2.206000	0.42779	2.575000	0.86900	0.561000	0.74099	TCG		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		5	94	0	0	0	1	0	5	94				
FRMPD4	9758	broad.mit.edu	37	X	12728536	12728536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:12728536G>A	ENST00000380682.1	+	14	1995	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	497	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTTCTGATGGAATCCTCAGA	0.443																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1489-1491)Gaa>Aaa		FERM and PDZ domain containing 4							212.0	197.0	202.0					X																	12728536		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12728536G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1489G>A	X.37:g.12728536G>A	ENSP00000370057:p.Glu497Lys						p.E497K	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			14	1995	+			497			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1489G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005062	0.93287	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.12039	2.72	5.47	5.47	0.80525	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.75777	2.31	0.58432	D	0.99999	D;P	0.76494	0.999;0.938	D;P	0.76071	0.987;0.694	T	0.27226	-1.0080	10	0.66056	D	0.02	.	18.3847	0.90463	0.0:0.0:1.0:0.0	.	489;497	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	497;488;486	ENSP00000370057:E497K	ENSP00000304583:E486K	E	+	1	0	FRMPD4	12638457	1.000000	0.71417	0.997000	0.53966	0.804000	0.45430	9.378000	0.97191	2.281000	0.76405	0.600000	0.82982	GAA		0.443	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		9	151	0	0	0	1	0	9	151				
RXFP2	122042	broad.mit.edu	37	13	32332413	32332413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:32332413G>A	ENST00000298386.2	+	2	184	c.113G>A	c.(112-114)gGt>gAt	p.G38D	RXFP2_ENST00000380314.1_Missense_Mutation_p.G38D	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	38					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTGACTCAAGGTAGCATGATC	0.438																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(112-114)gGt>gAt		relaxin/insulin-like family peptide receptor 2							186.0	173.0	177.0					13																	32332413		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32332413G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.113G>A	13.37:g.32332413G>A	ENSP00000298386:p.Gly38Asp					RXFP2_ENST00000380314.1_Missense_Mutation_p.G38D	p.G38D	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	2	184	+		Lung SC(185;0.0262)	38					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.113G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040834	0.19669	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.73363	-0.74;-0.64	5.59	-0.298	0.12814	.	0.687066	0.14321	N	0.327038	T	0.47838	0.1467	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.26643	-1.0097	10	0.32370	T	0.25	.	5.162	0.15066	0.3025:0.2522:0.4453:0.0	.	38;38	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	D	38	ENSP00000369670:G38D;ENSP00000298386:G38D	ENSP00000298386:G38D	G	+	2	0	RXFP2	31230413	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.686000	0.25392	-0.139000	0.11414	-0.960000	0.02634	GGT		0.438	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		9	166	0	0	0	1	0	9	166				
PKD1L2	114780	broad.mit.edu	37	16	81181078	81181078	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:81181078C>T	ENST00000525539.1	-	0	5012				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGATGGCACCTTGAGAGCTT	0.547																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							74.0	76.0	75.0					16																	81181078		2004	4167	6171			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181078C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181078C>T						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	5012	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			7	103	0	0	0	1	0	7	103				
TG	7038	broad.mit.edu	37	8	134034304	134034304	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:134034304G>A	ENST00000220616.4	+	40	6985	c.6945G>A	c.(6943-6945)ccG>ccA	p.P2315P	TG_ENST00000519543.1_Silent_p.P448P|TG_ENST00000377869.1_Silent_p.P2258P|TG_ENST00000542445.1_Silent_p.P685P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2315					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)		AAGGATGGCCGGCTATCGACG	0.562																																						ENST00000220616.4																			0				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						c.(6943-6945)ccG>ccA		thyroglobulin							142.0	123.0	130.0					8																	134034304		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134034304G>A	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.6945G>A	8.37:g.134034304G>A						TG_ENST00000519543.1_Silent_p.P448P|TG_ENST00000377869.1_Silent_p.P2258P|TG_ENST00000542445.1_Silent_p.P685P	p.P2315P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	40	6985	+	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)	2315					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.6945G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.236	0.042736	0.08196	.	.	ENSG00000042832	ENST00000519178;ENST00000518108	.	.	.	5.84	0.29	0.15728	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	.	5.3644	0.16105	0.2845:0.2714:0.4441:0.0	.	.	.	.	S	771;111	.	.	G	+	1	0	TG	134103486	0.034000	0.19679	0.000000	0.03702	0.000000	0.00434	0.457000	0.21875	0.093000	0.17368	-1.263000	0.01449	GGC		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	139	0	0	0	1	0	7	139				
CYP2C9	1559	broad.mit.edu	37	10	96698526	96698526	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:96698526C>T	ENST00000260682.6	+	1	99	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	29					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGGAAAACTCCCTCCTGGCC	0.463																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(85-87)ctC>ctT		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						163.0	159.0	160.0					10																	96698526		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96698526C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.87C>T	10.37:g.96698526C>T						CYP2C9_ENST00000461906.1_3'UTR	p.L29L	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	1	99	+		Colorectal(252;0.0902)	29					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.87C>T	CCDS7437.1																																																																																				0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		12	229	0	0	0	1	0	12	229				
TSIX	9383	broad.mit.edu	37	X	73045957	73045957	+	lincRNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:73045957C>T	ENST00000604411.1	+	0	33918				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CACCTAAGCTCAAAGAAGGAA	0.498																																						ENST00000604411.1																			0																				121.0	111.0	114.0					X																	73045957		876	1991	2867			9383							g.chrX:73045957C>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045957C>T						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	33918	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.498	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	90	0	0	0	1	0	7	90				
FGD2	221472	broad.mit.edu	37	6	36989323	36989323	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:36989323G>A	ENST00000274963.8	+	12	1440	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	423					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCGAGAAGCGGAATGAAACCT	0.597											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1267-1269)cgG>cgA		FYVE, RhoGEF and PH domain containing 2							57.0	51.0	53.0					6																	36989323		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36989323G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1269G>A	6.37:g.36989323G>A			OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	867		p.R423R	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			12	1440	+			423					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1269G>A	CCDS4829.1																																																																																				0.597	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		3	36	0	0	0	1	0	3	36				
PLEC	5339	broad.mit.edu	37	8	144995082	144995082	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144995082C>T	ENST00000322810.4	-	32	9487	c.9318G>A	c.(9316-9318)aaG>aaA	p.K3106K	PLEC_ENST00000436759.2_Silent_p.K2996K|PLEC_ENST00000345136.3_Silent_p.K2969K|PLEC_ENST00000354958.2_Silent_p.K2947K|PLEC_ENST00000354589.3_Silent_p.K2969K|PLEC_ENST00000357649.2_Silent_p.K2973K|PLEC_ENST00000356346.3_Silent_p.K2955K|PLEC_ENST00000398774.2_Silent_p.K2937K|PLEC_ENST00000527096.1_Silent_p.K2992K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3106	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGCCGGCCCTTCTGCTCCT	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9316-9318)aaG>aaA		plectin							21.0	24.0	23.0					8																	144995082		2078	4182	6260	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995082C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9318G>A	8.37:g.144995082C>T						PLEC_ENST00000357649.2_Silent_p.K2973K|PLEC_ENST00000436759.2_Silent_p.K2996K|PLEC_ENST00000354958.2_Silent_p.K2947K|PLEC_ENST00000527096.1_Silent_p.K2992K|PLEC_ENST00000398774.2_Silent_p.K2937K|PLEC_ENST00000354589.3_Silent_p.K2969K|PLEC_ENST00000356346.3_Silent_p.K2955K|PLEC_ENST00000345136.3_Silent_p.K2969K	p.K3106K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9487	-			3106			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.9318G>A	CCDS43772.1																																																																																				0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	46	0	0	0	1	0	14	46				
DCC	1630	broad.mit.edu	37	18	50683730	50683730	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr18:50683730C>T	ENST00000442544.2	+	8	1882	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Silent_p.I77I|DCC_ENST00000412726.1_Silent_p.I270I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	422					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTAGCTATCCCAAGCTCCA	0.547																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1264-1266)atC>atT		deleted in colorectal carcinoma							190.0	178.0	182.0					18																	50683730		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683730C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1266C>T	18.37:g.50683730C>T						DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Silent_p.I77I|DCC_ENST00000412726.1_Silent_p.I270I	p.I422I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1882	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	422						Silent	SNP	ENST00000442544.2	37	c.1266C>T	CCDS11952.1																																																																																				0.547	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		8	167	0	0	0	1	0	8	167				
LILRA2	11027	broad.mit.edu	37	19	55087485	55087485	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55087485C>T	ENST00000251377.3	+	7	1297	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.A388A|LILRA2_ENST00000251376.3_Silent_p.A388A|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.A376A			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	388	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCTCAGCCCACGTGGGGA	0.617																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(1162-1164)gcC>gcT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							122.0	104.0	110.0					19																	55087485		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55087485C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1164C>T	19.37:g.55087485C>T						LILRA2_ENST00000391738.3_Silent_p.A388A|LILRA2_ENST00000251376.3_Silent_p.A388A|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.A376A	p.A388A						GBM - Glioblastoma multiforme(193;0.0963)	7	1297	+								O75020	Silent	SNP	ENST00000251377.3	37	c.1164C>T	CCDS46179.1																																																																																				0.617	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			6	117	0	0	0	1	0	6	117				
CPN1	1369	broad.mit.edu	37	10	101808558	101808558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:101808558G>A	ENST00000370418.3	-	8	1438	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	396					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACTGTCTCTGGGTCATACCC	0.483																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1186-1188)cCa>cTa		carboxypeptidase N, polypeptide 1							169.0	134.0	146.0					10																	101808558		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101808558G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1187C>T	10.37:g.101808558G>A	ENSP00000359446:p.Pro396Leu						p.P396L	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	8	1438	-		Colorectal(252;0.234)	396					B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.1187C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007842	0.19199	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.45668	0.89;0.89	5.5	4.58	0.56647	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.355574	0.32357	N	0.006205	T	0.44117	0.1278	L	0.59967	1.855	0.18873	N	0.999989	B	0.28933	0.228	B	0.38156	0.266	T	0.45673	-0.9245	10	0.62326	D	0.03	-35.2775	10.1721	0.42915	0.1564:0.0:0.8436:0.0	.	396	P15169	CBPN_HUMAN	L	396;193	ENSP00000359446:P396L;ENSP00000410895:P193L	ENSP00000359446:P396L	P	-	2	0	CPN1	101798548	0.997000	0.39634	0.227000	0.23927	0.070000	0.16714	4.510000	0.60455	2.595000	0.87683	0.644000	0.83932	CCA		0.483	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		6	135	0	0	0	1	0	6	135				
TANC2	26115	broad.mit.edu	37	17	61499145	61499145	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:61499145C>T	ENST00000424789.2	+	25	5806	c.5802C>T	c.(5800-5802)ctC>ctT	p.L1934L	TANC2_ENST00000389520.4_Silent_p.L1944L|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGGAGACCTCTTGGAGCGAG	0.542																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5800-5802)ctC>ctT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							78.0	79.0	78.0					17																	61499145		2035	4193	6228	SO:0001819	synonymous_variant	26115						binding	g.chr17:61499145C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5802C>T	17.37:g.61499145C>T						RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1944L	p.L1934L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5806	+			1934					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.5802C>T	CCDS45754.1																																																																																				0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			8	106	0	0	0	1	0	8	106				
CCT8L2	150160	broad.mit.edu	37	22	17071881	17071881	+	Silent	SNP	G	G	A	rs529271182		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:17071881G>A	ENST00000359963.3	-	1	1819	c.1560C>T	c.(1558-1560)atC>atT	p.I520I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	520					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCACTACGATTTCATCTA	0.488													g|||	1	0.000199681	0.0	0.0	5008	,	,		18044	0.001		0.0	False		,,,				2504	0.0					ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1558-1560)atC>atT		chaperonin containing TCP1, subunit 8 (theta)-like 2							119.0	108.0	111.0					22																	17071881		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071881G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1560C>T	22.37:g.17071881G>A							p.I520I	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1819	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	520					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.1560C>T	CCDS13738.1																																																																																				0.488	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			15	189	0	0	0	1	0	15	189				
OR5M8	219484	broad.mit.edu	37	11	56258723	56258723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56258723G>A	ENST00000327216.2	-	1	148	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATCATGCCAAGGTTCCCTGCC	0.517																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(124-126)Ctt>Ttt		olfactory receptor, family 5, subfamily M, member 8							98.0	99.0	99.0					11																	56258723		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258723G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.124C>T	11.37:g.56258723G>A	ENSP00000323354:p.Leu42Phe						p.L42F	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	148	-	Esophageal squamous(21;0.00352)		42					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.124C>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210774	0.39102	.	.	ENSG00000181371	ENST00000327216	T	0.00438	7.42	4.13	0.687	0.18020	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29185	U	0.012891	T	0.00468	0.0015	M	0.69358	2.11	0.09310	N	1	P	0.45044	0.849	P	0.45037	0.467	T	0.48658	-0.9016	10	0.72032	D	0.01	-1.7321	8.8514	0.35201	0.0:0.2977:0.55:0.1523	.	42	Q8NGP6	OR5M8_HUMAN	F	42	ENSP00000323354:L42F	ENSP00000323354:L42F	L	-	1	0	OR5M8	56015299	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-4.750000	0.00190	0.287000	0.22375	0.539000	0.68188	CTT		0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		11	183	0	0	0	1	0	11	183				
DPYSL2	1808	broad.mit.edu	37	8	26492317	26492317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:26492317C>T	ENST00000311151.5	+	8	1124	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	DPYSL2_ENST00000521913.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.R202C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	238					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCCGTGAATCGTGCCATCAC	0.582																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(712-714)Cgt>Tgt		dihydropyrimidinase-like 2							150.0	122.0	131.0					8																	26492317		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26492317C>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.712C>T	8.37:g.26492317C>T	ENSP00000309539:p.Arg238Cys					DPYSL2_ENST00000523027.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521983.1_3'UTR	p.R238C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	8	1124	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	238					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.712C>T	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757494	0.89843	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.8	5.8	0.92144	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.98198	1.0466	10	0.87932	D	0	-12.3761	20.0537	0.97638	0.0:1.0:0.0:0.0	.	238;238;294	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	C	202;238;238;202	ENSP00000427985:R202C;ENSP00000309539:R238C;ENSP00000428909:R238C;ENSP00000431117:R202C	ENSP00000309539:R238C	R	+	1	0	DPYSL2	26548234	1.000000	0.71417	0.964000	0.40570	0.413000	0.31143	6.067000	0.71193	2.758000	0.94735	0.561000	0.74099	CGT		0.582	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		6	127	0	0	0	1	0	6	127				
MCM7	4176	broad.mit.edu	37	7	99696329	99696329	+	Missense_Mutation	SNP	G	G	A	rs200625974		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:99696329G>A	ENST00000303887.5	-	6	1237	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	MCM7_ENST00000343023.6_Missense_Mutation_p.P198S|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000354230.3_Missense_Mutation_p.P22S	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	198					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGAAAGTGGGAGACTGGATC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18426	0.001		0.0	False		,,,				2504	0.0					ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(592-594)Ccc>Tcc		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						74.0	79.0	77.0					7																	99696329		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696329G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.592C>T	7.37:g.99696329G>A	ENSP00000307288:p.Pro198Ser					MCM7_ENST00000354230.3_Missense_Mutation_p.P22S|MCM7_ENST00000343023.6_Missense_Mutation_p.P198S	p.P198S	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			6	1237	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		198					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.592C>T	CCDS5683.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.65	3.670587	0.67814	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230;ENST00000425308	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	4.97	4.97	0.65823	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	L	0.55990	1.75	0.80722	D	1	P	0.38420	0.63	B	0.41813	0.367	T	0.38607	-0.9653	10	0.12430	T	0.62	-13.7644	15.7841	0.78289	0.0:0.0:1.0:0.0	.	198	P33993	MCM7_HUMAN	S	198;198;135;91;22;91	ENSP00000344006:P198S;ENSP00000307288:P198S;ENSP00000346171:P22S;ENSP00000411295:P91S	ENSP00000307288:P198S	P	-	1	0	MCM7	99534265	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.887000	0.56197	2.568000	0.86640	0.462000	0.41574	CCC		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			6	108	0	0	0	1	0	6	108				
IREB2	3658	broad.mit.edu	37	15	78755299	78755299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78755299G>A	ENST00000258886.8	+	3	291	c.142G>A	c.(142-144)Gct>Act	p.A48T	IREB2_ENST00000560440.1_Missense_Mutation_p.A48T	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	48					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTGTTGGAAGCTGCTGTACG	0.323																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(142-144)Gct>Act		iron-responsive element binding protein 2							174.0	168.0	170.0					15																	78755299		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755299G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.142G>A	15.37:g.78755299G>A	ENSP00000258886:p.Ala48Thr					IREB2_ENST00000560440.1_Missense_Mutation_p.A48T	p.A48T	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	291	+			48					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.142G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918853	0.73098	.	.	ENSG00000136381	ENST00000258886	T	0.17528	2.27	5.87	5.87	0.94306	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.091894	0.85682	D	0.000000	T	0.23846	0.0577	M	0.66939	2.045	0.51012	D	0.999907	P;P	0.52061	0.95;0.843	B;B	0.42062	0.374;0.289	T	0.01537	-1.1330	10	0.87932	D	0	-12.9581	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	48;48	P48200;Q8WVK6	IREB2_HUMAN;.	T	48	ENSP00000258886:A48T	ENSP00000258886:A48T	A	+	1	0	IREB2	76542354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.367000	0.52350	2.941000	0.99782	0.655000	0.94253	GCT		0.323	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		9	204	0	0	0	1	0	9	204				
EFCAB12	90288	broad.mit.edu	37	3	129134155	129134155	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129134155G>A	ENST00000505956.1	-	4	933	c.771C>T	c.(769-771)atC>atT	p.I257I	EFCAB12_ENST00000326085.3_Silent_p.I257I	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	257							calcium ion binding (GO:0005509)										TATTGGCCAGGATATCCATGG	0.557																																						ENST00000505956.1																			0											c.(769-771)atC>atT		EF-hand calcium binding domain 12							154.0	159.0	158.0					3																	129134155		2102	4228	6330	SO:0001819	synonymous_variant	90288							g.chr3:129134155G>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.771C>T	3.37:g.129134155G>A						EFCAB12_ENST00000326085.3_Silent_p.I257I	p.I257I	NM_207307.1	NP_997190.1					4	933	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.771C>T	CCDS54638.1																																																																																				0.557	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		8	44	0	0	0	1	0	8	44				
LPHN2	23266	broad.mit.edu	37	1	82436123	82436123	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:82436123G>A	ENST00000370728.1	+	18	3492	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370725.1_Silent_p.R949R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.R949R|LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R|LPHN2_ENST00000394879.1_Silent_p.R936R			O95490	LPHN2_HUMAN	latrophilin 2	949					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTCAAGGAAAAAATATT	0.378																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2845-2847)agG>agA		latrophilin 2							129.0	129.0	129.0					1																	82436123		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436123G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2847G>A	1.37:g.82436123G>A						LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000370725.1_Silent_p.R949R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000394879.1_Silent_p.R936R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000271029.4_Silent_p.R949R	p.R949R			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3492	+			949					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.2847G>A		.	.	.	.	.	.	.	.	.	.	G	6.091	0.385101	0.11524	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.83	2.95	0.34219	.	.	.	.	.	T	0.46328	0.1387	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	.	9.8755	0.41200	0.3279:0.0:0.6721:0.0	.	.	.	.	E	817	.	.	G	+	2	0	LPHN2	82208711	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.837000	0.39201	0.826000	0.34661	0.591000	0.81541	GGA		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		8	146	0	0	0	1	0	8	146				
NLRX1	79671	broad.mit.edu	37	11	119045231	119045231	+	Missense_Mutation	SNP	G	G	A	rs200007524	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:119045231G>A	ENST00000409109.1	+	6	1506	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	NLRX1_ENST00000409991.1_Missense_Mutation_p.G307S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G307S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G307S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G307S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	307	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCGCTATGGTGAGATCTG	0.572																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(919-921)Ggt>Agt		NLR family member X1							143.0	143.0	143.0					11																	119045231		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045231G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.919G>A	11.37:g.119045231G>A	ENSP00000387334:p.Gly307Ser					NLRX1_ENST00000525863.1_Missense_Mutation_p.G307S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G307S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G307S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G307S	p.G307S			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1506	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	307			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.919G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805637	0.90623	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	6.07	6.07	0.98685	.	0.072974	0.56097	D	0.000035	T	0.76040	0.3932	N	0.19112	0.55	0.53005	D	0.999965	D;P	0.55800	0.973;0.94	P;P	0.53593	0.73;0.65	T	0.70894	-0.4748	10	0.19590	T	0.45	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	307;307	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	307	ENSP00000386851:G307S;ENSP00000292199:G307S;ENSP00000386858:G307S;ENSP00000387334:G307S;ENSP00000433442:G307S	ENSP00000292199:G307S	G	+	1	0	NLRX1	118550441	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.389000	0.97243	2.884000	0.98904	0.655000	0.94253	GGT		0.572	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		16	268	0	0	0	1	0	16	268				
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284																																						ENST00000366769.3																			2	Substitution - Missense(2)	p.R123C(2)	large_intestine(2)	NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(367-369)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							94.0	91.0	92.0					1																	227387341		2202	4295	6497	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227387341G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.367C>T	1.37:g.227387341G>A	ENSP00000355731:p.Arg123Cys					CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C	p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			4	1658	-		all_cancers(173;0.156)|Prostate(94;0.0792)	123			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.367C>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944970	0.92593	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.981;0.998;0.99	D	0.85623	0.1265	10	0.87932	D	0	.	18.9977	0.92819	0.0:0.0:1.0:0.0	.	123;123;123;123	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	C	123	ENSP00000355731:R123C;ENSP00000355729:R123C;ENSP00000335341:R123C;ENSP00000355728:R123C;ENSP00000355726:R123C;ENSP00000443275:R123C;ENSP00000355727:R123C	ENSP00000335341:R123C	R	-	1	0	CDC42BPA	225453964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.561000	0.86390	0.655000	0.94253	CGT		0.284	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		7	89	0	0	0	1	0	7	89				
B3GALT4	8705	broad.mit.edu	37	6	33246189	33246189	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33246189C>T	ENST00000451237.1	+	1	1273	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	331					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGCTGACGTCCCACAGGCTGG	0.632																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(991-993)tcC>tcT		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							93.0	104.0	100.0					6																	33246189		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246189C>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.993C>T	6.37:g.33246189C>T							p.S331S	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1273	+			331						Silent	SNP	ENST00000451237.1	37	c.993C>T	CCDS34425.1																																																																																				0.632	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			12	181	0	0	0	1	0	12	181				
CCDC37	348807	broad.mit.edu	37	3	126142196	126142196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:126142196G>A	ENST00000352312.1	+	12	1210	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K|CCDC37_ENST00000393425.1_Missense_Mutation_p.E372K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCCCACGCAGGAGGACACCGA	0.667																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(1114-1116)Gag>Aag		coiled-coil domain containing 37							41.0	37.0	38.0					3																	126142196		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126142196G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1111G>A	3.37:g.126142196G>A	ENSP00000344749:p.Glu371Lys					CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K|CCDC37_ENST00000352312.1_Missense_Mutation_p.E371K	p.E372K			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	12	1213	+			371					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.1114G>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180701	0.38511	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.39056	1.1;1.1;1.1	3.22	2.35	0.29111	.	1.386890	0.04419	N	0.367264	T	0.36991	0.0987	L	0.46614	1.455	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.39027	0.288;0.15	T	0.22906	-1.0203	10	0.14252	T	0.57	-11.2918	6.3486	0.21363	0.1357:0.0:0.8643:0.0	.	372;371	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	371;372;372	ENSP00000344749:E371K;ENSP00000377076:E372K;ENSP00000423046:E372K	ENSP00000344749:E371K	E	+	1	0	CCDC37	127624886	0.101000	0.21875	0.036000	0.18154	0.533000	0.34776	0.795000	0.26972	0.922000	0.37019	0.491000	0.48974	GAG		0.667	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		5	45	0	0	0	1	0	5	45				
OR5W2	390148	broad.mit.edu	37	11	55681906	55681906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55681906C>T	ENST00000344514.1	-	1	152	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTGGTAATCCATTCTGATTA	0.388																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(151-153)atG>atA		olfactory receptor, family 5, subfamily W, member 2							102.0	100.0	101.0					11																	55681906		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681906C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.153G>A	11.37:g.55681906C>T	ENSP00000342448:p.Met51Ile						p.M51I	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	152	-			51						Missense_Mutation	SNP	ENST00000344514.1	37	c.153G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.989602	0.00439	.	.	ENSG00000187612	ENST00000344514	T	0.02916	4.11	5.01	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	1.326200	0.05367	N	0.534730	T	0.02047	0.0064	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45160	-0.9280	10	0.09590	T	0.72	.	5.0373	0.14441	0.0:0.6351:0.1801:0.1847	.	51	Q8NH69	OR5W2_HUMAN	I	51	ENSP00000342448:M51I	ENSP00000342448:M51I	M	-	3	0	OR5W2	55438482	0.000000	0.05858	0.009000	0.14445	0.044000	0.14063	-1.912000	0.01582	2.311000	0.77944	0.549000	0.68633	ATG		0.388	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		7	92	0	0	0	1	0	7	92				
NCOA5	57727	broad.mit.edu	37	20	44691089	44691089	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:44691089G>A	ENST00000290231.6	-	8	1754	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	530	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGATACCTGTGGAAGACACAG	0.577																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1588-1590)tcC>tcT		nuclear receptor coactivator 5							50.0	46.0	47.0					20																	44691089		2203	4300	6503	SO:0001819	synonymous_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691089G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1590C>T	20.37:g.44691089G>A							p.S530S	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1754	-		Myeloproliferative disorder(115;0.0122)	530			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	ENST00000290231.6	37	c.1590C>T	CCDS13392.1																																																																																				0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		5	64	0	0	0	1	0	5	64				
PLAG1	5324	broad.mit.edu	37	8	57080775	57080775	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57080775G>A	ENST00000316981.3	-	4	533	c.54C>T	c.(52-54)gtC>gtT	p.V18V	PLAG1_ENST00000429357.2_Silent_p.V18V|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	18	Interacts with KPNA2.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCCTGAAGGGACTTTCTGGG	0.458			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(52-54)gtC>gtT		pleiomorphic adenoma gene 1							107.0	98.0	101.0					8																	57080775		2203	4300	6503	SO:0001819	synonymous_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57080775G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.54C>T	8.37:g.57080775G>A						PLAG1_ENST00000429357.2_Silent_p.V18V|PLAG1_ENST00000423799.2_Intron	p.V18V	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		4	533	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	18			Interacts with KPNA2.		B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	ENST00000316981.3	37	c.54C>T	CCDS6165.1																																																																																				0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		6	84	0	0	0	1	0	6	84				
CCL25	6370	broad.mit.edu	37	19	8122782	8122782	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:8122782C>T	ENST00000390669.3	+	4	473	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CCL25_ENST00000253451.4_Silent_p.S140S			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	141					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ggaatgtctccctcctgatat	0.483																																						ENST00000253451.4																			0				NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						c.(418-420)tcC>tcT		chemokine (C-C motif) ligand 25							158.0	149.0	152.0					19																	8122782		2027	4179	6206	SO:0001819	synonymous_variant	6370				chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	g.chr19:8122782C>T	U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.423C>T	19.37:g.8122782C>T						CCL25_ENST00000390669.3_Silent_p.S141S	p.S140S	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN			5	526	+			141					A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Silent	SNP	ENST00000390669.3	37	c.420C>T	CCDS12194.1																																																																																				0.483	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1	NM_005624		7	114	0	0	0	1	0	7	114				
ZNF618	114991	broad.mit.edu	37	9	116811378	116811378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:116811378T>C	ENST00000374126.5	+	15	1895	c.1796T>C	c.(1795-1797)gTg>gCg	p.V599A	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.V506A			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCACTGGGTGCAGAACGTG	0.602																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1516-1518)gTg>gCg		zinc finger protein 618							88.0	87.0	87.0					9																	116811378		2197	4280	6477	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811378T>C	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1796T>C	9.37:g.116811378T>C	ENSP00000363241:p.Val599Ala					ZNF618_ENST00000374126.5_Missense_Mutation_p.V599A|ZNF618_ENST00000470105.1_3'UTR	p.V506A	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1616	+			599					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1517T>C		.	.	.	.	.	.	.	.	.	.	T	14.35	2.509469	0.44660	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.25912	1.77;1.77	5.14	5.14	0.70334	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	.	.	.	0.80722	D	1	B;B;B	0.17465	0.005;0.022;0.011	B;B;B	0.18561	0.003;0.018;0.022	T	0.02917	-1.1094	9	0.51188	T	0.08	-18.196	14.4315	0.67254	0.0:0.0:0.0:1.0	.	566;599;506	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	A	599;506	ENSP00000363241:V599A;ENSP00000288466:V506A	ENSP00000288466:V506A	V	+	2	0	ZNF618	115851199	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.710000	0.68392	2.063000	0.61619	0.379000	0.24179	GTG		0.602	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		14	127	0	0	0	1	0	14	127				
DLG2	1740	broad.mit.edu	37	11	84028112	84028112	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:84028112G>A	ENST00000398301.2	-	1	270	c.77C>T	c.(76-78)aCc>aTc	p.T26I	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.T26I			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTGATCAGGGTGGGCGCACT	0.607																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(76-78)aCc>aTc		discs, large homolog 2 (Drosophila)							238.0	218.0	224.0					11																	84028112		876	1990	2866	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84028112G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.77C>T	11.37:g.84028112G>A	ENSP00000381346:p.Thr26Ile					DLG2_ENST00000398301.2_Missense_Mutation_p.T26I|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron	p.T26I	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	76	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398301.2	37	c.77C>T		.	.	.	.	.	.	.	.	.	.	G	10.46	1.355401	0.24512	.	.	ENSG00000150672	ENST00000280241;ENST00000398301	T;T	0.18657	2.71;2.2	5.72	4.8	0.61643	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.80722	D	1	B	0.16802	0.019	B	0.09377	0.004	T	0.12091	-1.0561	8	.	.	.	.	14.2497	0.66011	0.0727:0.0:0.9273:0.0	.	26	Q6ZSU2	.	I	26	ENSP00000280241:T26I;ENSP00000381346:T26I	.	T	-	2	0	DLG2	83705760	0.909000	0.30893	0.993000	0.49108	0.994000	0.84299	4.153000	0.58118	1.398000	0.46701	0.585000	0.79938	ACC		0.607	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		13	227	0	0	0	1	0	13	227				
GNA12	2768	broad.mit.edu	37	7	2854019	2854019	+	Intron	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:2854019G>A	ENST00000275364.3	-	2	472				GNA12_ENST00000544127.1_Intron|GNA12_ENST00000407904.3_Missense_Mutation_p.S20L	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTGCTTCCCGAACCCTGCAA	0.463																																						ENST00000407904.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(58-60)tCg>tTg		guanine nucleotide binding protein (G protein) alpha 12							80.0	73.0	75.0					7																	2854019		876	1991	2867	SO:0001627	intron_variant	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2854019G>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.310-19242C>T	7.37:g.2854019G>A						GNA12_ENST00000275364.3_Intron|GNA12_ENST00000544127.1_Intron	p.S20L			Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	2	387	-		Ovarian(82;0.0112)	0					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.59C>T	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041181	0.19669	.	.	ENSG00000146535	ENST00000407904	D	0.86562	-2.14	1.96	-1.55	0.08558	.	.	.	.	.	T	0.75860	0.3907	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61584	-0.7033	8	0.62326	D	0.03	.	2.0108	0.03487	0.3916:0.0:0.3508:0.2576	.	20	B3KXS2	.	L	20	ENSP00000385935:S20L	ENSP00000385935:S20L	S	-	2	0	GNA12	2820545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.422000	0.07043	-0.457000	0.07033	-0.150000	0.13652	TCG		0.463	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		4	71	0	0	0	1	0	4	71				
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(298-300)Gaa>Aaa		aldolase B, fructose-bisphosphate							291.0	262.0	272.0					9																	104192063		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192063C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.298G>A	9.37:g.104192063C>T	ENSP00000363988:p.Glu100Lys					ALDOB_ENST00000468981.2_Intron	p.E100K	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	422	-		Acute lymphoblastic leukemia(62;0.0559)	100					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.298G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424613	0.43020	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86164	-2.08	5.94	5.94	0.96194	Aldolase-type TIM barrel (1);	0.162008	0.56097	D	0.000025	T	0.73575	0.3604	N	0.05230	-0.09	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.68108	-0.5496	10	0.24483	T	0.36	-26.1218	12.6402	0.56705	0.0:0.9253:0.0:0.0747	.	100	P05062	ALDOB_HUMAN	K	100;27;100	ENSP00000363988:E100K	ENSP00000363986:E27K	E	-	1	0	ALDOB	103231884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.937000	0.63513	2.820000	0.97059	0.650000	0.86243	GAA		0.532	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			13	372	0	0	0	1	0	13	372				
LRIG3	121227	broad.mit.edu	37	12	59274507	59274507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:59274507G>A	ENST00000320743.3	-	13	1943	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	LRIG3_ENST00000379141.4_Missense_Mutation_p.R493W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	553	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCTTGGGCCCGGAGGTGTGCA	0.498			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1657-1659)Cgg>Tgg		leucine-rich repeats and immunoglobulin-like domains 3							134.0	114.0	121.0					12																	59274507		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274507G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1657C>T	12.37:g.59274507G>A	ENSP00000326759:p.Arg553Trp					LRIG3_ENST00000379141.4_Missense_Mutation_p.R493W	p.R553W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1943	-			553			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1657C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280110	0.59758	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.68479	-0.33;-0.33	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33895	N	0.004455	D	0.82412	0.5031	M	0.83118	2.625	0.80722	D	1	P;D	0.89917	0.903;1.0	B;D	0.97110	0.18;1.0	T	0.83200	-0.0079	9	.	.	.	.	13.9102	0.63862	0.0:0.0:0.7344:0.2656	.	493;553	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	W	493;553	ENSP00000368436:R493W;ENSP00000326759:R553W	.	R	-	1	2	LRIG3	57560774	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.361000	0.66092	2.873000	0.98535	0.561000	0.74099	CGG		0.498	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		7	104	0	0	0	1	0	7	104				
ARFGAP3	26286	broad.mit.edu	37	22	43206940	43206940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:43206940C>T	ENST00000263245.5	-	12	1294	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E315K|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E287K	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	359	Ser-rich.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCCACTGGCTCGTCAAAGTAA	0.468																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(1075-1077)Gag>Aag		ADP-ribosylation factor GTPase activating protein 3							86.0	84.0	84.0					22																	43206940		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43206940C>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1075G>A	22.37:g.43206940C>T	ENSP00000263245:p.Glu359Lys					ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E287K|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E315K	p.E359K	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			12	1294	-			359			Ser-rich.		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.1075G>A	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672218	0.29693	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119	T;T;T	0.05447	3.57;3.44;3.57	5.22	5.22	0.72569	.	0.902670	0.09596	N	0.780839	T	0.05868	0.0153	N	0.19112	0.55	0.33484	D	0.587834	B;B	0.32893	0.353;0.389	B;B	0.21708	0.03;0.036	T	0.31861	-0.9928	10	0.51188	T	0.08	-26.8528	15.6959	0.77499	0.0:1.0:0.0:0.0	.	315;359	E9PB03;Q9NP61	.;ARFG3_HUMAN	K	359;287;315	ENSP00000263245:E359K;ENSP00000393959:E287K;ENSP00000388791:E315K	ENSP00000263245:E359K	E	-	1	0	ARFGAP3	41536884	0.916000	0.31088	0.283000	0.24790	0.069000	0.16628	2.429000	0.44758	2.410000	0.81850	0.655000	0.94253	GAG		0.468	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		10	91	0	0	0	1	0	10	91				
CLCN4	1183	broad.mit.edu	37	X	10188788	10188788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:10188788C>T	ENST00000380833.4	+	12	2454	c.2063C>T	c.(2062-2064)cCa>cTa	p.P688L	CLCN4_ENST00000380829.1_Missense_Mutation_p.P657L|CLCN4_ENST00000421085.2_Missense_Mutation_p.P594L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	688					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCAACAGCCCACATCCCCTG	0.582																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2062-2064)cCa>cTa		chloride channel, voltage-sensitive 4							131.0	109.0	117.0					X																	10188788		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188788C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2063C>T	X.37:g.10188788C>T	ENSP00000370213:p.Pro688Leu					CLCN4_ENST00000380829.1_Missense_Mutation_p.P657L|CLCN4_ENST00000421085.2_Missense_Mutation_p.P594L	p.P688L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			12	2454	+			688					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2063C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.938125	0.73557	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.87334	-2.24;-2.24;-2.24	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.84433	2.695	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	D	0.87022	0.2129	10	0.56958	D	0.05	-33.4467	18.267	0.90055	0.0:1.0:0.0:0.0	.	688	P51793	CLCN4_HUMAN	L	688;657;594	ENSP00000370213:P688L;ENSP00000370209:P657L;ENSP00000405754:P594L	ENSP00000370209:P657L	P	+	2	0	CLCN4	10148788	1.000000	0.71417	0.934000	0.37439	0.958000	0.62258	7.618000	0.83043	2.253000	0.74438	0.591000	0.81541	CCA		0.582	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			12	114	0	0	0	1	0	12	114				
CYP2A7	1549	broad.mit.edu	37	19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1336-1338)aGa>aAa		cytochrome P450, family 2, subfamily A, polypeptide 7							17.0	22.0	20.0					19																	41381746		2180	4257	6437	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41381746C>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1337G>A	19.37:g.41381746C>T	ENSP00000301146:p.Arg446Lys					CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K|CTC-490E21.12_ENST00000601627.1_Intron	p.R446K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		9	1878	-			446					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1337G>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811920	0.50527	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69040	-0.37;-0.37	2.18	1.01	0.19927	.	0.000000	0.85682	U	0.000000	T	0.57110	0.2031	N	0.21448	0.665	0.19945	N	0.999941	B;B;B	0.30511	0.139;0.282;0.013	P;B;B	0.45829	0.494;0.329;0.194	T	0.54111	-0.8342	10	0.62326	D	0.03	.	4.6532	0.12605	0.2105:0.6503:0.0:0.1393	.	446;395;446	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	K	446;395	ENSP00000301146:R446K;ENSP00000291764:R395K	ENSP00000291764:R395K	R	-	2	0	CYP2A7	46073586	0.003000	0.15002	0.022000	0.16811	0.423000	0.31445	1.921000	0.40035	0.212000	0.20703	0.184000	0.17185	AGA		0.587	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		5	66	0	0	0	1	0	5	66				
ITGA10	8515	broad.mit.edu	37	1	145533441	145533441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:145533441G>A	ENST00000369304.3	+	12	1499	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S	ITGA10_ENST00000538811.1_Missense_Mutation_p.G311S|ITGA10_ENST00000539363.1_Missense_Mutation_p.G299S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	442					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTTTGCGGGGTGGACGCCG	0.517																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1324-1326)Ggt>Agt		integrin, alpha 10							125.0	138.0	134.0					1																	145533441		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533441G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1324G>A	1.37:g.145533441G>A	ENSP00000358310:p.Gly442Ser					ITGA10_ENST00000539363.1_Missense_Mutation_p.G299S|ITGA10_ENST00000538811.1_Missense_Mutation_p.G311S	p.G442S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1499	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		442					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1324G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	9.200	1.028307	0.19512	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.79845	-1.31;-1.31;-1.31	5.04	2.19	0.27852	.	0.130764	0.51477	D	0.000094	T	0.57946	0.2088	L	0.33293	1	0.32663	N	0.517813	B;B;B;B	0.25312	0.046;0.123;0.027;0.015	B;B;B;B	0.37650	0.041;0.255;0.014;0.03	T	0.49234	-0.8961	10	0.41790	T	0.15	.	6.7643	0.23558	0.3625:0.0:0.6375:0.0	.	408;311;299;442	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	S	442;408;299;311	ENSP00000358310:G442S;ENSP00000439894:G299S;ENSP00000440011:G311S	ENSP00000358310:G442S	G	+	1	0	ITGA10	144244798	0.300000	0.24435	0.909000	0.35828	0.991000	0.79684	0.728000	0.26013	0.332000	0.23536	-0.136000	0.14681	GGT		0.517	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		11	158	0	0	0	1	0	11	158				
OR5A1	219982	broad.mit.edu	37	11	59210690	59210690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:59210690C>T	ENST00000302030.2	+	1	74	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	17						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATGTTCATCCTCCTGGGATT	0.522																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(49-51)Ctc>Ttc		olfactory receptor, family 5, subfamily A, member 1							122.0	112.0	116.0					11																	59210690		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210690C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.49C>T	11.37:g.59210690C>T	ENSP00000303096:p.Leu17Phe						p.L17F	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	74	+			17					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.49C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615657	0.14129	.	.	ENSG00000172320	ENST00000302030	T	0.00384	7.6	6.06	-2.41	0.06562	.	0.804661	0.10761	N	0.637179	T	0.00300	0.0009	M	0.63169	1.94	0.26239	N	0.978894	B	0.18461	0.028	B	0.16289	0.015	T	0.16453	-1.0402	10	0.33940	T	0.23	-16.11	7.2261	0.26016	0.1096:0.378:0.0:0.5124	.	17	Q8NGJ0	OR5A1_HUMAN	F	17	ENSP00000303096:L17F	ENSP00000303096:L17F	L	+	1	0	OR5A1	58967266	0.002000	0.14202	0.814000	0.32528	0.272000	0.26649	-0.095000	0.11077	-0.437000	0.07243	-0.142000	0.14014	CTC		0.522	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		7	92	0	0	0	1	0	7	92				
SLC4A4	8671	broad.mit.edu	37	4	72352685	72352685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:72352685G>A	ENST00000264485.5	+	15	2041	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642N|SLC4A4_ENST00000340595.3_Missense_Mutation_p.D598N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	642					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AATATCTAATGACACCACACT	0.289																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1792-1794)Gac>Aac		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							79.0	72.0	75.0					4																	72352685		2202	4297	6499	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72352685G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1924G>A	4.37:g.72352685G>A	ENSP00000264485:p.Asp642Asn					SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D642N	p.D598N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1988	+			642					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1792G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015318	0.07959	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.55	5.55	0.83447	Bicarbonate transporter, C-terminal (1);	1.340640	0.04068	N	0.307549	T	0.58921	0.2156	N	0.00873	-1.125	0.34061	D	0.657313	B;P;B;B	0.38440	0.0;0.631;0.001;0.0	B;P;B;B	0.46076	0.003;0.503;0.003;0.003	T	0.57236	-0.7846	10	0.08179	T	0.78	.	10.2862	0.43568	0.0868:0.0:0.9132:0.0	.	642;642;598;642	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	N	642;642;642;598	ENSP00000264485:D642N;ENSP00000393557:D642N;ENSP00000307349:D642N;ENSP00000344272:D598N	ENSP00000264485:D642N	D	+	1	0	SLC4A4	72571549	0.994000	0.37717	0.991000	0.47740	0.165000	0.22458	2.697000	0.47060	2.885000	0.99019	0.655000	0.94253	GAC		0.289	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	57	0	0	0	1	0	6	57				
SLC43A3	29015	broad.mit.edu	37	11	57176768	57176768	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:57176768G>A	ENST00000395123.2	-	13	1555	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	SLC43A3_ENST00000395124.1_Silent_p.F417F|RP11-872D17.8_ENST00000529411.1_Silent_p.F61F|SLC43A3_ENST00000529554.1_Silent_p.F417F|SLC43A3_ENST00000533524.1_Silent_p.F430F|SLC43A3_ENST00000352187.1_Silent_p.F417F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	417					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCTCTGAAGGGAAACTGGGGA	0.607																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1249-1251)ttC>ttT		solute carrier family 43, member 3							91.0	98.0	95.0					11																	57176768		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57176768G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1251C>T	11.37:g.57176768G>A						SLC43A3_ENST00000529554.1_Silent_p.F417F|SLC43A3_ENST00000395124.1_Silent_p.F417F|SLC43A3_ENST00000533524.1_Silent_p.F430F|RP11-872D17.8_ENST00000529411.1_Silent_p.F61F|SLC43A3_ENST00000352187.1_Silent_p.F417F	p.F417F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			13	1555	-			417					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1251C>T	CCDS7956.1																																																																																				0.607	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		5	81	0	0	0	1	0	5	81				
ASTN2	23245	broad.mit.edu	37	9	119903744	119903744	+	Silent	SNP	C	C	T	rs572955651	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119903744C>T	ENST00000313400.4	-	4	1129	c.1029G>A	c.(1027-1029)gcG>gcA	p.A343A	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.A343A|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	343					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTCCTGAGTCGCCTCAGCTG	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		19491	0.002		0.0	False		,,,				2504	0.0					ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1027-1029)gcG>gcA		astrotactin 2							60.0	52.0	55.0					9																	119903744		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903744C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1029G>A	9.37:g.119903744C>T						ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.A343A	p.A343A			O75129	ASTN2_HUMAN			4	1129	-			343					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1029G>A																																																																																					0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		4	57	0	0	0	1	0	4	57				
CCER1	196477	broad.mit.edu	37	12	91347568	91347568	+	Missense_Mutation	SNP	C	C	T	rs374196591|rs558083520	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:91347568C>T	ENST00000358859.2	-	1	1385	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	318	Glu-rich.																tcttcttcctcctcatcttcg	0.547																																						ENST00000358859.2																			0											c.(952-954)Gag>Aag		coiled-coil glutamate-rich protein 1							216.0	182.0	194.0					12																	91347568		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347568C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.952G>A	12.37:g.91347568C>T	ENSP00000351727:p.Glu318Lys					CCER1_ENST00000548187.1_Intron	p.E318K	NM_152638.2	NP_689851.1					1	1385	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.952G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243160	0.22796	.	.	ENSG00000197651	ENST00000358859	T	0.25579	1.79	4.97	4.97	0.65823	.	1.001960	0.08054	N	0.997035	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	D	0.63703	0.917	T	0.46884	-0.9159	10	0.51188	T	0.08	-0.7217	13.6484	0.62297	0.0:1.0:0.0:0.0	.	318	Q8TC90	CL012_HUMAN	K	318	ENSP00000351727:E318K	ENSP00000351727:E318K	E	-	1	0	C12orf12	89871699	0.000000	0.05858	0.078000	0.20375	0.055000	0.15305	0.585000	0.23879	2.586000	0.87340	0.399000	0.26434	GAG		0.547	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		7	97	0	0	0	1	0	7	97				
SYNE1	23345	broad.mit.edu	37	6	152737987	152737987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:152737987C>T	ENST00000367255.5	-	41	6186	c.5585G>A	c.(5584-5586)aGg>aAg	p.R1862K	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1862K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1899K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1869K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1869K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1862					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTGCCGCCTCTCCACAAC	0.597										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5584-5586)aGg>aAg		spectrin repeat containing, nuclear envelope 1							70.0	71.0	70.0					6																	152737987		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737987C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5585G>A	6.37:g.152737987C>T	ENSP00000356224:p.Arg1862Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R1869K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1862K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1899K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1869K	p.R1862K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6186	-		Ovarian(120;0.0955)	1862					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5585G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340930	0.41498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	6.16	6.16	0.99307	.	0.088529	0.49305	D	0.000143	T	0.15739	0.0379	L	0.47716	1.5	0.80722	D	1	P;B;B;P	0.35844	0.524;0.323;0.323;0.459	B;B;B;B	0.33254	0.095;0.079;0.079;0.16	T	0.02026	-1.1227	10	0.08381	T	0.77	.	14.3908	0.66978	0.0:0.925:0.0:0.075	.	1845;1862;1862;1869	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	1862;1869;1862;1869;1899	ENSP00000356224:R1862K;ENSP00000396024:R1869K;ENSP00000265368:R1862K;ENSP00000390975:R1869K;ENSP00000341887:R1899K	ENSP00000265368:R1862K	R	-	2	0	SYNE1	152779680	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.079000	0.41577	2.937000	0.99478	0.650000	0.86243	AGG		0.597	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	154	0	0	0	1	0	7	154				
PLAG1	5324	broad.mit.edu	37	8	57080774	57080774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57080774G>A	ENST00000316981.3	-	4	534	c.55C>T	c.(55-57)Cct>Tct	p.P19S	PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	19	Interacts with KPNA2.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCCCTGAAGGGACTTTCTGG	0.458			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(55-57)Cct>Tct		pleiomorphic adenoma gene 1							107.0	98.0	101.0					8																	57080774		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57080774G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.55C>T	8.37:g.57080774G>A	ENSP00000325546:p.Pro19Ser					PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S|PLAG1_ENST00000423799.2_Intron	p.P19S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		4	534	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	19			Interacts with KPNA2.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.55C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631153	0.67015	.	.	ENSG00000181690	ENST00000316981;ENST00000429357	T;T	0.12255	2.7;2.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.57911	0.829	T	0.28902	-1.0029	10	0.12766	T	0.61	-9.0091	19.6662	0.95894	0.0:0.0:1.0:0.0	.	19	Q6DJT9	PLAG1_HUMAN	S	19	ENSP00000325546:P19S;ENSP00000416537:P19S	ENSP00000325546:P19S	P	-	1	0	PLAG1	57243328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.169000	0.77578	2.695000	0.91970	0.563000	0.77884	CCT		0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		6	85	0	0	0	1	0	6	85				
YAE1D1	57002	broad.mit.edu	37	7	39610151	39610151	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:39610151A>C	ENST00000223273.2	+	2	219	c.176A>C	c.(175-177)cAa>cCa	p.Q59P	YAE1D1_ENST00000448268.1_Missense_Mutation_p.Q59P|YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000432096.2_Missense_Mutation_p.Q59P	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	59																	GTTACTCTTCAACAGGGCTTC	0.368																																						ENST00000432096.2																			0											c.(175-177)cAa>cCa		Yae1 domain containing 1							135.0	138.0	137.0					7																	39610151		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39610151A>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.176A>C	7.37:g.39610151A>C	ENSP00000223273:p.Gln59Pro					YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000223273.2_Missense_Mutation_p.Q59P|YAE1D1_ENST00000448268.1_Missense_Mutation_p.Q59P	p.Q59P			Q9NRH1	CG036_HUMAN			2	189	+			59					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.176A>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312618	0.81358	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.60424	0.19;0.19;0.19	6.02	6.02	0.97574	Essential protein Yae1, N-terminal (1);	0.051561	0.85682	D	0.000000	T	0.80065	0.4555	M	0.90019	3.08	0.52501	D	0.999959	D	0.76494	0.999	D	0.69824	0.966	D	0.84299	0.0504	10	0.87932	D	0	.	15.1131	0.72375	1.0:0.0:0.0:0.0	.	59	Q9NRH1	CG036_HUMAN	P	59	ENSP00000223273:Q59P;ENSP00000400511:Q59P;ENSP00000395777:Q59P	ENSP00000223273:Q59P	Q	+	2	0	C7orf36	39576676	0.999000	0.42202	0.942000	0.38095	0.987000	0.75469	4.765000	0.62271	2.304000	0.77564	0.528000	0.53228	CAA		0.368	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		6	145	0	0	0	1	0	6	145				
LRRN3	54674	broad.mit.edu	37	7	110763756	110763756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:110763756G>A	ENST00000422987.3	+	2	1759	c.928G>A	c.(928-930)Gat>Aat	p.D310N	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.D310N|LRRN3_ENST00000308478.5_Missense_Mutation_p.D310N|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	310					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAACCTGCCAGATTTAAGAAA	0.398																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(928-930)Gat>Aat		leucine rich repeat neuronal 3							75.0	79.0	78.0					7																	110763756		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763756G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.928G>A	7.37:g.110763756G>A	ENSP00000412417:p.Asp310Asn					IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D310N|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D310N	p.D310N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1974	+			310					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.928G>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193105	0.78902	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.52057	0.68;0.68;0.68	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	T	0.34164	0.0888	N	0.00602	-1.34	0.58432	D	0.999997	P	0.50819	0.939	P	0.56278	0.795	T	0.56165	-0.8024	10	0.20046	T	0.44	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	310	Q9H3W5	LRRN3_HUMAN	N	310	ENSP00000312001:D310N;ENSP00000397312:D310N;ENSP00000412417:D310N	ENSP00000312001:D310N	D	+	1	0	LRRN3	110550992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	GAT		0.398	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	133	0	0	0	1	0	6	133				
CXorf22	170063	broad.mit.edu	37	X	35974158	35974158	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:35974158C>T	ENST00000297866.5	+	8	1321	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	419										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGACCAGTTCTTAATTTTAA	0.368																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1255-1257)Ctt>Ttt		chromosome X open reading frame 22							87.0	83.0	84.0					X																	35974158		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974158C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1255C>T	X.37:g.35974158C>T	ENSP00000297866:p.Leu419Phe						p.L419F	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			8	1321	+			419					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1255C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	2.127	-0.400097	0.04865	.	.	ENSG00000165164	ENST00000297866	T	0.57107	0.42	5.14	3.1	0.35709	.	0.335062	0.31897	N	0.006886	T	0.36303	0.0962	L	0.35723	1.085	0.09310	N	0.999996	B	0.18310	0.027	B	0.18561	0.022	T	0.20840	-1.0263	10	0.33940	T	0.23	-26.7283	4.135	0.10166	0.1571:0.5316:0.0:0.3114	.	419	Q6ZTR5	CX022_HUMAN	F	419	ENSP00000297866:L419F	ENSP00000297866:L419F	L	+	1	0	CXorf22	35884079	0.004000	0.15560	0.041000	0.18516	0.108000	0.19459	-0.166000	0.09954	0.321000	0.23259	0.600000	0.82982	CTT		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		6	72	0	0	0	1	0	6	72				
OR51I2	390064	broad.mit.edu	37	11	5474918	5474918	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5474918C>A	ENST00000341449.2	+	1	281	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	67					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATGTTGTCCTTCAGTGAT	0.532																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(199-201)tCc>tAc		olfactory receptor, family 51, subfamily I, member 2							111.0	101.0	105.0					11																	5474918		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474918C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.200C>A	11.37:g.5474918C>A	ENSP00000341987:p.Ser67Tyr					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.S67Y	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	281	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	67					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.200C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915859	0.73098	.	.	ENSG00000187918	ENST00000341449	T	0.12361	2.69	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.093159	0.48286	D	0.000191	T	0.57125	0.2032	H	0.98333	4.205	0.37111	D	0.900359	D	0.71674	0.998	D	0.78314	0.991	T	0.77003	-0.2749	10	0.87932	D	0	.	18.291	0.90130	0.0:1.0:0.0:0.0	.	67	Q9H344	O51I2_HUMAN	Y	67	ENSP00000341987:S67Y	ENSP00000341987:S67Y	S	+	2	0	OR51I2	5431494	0.875000	0.30112	0.994000	0.49952	0.903000	0.53119	3.025000	0.49681	2.902000	0.99343	0.650000	0.86243	TCC		0.532	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		7	99	1	0	0.00198382	1	0.00200044	7	99				
ZCCHC12	170261	broad.mit.edu	37	X	117960077	117960077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:117960077G>A	ENST00000310164.2	+	4	1377	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	290					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTCCATCCTGGGGTGCCCCTC	0.562																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(868-870)tgG>tgA		zinc finger, CCHC domain containing 12							86.0	77.0	80.0					X																	117960077		2203	4300	6503	SO:0001587	stop_gained	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960077G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.870G>A	X.37:g.117960077G>A	ENSP00000308921:p.Trp290*						p.W290*	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1377	+			290					B3KV48|Q6PID5|Q8N1C1	Nonsense_Mutation	SNP	ENST00000310164.2	37	c.870G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704275	0.96812	.	.	ENSG00000174460	ENST00000310164	.	.	.	2.62	-3.46	0.04767	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	2.8393	3.2245	0.06728	0.2687:0.0:0.2143:0.517	.	.	.	.	X	290	.	ENSP00000308921:W290X	W	+	3	0	ZCCHC12	117844105	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	-2.491000	0.00974	-1.195000	0.02680	0.436000	0.28706	TGG		0.562	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		8	66	0	0	0	1	0	8	66				
SYK	6850	broad.mit.edu	37	9	93650034	93650034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:93650034C>T	ENST00000375754.4	+	12	1733	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	SYK_ENST00000375751.4_Nonsense_Mutation_p.Q506*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q506*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Q529*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	529	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTTTTAGGCCCAGACCCATGG	0.488			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1585-1587)Cag>Tag		spleen tyrosine kinase							121.0	128.0	126.0					9																	93650034		2203	4300	6503	SO:0001587	stop_gained	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650034C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1585C>T	9.37:g.93650034C>T	ENSP00000364907:p.Gln529*					SYK_ENST00000375751.4_Nonsense_Mutation_p.Q506*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Q529*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q506*	p.Q529*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			12	1733	+			529			Protein kinase.			Nonsense_Mutation	SNP	ENST00000375754.4	37	c.1585C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.778416	0.96929	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.43	4.43	0.53597	.	0.060351	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	9.485	0.38924	0.1593:0.6864:0.1543:0.0	.	.	.	.	X	529;506;506;529	.	ENSP00000364898:Q529X	Q	+	1	0	SYK	92689855	0.990000	0.36364	1.000000	0.80357	0.581000	0.36288	2.870000	0.48451	2.430000	0.82344	0.561000	0.74099	CAG		0.488	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			21	204	0	0	0	1	0	21	204				
ACOX3	8310	broad.mit.edu	37	4	8383249	8383249	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:8383249G>A	ENST00000356406.5	-	14	1700	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	ACOX3_ENST00000413009.2_Silent_p.S541S|ACOX3_ENST00000503233.1_Silent_p.S541S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	541					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAAGTCACTGCTTCCTGATC	0.428																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(1621-1623)agC>agT		acyl-CoA oxidase 3, pristanoyl							135.0	146.0	143.0					4																	8383249		2203	4300	6503	SO:0001819	synonymous_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8383249G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1623C>T	4.37:g.8383249G>A						ACOX3_ENST00000503233.1_Silent_p.S541S|ACOX3_ENST00000413009.2_Silent_p.S541S	p.S541S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			14	1700	-			541					Q96AJ8	Silent	SNP	ENST00000356406.5	37	c.1623C>T	CCDS3401.1																																																																																				0.428	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			8	158	0	0	0	1	0	8	158				
TMEM119	338773	broad.mit.edu	37	12	108985566	108985566	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:108985566C>T	ENST00000392806.3	-	2	762	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	198					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTCCACCATCCTGGCTCCGT	0.687																																						ENST00000392806.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(592-594)agG>agA		transmembrane protein 119							45.0	35.0	39.0					12																	108985566		2203	4300	6503	SO:0001819	synonymous_variant	338773					integral to membrane		g.chr12:108985566C>T	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.594G>A	12.37:g.108985566C>T							p.R198R	NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN			2	762	-			198					Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	c.594G>A	CCDS9119.1																																																																																				0.687	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		4	67	0	0	0	1	0	4	67				
NKAIN3	286183	broad.mit.edu	37	8	63492130	63492130	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:63492130C>T	ENST00000523211.1	+	2	219	c.87C>T	c.(85-87)ttC>ttT	p.F29F	NKAIN3_ENST00000328472.5_Silent_p.F29F|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCTTTGACTTCCTTGGTTTCC	0.363																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(85-87)ttC>ttT		Na+/K+ transporting ATPase interacting 3							176.0	169.0	171.0					8																	63492130		1846	4096	5942	SO:0001819	synonymous_variant	286183					integral to membrane|plasma membrane		g.chr8:63492130C>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.87C>T	8.37:g.63492130C>T						NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.F29F	p.F29F	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			2	219	+	Breast(64;0.127)	Lung NSC(129;0.187)	29						Silent	SNP	ENST00000523211.1	37	c.87C>T	CCDS55239.1																																																																																				0.363	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		6	140	0	0	0	1	0	6	140				
DNAH8	1769	broad.mit.edu	37	6	38899708	38899708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:38899708C>T	ENST00000359357.3	+	74	10999	c.10745C>T	c.(10744-10746)aCt>aTt	p.T3582I	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3546I|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3799I|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3582	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGATTTCACTGTTACAATG	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10744-10746)aCt>aTt		dynein, axonemal, heavy chain 8							118.0	115.0	116.0					6																	38899708		2203	4298	6501	SO:0001583	missense	1769							g.chr6:38899708C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10745C>T	6.37:g.38899708C>T	ENSP00000352312:p.Thr3582Ile					RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3799I|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3546I|RP1-207H1.3_ENST00000416948.1_RNA	p.T3582I							74	10999	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10745C>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.922522	0.92319	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23754	1.89;1.89;1.89	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64976	-0.6280	10	0.66056	D	0.02	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	3546;3582	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	I	3787;3787;3582;3546	ENSP00000333363:T3787I;ENSP00000352312:T3582I;ENSP00000402294:T3546I	ENSP00000333363:T3787I	T	+	2	0	DNAH8	39007686	1.000000	0.71417	0.894000	0.35097	0.958000	0.62258	7.445000	0.80570	2.880000	0.98712	0.650000	0.86243	ACT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	126	0	0	0	1	0	8	126				
MRC2	9902	broad.mit.edu	37	17	60757609	60757609	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:60757609C>T	ENST00000303375.5	+	15	2779	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	793	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTGGCCTCCCTGCAGTGGGT	0.652																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2377-2379)Ctg>Ttg		mannose receptor, C type 2							58.0	55.0	56.0					17																	60757609		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757609C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2377C>T	17.37:g.60757609C>T							p.L793L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			15	2779	+			793			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2377C>T	CCDS11634.1																																																																																				0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	64	0	0	0	1	0	4	64				
USP9X	8239	broad.mit.edu	37	X	41027468	41027468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:41027468C>T	ENST00000324545.8	+	18	3266	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L	USP9X_ENST00000378308.2_Missense_Mutation_p.S878L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	878					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTCCCTATGTCGAGGTTTGTG	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2632-2634)tCg>tTg		ubiquitin specific peptidase 9, X-linked							85.0	75.0	78.0					X																	41027468		1912	4150	6062	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41027468C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2633C>T	X.37:g.41027468C>T	ENSP00000316357:p.Ser878Leu					USP9X_ENST00000378308.2_Missense_Mutation_p.S878L	p.S878L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			18	3266	+			878					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2633C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652296	0.29336	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03004	4.08;4.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.46157	1.445	0.80722	D	1	D;P	0.52996	0.957;0.929	B;B	0.37091	0.241;0.122	T	0.56335	-0.7996	10	0.11485	T	0.65	.	18.0004	0.89196	0.0:1.0:0.0:0.0	.	878;878	Q93008-1;Q93008	.;USP9X_HUMAN	L	878	ENSP00000367558:S878L;ENSP00000316357:S878L	ENSP00000316357:S878L	S	+	2	0	USP9X	40912412	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.731000	0.84895	2.186000	0.69663	0.506000	0.49869	TCG		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		4	33	0	0	0	1	0	4	33				
EMR3	84658	broad.mit.edu	37	19	14741007	14741007	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:14741007G>A	ENST00000253673.5	-	14	1756	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	EMR3_ENST00000443157.2_Silent_p.F426F|EMR3_ENST00000599900.1_Silent_p.F337F|EMR3_ENST00000344373.4_Silent_p.F500F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	552					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGTTGCTTTGAAAGCCAGCA	0.493																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1654-1656)ttC>ttT		egf-like module containing, mucin-like, hormone receptor-like 3							80.0	72.0	75.0					19																	14741007		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14741007G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1656C>T	19.37:g.14741007G>A						EMR3_ENST00000344373.4_Silent_p.F500F|EMR3_ENST00000599900.1_Silent_p.F337F|EMR3_ENST00000443157.2_Silent_p.F426F	p.F552F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			14	1756	-			552						Silent	SNP	ENST00000253673.5	37	c.1656C>T	CCDS12315.1																																																																																				0.493	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		5	76	0	0	0	1	0	5	76				
SNHG23	100507242	broad.mit.edu	37	14	101418202	101418202	+	lincRNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:101418202G>A	ENST00000556637.1	+	0	0				SNORD114-1_ENST00000362705.1_RNA|SNORD114-3_ENST00000364969.1_RNA|SNORD114-2_ENST00000363953.1_RNA|SNORD114-4_ENST00000363962.1_RNA																							TGGGACCAATGATAATGACTG	0.328																																						ENST00000363953.1																			0																				82.0	85.0	84.0					14																	101418202		876	1991	2867			767578							g.chr14:101418202G>A																													14.37:g.101418202G>A								NR_003194.1						0	10	+									RNA	SNP	ENST00000556637.1	37																																																																																						0.328	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			4	73	0	0	0	1	0	4	73				
OBSCN	84033	broad.mit.edu	37	1	228401943	228401943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:228401943G>A	ENST00000422127.1	+	4	1371	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E443K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E443K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	443	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGCGTGGAGCTGGCGGT	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1327-1329)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							44.0	53.0	50.0					1																	228401943		1945	4128	6073	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228401943G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1327G>A	1.37:g.228401943G>A	ENSP00000409493:p.Glu443Lys					OBSCN_ENST00000284548.11_Missense_Mutation_p.E443K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E443K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.E443K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			4	1401	+		Prostate(94;0.0405)	443			Ig-like 5.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.1327G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168217	0.78339	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.76968	-1.06;-1.06	5.08	5.08	0.68730	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.89343	0.6688	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.965;0.984	D	0.87841	0.2651	10	0.16896	T	0.51	.	18.4623	0.90743	0.0:0.0:1.0:0.0	.	443;443	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	443	ENSP00000284548:E443K;ENSP00000409493:E443K	ENSP00000284548:E443K	E	+	1	0	OBSCN	226468566	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.625000	0.83145	2.343000	0.79666	0.655000	0.94253	GAG		0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	111	0	0	0	1	0	6	111				
SPTBN1	6711	broad.mit.edu	37	2	54859746	54859746	+	Missense_Mutation	SNP	G	G	A	rs201202003		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:54859746G>A	ENST00000356805.4	+	17	3889	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	SPTBN1_ENST00000333896.5_Missense_Mutation_p.G1190E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1203					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3568-3570)gGa>gAa		spectrin, beta, non-erythrocytic 1							106.0	104.0	105.0					2																	54859746		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859746G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3608G>A	2.37:g.54859746G>A	ENSP00000349259:p.Gly1203Glu					SPTBN1_ENST00000356805.4_Missense_Mutation_p.G1203E	p.G1190E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		16	3954	+			1203					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3569G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091323	0.76756	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.44083	0.93;0.93	5.57	3.6	0.41247	.	0.169697	0.51477	D	0.000081	T	0.41096	0.1144	L	0.39245	1.2	0.42859	D	0.994106	B;B	0.27229	0.029;0.172	B;B	0.36186	0.097;0.219	T	0.49762	-0.8905	10	0.66056	D	0.02	.	15.7306	0.77800	0.0:0.3213:0.6787:0.0	.	1190;1203	Q01082-3;Q01082	.;SPTB2_HUMAN	E	1203;1190	ENSP00000349259:G1203E;ENSP00000334156:G1190E	ENSP00000334156:G1190E	G	+	2	0	SPTBN1	54713250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.650000	0.54424	2.630000	0.89119	0.655000	0.94253	GGA		0.458	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			7	104	0	0	0	1	0	7	104				
ZNF701	55762	broad.mit.edu	37	19	53086360	53086360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53086360G>A	ENST00000540331.1	+	5	1471	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416R|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350R|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATTCACACTGGAGAGAAACC	0.393																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1246-1248)Gga>Aga		zinc finger protein 701							97.0	97.0	97.0					19																	53086360		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086360G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1246G>A	19.37:g.53086360G>A	ENSP00000444339:p.Gly416Arg					ZNF701_ENST00000301093.2_Missense_Mutation_p.G416R|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350R	p.G416R	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1471	+			350					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1246G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552150	0.27739	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01629	4.72;4.72;4.72	1.87	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.25957	0.775	0.24947	N	0.991819	D;D	0.76494	0.999;0.993	D;D	0.81914	0.995;0.933	T	0.44922	-0.9296	9	0.72032	D	0.01	.	10.7856	0.46403	0.0:0.0:1.0:0.0	.	416;350	F5GZM6;Q9NV72	.;ZN701_HUMAN	R	350;416;416	ENSP00000375662:G350R;ENSP00000301093:G416R;ENSP00000444339:G416R	ENSP00000301093:G416R	G	+	1	0	ZNF701	57778172	1.000000	0.71417	0.415000	0.26534	0.067000	0.16453	3.996000	0.57009	1.034000	0.39945	0.400000	0.26472	GGA		0.393	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		11	152	0	0	0	1	0	11	152				
B4GALT4	8702	broad.mit.edu	37	3	118942966	118942966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:118942966G>A	ENST00000483209.1	-	5	1254	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	B4GALT4_ENST00000359213.3_Missense_Mutation_p.L205F|B4GALT4_ENST00000467604.1_Missense_Mutation_p.L205F|B4GALT4_ENST00000393765.2_Missense_Mutation_p.L205F|B4GALT4_ENST00000471675.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	205					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CACTTGTAAAGGTTAAAGTCA	0.493																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(613-615)Ctt>Ttt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						126.0	117.0	120.0					3																	118942966		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118942966G>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.613C>T	3.37:g.118942966G>A	ENSP00000420161:p.Leu205Phe					B4GALT4_ENST00000393765.2_Missense_Mutation_p.L205F|B4GALT4_ENST00000483209.1_Missense_Mutation_p.L205F|B4GALT4_ENST00000359213.3_Missense_Mutation_p.L205F|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR	p.L205F			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	1004	-			205					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.613C>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739851	0.69304	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.95	4.15	0.48705	.	0.192228	0.45606	D	0.000348	T	0.56031	0.1958	M	0.75884	2.315	0.43330	D	0.995365	D	0.58268	0.982	P	0.60473	0.875	T	0.58645	-0.7600	10	0.51188	T	0.08	-2.3954	14.2099	0.65756	0.0:0.0:0.5928:0.4072	.	205	O60513	B4GT4_HUMAN	F	205	ENSP00000420161:L205F;ENSP00000417226:L205F;ENSP00000352144:L205F;ENSP00000377360:L205F	ENSP00000352144:L205F	L	-	1	0	B4GALT4	120425656	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	1.138000	0.31491	0.831000	0.34780	-0.188000	0.12872	CTT		0.493	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		6	82	0	0	0	1	0	6	82				
GABRQ	55879	broad.mit.edu	37	X	151821029	151821029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:151821029G>A	ENST00000370306.2	+	9	1204	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	395					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGGAAGACGGAGTCAGCTCT	0.597																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1183-1185)gGa>gAa		gamma-aminobutyric acid (GABA) A receptor, theta							79.0	72.0	74.0					X																	151821029		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821029G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1184G>A	X.37:g.151821029G>A	ENSP00000359329:p.Gly395Glu						p.G395E	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1204	+	Acute lymphoblastic leukemia(192;6.56e-05)		395					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1184G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	4.604	0.112308	0.08831	.	.	ENSG00000147402	ENST00000370306	D	0.84944	-1.92	4.59	1.48	0.22813	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.63283	0.2498	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.51196	-0.8736	9	0.02654	T	1	.	5.2699	0.15618	0.5131:0.0:0.4869:0.0	.	395	Q9UN88	GBRT_HUMAN	E	395	ENSP00000359329:G395E	ENSP00000359329:G395E	G	+	2	0	GABRQ	151571685	0.363000	0.24989	0.001000	0.08648	0.618000	0.37518	1.506000	0.35747	0.149000	0.19098	0.600000	0.82982	GGA		0.597	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		6	70	0	0	0	1	0	6	70				
HRNR	388697	broad.mit.edu	37	1	152192107	152192107	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:152192107C>T	ENST00000368801.2	-	3	2073	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	666					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAATCGGACCCATGTCGGC	0.597																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1996-1998)ggG>ggA		hornerin							135.0	147.0	143.0					1																	152192107		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192107C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1998G>A	1.37:g.152192107C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G666G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2073	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		666					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1998G>A	CCDS30859.1																																																																																				0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		15	274	0	0	0	1	0	15	274				
USP29	57663	broad.mit.edu	37	19	57641738	57641738	+	Silent	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:57641738C>A	ENST00000254181.4	+	4	2149	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	USP29_ENST00000598197.1_Silent_p.V565V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	565	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTGGAAGTCTCTCAGGAGA	0.448																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1693-1695)gtC>gtA		ubiquitin specific peptidase 29							102.0	108.0	106.0					19																	57641738		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641738C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1695C>A	19.37:g.57641738C>A						USP29_ENST00000598197.1_Silent_p.V565V	p.V565V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2149	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	565						Silent	SNP	ENST00000254181.4	37	c.1695C>A	CCDS33124.1																																																																																				0.448	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			9	195	1	0	0.00448238	1	0.00451364	9	195				
SPTA1	6708	broad.mit.edu	37	1	158651380	158651380	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:158651380C>T	ENST00000368147.4	-	4	648	c.468G>A	c.(466-468)cgG>cgA	p.R156R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	156					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTCAGGGCCCGCAGCAACT	0.532																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(466-468)cgG>cgA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							176.0	181.0	180.0					1																	158651380		2029	4186	6215	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651380C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.468G>A	1.37:g.158651380C>T						SPTA1_ENST00000368147.3_Silent_p.R156R	p.R156R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			4	648	-	all_hematologic(112;0.0378)		156					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.468G>A	CCDS41423.1																																																																																				0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		20	286	0	0	0	1	0	20	286				
TTN	7273	broad.mit.edu	37	2	179528420	179528420	+	Intron	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179528420C>T	ENST00000591111.1	-	154	34489				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E12156K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_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)			GGAACTACTTCTTTGGGAGGC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36466-36468)Gaa>Aaa		titin							288.0	290.0	289.0					2																	179528420		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528420C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-4899G>A	2.37:g.179528420C>T						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	p.E12156K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		171	36690	-			10305			Ig-like 81.		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.36466G>A		.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095567	0.07010	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.73	2.89	0.33648	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.18873	N	0.999986	B	0.14012	0.009	B	0.15052	0.012	T	0.31724	-0.9933	7	0.06891	T	0.86	.	5.469	0.16660	0.0:0.6562:0.0:0.3438	.	430	Q71S18	.	K	430;282	.	ENSP00000376219:E282K	E	-	1	0	TTN	179236665	0.000000	0.05858	0.158000	0.22627	0.006000	0.05464	-1.531000	0.02219	1.127000	0.42034	0.456000	0.33151	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	307	0	0	0	1	0	11	307				
MARK1	4139	broad.mit.edu	37	1	220823975	220823975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:220823975C>T	ENST00000366917.4	+	14	1750	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	MARK1_ENST00000402574.1_Missense_Mutation_p.S360F|MARK1_ENST00000366918.4_Missense_Mutation_p.S473F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGTGTATTCTGGAGGTAGC	0.343																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(1078-1080)tCt>tTt		MAP/microtubule affinity-regulating kinase 1							146.0	138.0	140.0					1																	220823975		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220823975C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1484C>T	1.37:g.220823975C>T	ENSP00000355884:p.Ser495Phe					MARK1_ENST00000366917.4_Missense_Mutation_p.S495F|MARK1_ENST00000366918.4_Missense_Mutation_p.S473F	p.S360F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	14	2081	+			495			UBA.			Missense_Mutation	SNP	ENST00000366917.4	37	c.1079C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668121	0.67814	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.74209	-0.7;-0.49;-0.82	5.31	5.31	0.75309	.	0.520328	0.20792	N	0.085599	T	0.69646	0.3134	L	0.34521	1.04	0.46396	D	0.999025	B;P;B;B	0.35982	0.082;0.531;0.012;0.313	B;B;B;B	0.37480	0.104;0.21;0.036;0.251	T	0.72792	-0.4186	10	0.72032	D	0.01	.	19.3383	0.94329	0.0:1.0:0.0:0.0	.	495;360;495;473	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	F	360;473;495	ENSP00000386017:S360F;ENSP00000355885:S473F;ENSP00000355884:S495F	ENSP00000355884:S495F	S	+	2	0	MARK1	218890598	0.975000	0.34042	0.971000	0.41717	0.861000	0.49209	3.710000	0.54860	2.656000	0.90262	0.655000	0.94253	TCT		0.343	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			10	224	0	0	0	1	0	10	224				
POPDC3	64208	broad.mit.edu	37	6	105606463	105606463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:105606463C>T	ENST00000254765.3	-	4	1036	c.758G>A	c.(757-759)gGa>gAa	p.G253E	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	253					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATATCTTTTTCCTATATATAC	0.408																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(757-759)gGa>gAa		popeye domain containing 3							144.0	144.0	144.0					6																	105606463		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606463C>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.758G>A	6.37:g.105606463C>T	ENSP00000254765:p.Gly253Glu					BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	p.G253E	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			4	1036	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	253					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.758G>A	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118537	0.20877	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.27557	1.66;1.66	5.99	5.99	0.97316	.	0.328158	0.32624	N	0.005858	T	0.09862	0.0242	N	0.25647	0.755	0.37966	D	0.933116	B	0.34181	0.44	B	0.35114	0.196	T	0.02676	-1.1125	10	0.07030	T	0.85	-44.9259	13.6356	0.62221	0.0:0.9294:0.0:0.0706	.	253	Q9HBV1	POPD3_HUMAN	E	253;99	ENSP00000254765:G253E;ENSP00000414409:G99E	ENSP00000254765:G253E	G	-	2	0	POPDC3	105713156	0.897000	0.30589	0.995000	0.50966	0.588000	0.36517	2.381000	0.44336	2.843000	0.97960	0.591000	0.81541	GGA		0.408	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		11	217	0	0	0	1	0	11	217				
MAP10	54627	broad.mit.edu	37	1	232943748	232943748	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:232943748G>A	ENST00000418460.1	+	1	3106	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	851					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CATCCCAGGTGAGTTCTTACC	0.378																																						ENST00000418460.1																			0											c.(2977-2979)gtG>gtA		microtubule-associated protein 10							134.0	132.0	133.0					1																	232943748		1878	4104	5982	SO:0001819	synonymous_variant	54627							g.chr1:232943748G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2979G>A	1.37:g.232943748G>A							p.V993V	NM_019090.2	NP_061963.2					1	3106	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	c.2979G>A	CCDS44334.1																																																																																				0.378	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		10	188	0	0	0	1	0	10	188				
PCDHGA12	26025	broad.mit.edu	37	5	140812167	140812167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140812167C>T	ENST00000252085.3	+	1	1983	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	614	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGAGCCGGGACTCTTC	0.682																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1840-1842)cCg>cTg									30.0	38.0	35.0					5																	140812167		2194	4281	6475	SO:0001583	missense	26025							g.chr5:140812167C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1841C>T	5.37:g.140812167C>T	ENSP00000252085:p.Pro614Leu					PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P614L	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1983	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1841C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191722	0.58017	.	.	ENSG00000253159	ENST00000252085	T	0.51817	0.69	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67655	0.2916	M	0.73962	2.25	0.40524	D	0.980862	D;D	0.69078	0.992;0.997	P;D	0.62955	0.867;0.909	T	0.73655	-0.3914	9	0.87932	D	0	.	18.0895	0.89469	0.0:1.0:0.0:0.0	.	614;614	O60330-2;O60330	.;PCDGC_HUMAN	L	614	ENSP00000252085:P614L	ENSP00000252085:P614L	P	+	2	0	PCDHGA12	140792351	0.991000	0.36638	0.964000	0.40570	0.574000	0.36063	3.102000	0.50291	2.432000	0.82394	0.556000	0.70494	CCG		0.682	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		14	172	0	0	0	1	0	14	172				
BLVRA	644	broad.mit.edu	37	7	43827505	43827505	+	Silent	SNP	C	C	T	rs11545804		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:43827505C>T	ENST00000402924.1	+	4	178	c.15C>T	c.(13-15)ccC>ccT	p.P5P	BLVRA_ENST00000265523.4_Silent_p.P5P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	5					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGTTTCAGCCCGAGAGGAAGT	0.567													c|||	1	0.000199681	0.0	0.0	5008	,	,		19106	0.001		0.0	False		,,,				2504	0.0					ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(13-15)ccC>ccT		biliverdin reductase A	NADH(DB00157)						226.0	179.0	195.0					7																	43827505		2203	4300	6503	SO:0001819	synonymous_variant	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43827505C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.15C>T	7.37:g.43827505C>T						BLVRA_ENST00000265523.4_Silent_p.P5P	p.P5P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			4	178	+			5					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	c.15C>T	CCDS5472.1																																																																																				0.567	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		6	121	0	0	0	1	0	6	121				
CHRNA3	1136	broad.mit.edu	37	15	78894484	78894484	+	Missense_Mutation	SNP	G	G	A	rs72648887		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78894484G>A	ENST00000326828.5	-	5	884	c.500C>T	c.(499-501)cCg>cTg	p.P167L	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GTAATCAAACGGGAAGTAGGT	0.488																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(499-501)cCg>cTg		cholinergic receptor, nicotinic, alpha 3 (neuronal)							166.0	153.0	157.0					15																	78894484		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894484G>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.500C>T	15.37:g.78894484G>A	ENSP00000315602:p.Pro167Leu					CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167L	p.P167L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	884	-			167					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.500C>T	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863591	0.71949	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	D;D	0.98567	-5.0;-5.0	6.17	5.26	0.73747	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.048156	0.85682	N	0.000000	D	0.99510	0.9825	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97587	1.0114	10	0.87932	D	0	.	15.6271	0.76870	0.0653:0.0:0.9346:0.0	.	167;167	P32297;P32297-3	ACHA3_HUMAN;.	L	167;167;31	ENSP00000267951:P167L;ENSP00000315602:P167L	ENSP00000315602:P167L	P	-	2	0	CHRNA3	76681539	1.000000	0.71417	0.914000	0.36105	0.537000	0.34900	9.860000	0.99555	1.632000	0.50472	-0.140000	0.14226	CCG		0.488	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			6	136	0	0	0	1	0	6	136				
TTN	7273	broad.mit.edu	37	2	179595883	179595883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179595883C>T	ENST00000591111.1	-	58	16782	c.16558G>A	c.(16558-16560)Gga>Aga	p.G5520R	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G5837R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4593R			Q8WZ42	TITIN_HUMAN	titin	12350	Ig-like 36.				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)			GCTGGGTCTCCTTGGGTGACA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17509-17511)Gga>Aga		titin							170.0	160.0	163.0					2																	179595883		1849	4108	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595883C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16558G>A	2.37:g.179595883C>T	ENSP00000465570:p.Gly5520Arg					TTN_ENST00000591111.1_Missense_Mutation_p.G5520R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4593R|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	p.G5837R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	17733	-			5520			Ig-like 39.		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.17509G>A		.	.	.	.	.	.	.	.	.	.	C	10.70	1.422769	0.25639	.	.	ENSG00000155657	ENST00000342992	T	0.81330	-1.48	5.96	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83454	0.5258	M	0.83852	2.665	0.80722	D	1	B	0.23442	0.085	B	0.28916	0.096	T	0.82705	-0.0325	9	0.87932	D	0	.	15.4654	0.75397	0.0:0.9337:0.0:0.0663	.	5520	Q8WZ42	TITIN_HUMAN	R	4593	ENSP00000343764:G4593R	ENSP00000343764:G4593R	G	-	1	0	TTN	179304128	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	4.897000	0.63231	1.537000	0.49254	0.655000	0.94253	GGA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	242	0	0	0	1	0	15	242				
RPL39L	116832	broad.mit.edu	37	3	186838998	186838998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186838998G>A	ENST00000296277.4	-	3	493	c.91C>T	c.(91-93)Cct>Tct	p.P31S	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31S|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTACTACCAGGTTTCATCTGA	0.438																																						ENST00000296277.4																			0											c.(91-93)Cct>Tct		ribosomal protein L39-like							111.0	110.0	110.0					3																	186838998		2203	4300	6503	SO:0001583	missense	116832				spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome	g.chr3:186838998G>A	BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"""L ribosomal proteins"""	17094	protein-coding gene	gene with protein product		607547	"""ribosomal protein L39-like 1"""	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.91C>T	3.37:g.186838998G>A	ENSP00000296277:p.Pro31Ser					RPL39L_ENST00000433055.1_Missense_Mutation_p.P31S|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31S	p.P31S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)	3	493	-	all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		31					Q8IUD0	Missense_Mutation	SNP	ENST00000296277.4	37	c.91C>T	CCDS3286.1	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548501	0.13312	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	-0.72	0.11195	Ribosomal protein L39e domain (2);Ribosomal protein L39e, conserved site (1);	0.359519	0.18165	U	0.149654	T	0.25568	0.0622	.	.	.	0.23050	N	0.998374	B	0.21071	0.051	B	0.20577	0.03	T	0.14117	-1.0484	8	0.56958	D	0.05	-23.1447	3.7769	0.08663	0.2051:0.0:0.2227:0.5722	.	31	Q96EH5	RL39L_HUMAN	S	31	.	ENSP00000296277:P31S	P	-	1	0	RPL39L	188321692	1.000000	0.71417	0.821000	0.32701	0.348000	0.29142	2.146000	0.42216	-0.145000	0.11294	-0.362000	0.07510	CCT		0.438	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344283.2	NM_052969		16	210	0	0	0	1	0	16	210				
DOCK2	1794	broad.mit.edu	37	5	169502955	169502955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:169502955C>T	ENST00000256935.8	+	47	4813	c.4733C>T	c.(4732-4734)cCc>cTc	p.P1578L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.P1070L|DOCK2_ENST00000540750.1_Missense_Mutation_p.P639L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1578	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAGATCCCCTTCTTGGGA	0.537																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4732-4734)cCc>cTc		dedicator of cytokinesis 2							141.0	151.0	147.0					5																	169502955		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169502955C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4733C>T	5.37:g.169502955C>T	ENSP00000256935:p.Pro1578Leu					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.P1070L|DOCK2_ENST00000540750.1_Missense_Mutation_p.P639L	p.P1578L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4813	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1578			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4733C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145804	0.77888	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.16457	2.34;2.34;2.34	5.18	5.18	0.71444	Cytochrome c domain (1);	0.061055	0.64402	D	0.000002	T	0.50480	0.1618	M	0.91717	3.235	0.80722	D	1	D;B;D	0.89917	0.999;0.215;1.0	D;B;D	0.70227	0.921;0.094;0.968	T	0.55263	-0.8168	10	0.28530	T	0.3	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	1070;134;1578	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	L	1578;1070;639	ENSP00000256935:P1578L;ENSP00000429283:P1070L;ENSP00000438827:P639L	ENSP00000256935:P1578L	P	+	2	0	DOCK2	169435533	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.726000	0.84824	2.598000	0.87819	0.650000	0.86243	CCC		0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		17	234	0	0	0	1	0	17	234				
FLG	2312	broad.mit.edu	37	1	152285476	152285476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:152285476C>T	ENST00000368799.1	-	3	1921	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	629	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAGTGTCCCTGACTGTC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1885-1887)gGa>gAa		filaggrin							232.0	236.0	235.0					1																	152285476		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285476C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1886G>A	1.37:g.152285476C>T	ENSP00000357789:p.Gly629Glu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G629E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1921	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		629			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1886G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248044	0.22880	.	.	ENSG00000143631	ENST00000368799	T	0.16073	2.37	3.68	0.612	0.17591	.	.	.	.	.	T	0.17789	0.0427	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07158	-1.0787	9	0.24483	T	0.36	.	3.5305	0.07774	0.1957:0.5792:0.0:0.2251	.	629	P20930	FILA_HUMAN	E	629	ENSP00000357789:G629E	ENSP00000357789:G629E	G	-	2	0	FLG	150552100	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.591000	0.05753	0.029000	0.15352	-0.131000	0.14894	GGA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	391	0	0	0	1	0	17	391				
CHAT	1103	broad.mit.edu	37	10	50863221	50863221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:50863221C>T	ENST00000337653.2	+	12	1868	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L	CHAT_ENST00000395559.2_Missense_Mutation_p.S454L|CHAT_ENST00000351556.3_Missense_Mutation_p.S454L|CHAT_ENST00000395562.2_Missense_Mutation_p.S490L|CHAT_ENST00000455728.2_Missense_Mutation_p.S454L|CHAT_ENST00000339797.1_Missense_Mutation_p.S454L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	572					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AACATCAGATCGGCCACTCCA	0.617																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1468-1470)tCg>tTg		choline O-acetyltransferase	Choline(DB00122)						68.0	64.0	65.0					10																	50863221		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863221C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1715C>T	10.37:g.50863221C>T	ENSP00000337103:p.Ser572Leu					CHAT_ENST00000395559.2_Missense_Mutation_p.S454L|CHAT_ENST00000351556.3_Missense_Mutation_p.S454L|CHAT_ENST00000339797.1_Missense_Mutation_p.S454L|CHAT_ENST00000455728.2_Missense_Mutation_p.S454L|CHAT_ENST00000337653.2_Missense_Mutation_p.S572L	p.S490L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1938	+		all_neural(218;0.107)	572					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1469C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488479	0.96323	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.97919	1.0313	10	0.87932	D	0	-10.236	19.0718	0.93140	0.0:1.0:0.0:0.0	.	454;572	F8W8I2;P28329	.;CLAT_HUMAN	L	454;454;454;572;490;454	ENSP00000343486:S454L;ENSP00000345878:S454L;ENSP00000378926:S454L;ENSP00000337103:S572L;ENSP00000378929:S490L;ENSP00000390521:S454L	ENSP00000337103:S572L	S	+	2	0	CHAT	50533227	1.000000	0.71417	0.886000	0.34754	0.943000	0.58893	7.818000	0.86416	2.514000	0.84764	0.591000	0.81541	TCG		0.617	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	117	0	0	0	1	0	7	117				
ZNF365	22891	broad.mit.edu	37	10	64136664	64136664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:64136664G>A	ENST00000395254.3	+	2	992	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.E238K|ZNF365_ENST00000410046.3_Missense_Mutation_p.E238K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACGCCTGACGGAATCTGAGGA	0.507																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(712-714)Gaa>Aaa		zinc finger protein 365							68.0	76.0	73.0					10																	64136664		2202	4300	6502	SO:0001583	missense	22891							g.chr10:64136664G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.712G>A	10.37:g.64136664G>A	ENSP00000378674:p.Glu238Lys					ZNF365_ENST00000395255.3_Missense_Mutation_p.E238K|ZNF365_ENST00000410046.3_Missense_Mutation_p.E238K|ZNF365_ENST00000466727.1_Intron	p.E238K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	992	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.712G>A	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555040	0.45487	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35421	1.31;1.31;1.31	5.73	5.73	0.89815	.	0.364924	0.28307	N	0.015829	T	0.41789	0.1174	L	0.60455	1.87	0.80722	D	1	P;B;P;P	0.43938	0.822;0.449;0.51;0.51	B;B;B;B	0.41510	0.359;0.154;0.154;0.23	T	0.22730	-1.0208	10	0.39692	T	0.17	.	19.8989	0.96978	0.0:0.0:1.0:0.0	.	238;238;238;253	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	K	238	ENSP00000378674:E238K;ENSP00000378675:E238K;ENSP00000387091:E238K	ENSP00000378674:E238K	E	+	1	0	ZNF365	63806670	1.000000	0.71417	0.184000	0.23157	0.539000	0.34962	4.186000	0.58337	2.706000	0.92434	0.555000	0.69702	GAA		0.507	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		8	181	0	0	0	1	0	8	181				
PRMT1	3276	broad.mit.edu	37	19	50185211	50185211	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:50185211C>T	ENST00000391851.4	+	3	312	c.183C>T	c.(181-183)tcC>tcT	p.S61S	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Silent_p.S33S|PRMT1_ENST00000454376.2_Silent_p.S79S	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	69	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACCGCAACTCCATGTTTCATA	0.617																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(97-99)tcC>tcT		protein arginine methyltransferase 1							69.0	58.0	61.0					19																	50185211		2203	4300	6503	SO:0001819	synonymous_variant	3276					cytoplasm	protein methyltransferase activity	g.chr19:50185211C>T	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.183C>T	19.37:g.50185211C>T						PRMT1_ENST00000391851.4_Silent_p.S61S|PRMT1_ENST00000454376.2_Silent_p.S79S	p.S33S			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	605	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	60					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	c.99C>T	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568788	0.13560	.	.	ENSG00000126457	ENST00000524771	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.61813	0.2377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59144	-0.7509	4	.	.	.	-9.2762	10.8891	0.46986	0.1874:0.8126:0.0:0.0	.	.	.	.	L	89	.	.	P	+	2	0	PRMT1	54877023	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	2.232000	0.43018	2.629000	0.89072	0.643000	0.83706	CCA		0.617	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		4	42	0	0	0	1	0	4	42				
SERPIND1	3053	broad.mit.edu	37	22	21133696	21133696	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:21133696G>A	ENST00000215727.5	+	2	379	c.96G>A	c.(94-96)ggG>ggA	p.G32G	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.G32G	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	32					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)	AGAAAGGAGGGGAAACTGCTC	0.493																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(94-96)ggG>ggA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						50.0	50.0	50.0					22																	21133696		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133696G>A	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.96G>A	22.37:g.21133696G>A						SERPIND1_ENST00000406799.1_Silent_p.G32G|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	p.G32G	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	379	+	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)	32					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.96G>A	CCDS13783.1																																																																																				0.493	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		7	75	0	0	0	1	0	7	75				
TLR4	7099	broad.mit.edu	37	9	120475061	120475061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:120475061C>T	ENST00000355622.6	+	3	756	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q179*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	219					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q219K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAACTTTATCCAACCAGGTGC	0.363																																						ENST00000355622.6																			1	Substitution - Missense(1)	p.Q219K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(655-657)Caa>Taa		toll-like receptor 4							54.0	60.0	58.0					9																	120475061		2188	4294	6482	SO:0001587	stop_gained	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475061C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.655C>T	9.37:g.120475061C>T	ENSP00000363089:p.Gln219*					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q179*	p.Q219*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	756	+			219					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.655C>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159149	0.57368	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.59	1.27	0.21489	.	0.514632	0.19280	N	0.118183	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.4625	0.67459	0.0:0.3066:0.6254:0.0679	.	.	.	.	X	179;219	.	ENSP00000363089:Q219X	Q	+	1	0	TLR4	119514882	0.009000	0.17119	0.006000	0.13384	0.345000	0.29048	-0.008000	0.12788	0.261000	0.21753	0.655000	0.94253	CAA		0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		15	141	0	0	0	1	0	15	141				
CNTNAP5	129684	broad.mit.edu	37	2	125671691	125671691	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:125671691C>T	ENST00000431078.1	+	24	4111	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1249					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGTGATATTCATCATCTTCT	0.478																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3745-3747)ttC>ttT		contactin associated protein-like 5							158.0	151.0	153.0					2																	125671691		1985	4177	6162	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671691C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3747C>T	2.37:g.125671691C>T							p.F1249F	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4111	+			1249					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3747C>T	CCDS46401.1																																																																																				0.478	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	146	0	0	0	1	0	6	146				
ROS1	6098	broad.mit.edu	37	6	117686800	117686800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:117686800G>A	ENST00000368508.3	-	19	3115	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P968S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	973	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTACCGCAGGGGGACCATTC	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2917-2919)Cct>Tct		c-ros oncogene 1 , receptor tyrosine kinase							68.0	63.0	65.0					6																	117686800		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686800G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2917C>T	6.37:g.117686800G>A	ENSP00000357494:p.Pro973Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.P968S|GOPC_ENST00000467125.1_Intron	p.P973S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	19	3115	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	973			Fibronectin type-III 4.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2917C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739053	0.49045	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.51574	0.7;0.7	4.98	4.98	0.66077	.	0.114923	0.39083	N	0.001473	T	0.20700	0.0498	N	0.19112	0.55	0.31792	N	0.629596	P	0.47034	0.889	B	0.44224	0.444	T	0.11616	-1.0580	10	0.52906	T	0.07	.	9.0247	0.36222	0.0:0.1476:0.6788:0.1737	.	973	P08922	ROS1_HUMAN	S	973;968	ENSP00000357494:P973S;ENSP00000357493:P968S	ENSP00000357493:P968S	P	-	1	0	ROS1	117793493	0.447000	0.25673	0.800000	0.32199	0.964000	0.63967	1.043000	0.30316	2.453000	0.82957	0.650000	0.86243	CCT		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	94	0	0	0	1	0	5	94				
CPPED1	55313	broad.mit.edu	37	16	12798615	12798615	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:12798615T>G	ENST00000381774.4	-	3	821	c.581A>C	c.(580-582)cAg>cCg	p.Q194P	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GCAGTGCCGCTGCCTCGCGAT	0.597																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(580-582)cAg>cCg		calcineurin-like phosphoesterase domain containing 1							67.0	70.0	69.0					16																	12798615		2132	4254	6386	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798615T>G	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.581A>C	16.37:g.12798615T>G	ENSP00000371193:p.Gln194Pro					CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	p.Q194P	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	821	-			194					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.581A>C	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	T	2.968	-0.213107	0.06140	.	.	ENSG00000103381	ENST00000381774	T	0.68331	-0.32	5.32	4.21	0.49690	Metallophosphoesterase domain (1);	0.406771	0.29444	N	0.012140	T	0.67363	0.2885	L	0.53249	1.67	0.09310	N	0.999998	B	0.32071	0.355	B	0.43838	0.433	T	0.58457	-0.7633	10	0.31617	T	0.26	-11.7989	10.6001	0.45362	0.0:0.0:0.162:0.838	.	194	Q9BRF8	CPPED_HUMAN	P	194	ENSP00000371193:Q194P	ENSP00000371193:Q194P	Q	-	2	0	CPPED1	12706116	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.995000	0.29706	0.841000	0.35020	-0.321000	0.08615	CAG		0.597	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		7	101	0	0	0	1	0	7	101				
ABI3BP	25890	broad.mit.edu	37	3	100489717	100489717	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:100489717C>T	ENST00000284322.5	-	29	2587	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E	ABI3BP_ENST00000383691.4_Silent_p.E780E|ABI3BP_ENST00000471714.1_Silent_p.E1528E	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	826					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGGCCTCCTCTTTGGGGA	0.557																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4582-4584)gaG>gaA		ABI family, member 3 (NESH) binding protein							199.0	208.0	205.0					3																	100489717		2001	4187	6188	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100489717C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2478G>A	3.37:g.100489717C>T						ABI3BP_ENST00000284322.5_Silent_p.E826E|ABI3BP_ENST00000383691.4_Silent_p.E780E	p.E1528E			Q7Z7G0	TARSH_HUMAN			61	4693	-			826					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.4584G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	8.801	0.933008	0.18131	.	.	ENSG00000154175	ENST00000495591	.	.	.	5.98	5.11	0.69529	.	.	.	.	.	T	0.60170	0.2248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58934	-0.7548	4	.	.	.	-18.6823	9.0911	0.36612	0.0:0.7714:0.0:0.2286	.	.	.	.	K	882	.	.	R	-	2	0	ABI3BP	101972407	0.999000	0.42202	0.999000	0.59377	0.924000	0.55760	0.713000	0.25794	1.540000	0.49301	0.591000	0.81541	AGG		0.557	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			12	162	0	0	0	1	0	12	162				
LRP2	4036	broad.mit.edu	37	2	170103335	170103335	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:170103335C>T	ENST00000263816.3	-	21	3355	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	LRP2_ENST00000443831.1_Missense_Mutation_p.E887K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1024	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCACACTGCTCTGTGGGTGGT	0.488																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3070-3072)Gag>Aag		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						146.0	133.0	137.0					2																	170103335		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170103335C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3070G>A	2.37:g.170103335C>T	ENSP00000263816:p.Glu1024Lys					LRP2_ENST00000443831.1_Missense_Mutation_p.E887K	p.E1024K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3355	-			1024			LDL-receptor class A 8.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3070G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	3.308	-0.141526	0.06669	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91011	-2.77;-2.77	6.03	-2.11	0.07187	.	0.360897	0.27807	N	0.017762	T	0.72930	0.3522	N	0.03608	-0.345	0.09310	N	1	B;P	0.36483	0.416;0.555	B;B	0.42959	0.403;0.257	T	0.72786	-0.4188	10	0.06365	T	0.9	.	4.9582	0.14052	0.1656:0.1826:0.5037:0.1481	.	887;1024	E9PC35;P98164	.;LRP2_HUMAN	K	1024;887	ENSP00000263816:E1024K;ENSP00000409813:E887K	ENSP00000263816:E1024K	E	-	1	0	LRP2	169811581	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	-0.217000	0.09253	-0.114000	0.11936	0.655000	0.94253	GAG		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	138	0	0	0	1	0	8	138				
SAYSD1	55776	broad.mit.edu	37	6	39082853	39082853	+	Silent	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:39082853A>G	ENST00000229903.4	-	1	112	c.13T>C	c.(13-15)Tta>Cta	p.L5L	SAYSD1_ENST00000481599.1_5'Flank	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	5						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											AACTCAGCTAACCGCTGTTCC	0.731																																						ENST00000229903.4																			0											c.(13-15)Tta>Cta		SAYSVFN motif domain containing 1							12.0	14.0	13.0					6																	39082853		2170	4245	6415	SO:0001819	synonymous_variant	55776					integral to membrane		g.chr6:39082853A>G	BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.13T>C	6.37:g.39082853A>G							p.L5L	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN			1	112	-			5					Q9H0D8	Silent	SNP	ENST00000229903.4	37	c.13T>C	CCDS4840.1																																																																																				0.731	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040448.1	NM_018322		3	29	0	0	0	1	0	3	29				
MORC2	22880	broad.mit.edu	37	22	31331057	31331057	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:31331057G>A	ENST00000397641.3	-	19	2312	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Missense_Mutation_p.P573L			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	635						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGCTGGTCTAGGAGTTGGCAA	0.602																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1717-1719)cCt>cTt		MORC family CW-type zinc finger 2							21.0	25.0	24.0					22																	31331057		2198	4300	6498	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31331057G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1904C>T	22.37:g.31331057G>A	ENSP00000380763:p.Pro635Leu					MORC2_ENST00000397641.2_Missense_Mutation_p.P635L	p.P573L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			20	3081	-			635					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1718C>T		.	.	.	.	.	.	.	.	.	.	G	9.470	1.095447	0.20471	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12147	2.71;2.71	5.76	3.07	0.35406	.	0.433613	0.28772	N	0.014199	T	0.07638	0.0192	N	0.14661	0.345	0.25574	N	0.986863	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.54805	T	0.06	.	7.6066	0.28105	0.1302:0.0:0.7332:0.1366	.	635	Q9Y6X9	MORC2_HUMAN	L	635;573	ENSP00000380763:P635L;ENSP00000215862:P573L	ENSP00000215862:P573L	P	-	2	0	MORC2	29661057	1.000000	0.71417	0.192000	0.23308	0.164000	0.22412	2.779000	0.47734	1.311000	0.45024	0.655000	0.94253	CCT		0.602	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		6	59	0	0	0	1	0	6	59				
HERC2	8924	broad.mit.edu	37	15	28375381	28375381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:28375381G>A	ENST00000261609.7	-	83	12838	c.12730C>T	c.(12730-12732)Caa>Taa	p.Q4244*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAACCCTTGGACCTGCCGA	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12730-12732)Caa>Taa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							249.0	220.0	229.0					15																	28375381		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375381G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12730C>T	15.37:g.28375381G>A	ENSP00000261609:p.Gln4244*						p.Q4244*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	83	12838	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4244						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.12730C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	54	23.113914	0.99953	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.3543	0.90352	0.0:0.0:1.0:0.0	.	.	.	.	X	4244	.	ENSP00000261609:Q4244X	Q	-	1	0	HERC2	26048976	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.856000	0.99531	2.310000	0.77875	0.561000	0.74099	CAA		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	251	0	0	0	1	0	10	251				
PANX3	116337	broad.mit.edu	37	11	124481588	124481588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:124481588C>T	ENST00000284288.2	+	1	203	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	46					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGTGGGCTCCCCCTTGTTGCT	0.602																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(136-138)Ccc>Tcc		pannexin 3							101.0	103.0	102.0					11																	124481588		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481588C>T	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.136C>T	11.37:g.124481588C>T	ENSP00000284288:p.Pro46Ser						p.P46S	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	203	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	46						Missense_Mutation	SNP	ENST00000284288.2	37	c.136C>T	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821751	0.90873	.	.	ENSG00000154143	ENST00000284288	T	0.32753	1.44	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65676	-0.6110	10	0.72032	D	0.01	-23.222	18.0228	0.89260	0.0:1.0:0.0:0.0	.	46	Q96QZ0	PANX3_HUMAN	S	46	ENSP00000284288:P46S	ENSP00000284288:P46S	P	+	1	0	PANX3	123986798	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.450000	0.80656	2.476000	0.83614	0.655000	0.94253	CCC		0.602	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			5	69	0	0	0	1	0	5	69				
KLHL38	340359	broad.mit.edu	37	8	124665031	124665031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:124665031G>A	ENST00000325995.7	-	1	159	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGGTGGCAGGGGATCTCCCGG	0.572																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(136-138)Ccc>Tcc		kelch-like family member 38							55.0	59.0	58.0					8																	124665031		2060	4221	6281	SO:0001583	missense	340359							g.chr8:124665031G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.136C>T	8.37:g.124665031G>A	ENSP00000321475:p.Pro46Ser					CTD-2552K11.2_ENST00000524355.1_RNA	p.P46S	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	159	-			46			BTB.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.136C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897422	0.72639	.	.	ENSG00000175946	ENST00000325995	T	0.67523	-0.27	5.52	5.52	0.82312	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.048959	0.85682	D	0.000000	T	0.71048	0.3294	M	0.73372	2.23	0.80722	D	1	B	0.26445	0.149	B	0.32583	0.148	T	0.68945	-0.5275	10	0.46703	T	0.11	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	46	Q2WGJ6	KLH38_HUMAN	S	46	ENSP00000321475:P46S	ENSP00000321475:P46S	P	-	1	0	KLHL38	124734212	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	9.766000	0.98957	2.596000	0.87737	0.561000	0.74099	CCC		0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			10	70	0	0	0	1	0	10	70				
ZNF763	284390	broad.mit.edu	37	19	12089398	12089398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:12089398G>A	ENST00000358987.3	+	4	786	c.659G>A	c.(658-660)aGa>aAa	p.R220K	ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K|ZNF763_ENST00000343949.5_Missense_Mutation_p.R223K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATCCATGAAAGAACTCACACT	0.383																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(667-669)aGa>aAa		zinc finger protein 763							82.0	84.0	83.0					19																	12089398		2203	4300	6503	SO:0001583	missense	284390							g.chr19:12089398G>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.659G>A	19.37:g.12089398G>A	ENSP00000402017:p.Arg220Lys					ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K|ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000358987.3_Missense_Mutation_p.R220K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K	p.R223K	NM_001012753.1	NP_001012771.1					4	823	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.668G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384424	0.25031	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	1.17	-0.316	0.12743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.25647	0.755	0.25968	N	0.982536	B;B;B	0.24258	0.1;0.003;0.021	B;B;B	0.21360	0.034;0.006;0.003	T	0.26780	-1.0093	9	0.54805	T	0.06	.	5.8048	0.18434	0.0:0.0:0.687:0.313	.	240;220;223	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	K	240;223;98;220	ENSP00000438117:R240K;ENSP00000369774:R223K;ENSP00000446166:R98K;ENSP00000402017:R220K	ENSP00000369774:R223K	R	+	2	0	ZNF763	11950398	0.000000	0.05858	0.004000	0.12327	0.241000	0.25554	0.122000	0.15687	-0.352000	0.08237	0.205000	0.17691	AGA		0.383	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		9	126	0	0	0	1	0	9	126				
MYH7B	57644	broad.mit.edu	37	20	33577925	33577925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:33577925G>T	ENST00000262873.7	+	19	2094	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	626	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACTCTCTATGAGAATTATGC	0.557																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2002-2004)Gag>Tag		myosin, heavy chain 7B, cardiac muscle, beta							86.0	94.0	91.0					20																	33577925		2096	4232	6328	SO:0001587	stop_gained	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577925G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2002G>T	20.37:g.33577925G>T	ENSP00000262873:p.Glu668*						p.E668*	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2094	+			626			Actin-binding (By similarity).|Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Nonsense_Mutation	SNP	ENST00000262873.7	37	c.2002G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	37	6.425038	0.97555	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.29	4.29	0.51040	.	0.000000	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.2848	0.87138	0.0:0.0:1.0:0.0	.	.	.	.	X	668	.	ENSP00000262873:E668X	E	+	1	0	MYH7B	33041586	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.751000	0.85126	2.387000	0.81309	0.511000	0.50034	GAG		0.557	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		12	165	1	0	1.08611e-07	1	1.10915e-07	12	165				
ERC2	26059	broad.mit.edu	37	3	55733530	55733530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:55733530C>T	ENST00000288221.6	-	16	2978	c.2723G>A	c.(2722-2724)aGa>aAa	p.R908K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	908						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAACTTCATTCTGTTCTGGGT	0.468																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2722-2724)aGa>aAa		ELKS/RAB6-interacting/CAST family member 2							197.0	198.0	198.0					3																	55733530		2030	4196	6226	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733530C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2723G>A	3.37:g.55733530C>T	ENSP00000288221:p.Arg908Lys						p.R908K	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	2978	-			908					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2723G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313034	0.95655	.	.	ENSG00000187672	ENST00000288221	T	0.71817	-0.6	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.74881	2.28	0.53688	D	0.999974	P	0.49185	0.92	D	0.63957	0.92	D	0.84804	0.0786	10	0.87932	D	0	-15.7056	20.1253	0.97977	0.0:1.0:0.0:0.0	.	908	O15083	ERC2_HUMAN	K	908	ENSP00000288221:R908K	ENSP00000288221:R908K	R	-	2	0	ERC2	55708570	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.393000	0.79851	2.832000	0.97577	0.655000	0.94253	AGA		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		9	216	0	0	0	1	0	9	216				
TRPC7	57113	broad.mit.edu	37	5	135693001	135693001	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:135693001G>A	ENST00000513104.1	-	2	357	c.75C>T	c.(73-75)gcC>gcT	p.A25A	TRPC7_ENST00000426057.2_Silent_p.A25A|TRPC7_ENST00000355180.3_Silent_p.A25A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	25					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCCCGGATGGCCTGGCGAC	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(73-75)gcC>gcT		transient receptor potential cation channel, subfamily C, member 7							49.0	56.0	54.0					5																	135693001		2118	4238	6356	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693001G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.75C>T	5.37:g.135693001G>A						TRPC7_ENST00000355180.3_Silent_p.A25A|TRPC7_ENST00000426057.2_Silent_p.A25A	p.A25A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	357	-			25					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.75C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277531	0.23307	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.38	2.46	0.29980	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57516	-0.7798	4	.	.	.	-16.2525	11.42	0.49976	0.2252:0.0:0.7748:0.0	.	.	.	.	Y	25	.	.	H	-	1	0	TRPC7	135720900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.582000	0.23834	0.846000	0.35142	0.655000	0.94253	CAT		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		9	143	0	0	0	1	0	9	143				
TM9SF1	10548	broad.mit.edu	37	14	24662133	24662133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:24662133G>A	ENST00000261789.4	-	3	1046	c.688C>T	c.(688-690)Cga>Tga	p.R230*	TM9SF1_ENST00000528669.1_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.R439*|TM9SF1_ENST00000524835.1_Nonsense_Mutation_p.R143*|TM9SF1_ENST00000396854.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.R439*|RP11-468E2.2_ENST00000561419.1_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	230					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCCAGTGTTCGAGGAAAGAAA	0.512																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(1315-1317)Cga>Tga		transmembrane 9 superfamily member 1							118.0	101.0	107.0					14																	24662133		2203	4300	6503	SO:0001587	stop_gained	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24662133G>A	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.688C>T	14.37:g.24662133G>A	ENSP00000261789:p.Arg230*					TM9SF1_ENST00000396854.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000528669.1_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000524835.1_Nonsense_Mutation_p.R143*|TM9SF1_ENST00000261789.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.R439*	p.R439*			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	7	1348	-			230					D3DS65|Q86SZ6|Q96FI8	Nonsense_Mutation	SNP	ENST00000261789.4	37	c.1315C>T	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582764	0.97680	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000530611	.	.	.	5.1	2.22	0.28083	.	0.075946	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0068	6.4342	0.21815	0.0841:0.0:0.4465:0.4694	.	.	.	.	X	230;230;439;143;230;230;143;230;230;439	.	ENSP00000433967:R439X	R	-	1	2	TM9SF1;RP11-468E2.1	23731973	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	3.783000	0.55409	0.295000	0.22570	0.655000	0.94253	CGA		0.512	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		8	44	0	0	0	1	0	8	44				
ABCC11	85320	broad.mit.edu	37	16	48261722	48261722	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:48261722G>A	ENST00000394747.1	-	3	739	c.390C>T	c.(388-390)gtC>gtT	p.V130V	ABCC11_ENST00000356608.2_Silent_p.V130V|ABCC11_ENST00000394748.1_Silent_p.V130V|ABCC11_ENST00000537808.1_Silent_p.V130V|ABCC11_ENST00000353782.5_Silent_p.V130V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	130					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TTCACCTTTGGACATTTTTGT	0.512																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(388-390)gtC>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							144.0	132.0	136.0					16																	48261722		2200	4300	6500	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48261722G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.390C>T	16.37:g.48261722G>A						ABCC11_ENST00000394748.1_Silent_p.V130V|ABCC11_ENST00000356608.2_Silent_p.V130V|ABCC11_ENST00000353782.5_Silent_p.V130V|ABCC11_ENST00000537808.1_Silent_p.V130V	p.V130V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			3	739	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	130					Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.390C>T	CCDS10732.1																																																																																				0.512	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		9	149	0	0	0	1	0	9	149				
PNMAL2	57469	broad.mit.edu	37	19	46997421	46997421	+	Intron	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46997421G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.L434L|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCCCCGAAGAGGCCACGCC	0.672																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(1300-1302)ctC>ctT		paraneoplastic Ma antigen family-like 2							35.0	40.0	39.0					19																	46997421		1986	4146	6132	SO:0001627	intron_variant	57469							g.chr19:46997421G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+567C>T	19.37:g.46997421G>A						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.L434L	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2334	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	434					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.1302C>T																																																																																					0.672	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		4	66	0	0	0	1	0	4	66				
ATRX	546	broad.mit.edu	37	X	76938082	76938082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:76938082G>A	ENST00000373344.5	-	9	2880	c.2666C>T	c.(2665-2667)tCt>tTt	p.S889F	ATRX_ENST00000395603.3_Missense_Mutation_p.S851F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	889					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTGCTGAAGAGAAAGTCTC	0.413			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2665-2667)tCt>tTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236.0	225.0	229.0					X																	76938082		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938082G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2666C>T	X.37:g.76938082G>A	ENSP00000362441:p.Ser889Phe					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S851F	p.S889F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2880	-			889					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2666C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557323	0.27827	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93488	-3.19;-3.23	5.36	3.51	0.40186	.	0.534880	0.18522	N	0.138735	D	0.94006	0.8080	L	0.47716	1.5	0.23506	N	0.997531	D;D;D;D	0.65815	0.976;0.995;0.986;0.976	P;P;P;P	0.61201	0.656;0.885;0.814;0.656	D	0.87609	0.2502	10	0.59425	D	0.04	-3.3271	11.6143	0.51080	0.084:0.1567:0.7593:0.0	.	889;821;851;889	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	F	889;851;816	ENSP00000362441:S889F;ENSP00000378967:S851F	ENSP00000362441:S889F	S	-	2	0	ATRX	76824738	0.885000	0.30320	0.485000	0.27403	0.747000	0.42532	2.118000	0.41949	1.012000	0.39366	0.513000	0.50165	TCT		0.413	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		27	302	0	0	0	1	0	27	302				
MRC2	9902	broad.mit.edu	37	17	60757608	60757608	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:60757608C>T	ENST00000303375.5	+	15	2778	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	792	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCTGGCCTCCCTGCAGTGGG	0.652																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2374-2376)tcC>tcT		mannose receptor, C type 2							60.0	57.0	58.0					17																	60757608		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757608C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2376C>T	17.37:g.60757608C>T							p.S792S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			15	2778	+			792			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2376C>T	CCDS11634.1																																																																																				0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	63	0	0	0	1	0	4	63				
UNC13D	201294	broad.mit.edu	37	17	73836179	73836179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:73836179C>T	ENST00000207549.4	-	11	1250	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	UNC13D_ENST00000412096.2_Missense_Mutation_p.A291T|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	291	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCGGCTGGCCGAAGTGGCT	0.662									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-873)Gcc>Acc		unc-13 homolog D (C. elegans)							25.0	30.0	28.0					17																	73836179		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836179C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.871G>A	17.37:g.73836179C>T	ENSP00000207549:p.Ala291Thr					UNC13D_ENST00000412096.2_Missense_Mutation_p.A291T|UNC13D_ENST00000587504.1_5'UTR	p.A291T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1250	-			291			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.871G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904973	0.33628	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71817	-0.59;-0.6	4.35	3.35	0.38373	.	0.334577	0.28135	N	0.016474	T	0.45935	0.1367	N	0.14661	0.345	0.23076	N	0.998336	P;P	0.46064	0.872;0.773	B;B	0.38327	0.271;0.138	T	0.45469	-0.9259	10	0.56958	D	0.05	-11.5916	4.2185	0.10545	0.3123:0.5189:0.0:0.1688	.	291;291	B4DTQ6;Q70J99	.;UN13D_HUMAN	T	291	ENSP00000207549:A291T;ENSP00000388093:A291T	ENSP00000207549:A291T	A	-	1	0	UNC13D	71347774	0.102000	0.21896	0.932000	0.37286	0.684000	0.39900	0.300000	0.19156	2.234000	0.73211	0.563000	0.77884	GCC		0.662	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		3	34	0	0	0	1	0	3	34				
PNMAL2	57469	broad.mit.edu	37	19	46998332	46998332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46998332G>A	ENST00000377655.2	-	1	390	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.P131S|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G148E			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	131										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCGAAGCGGGAGGGGTGGGT	0.711																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(391-393)Ccc>Tcc		paraneoplastic Ma antigen family-like 2							45.0	49.0	48.0					19																	46998332		2203	4300	6503	SO:0001583	missense	57469							g.chr19:46998332G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.391C>T	19.37:g.46998332G>A	ENSP00000366883:p.Pro131Ser					PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G148E|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P131S	p.P131S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1423	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	131					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.391C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.372159|2.372159	0.42003|0.42003	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.09073	.|3.02	2.81|2.81	-2.54|-2.54	0.06307|0.06307	.|.	.|.	.|.	.|.	.|.	T|T	0.03348|0.03348	0.0097|0.0097	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.30889|0.33103	0.299|0.397	B|B	0.36289|0.28638	0.221|0.092	T|T	0.43130|0.43130	-0.9410|-0.9410	8|9	0.87932|0.34782	D|T	0|0.22	-5.8441|-5.8441	6.57|6.57	0.22533|0.22533	0.1231:0.5581:0.3188:0.0|0.1231:0.5581:0.3188:0.0	.|.	148|131	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	E|S	148|131	.|ENSP00000366883:P131S	ENSP00000366880:G148E|ENSP00000366883:P131S	G|P	+|-	2|1	0|0	AC011484.1|PNMAL2	51690172|51690172	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	.|.	.|.	-0.403000|-0.403000	0.07622|0.07622	-0.305000|-0.305000	0.09177|0.09177	GGA|CCC		0.711	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		7	139	0	0	0	1	0	7	139				
HSD17B2	3294	broad.mit.edu	37	16	82069268	82069268	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:82069268T>A	ENST00000199936.4	+	1	432	c.239T>A	c.(238-240)gTg>gAg	p.V80E		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	80					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGTTACCTGTGGATCAGAAG	0.473																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(238-240)gTg>gAg		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						143.0	118.0	127.0					16																	82069268		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82069268T>A		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.239T>A	16.37:g.82069268T>A	ENSP00000199936:p.Val80Glu						p.V80E	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			1	432	+			80					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.239T>A	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776363	0.70107	.	.	ENSG00000086696	ENST00000199936	T	0.44083	0.93	5.31	4.21	0.49690	.	0.274699	0.27393	N	0.019572	T	0.58206	0.2106	M	0.66939	2.045	0.39088	D	0.961044	D	0.76494	0.999	D	0.73380	0.98	T	0.61926	-0.6962	10	0.87932	D	0	.	8.3496	0.32295	0.0:0.0908:0.0:0.9092	.	80	P37059	DHB2_HUMAN	E	80	ENSP00000199936:V80E	ENSP00000199936:V80E	V	+	2	0	HSD17B2	80626769	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.574000	0.46016	0.953000	0.37825	0.482000	0.46254	GTG		0.473	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		7	154	0	0	0	1	0	7	154				
PLXNA3	55558	broad.mit.edu	37	X	153694154	153694154	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:153694154G>A	ENST00000369682.3	+	13	2671	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	832					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGAGCCAGAAGGGCACCC	0.672																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2494-2496)caG>caA		plexin A3							23.0	29.0	27.0					X																	153694154		2197	4294	6491	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694154G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2496G>A	X.37:g.153694154G>A							p.Q832Q	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			13	2671	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		832					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2496G>A	CCDS14752.1																																																																																				0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		4	31	0	0	0	1	0	4	31				
PRX	57716	broad.mit.edu	37	19	40900137	40900137	+	Silent	SNP	G	G	A	rs577823773		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:40900137G>A	ENST00000324001.7	-	7	4392	c.4122C>T	c.(4120-4122)gtC>gtT	p.V1374V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1374					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCGGACCCGGACCCGGCCCC	0.701																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4120-4122)gtC>gtT		periaxin							22.0	27.0	26.0					19																	40900137		2199	4292	6491	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900137G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4122C>T	19.37:g.40900137G>A						PRX_ENST00000291825.7_3'UTR	p.V1374V	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4392	-			1374					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.4122C>T	CCDS33028.1																																																																																				0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	53	0	0	0	1	0	6	53				
OR2T1	26696	broad.mit.edu	37	1	248569508	248569508	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248569508G>A	ENST00000366474.1	+	1	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	71						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(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAACAGAAAGGAAACCTCAG	0.428																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(211-213)aaG>aaA		olfactory receptor, family 2, subfamily T, member 1							154.0	147.0	149.0					1																	248569508		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569508G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.213G>A	1.37:g.248569508G>A							p.K71K	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	213	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		71					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.213G>A	CCDS31115.1																																																																																				0.428	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			9	202	0	0	0	1	0	9	202				
TCEAL6	158931	broad.mit.edu	37	X	101395946	101395946	+	Missense_Mutation	SNP	C	C	T	rs376334850		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:101395946C>T	ENST00000372774.3	-	3	607	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D120N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D120N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTGGGGGAATCGTCCGTCCCC	0.577																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.D120N(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(358-360)Gat>Aat		transcription elongation factor A (SII)-like 6		C	ASN/ASP	0,3835		0,0,0,1632,571	100.0	93.0	95.0		358	0.9	0.0	X		95	1,6727		0,0,1,2428,1871	no	missense	TCEAL6	NM_001006938.2	23	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	120/184	101395946	1,10562	2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101395946C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.358G>A	X.37:g.101395946C>T	ENSP00000361860:p.Asp120Asn					TCEAL6_ENST00000372773.1_Missense_Mutation_p.D120N	p.D120N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	607	-			120					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.358G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097651	0.20552	0.0	1.49E-4	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.09911	2.93;2.93	2.75	0.888	0.19206	.	0.000000	0.39834	N	0.001248	T	0.23806	0.0576	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02751	-1.1115	10	0.45353	T	0.12	.	8.034	0.30482	0.0:0.5087:0.4913:0.0	.	120	Q6IPX3-2	.	N	120	ENSP00000361860:D120N;ENSP00000361859:D120N	ENSP00000361859:D120N	D	-	1	0	TCEAL6	101282602	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	-0.652000	0.05366	0.113000	0.18004	0.468000	0.43344	GAT		0.577	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		11	100	0	0	0	1	0	11	100				
KIAA2026	158358	broad.mit.edu	37	9	6007476	6007476	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:6007476G>A	ENST00000399933.3	-	1	311	c.312C>T	c.(310-312)ccC>ccT	p.P104P	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Silent_p.P104P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	104										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGCCCCCCAAGGGCTGCAGAA	0.721																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(310-312)ccC>ccT		KIAA2026							14.0	17.0	16.0					9																	6007476		1883	4093	5976	SO:0001819	synonymous_variant	158358							g.chr9:6007476G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.312C>T	9.37:g.6007476G>A						KIAA2026_ENST00000381461.2_Silent_p.P104P	p.P104P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	311	-		Acute lymphoblastic leukemia(23;0.158)	104					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.312C>T																																																																																					0.721	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		6	33	0	0	0	1	0	6	33				
DSCAM	1826	broad.mit.edu	37	21	41710112	41710112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:41710112C>T	ENST00000400454.1	-	8	2176	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	567	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E567K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCCACTTCCTTTTGCACA	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			2	Substitution - Missense(2)	p.E567K(2)	lung(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1699-1701)Gaa>Aaa		Down syndrome cell adhesion molecule							166.0	159.0	162.0					21																	41710112		2000	4170	6170	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710112C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1699G>A	21.37:g.41710112C>T	ENSP00000383303:p.Glu567Lys						p.E567K	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2176	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	567			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1699G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092731	0.36952	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.79454	-1.27;-1.27	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062202	0.64402	D	0.000005	T	0.71281	0.3321	L	0.33245	0.995	0.46849	D	0.999229	B	0.27013	0.166	B	0.31946	0.138	T	0.65129	-0.6243	10	0.15066	T	0.55	.	19.6736	0.95921	0.0:1.0:0.0:0.0	.	567	O60469	DSCAM_HUMAN	K	567;319	ENSP00000383303:E567K;ENSP00000385342:E319K	ENSP00000383303:E567K	E	-	1	0	DSCAM	40631982	1.000000	0.71417	0.988000	0.46212	0.903000	0.53119	5.751000	0.68720	2.723000	0.93209	0.655000	0.94253	GAA		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	152	0	0	0	1	0	11	152				
FLNB	2317	broad.mit.edu	37	3	58089729	58089729	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:58089729G>A	ENST00000295956.4	+	10	1692	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	FLNB_ENST00000358537.3_Silent_p.G509G|FLNB_ENST00000419752.2_Silent_p.G340G|FLNB_ENST00000348383.5_Silent_p.G509G|FLNB_ENST00000357272.4_Silent_p.G509G|FLNB_ENST00000429972.2_Silent_p.G509G|FLNB_ENST00000490882.1_Silent_p.G509G|FLNB_ENST00000493452.1_Silent_p.G340G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	509					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCTGGATGGGGTCTACGCAT	0.527																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(1525-1527)ggG>ggA		filamin B, beta							89.0	90.0	90.0					3																	58089729		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58089729G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1527G>A	3.37:g.58089729G>A						FLNB_ENST00000490882.1_Silent_p.G509G|FLNB_ENST00000358537.3_Silent_p.G509G|FLNB_ENST00000348383.5_Silent_p.G509G|FLNB_ENST00000295956.4_Silent_p.G509G|FLNB_ENST00000493452.1_Silent_p.G340G|FLNB_ENST00000429972.2_Silent_p.G509G|FLNB_ENST00000419752.2_Silent_p.G340G	p.G509G			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	10	1692	+			509					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.1527G>A	CCDS2885.1																																																																																				0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		7	106	0	0	0	1	0	7	106				
OR56A3	390083	broad.mit.edu	37	11	5968693	5968693	+	Silent	SNP	C	C	T	rs267603043		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5968693C>T	ENST00000329564.6	+	1	124	c.117C>T	c.(115-117)ttC>ttT	p.F39F	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCTTTTCCTCTTGGCCG	0.592																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(115-117)ttC>ttT		olfactory receptor, family 56, subfamily A, member 3							103.0	107.0	106.0					11																	5968693		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968693C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.117C>T	11.37:g.5968693C>T							p.F39F	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	124	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	39					A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.117C>T	CCDS41614.1																																																																																				0.592	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		12	144	0	0	0	1	0	12	144				
CAPRIN2	65981	broad.mit.edu	37	12	30878929	30878929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:30878929G>A	ENST00000395805.2	-	9	2423	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q293*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q626*	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGAATCTGAGTCATCAGA	0.398																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1876-1878)Cag>Tag		caprin family member 2							97.0	89.0	92.0					12																	30878929		2203	4300	6503	SO:0001587	stop_gained	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30878929G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1876C>T	12.37:g.30878929G>A	ENSP00000379150:p.Gln626*					CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q293*	p.Q626*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			9	2626	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		626						Nonsense_Mutation	SNP	ENST00000395805.2	37	c.1876C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	37	6.462290	0.97585	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	.	.	.	5.56	5.56	0.83823	.	0.456848	0.23773	N	0.044719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.1847	19.5174	0.95170	0.0:0.0:1.0:0.0	.	.	.	.	X	372;626;626;626;293;626;352;545	.	ENSP00000251071:Q626X	Q	-	1	0	CAPRIN2	30770196	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.897000	0.56273	2.600000	0.87896	0.650000	0.86243	CAG		0.398	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		7	83	0	0	0	1	0	7	83				
MUC16	94025	broad.mit.edu	37	19	9047026	9047026	+	Silent	SNP	C	C	G	rs185232526		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9047026C>G	ENST00000397910.4	-	5	34808	c.34605G>C	c.(34603-34605)acG>acC	p.T11535T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATAGTTGTCGTTGAAACAG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34603-34605)acG>acC		mucin 16, cell surface associated							127.0	122.0	124.0					19																	9047026		2041	4186	6227	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047026C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34605G>C	19.37:g.9047026C>G							p.T11535T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34808	-			11537			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.34605G>C	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	102	0	0	0	1	0	7	102				
SH2D3C	10044	broad.mit.edu	37	9	130509452	130509452	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:130509452C>A	ENST00000314830.8	-	6	1351	c.1238G>T	c.(1237-1239)aGc>aTc	p.S413I	SH2D3C_ENST00000373276.3_Missense_Mutation_p.S345I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S59I|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S255I|SH2D3C_ENST00000373274.3_Missense_Mutation_p.S253I|SH2D3C_ENST00000373277.4_Missense_Mutation_p.S256I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	413					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGCTAGGGCTCTCGGAGAT	0.607																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1237-1239)aGc>aTc		SH2 domain containing 3C							100.0	93.0	95.0					9																	130509452		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130509452C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1238G>T	9.37:g.130509452C>A	ENSP00000317817:p.Ser413Ile					SH2D3C_ENST00000373274.3_Missense_Mutation_p.S253I|SH2D3C_ENST00000373277.4_Missense_Mutation_p.S256I|SH2D3C_ENST00000373276.3_Missense_Mutation_p.S345I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S255I|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S59I	p.S413I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			6	1351	-			413					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1238G>T	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090694|3.090694	0.55968|0.55968	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.|T;T;T;T;T;T	.|0.61742	.|0.08;0.08;0.08;0.08;0.08;0.08	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	.|0.216678	.|0.56097	.|D	.|0.000030	T|T	0.47377|0.47377	0.1442|0.1442	L|L	0.44542|0.44542	1.39|1.39	0.40561|0.40561	D|D	0.981219|0.981219	.|P;P;P;P;P	.|0.51933	.|0.454;0.454;0.949;0.919;0.834	.|B;B;B;B;B	.|0.43052	.|0.057;0.153;0.23;0.406;0.226	T|T	0.52764|0.52764	-0.8532|-0.8532	5|10	.|0.72032	.|D	.|0.01	-14.6321|-14.6321	5.7564|5.7564	0.18176|0.18176	0.0:0.6621:0.1613:0.1765|0.0:0.6621:0.1613:0.1765	.|.	.|253;413;345;256;255	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	S|I	250|256;255;345;253;59;413	.|ENSP00000362374:S256I;ENSP00000388536:S255I;ENSP00000362373:S345I;ENSP00000362371:S253I;ENSP00000394632:S59I;ENSP00000317817:S413I	.|ENSP00000317817:S413I	A|S	-|-	1|2	0|0	SH2D3C|SH2D3C	129549273|129549273	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	1.386000|1.386000	0.34419|0.34419	1.320000|1.320000	0.45209|0.45209	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.607	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	119	1	0	0.217242	1	0.217242	6	119				
ATF7	11016	broad.mit.edu	37	12	53918429	53918429	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53918429G>A	ENST00000548446.2	-	10	1189	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	ATF7_ENST00000328463.7_Silent_p.R359R|ATF7_ENST00000420353.2_Silent_p.R348R|ATF7_ENST00000415113.1_Silent_p.R327R|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Silent_p.R348R|ATF7_ENST00000456903.4_Silent_p.R348R			P17544	ATF7_HUMAN	activating transcription factor 7	359	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Essential for binding adenovirus 2 E1A.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	TTTGGCGGCAGCGGGAGGCTG	0.607																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(1042-1044)cgC>cgT		activating transcription factor 7							49.0	49.0	49.0					12																	53918429		1878	4091	5969	SO:0001819	synonymous_variant	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53918429G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1077C>T	12.37:g.53918429G>A						ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000456903.4_Silent_p.R348R|RP11-793H13.10_ENST00000591834.1_Silent_p.R348R|ATF7_ENST00000548446.2_Silent_p.R359R|ATF7_ENST00000328463.7_Silent_p.R359R|ATF7_ENST00000415113.1_Silent_p.R327R	p.R348R	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			10	1193	-			359			Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37	c.1044C>T																																																																																					0.607	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		4	81	0	0	0	1	0	4	81				
KLHDC4	54758	broad.mit.edu	37	16	87782314	87782314	+	Silent	SNP	G	G	A	rs201808597		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:87782314G>A	ENST00000270583.5	-	5	529	c.471C>T	c.(469-471)gtC>gtT	p.V157V	KLHDC4_ENST00000347925.5_Silent_p.V157V|RP11-278A23.2_ENST00000563036.1_RNA|KLHDC4_ENST00000353170.5_Silent_p.V100V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	157								p.V157V(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCAAATGCAGGACCCAGAGAT	0.567																																						ENST00000270583.5																			1	Substitution - coding silent(1)	p.V157V(1)	endometrium(1)	breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(469-471)gtC>gtT		kelch domain containing 4							170.0	169.0	169.0					16																	87782314		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87782314G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.471C>T	16.37:g.87782314G>A						KLHDC4_ENST00000347925.5_Silent_p.V157V|KLHDC4_ENST00000353170.5_Silent_p.V100V	p.V157V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	529	-			157					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.471C>T	CCDS10963.1																																																																																				0.567	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		14	253	0	0	0	1	0	14	253				
CRX	1406	broad.mit.edu	37	19	48342874	48342874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:48342874C>T	ENST00000221996.7	+	4	756	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	CRX_ENST00000539067.1_Missense_Mutation_p.P184S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	184					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GGCCTCAGGGCCGTCTCTGAC	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(550-552)Ccg>Tcg		cone-rod homeobox							45.0	45.0	45.0					19																	48342874		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342874C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.550C>T	19.37:g.48342874C>T	ENSP00000221996:p.Pro184Ser					CRX_ENST00000539067.1_Missense_Mutation_p.P184S|TPRX2P_ENST00000535362.1_Intron	p.P184S	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	756	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	184					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.550C>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.231297	0.00280	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.85411	-1.98;-1.98	3.93	0.322	0.15888	Transcription factor Otx, C-terminal (1);	0.520751	0.14751	N	0.300606	T	0.49525	0.1562	N	0.00569	-1.365	0.09310	N	0.999991	B	0.18166	0.026	B	0.16289	0.015	T	0.54761	-0.8245	10	0.02654	T	1	-0.7769	5.5415	0.17041	0.0:0.6389:0.1631:0.198	.	184	O43186	CRX_HUMAN	S	184	ENSP00000221996:P184S;ENSP00000445565:P184S	ENSP00000221996:P184S	P	+	1	0	CRX	53034686	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	0.577000	0.23758	0.338000	0.23692	0.467000	0.42956	CCG		0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		7	118	0	0	0	1	0	7	118				
TULP2	7288	broad.mit.edu	37	19	49398633	49398633	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:49398633C>T	ENST00000221399.3	-	5	483	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	113					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTGCTTCTGTCCGCGGTGTCG	0.612																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(337-339)cgG>cgA		tubby like protein 2							76.0	86.0	82.0					19																	49398633		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49398633C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.339G>A	19.37:g.49398633C>T							p.R113R	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	5	483	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	113					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.339G>A	CCDS12739.1																																																																																				0.612	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		10	136	0	0	0	1	0	10	136				
DLG4	1742	broad.mit.edu	37	17	7096290	7096290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7096290G>A	ENST00000399506.2	-	17	2031	c.1840C>T	c.(1840-1842)Cag>Tag	p.Q614*	DLG4_ENST00000302955.6_Nonsense_Mutation_p.Q611*|DLG4_ENST00000399510.2_Nonsense_Mutation_p.Q657*			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	614	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGCACGGACTGGACGCTGGTC	0.612																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1969-1971)Cag>Tag		discs, large homolog 4 (Drosophila)							43.0	47.0	46.0					17																	7096290		2046	4184	6230	SO:0001587	stop_gained	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7096290G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1840C>T	17.37:g.7096290G>A	ENSP00000382425:p.Gln614*					DLG4_ENST00000399506.2_Nonsense_Mutation_p.Q614*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.Q611*	p.Q657*	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			19	2821	-			614			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Nonsense_Mutation	SNP	ENST00000399506.2	37	c.1969C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.814433	0.98504	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.0757	0.64889	0.0:0.0:1.0:0.0	.	.	.	.	X	614;611;657;657;554;657	.	ENSP00000293813:Q657X	Q	-	1	0	DLG4	7037014	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.657000	0.83745	2.181000	0.69327	0.643000	0.83706	CAG		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		6	53	0	0	0	1	0	6	53				
FAM47A	158724	broad.mit.edu	37	X	34148911	34148911	+	Silent	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:34148911A>T	ENST00000346193.3	-	1	1536	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	495			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCTTGGGAGGCTGCGAGT	0.652																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1483-1485)ccT>ccA		family with sequence similarity 47, member A							44.0	50.0	48.0					X																	34148911		2195	4290	6485	SO:0001819	synonymous_variant	158724							g.chrX:34148911A>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1485T>A	X.37:g.34148911A>T							p.P495P	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1536	-			495		Missing.			A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1485T>A	CCDS43926.1																																																																																				0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		5	70	0	0	0	1	0	5	70				
TRIM32	22954	broad.mit.edu	37	9	119461731	119461731	+	Silent	SNP	G	G	A	rs555217187		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119461731G>A	ENST00000450136.1	+	2	1871	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.S570S|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	570					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ACTTCTTCTCGGAGAATGAGG	0.532																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1708-1710)tcG>tcA		tripartite motif containing 32							96.0	91.0	93.0					9																	119461731		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461731G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1710G>A	9.37:g.119461731G>A						ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.S570S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	p.S570S	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1871	+			570					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1710G>A	CCDS6817.1																																																																																				0.532	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		4	67	0	0	0	1	0	4	67				
PCDH11X	27328	broad.mit.edu	37	X	91133258	91133258	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:91133258C>T	ENST00000373094.1	+	2	2864	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	PCDH11X_ENST00000373097.1_Silent_p.F673F|PCDH11X_ENST00000361724.1_Silent_p.F673F|PCDH11X_ENST00000373088.1_Silent_p.F673F|PCDH11X_ENST00000504220.2_Silent_p.F673F|PCDH11X_ENST00000361655.2_Silent_p.F673F|PCDH11X_ENST00000395337.2_Silent_p.F673F|PCDH11X_ENST00000298274.8_Silent_p.F673F|PCDH11X_ENST00000406881.1_Silent_p.F673F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	673	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACCAGTTTTCATTGTCCCTC	0.423																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2017-2019)ttC>ttT		protocadherin 11 X-linked							153.0	136.0	142.0					X																	91133258		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133258C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2019C>T	X.37:g.91133258C>T						PCDH11X_ENST00000361724.1_Silent_p.F673F|PCDH11X_ENST00000373097.1_Silent_p.F673F|PCDH11X_ENST00000361655.2_Silent_p.F673F|PCDH11X_ENST00000373088.1_Silent_p.F673F|PCDH11X_ENST00000504220.1_Silent_p.F673F|PCDH11X_ENST00000298274.8_Silent_p.F673F|PCDH11X_ENST00000406881.1_Silent_p.F673F|PCDH11X_ENST00000395337.2_Silent_p.F673F	p.F673F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2864	+			673			Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2019C>T	CCDS14461.1																																																																																				0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		10	124	0	0	0	1	0	10	124				
LARP1	23367	broad.mit.edu	37	5	154173241	154173241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154173241C>T	ENST00000336314.4	+	5	619	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CACTCGCCCACCGGAGCCTAG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(595-597)Ccg>Tcg		La ribonucleoprotein domain family, member 1							124.0	135.0	131.0					5																	154173241		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154173241C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.595C>T	5.37:g.154173241C>T	ENSP00000336721:p.Pro199Ser						p.P199S	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	619	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	276					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.595C>T	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.051|0.051	-1.248940|-1.248940	0.01469|0.01469	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163|ENST00000518194	T;T;T;T|.	0.44083|.	2.01;1.55;1.6;0.93|.	5.91|5.91	3.97|3.97	0.46021|0.46021	.|.	0.319538|.	0.36101|.	N|.	0.002784|.	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.14661|0.14661	0.345|0.345	0.27644|0.27644	N|N	0.947616|0.947616	B;B|.	0.20887|.	0.001;0.049|.	B;B|.	0.21151|.	0.002;0.033|.	T|T	0.15636|0.15636	-1.0430|-1.0430	10|5	0.07813|.	T|.	0.8|.	-5.0846|-5.0846	7.1285|7.1285	0.25486|0.25486	0.3541:0.5578:0.0:0.0881|0.3541:0.5578:0.0:0.0881	.|.	276;199|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	S|I	199;276;71;71;51|37	ENSP00000336721:P199S;ENSP00000428589:P276S;ENSP00000429904:P71S;ENSP00000430438:P51S|.	ENSP00000336721:P199S|.	P|T	+|+	1|2	0|0	LARP1|LARP1	154153434|154153434	0.392000|0.392000	0.25229|0.25229	0.280000|0.280000	0.24747|0.24747	0.190000|0.190000	0.23558|0.23558	1.645000|1.645000	0.37238|0.37238	1.503000|1.503000	0.48686|0.48686	0.655000|0.655000	0.94253|0.94253	CCG|ACC		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		13	322	0	0	0	1	0	13	322				
C1orf158	93190	broad.mit.edu	37	1	12819360	12819360	+	Missense_Mutation	SNP	C	C	T	rs143618581	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12819360C>T	ENST00000288048.5	+	3	559	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C1orf158_ENST00000376210.3_Missense_Mutation_p.R77C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	115										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCACTCCGCACTTGGAA	0.542													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20902	0.0		0.001	False		,,,				2504	0.0					ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(343-345)Cgc>Tgc		chromosome 1 open reading frame 158		C	CYS/ARG	3,4403		0,3,2200	119.0	122.0	121.0		343	4.8	0.6	1	dbSNP_134	121	1,8599		0,1,4299	yes	missense	C1orf158	NM_152290.2	180	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	115/195	12819360	4,13002	2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819360C>T	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.343C>T	1.37:g.12819360C>T	ENSP00000288048:p.Arg115Cys					C1orf158_ENST00000376210.3_Missense_Mutation_p.R77C	p.R115C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	559	+	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)	115					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.343C>T	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.248664	0.59103	6.81E-4	1.16E-4	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.73047	-0.53;-0.71	5.69	4.77	0.60923	.	0.057423	0.64402	N	0.000001	D	0.82449	0.5039	M	0.79475	2.455	0.29760	N	0.835604	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.79130	-0.1930	10	0.87932	D	0	-21.3366	11.086	0.48086	0.0:0.9122:0.0:0.0878	.	115;115	B4DQE0;Q8N1D5	.;CA158_HUMAN	C	115;77	ENSP00000288048:R115C;ENSP00000365383:R77C	ENSP00000288048:R115C	R	+	1	0	C1orf158	12741947	0.695000	0.27747	0.572000	0.28498	0.646000	0.38490	2.348000	0.44045	2.684000	0.91462	0.655000	0.94253	CGC		0.542	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		10	217	0	0	0	1	0	10	217				
CCDC39	339829	broad.mit.edu	37	3	180381721	180381721	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:180381721A>T	ENST00000442201.2	-	2	263	c.144T>A	c.(142-144)taT>taA	p.Y48*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.Y132*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	48					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCATACTCACGTA	0.318																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(394-396)taT>taA		coiled-coil domain containing 39							161.0	152.0	155.0					3																	180381721		1849	4107	5956	SO:0001587	stop_gained	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381721A>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.144T>A	3.37:g.180381721A>T	ENSP00000405708:p.Tyr48*					CCDC39_ENST00000442201.2_Nonsense_Mutation_p.Y48*	p.Y132*			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1015	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		48					B4E2H1	Nonsense_Mutation	SNP	ENST00000442201.2	37	c.396T>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	38	6.675712	0.97755	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	.	.	.	6.07	4.91	0.64330	.	0.371433	0.31210	N	0.008054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3083	10.0872	0.42425	0.9235:0.0:0.0765:0.0	.	.	.	.	X	132;48;30	.	ENSP00000273654:Y132X	Y	-	3	2	CCDC39	181864415	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	1.537000	0.36083	1.108000	0.41662	0.477000	0.44152	TAT		0.318	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		12	120	0	0	0	1	0	12	120				
MDN1	23195	broad.mit.edu	37	6	90440563	90440563	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:90440563C>T	ENST00000369393.3	-	35	5137	c.5022G>A	c.(5020-5022)aaG>aaA	p.K1674K	MDN1_ENST00000428876.1_Silent_p.K1674K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1674					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCGTACTATCTTGGCAAGCC	0.393																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5020-5022)aaG>aaA		MDN1, midasin homolog (yeast)							109.0	102.0	104.0					6																	90440563		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90440563C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5022G>A	6.37:g.90440563C>T						MDN1_ENST00000428876.1_Silent_p.K1674K	p.K1674K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	35	5137	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1674					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.5022G>A	CCDS5024.1																																																																																				0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	105	0	0	0	1	0	6	105				
GADD45GIP1	90480	broad.mit.edu	37	19	13065259	13065259	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:13065259C>T	ENST00000316939.1	-	2	455	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	144					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CCTGGGCCTTCTCCCAGTTCT	0.642																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(430-432)gaG>gaA		growth arrest and DNA-damage-inducible, gamma interacting protein 1							64.0	59.0	61.0					19																	13065259		2203	4300	6503	SO:0001819	synonymous_variant	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065259C>T	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.432G>A	19.37:g.13065259C>T							p.E144E	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	455	-			144					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Silent	SNP	ENST00000316939.1	37	c.432G>A	CCDS12290.1																																																																																				0.642	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		6	121	0	0	0	1	0	6	121				
CPPED1	55313	broad.mit.edu	37	16	12798616	12798616	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:12798616G>T	ENST00000381774.4	-	3	820	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGTGCCGCTGCCTCGCGATG	0.602																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(580-582)Cag>Aag		calcineurin-like phosphoesterase domain containing 1							66.0	70.0	69.0					16																	12798616		2132	4254	6386	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798616G>T	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.580C>A	16.37:g.12798616G>T	ENSP00000371193:p.Gln194Lys					CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	p.Q194K	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	820	-			194					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.580C>A	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.946934	0.00475	.	.	ENSG00000103381	ENST00000381774	T	0.67345	-0.26	5.32	2.15	0.27550	Metallophosphoesterase domain (1);	0.406771	0.29444	N	0.012140	T	0.48642	0.1511	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.26087	-1.0113	10	0.05436	T	0.98	-11.7989	15.1818	0.72965	0.0:0.568:0.432:0.0	.	194	Q9BRF8	CPPED_HUMAN	K	194	ENSP00000371193:Q194K	ENSP00000371193:Q194K	Q	-	1	0	CPPED1	12706117	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.046000	0.14035	0.198000	0.20407	0.650000	0.86243	CAG		0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		7	101	1	0	0.0293803	1	0.0294211	7	101				
CNTNAP4	85445	broad.mit.edu	37	16	76461356	76461356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:76461356C>T	ENST00000476707.1	+	3	546	c.407C>T	c.(406-408)tCa>tTa	p.S136L	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S132L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S108L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S132L|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	133	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAGGGTTTTTCAGGAAATGCA	0.423																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(394-396)tCa>tTa		contactin associated protein-like 4							180.0	183.0	182.0					16																	76461356		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461356C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.407C>T	16.37:g.76461356C>T	ENSP00000417628:p.Ser136Leu					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S108L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S136L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S132L	p.S132L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			5	780	+			133			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.395C>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.836723	0.32421	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	4.98	1.98	0.26296	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.32578	N	0.005919	D	0.94542	0.8242	.	.	.	0.30084	N	0.808946	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.10450	0.005;0.005;0.005;0.002	D	0.89277	0.3609	9	0.30078	T	0.28	.	8.3567	0.32335	0.0:0.6923:0.0:0.3077	.	108;136;108;133	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	132;132;108;136	ENSP00000306893:S132L;ENSP00000439733:S132L;ENSP00000418741:S108L;ENSP00000417628:S136L	ENSP00000306893:S132L	S	+	2	0	CNTNAP4	75018857	0.998000	0.40836	0.967000	0.41034	0.896000	0.52359	2.425000	0.44723	0.396000	0.25283	-0.136000	0.14681	TCA		0.423	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		9	211	0	0	0	1	0	9	211				
CT47B1	643311	broad.mit.edu	37	X	120008750	120008750	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:120008750C>T	ENST00000371311.3	-	1	1029	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	259										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCCCCTTACCCTCGGGGGCC	0.687																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.e1+1		cancer/testis antigen family 47, member B1							29.0	27.0	27.0					X																	120008750		692	1590	2282	SO:0001630	splice_region_variant	643311							g.chrX:120008750C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.775+1G>A	X.37:g.120008750C>T							p.E259_splice	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	1029	-			259					A6NM97	Splice_Site	SNP	ENST00000371311.3	37	c.775_splice	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854073	0.32791	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.6	1.6	0.23607	.	.	.	.	.	T	0.20170	0.0485	L	0.29908	0.895	0.09310	N	1	D	0.55172	0.97	B	0.42386	0.386	T	0.09164	-1.0687	7	.	.	.	.	6.1898	0.20518	0.0:1.0:0.0:0.0	.	259	P0C2W7	CT47B_HUMAN	K	259	.	.	E	-	1	0	CT47B1	119892778	0.002000	0.14202	0.010000	0.14722	0.074000	0.17049	0.029000	0.13666	1.115000	0.41800	0.171000	0.16805	GAA		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718	Missense_Mutation	5	86	0	0	0	1	0	5	86				
MFN2	9927	broad.mit.edu	37	1	12067148	12067148	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12067148C>T	ENST00000235329.5	+	17	2233	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	MFN2_ENST00000444836.1_Silent_p.S637S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	637					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCCCTCTCCTTTGGGCTCT	0.632																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(1909-1911)tcC>tcT		mitofusin 2							126.0	115.0	119.0					1																	12067148		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12067148C>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1911C>T	1.37:g.12067148C>T						MFN2_ENST00000444836.1_Silent_p.S637S	p.S637S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	17	2233	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	637					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.1911C>T	CCDS30587.1																																																																																				0.632	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		7	201	0	0	0	1	0	7	201				
ATP5S	27109	broad.mit.edu	37	14	50798841	50798841	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:50798841C>T	ENST00000358473.1	+	5	588	c.588C>T	c.(586-588)gcC>gcT	p.A196A	CDKL1_ENST00000216378.2_3'UTR|CDKL1_ENST00000395834.1_Intron			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TCCCTGGGGCCCTGGTTGATA	0.552																																						ENST00000358473.1																			0				breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12						c.(586-588)gcC>gcT		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)																																				SO:0001819	synonymous_variant	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50798841C>T	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000358473.1:c.588C>T	14.37:g.50798841C>T						CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR	p.A196A			Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	5	588	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		0					A8K1U3|D9N156|Q8WWX3|Q96F77	Silent	SNP	ENST00000358473.1	37	c.588C>T																																																																																					0.552	ATP5S-011	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000410765.1	NM_015684		6	43	0	0	0	1	0	6	43				
BRINP3	339479	broad.mit.edu	37	1	190234027	190234027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:190234027G>A	ENST00000367462.3	-	4	817	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Missense_Mutation_p.H94Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	196	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGAATGTGGTGAAGTCTCCGA	0.428																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(586-588)Cac>Tac									132.0	128.0	129.0					1																	190234027		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234027G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.586C>T	1.37:g.190234027G>A	ENSP00000356432:p.His196Tyr					RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Missense_Mutation_p.H94Y|FAM5C_ENST00000484105.1_5'UTR	p.H196Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			4	817	-	Prostate(682;0.198)		196					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.586C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662697	0.88251	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22134	2.23;1.97	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.75264	2.295	0.58432	D	0.999996	D;D	0.62365	0.989;0.991	D;D	0.74023	0.969;0.982	T	0.47209	-0.9135	10	0.87932	D	0	.	17.2276	0.86975	0.0:0.0:1.0:0.0	.	94;196	B7Z260;Q76B58	.;FAM5C_HUMAN	Y	196;94	ENSP00000356432:H196Y;ENSP00000438022:H94Y	ENSP00000356432:H196Y	H	-	1	0	FAM5C	188500650	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.275000	0.95738	2.673000	0.90976	0.585000	0.79938	CAC		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		6	116	0	0	0	1	0	6	116				
TONSL	4796	broad.mit.edu	37	8	145657757	145657757	+	Missense_Mutation	SNP	C	C	T	rs200752425		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145657757C>T	ENST00000409379.3	-	23	3675	c.3646G>A	c.(3646-3648)Ggc>Agc	p.G1216S	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1216					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGAGGGTGCCGGCGGGCAGG	0.657																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3646-3648)Ggc>Agc		tonsoku-like, DNA repair protein							62.0	68.0	66.0					8																	145657757		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145657757C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3646G>A	8.37:g.145657757C>T	ENSP00000386239:p.Gly1216Ser						p.G1216S	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			23	3675	-			1216					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3646G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	N	2.452	-0.326232	0.05350	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.40225	1.04	5.03	-3.8	0.04307	.	1.141880	0.06233	N	0.689046	T	0.12220	0.0297	N	0.02275	-0.615	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.15723	-1.0427	10	0.08599	T	0.76	0.0964	0.4819	0.00549	0.2038:0.2139:0.3196:0.2627	.	1216	Q96HA7	TONSL_HUMAN	S	1216;1215	ENSP00000386239:G1216S	ENSP00000386239:G1216S	G	-	1	0	TONSL	145628565	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.544000	0.02192	-0.761000	0.04670	-1.265000	0.01443	GGC		0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		13	107	0	0	0	1	0	13	107				
EIF3L	51386	broad.mit.edu	37	22	38245379	38245379	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:38245379G>A	ENST00000412331.2	+	0	505				MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000406934.1_5'Flank|EIF3L_ENST00000381683.6_5'Flank|ANKRD54_ENST00000609454.1_5'Flank	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGAGTGGGGCTGAACTTCC	0.632																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15								eukaryotic translation initiation factor 3, subunit L							21.0	21.0	21.0					22																	38245379		692	1591	2283			51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38245379G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.-78G>A	22.37:g.38245379G>A								NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			0	505	+									Translation_Start_Site	SNP	ENST00000412331.2	37		CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749809	0.69533	.	.	ENSG00000100129	ENST00000425539	.	.	.	4.73	-2.67	0.06059	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.44390	-0.9331	5	0.87932	D	0	7.3259	5.276	0.15649	0.4341:0.1423:0.4235:0.0	.	.	.	.	T	18	.	ENSP00000400645:A18T	A	+	1	0	EIF3L	36575325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.244000	0.08903	-0.466000	0.06943	-0.182000	0.12963	GCT		0.632	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		9	152	0	0	0	1	0	9	152				
SCAF4	57466	broad.mit.edu	37	21	33076110	33076110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:33076110G>A	ENST00000286835.7	-	4	671	c.289C>T	c.(289-291)Caa>Taa	p.Q97*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q97*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q82*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	97	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TATAAATATTGGAATGTGGCA	0.269																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(289-291)Caa>Taa		SR-related CTD-associated factor 4							63.0	63.0	63.0					21																	33076110		2203	4299	6502	SO:0001587	stop_gained	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33076110G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.289C>T	21.37:g.33076110G>A	ENSP00000286835:p.Gln97*					SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q82*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q97*	p.Q97*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			4	671	-			97			CID.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	ENST00000286835.7	37	c.289C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	39	7.626989	0.98396	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.83	5.83	0.93111	.	0.059102	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-14.4764	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	82;97;97	.	ENSP00000286835:Q97X	Q	-	1	0	SCAF4	31997981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.770000	0.95276	0.655000	0.94253	CAA		0.269	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		5	71	0	0	0	1	0	5	71				
GPR4	2828	broad.mit.edu	37	19	46094693	46094693	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46094693C>T	ENST00000323040.4	-	2	1376	c.432G>A	c.(430-432)acG>acA	p.T144T	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	144					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCCGTGGCCCAGA	0.672																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(430-432)acG>acA		G protein-coupled receptor 4							38.0	44.0	42.0					19																	46094693		2203	4299	6502	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094693C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.432G>A	19.37:g.46094693C>T						OPA3_ENST00000544371.1_Intron	p.T144T	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1376	-			144					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.432G>A	CCDS12669.1																																																																																				0.672	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		8	127	0	0	0	1	0	8	127				
RPGRIP1	57096	broad.mit.edu	37	14	21798483	21798483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:21798483G>A	ENST00000400017.2	+	19	3175	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E716K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E1021K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E385K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E418K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E1059K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1059					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGCACGAGGAAGAGGAAAT	0.368																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(3175-3177)Gaa>Aaa		retinitis pigmentosa GTPase regulator interacting protein 1							135.0	132.0	133.0					14																	21798483		1878	4113	5991	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21798483G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3175G>A	14.37:g.21798483G>A	ENSP00000382895:p.Glu1059Lys					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E1059K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E1021K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E385K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E716K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E418K	p.E1059K			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	19	3175	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	1059			Interaction with RPGR.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.3175G>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535445	0.27475	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.35	2.47	0.30058	.	0.713491	0.13395	N	0.391080	T	0.68467	0.3004	L	0.60455	1.87	0.19575	N	0.999965	B;B;B;P;B;B	0.35011	0.0;0.002;0.0;0.48;0.0;0.163	B;B;B;B;B;B	0.28465	0.003;0.009;0.001;0.09;0.003;0.014	T	0.57093	-0.7870	10	0.41790	T	0.15	-3.8025	7.1991	0.25871	0.2114:0.0:0.7886:0.0	.	442;418;534;385;675;1059	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	K	716;1021;1059;1059;385;534;418	ENSP00000450445:E716K;ENSP00000451219:E1021K;ENSP00000382895:E1059K;ENSP00000206660:E1059K;ENSP00000372391:E385K;ENSP00000451262:E534K;ENSP00000309721:E418K	ENSP00000206660:E1059K	E	+	1	0	RPGRIP1	20868323	0.425000	0.25498	0.314000	0.25224	0.061000	0.15899	0.397000	0.20883	0.563000	0.29222	0.579000	0.79373	GAA		0.368	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		10	94	0	0	0	1	0	10	94				
LRRC36	55282	broad.mit.edu	37	16	67412491	67412491	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:67412491G>A	ENST00000329956.6	+	12	1825		c.e12-1		LRRC36_ENST00000290940.7_Splice_Site|LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000541146.1_Splice_Site	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36											endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTAATCTAAAGGAAAGTTTGA	0.423																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.e12-1		leucine rich repeat containing 36							77.0	78.0	77.0					16																	67412491		2198	4300	6498	SO:0001630	splice_region_variant	55282							g.chr16:67412491G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1807-1G>A	16.37:g.67412491G>A						LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000541146.1_Splice_Site|LRRC36_ENST00000290940.7_Splice_Site		NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	12	1825	+		Ovarian(137;0.192)						A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Splice_Site	SNP	ENST00000329956.6	37		CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994483	0.54041	.	.	ENSG00000159708	ENST00000329956;ENST00000541146;ENST00000290940;ENST00000435835	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4393	0.75171	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC36	65969992	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.489000	0.60309	2.713000	0.92767	0.655000	0.94253	.		0.423	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	Intron	7	107	0	0	0	1	0	7	107				
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:158254059G>A	ENST00000264426.9	+	7	1250	c.971G>A	c.(970-972)aGg>aAg	p.R324K	GRIA2_ENST00000393815.2_Missense_Mutation_p.R277K|GRIA2_ENST00000296526.7_Missense_Mutation_p.R324K|GRIA2_ENST00000507898.1_Missense_Mutation_p.R277K|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277K	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCTCCCGAAGGGGGAATGCA	0.483																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(970-972)aGg>aAg		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						68.0	75.0	73.0					4																	158254059		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254059G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.971G>A	4.37:g.158254059G>A	ENSP00000264426:p.Arg324Lys					GRIA2_ENST00000507898.1_Missense_Mutation_p.R277K|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277K|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324K|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277K	p.R324K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1296	+	all_hematologic(180;0.24)	Renal(120;0.0458)	324					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.971G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.632013	0.67015	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.64997	1.995	0.58432	D	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.79478	-0.1787	10	0.59425	D	0.04	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	324;324;277	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	K	277;277;324;324;277	ENSP00000426845:R277K;ENSP00000377403:R277K;ENSP00000296526:R324K;ENSP00000264426:R324K;ENSP00000389837:R277K	ENSP00000264426:R324K	R	+	2	0	GRIA2	158473509	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	6.820000	0.75267	2.341000	0.79615	0.557000	0.71058	AGG		0.483	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			13	101	0	0	0	1	0	13	101				
CHRNB3	1142	broad.mit.edu	37	8	42587424	42587424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:42587424C>T	ENST00000289957.2	+	5	1102	c.974C>T	c.(973-975)tCt>tTt	p.S325F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	325					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CACAGATCTTCTTCCACGTAC	0.453																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(973-975)tCt>tTt		cholinergic receptor, nicotinic, beta 3 (neuronal)							308.0	257.0	274.0					8																	42587424		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587424C>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.974C>T	8.37:g.42587424C>T	ENSP00000289957:p.Ser325Phe						p.S325F	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1102	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	325					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.974C>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521335	0.64747	.	.	ENSG00000147432	ENST00000289957	D	0.85861	-2.04	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94255	0.8155	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94564	0.7765	10	0.87932	D	0	.	20.2225	0.98327	0.0:1.0:0.0:0.0	.	325	Q05901	ACHB3_HUMAN	F	325	ENSP00000289957:S325F	ENSP00000289957:S325F	S	+	2	0	CHRNB3	42706581	1.000000	0.71417	0.862000	0.33874	0.162000	0.22319	7.818000	0.86416	2.778000	0.95560	0.650000	0.86243	TCT		0.453	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			9	202	0	0	0	1	0	9	202				
DNAH17	8632	broad.mit.edu	37	17	76455952	76455952	+	Silent	SNP	G	G	A	rs146469560		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:76455952G>A	ENST00000585328.1	-	60	9676	c.9552C>T	c.(9550-9552)atC>atT	p.I3184I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.I3175I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3175	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCCATCATGATCTTGGCCG	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9523-9525)atC>atT		dynein, axonemal, heavy chain 17		G		1,4405	2.1+/-5.4	0,1,2202	140.0	104.0	116.0		9567	2.9	1.0	17	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	DNAH17	NM_173628.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3189/4463	76455952	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455952G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9552C>T	17.37:g.76455952G>A						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.I3184I	p.I3175I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		60	9649	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.9525C>T																																																																																					0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	89	0	0	0	1	0	7	89				
FSTL5	56884	broad.mit.edu	37	4	162402297	162402297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:162402297C>T	ENST00000306100.5	-	13	1919	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	FSTL5_ENST00000427802.2_Missense_Mutation_p.G485R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G494R|FSTL5_ENST00000379164.4_Missense_Mutation_p.G494R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	495						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTTCATCTCCCTCAGCTTTG	0.373																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1483-1485)Gga>Aga		follistatin-like 5							182.0	175.0	178.0					4																	162402297		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162402297C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1483G>A	4.37:g.162402297C>T	ENSP00000305334:p.Gly495Arg					FSTL5_ENST00000379164.4_Missense_Mutation_p.G494R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G485R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G494R	p.G495R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1919	-	all_hematologic(180;0.24)		495					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1483G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518365	0.44763	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73681	-0.77;-0.75;-0.76;-0.75	5.51	3.78	0.43462	.	0.159787	0.64402	D	0.000019	T	0.73148	0.3550	M	0.68952	2.095	0.46356	D	0.999007	P;P;B	0.47191	0.891;0.454;0.28	P;B;B	0.44597	0.454;0.144;0.141	T	0.73509	-0.3960	10	0.66056	D	0.02	.	10.1919	0.43032	0.0:0.7768:0.0:0.2232	.	485;494;495	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	495;494;485;494	ENSP00000305334:G495R;ENSP00000368462:G494R;ENSP00000389270:G485R;ENSP00000440409:G494R	ENSP00000305334:G495R	G	-	1	0	FSTL5	162621747	0.010000	0.17322	0.013000	0.15412	0.991000	0.79684	1.830000	0.39131	0.676000	0.31285	0.650000	0.86243	GGA		0.373	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		20	190	0	0	0	1	0	20	190				
DNAH1	25981	broad.mit.edu	37	3	52400896	52400896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:52400896C>T	ENST00000420323.2	+	36	6019	c.5758C>T	c.(5758-5760)Cat>Tat	p.H1920Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1920	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCTCACCCATGAGTGGTG	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5758-5760)Cat>Tat		dynein, axonemal, heavy chain 1							97.0	102.0	100.0					3																	52400896		2077	4200	6277	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52400896C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5758C>T	3.37:g.52400896C>T	ENSP00000401514:p.His1920Tyr						p.H1920Y	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	36	6019	+			1920			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5758C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975104	0.74360	.	.	ENSG00000114841	ENST00000420323	T	0.39406	1.08	4.44	4.44	0.53790	.	0.000000	0.50627	D	0.000112	T	0.69735	0.3144	M	0.88031	2.925	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.74523	-0.3637	10	0.41790	T	0.15	.	17.2758	0.87114	0.0:1.0:0.0:0.0	.	1920	C9JXH6	.	Y	1920	ENSP00000401514:H1920Y	ENSP00000401514:H1920Y	H	+	1	0	DNAH1	52375936	0.999000	0.42202	0.998000	0.56505	0.921000	0.55340	3.830000	0.55768	2.300000	0.77407	0.561000	0.74099	CAT		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	112	0	0	0	1	0	10	112				
CASP8	841	broad.mit.edu	37	2	202149916	202149916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:202149916C>T	ENST00000432109.2	+	9	1369	c.1180C>T	c.(1180-1182)Ccg>Tcg	p.P394S	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.P453S|CASP8_ENST00000264274.9_Missense_Mutation_p.P310S|CASP8_ENST00000264275.5_Missense_Mutation_p.P411S|CASP8_ENST00000323492.7_Missense_Mutation_p.P379S|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	394					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGATATATCCCGGATGAGGC	0.468										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1357-1359)Ccg>Tcg		caspase 8, apoptosis-related cysteine peptidase							67.0	64.0	65.0					2																	202149916		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149916C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1180C>T	2.37:g.202149916C>T	ENSP00000412523:p.Pro394Ser	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Missense_Mutation_p.P310S|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.P411S|CASP8_ENST00000432109.2_Missense_Mutation_p.P394S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.P379S	p.P453S	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1553	+			394					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1357C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746795	0.69418	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.64	4.73	0.59995	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.052716	0.85682	D	0.000000	D	0.92622	0.7656	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.994;0.974;0.986;1.0	D	0.93765	0.7070	10	0.66056	D	0.02	.	15.7601	0.78073	0.0:0.8642:0.1358:0.0	.	310;453;394;379;411	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	S	379;310;394;411;453;379;173	ENSP00000376091:P379S;ENSP00000264274:P310S;ENSP00000412523:P394S;ENSP00000264275:P411S;ENSP00000351273:P453S;ENSP00000325722:P379S;ENSP00000394434:P173S	ENSP00000264274:P310S	P	+	1	0	CASP8	201858161	1.000000	0.71417	0.970000	0.41538	0.376000	0.30014	4.779000	0.62375	2.655000	0.90218	0.561000	0.74099	CCG		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		6	82	0	0	0	1	0	6	82				
KIAA1210	57481	broad.mit.edu	37	X	118220998	118220998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:118220998C>T	ENST00000402510.2	-	11	4194	c.4195G>A	c.(4195-4197)Gga>Aga	p.G1399R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1399								p.G1223*(1)|p.G1399*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCATCTCTTCCTAGGAACCAA	0.443																																						ENST00000402510.2																			2	Substitution - Nonsense(2)	p.G1223*(1)|p.G1399*(1)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4195-4197)Gga>Aga		KIAA1210							119.0	114.0	115.0					X																	118220998		1862	4095	5957	SO:0001583	missense	57481							g.chrX:118220998C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4195G>A	X.37:g.118220998C>T	ENSP00000384670:p.Gly1399Arg						p.G1399R	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	4194	-			1399					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4195G>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.880|0.880	-0.729099|-0.729099	0.03135|0.03135	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10099|.	2.91|.	4.28|4.28	1.51|1.51	0.23008|0.23008	.|.	.|.	.|.	.|.	.|.	T|T	0.11965|0.11965	0.0291|0.0291	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26430|0.26430	-1.0103|-1.0103	9|5	0.13108|.	T|.	0.6|.	.|.	2.229|2.229	0.03992|0.03992	0.1116:0.193:0.4963:0.1991|0.1116:0.193:0.4963:0.1991	.|.	1399|.	Q9ULL0|.	K1210_HUMAN|.	R|K	1399|805	ENSP00000384670:G1399R|.	ENSP00000384670:G1399R|.	G|R	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118105026|118105026	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.198000|0.198000	0.17217|0.17217	0.186000|0.186000	0.20125|0.20125	-0.293000|-0.293000	0.09583|0.09583	GGA|AGG		0.443	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		11	137	0	0	0	1	0	11	137				
POTEG	404785	broad.mit.edu	37	14	19553512	19553512	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:19553512C>T	ENST00000409832.3	+	1	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(94-96)ttC>ttT		POTE ankyrin domain family, member G							17.0	27.0	24.0					14																	19553512		1459	3103	4562	SO:0001819	synonymous_variant	404785							g.chr14:19553512C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.96C>T	14.37:g.19553512C>T							p.F32F	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	148	+			32					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.96C>T	CCDS32018.1																																																																																				0.587	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		20	427	0	0	0	1	0	20	427				
ZNF556	80032	broad.mit.edu	37	19	2877723	2877723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:2877723G>A	ENST00000307635.2	+	4	854	c.767G>A	c.(766-768)gGg>gAg	p.G256E	ZNF556_ENST00000586426.1_Missense_Mutation_p.G255E	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCCGGAGGGAGACCGTAT	0.537																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(763-765)gGg>gAg		zinc finger protein 556							65.0	59.0	61.0					19																	2877723		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877723G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.767G>A	19.37:g.2877723G>A	ENSP00000302603:p.Gly256Glu					ZNF556_ENST00000307635.2_Missense_Mutation_p.G256E	p.G255E			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	851	+			256					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.764G>A	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	2.620	-0.288776	0.05605	.	.	ENSG00000172000	ENST00000307635	T	0.10573	2.86	2.43	-2.76	0.05896	Zinc finger, C2H2 (1);	.	.	.	.	T	0.01454	0.0047	N	0.00058	-2.35	0.23546	N	0.997447	B	0.13594	0.008	B	0.11329	0.006	T	0.42172	-0.9467	9	0.02654	T	1	.	7.7833	0.29077	0.7979:0.0:0.2021:0.0	.	256	Q9HAH1	ZN556_HUMAN	E	256	ENSP00000302603:G256E	ENSP00000302603:G256E	G	+	2	0	ZNF556	2828723	0.977000	0.34250	0.000000	0.03702	0.001000	0.01503	2.679000	0.46909	-0.878000	0.04007	-0.346000	0.07831	GGG		0.537	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	69	0	0	0	1	0	4	69				
AAAS	8086	broad.mit.edu	37	12	53715146	53715146	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53715146G>A	ENST00000209873.4	-	1	269	c.104C>T	c.(103-105)cCc>cTc	p.P35L	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.P35L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAAGTCGGGGGGCGGGCTCTC	0.647																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(103-105)cCc>cTc		achalasia, adrenocortical insufficiency, alacrimia							66.0	75.0	72.0					12																	53715146		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715146G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.104C>T	12.37:g.53715146G>A	ENSP00000209873:p.Pro35Leu					AAAS_ENST00000394384.3_Missense_Mutation_p.P35L|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	p.P35L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	269	-			35					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.104C>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	9.298	1.052275	0.19827	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.82526	-1.62;-1.57;-0.85	5.26	5.26	0.73747	.	0.327459	0.28047	N	0.016812	D	0.84347	0.5452	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.80393	-0.1401	10	0.17369	T	0.5	-7.925	16.7281	0.85428	0.0:0.0:1.0:0.0	.	35;35	Q5JB47;Q9NRG9	.;AAAS_HUMAN	L	35	ENSP00000209873:P35L;ENSP00000377908:P35L;ENSP00000448020:P35L	ENSP00000209873:P35L	P	-	2	0	AAAS	52001413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.009000	0.57110	2.614000	0.88457	0.563000	0.77884	CCC		0.647	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			8	164	0	0	0	1	0	8	164				
ZFP42	132625	broad.mit.edu	37	4	188924697	188924697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:188924697C>T	ENST00000326866.4	+	4	1144	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R246W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	246					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCCGTTTCGGTGCACTTT	0.522																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(736-738)Cgg>Tgg		ZFP42 zinc finger protein							85.0	89.0	88.0					4																	188924697		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924697C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.736C>T	4.37:g.188924697C>T	ENSP00000317686:p.Arg246Trp					ZFP42_ENST00000509524.1_Missense_Mutation_p.R246W	p.R246W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1144	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	246					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.736C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112030	0.56398	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.96334	-3.98;-3.98	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.066805	0.64402	D	0.000008	D	0.95956	0.8683	M	0.65677	2.01	0.26849	N	0.968194	P	0.50710	0.938	P	0.47376	0.545	D	0.92288	0.5839	10	0.87932	D	0	.	15.272	0.73708	0.0:1.0:0.0:0.0	rs34526906	246	Q96MM3	ZFP42_HUMAN	W	246	ENSP00000317686:R246W;ENSP00000424662:R246W	ENSP00000317686:R246W	R	+	1	2	ZFP42	189161691	0.998000	0.40836	0.438000	0.26821	0.012000	0.07955	7.447000	0.80620	2.729000	0.93468	0.655000	0.94253	CGG		0.522	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		8	71	0	0	0	1	0	8	71				
CUBN	8029	broad.mit.edu	37	10	16930543	16930543	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:16930543G>A	ENST00000377833.4	-	56	8843	c.8778C>T	c.(8776-8778)ggC>ggT	p.G2926G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2926	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCTGAAGGGCCAGTGAAAT	0.383																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8776-8778)ggC>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						203.0	184.0	190.0					10																	16930543		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16930543G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8778C>T	10.37:g.16930543G>A							p.G2926G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			56	8843	-			2926			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8778C>T	CCDS7113.1																																																																																				0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	159	0	0	0	1	0	7	159				
MKRN3	7681	broad.mit.edu	37	15	23811287	23811287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:23811287G>A	ENST00000314520.3	+	1	834	c.358G>A	c.(358-360)Gac>Aac	p.D120N	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	120					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTATTCGCACGACCTTTCTGG	0.602																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(358-360)Gac>Aac		makorin ring finger protein 3							57.0	58.0	58.0					15																	23811287		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811287G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.358G>A	15.37:g.23811287G>A	ENSP00000313881:p.Asp120Asn					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.D120N	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	834	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	120						Missense_Mutation	SNP	ENST00000314520.3	37	c.358G>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888142	0.91814	.	.	ENSG00000179455	ENST00000314520	T	0.43688	0.94	3.94	3.03	0.35002	Zinc finger, CCCH-type (2);	0.065607	0.64402	D	0.000017	T	0.33556	0.0867	M	0.61703	1.905	0.80722	D	1	P	0.41546	0.754	B	0.33890	0.172	T	0.22941	-1.0202	10	0.54805	T	0.06	.	7.7365	0.28817	0.1129:0.0:0.8871:0.0	.	120	Q13064	MKRN3_HUMAN	N	120	ENSP00000313881:D120N	ENSP00000313881:D120N	D	+	1	0	MKRN3	21362380	1.000000	0.71417	0.044000	0.18714	0.377000	0.30045	5.588000	0.67517	1.254000	0.44035	0.563000	0.77884	GAC		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	95	0	0	0	1	0	7	95				
FAM73A	374986	broad.mit.edu	37	1	78324662	78324662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:78324662G>A	ENST00000370791.3	+	9	1068	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM73A_ENST00000443751.2_Missense_Mutation_p.E308K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	346						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CTACAGCCTGGAGTCCCTTTG	0.448																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1036-1038)Gag>Aag		family with sequence similarity 73, member A							134.0	108.0	117.0					1																	78324662		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78324662G>A		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1036G>A	1.37:g.78324662G>A	ENSP00000359827:p.Glu346Lys					FAM73A_ENST00000443751.2_Missense_Mutation_p.E308K	p.E346K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	9	1068	+			346					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1036G>A	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	8.655	0.899067	0.17686	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.21932	1.98;1.98	5.45	5.45	0.79879	.	0.382909	0.28214	N	0.016164	T	0.09862	0.0242	L	0.34521	1.04	0.45930	D	0.998766	B;B;B;B	0.30281	0.275;0.166;0.275;0.166	B;B;B;B	0.31946	0.059;0.138;0.128;0.138	T	0.11641	-1.0579	10	0.15952	T	0.53	-10.6743	19.2587	0.93959	0.0:0.0:1.0:0.0	.	308;346;346;346	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	K	346;308	ENSP00000359827:E346K;ENSP00000393675:E308K	ENSP00000359827:E346K	E	+	1	0	FAM73A	78097250	1.000000	0.71417	0.993000	0.49108	0.108000	0.19459	6.571000	0.74000	2.557000	0.86248	0.655000	0.94253	GAG		0.448	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		5	77	0	0	0	1	0	5	77				
LARP1	23367	broad.mit.edu	37	5	154173242	154173242	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154173242C>T	ENST00000336314.4	+	5	620	c.596C>T	c.(595-597)cCg>cTg	p.P199L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCGCCCACCGGAGCCTAGA	0.552																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(595-597)cCg>cTg		La ribonucleoprotein domain family, member 1							124.0	135.0	131.0					5																	154173242		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154173242C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.596C>T	5.37:g.154173242C>T	ENSP00000336721:p.Pro199Leu						p.P199L	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	620	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	276					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.596C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	1.290	-0.607945	0.03717	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163	T;T;T;T	0.46451	1.94;1.49;1.56;0.87	5.91	2.56	0.30785	.	0.319538	0.36101	N	0.002784	T	0.21267	0.0512	N	0.14661	0.345	0.39625	D	0.970081	B;P	0.36837	0.027;0.571	B;B	0.24155	0.007;0.051	T	0.06006	-1.0851	10	0.28530	T	0.3	-5.0846	13.7868	0.63115	0.629:0.371:0.0:0.0	.	276;199	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	L	199;276;71;71;51	ENSP00000336721:P199L;ENSP00000428589:P276L;ENSP00000429904:P71L;ENSP00000430438:P51L	ENSP00000336721:P199L	P	+	2	0	LARP1	154153435	0.427000	0.25514	0.309000	0.25155	0.168000	0.22595	2.983000	0.49345	0.672000	0.31204	-0.262000	0.10625	CCG		0.552	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		12	320	0	0	0	1	0	12	320				
C1orf216	127703	broad.mit.edu	37	1	36181693	36181693	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:36181693G>A	ENST00000270815.4	-	2	1000	c.230C>T	c.(229-231)cCt>cTt	p.P77L	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	77										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCTTCCTCAGGGGATCCAGG	0.632											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270815.4																			0				kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(229-231)cCt>cTt		chromosome 1 open reading frame 216							55.0	58.0	57.0					1																	36181693		2203	4300	6503	SO:0001583	missense	127703							g.chr1:36181693G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.230C>T	1.37:g.36181693G>A	ENSP00000425166:p.Pro77Leu		OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.P77L	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN			2	1000	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	77					D3DPS1|Q8N8N6	Missense_Mutation	SNP	ENST00000270815.4	37	c.230C>T	CCDS395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.518|6.518	0.463756|0.463756	0.12402|0.12402	.|.	.|.	ENSG00000142686|ENSG00000142686	ENST00000422623|ENST00000270815	.|.	.|.	.|.	5.17|5.17	4.23|4.23	0.50019|0.50019	.|.	.|0.296508	.|0.29100	.|N	.|0.013148	.|T	.|0.43500	.|0.1250	L|L	0.40543|0.40543	1.245|1.245	0.20307|0.20307	N|N	0.999916|0.999916	.|B	.|0.22414	.|0.069	.|B	.|0.30029	.|0.11	.|T	.|0.47032	.|-0.9148	.|9	.|0.87932	.|D	.|0	.|-13.0317	13.9964|13.9964	0.64405|0.64405	0.0:0.0:0.8476:0.1524|0.0:0.0:0.8476:0.1524	.|.	.|77	.|Q8TAB5	.|CA216_HUMAN	.|L	-1|77	.|.	.|ENSP00000425166:P77L	.|P	-|-	.|2	.|0	C1orf216|C1orf216	35954280|35954280	0.076000|0.076000	0.21285|0.21285	0.003000|0.003000	0.11579|0.11579	0.022000|0.022000	0.10575|0.10575	0.938000|0.938000	0.28965|0.28965	1.132000|1.132000	0.42129|0.42129	0.561000|0.561000	0.74099|0.74099	.|CCT		0.632	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		6	113	0	0	0	1	0	6	113				
RTN2	6253	broad.mit.edu	37	19	45997427	45997427	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:45997427G>A	ENST00000245923.4	-	4	1046	c.811C>T	c.(811-813)Cta>Tta	p.L271L	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000344680.4_Silent_p.L271L|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	271					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGCTTACCTAGAAGGCGTGGC	0.512																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(811-813)Cta>Tta		reticulon 2							162.0	152.0	155.0					19																	45997427		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45997427G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.811C>T	19.37:g.45997427G>A						PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Silent_p.L271L|RTN2_ENST00000590526.1_5'UTR	p.L271L	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	1046	-		Ovarian(192;0.051)|all_neural(266;0.112)	271					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.811C>T	CCDS12665.1																																																																																				0.512	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		15	237	0	0	0	1	0	15	237				
SEMG2	6407	broad.mit.edu	37	20	43850781	43850781	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:43850781G>A	ENST00000372769.3	+	2	598	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATGGGTTCATGGACTAAGTAA	0.423																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(508-510)Gga>Aga		semenogelin II							95.0	85.0	88.0					20																	43850781		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850781G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.508G>A	20.37:g.43850781G>A	ENSP00000361855:p.Gly170Arg						p.G170R	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	598	+		Myeloproliferative disorder(115;0.0122)	170			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.508G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400130	0.25291	.	.	ENSG00000124157	ENST00000372769	T	0.19250	2.16	0.559	0.559	0.17272	.	.	.	.	.	T	0.41604	0.1166	M	0.76170	2.325	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	0.11616	-1.0580	8	0.54805	T	0.06	.	.	.	.	.	170;170;170	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	R	170	ENSP00000361855:G170R	ENSP00000361855:G170R	G	+	1	0	SEMG2	43284195	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.504000	0.22626	0.556000	0.29098	0.561000	0.74099	GGA		0.423	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		5	108	0	0	0	1	0	5	108				
STOX1	219736	broad.mit.edu	37	10	70641764	70641764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:70641764C>T	ENST00000298596.6	+	2	444	c.361C>T	c.(361-363)Cct>Tct	p.P121S	STOX1_ENST00000399165.4_Missense_Mutation_p.P121S|STOX1_ENST00000399162.2_Missense_Mutation_p.P121S|STOX1_ENST00000399169.4_Missense_Mutation_p.P121S|STOX1_ENST00000421961.2_Missense_Mutation_p.P11S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCAGTTCGTACCTTTGGGTGA	0.378																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(361-363)Cct>Tct		storkhead box 1							174.0	159.0	164.0					10																	70641764		1861	4096	5957	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641764C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.361C>T	10.37:g.70641764C>T	ENSP00000298596:p.Pro121Ser					STOX1_ENST00000399165.4_Missense_Mutation_p.P121S|STOX1_ENST00000399169.4_Missense_Mutation_p.P121S|STOX1_ENST00000399162.2_Missense_Mutation_p.P121S|STOX1_ENST00000421961.2_Missense_Mutation_p.P11S	p.P121S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			2	444	+			121					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.361C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336635	0.81801	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.000000	0.64402	U	0.000001	D	0.90960	0.7158	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91507	0.5224	10	0.87932	D	0	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	121;121;121	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	S	121;121;121;121;11	ENSP00000382121:P121S;ENSP00000298596:P121S;ENSP00000382118:P121S;ENSP00000382115:P121S;ENSP00000394509:P11S	ENSP00000298596:P121S	P	+	1	0	STOX1	70311770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.867000	0.63013	2.779000	0.95612	0.591000	0.81541	CCT		0.378	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		9	157	0	0	0	1	0	9	157				
ATP2C2	9914	broad.mit.edu	37	16	84432170	84432170	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:84432170G>A	ENST00000262429.4	+	2	254	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ATP2C2_ENST00000416219.2_Silent_p.K55K	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	55					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGCCCCCCAAGGAAGCGTGCA	0.443																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(163-165)aaG>aaA		ATPase, Ca++ transporting, type 2C, member 2							53.0	55.0	54.0					16																	84432170		1906	4130	6036	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84432170G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.165G>A	16.37:g.84432170G>A						ATP2C2_ENST00000262429.4_Silent_p.K55K	p.K55K			O75185	AT2C2_HUMAN			2	254	+			55					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.165G>A	CCDS42207.1																																																																																				0.443	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		4	41	0	0	0	1	0	4	41				
BAI3	577	broad.mit.edu	37	6	70071204	70071204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:70071204C>T	ENST00000370598.1	+	29	4860	c.4039C>T	c.(4039-4041)Cct>Tct	p.P1347S	BAI3_ENST00000238918.8_Missense_Mutation_p.P553S|BAI3_ENST00000546190.1_Missense_Mutation_p.P311S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4039-4041)Cct>Tct		brain-specific angiogenesis inhibitor 3							88.0	87.0	87.0					6																	70071204		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071204C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4039C>T	6.37:g.70071204C>T	ENSP00000359630:p.Pro1347Ser					BAI3_ENST00000546190.1_Missense_Mutation_p.P311S|BAI3_ENST00000238918.8_Missense_Mutation_p.P553S	p.P1347S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4860	+		all_lung(197;0.212)	1347					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4039C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081745	0.55861	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.55990	1.75	0.58432	D	0.999997	D;B	0.63880	0.993;0.0	D;B	0.72982	0.979;0.001	T	0.00787	-1.1566	10	0.41790	T	0.15	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	553;1347	B7Z356;O60242	.;BAI3_HUMAN	S	1347;553;311	ENSP00000359630:P1347S;ENSP00000238918:P553S;ENSP00000441821:P311S	ENSP00000238918:P553S	P	+	1	0	BAI3	70127925	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	5.697000	0.68295	2.766000	0.95052	0.650000	0.86243	CCT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			6	113	0	0	0	1	0	6	113				
FYB	2533	broad.mit.edu	37	5	39202854	39202854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:39202854G>A	ENST00000351578.6	-	2	399	c.209C>T	c.(208-210)tCt>tTt	p.S70F	FYB_ENST00000515010.1_Missense_Mutation_p.S70F|FYB_ENST00000505428.1_Missense_Mutation_p.S70F|FYB_ENST00000512982.1_Missense_Mutation_p.S70F|FYB_ENST00000540520.1_Missense_Mutation_p.S80F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	70					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTTTCCTCAGAAGAAGGTTT	0.537																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(208-210)tCt>tTt		FYN binding protein							48.0	46.0	47.0					5																	39202854		1874	4118	5992	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202854G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.209C>T	5.37:g.39202854G>A	ENSP00000316460:p.Ser70Phe					FYB_ENST00000540520.1_Missense_Mutation_p.S80F|FYB_ENST00000512982.1_Missense_Mutation_p.S70F|FYB_ENST00000505428.1_Missense_Mutation_p.S70F|FYB_ENST00000515010.1_Missense_Mutation_p.S70F	p.S70F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	399	-	all_lung(31;0.000343)		70					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.209C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	2.254	-0.370971	0.05034	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188;ENST00000512138	T;T;T;T;T;T;T	0.42900	1.97;1.97;1.97;1.97;1.97;0.96;0.97	5.67	-0.0104	0.13997	.	1.332010	0.04353	N	0.356044	T	0.25457	0.0619	L	0.31294	0.92	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.10086	-1.0645	10	0.09843	T	0.71	0.5884	2.0511	0.03571	0.4281:0.1209:0.3223:0.1288	.	80;70	B4DLN2;O15117	.;FYB_HUMAN	F	70;70;70;70;80;70;70;70	ENSP00000316460:S70F;ENSP00000426346:S70F;ENSP00000425845:S70F;ENSP00000427114:S70F;ENSP00000442840:S80F;ENSP00000426597:S70F;ENSP00000424919:S70F	ENSP00000316460:S70F	S	-	2	0	FYB	39238611	0.014000	0.17966	0.048000	0.18961	0.981000	0.71138	0.057000	0.14279	0.055000	0.16094	0.655000	0.94253	TCT		0.537	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		9	43	0	0	0	1	0	9	43				
OR51B6	390058	broad.mit.edu	37	11	5373561	5373561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5373561G>A	ENST00000380219.1	+	1	824	c.824G>A	c.(823-825)aGc>aAc	p.S275N	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	275			S -> R (in dbSNP:rs5024042). {ECO:0000269|PubMed:11121057}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACAATGAGCTACATCCAC	0.393																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(823-825)aGc>aAc		olfactory receptor, family 51, subfamily B, member 6							201.0	183.0	189.0					11																	5373561		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373561G>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.824G>A	11.37:g.5373561G>A	ENSP00000369568:p.Ser275Asn					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.S275N	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	824	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	275		S -> R (in dbSNP:rs5024042).				Missense_Mutation	SNP	ENST00000380219.1	37	c.824G>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085668	0.55861	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00267	8.38	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.091548	0.48286	D	0.000198	T	0.00440	0.0014	L	0.58810	1.83	0.24997	N	0.991495	D	0.89917	1.0	D	0.97110	1.0	T	0.56384	-0.7988	10	0.87932	D	0	.	12.2065	0.54355	0.0:0.2728:0.7272:0.0	.	275	Q9H340	O51B6_HUMAN	N	274;275	ENSP00000369568:S275N	ENSP00000369568:S275N	S	+	2	0	OR51B6	5330137	0.066000	0.20996	0.999000	0.59377	0.867000	0.49689	0.387000	0.20718	2.660000	0.90430	0.650000	0.86243	AGC		0.393	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		9	178	0	0	0	1	0	9	178				
EIF4ENIF1	56478	broad.mit.edu	37	22	31864189	31864189	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:31864189G>A	ENST00000397525.1	-	4	493	c.270C>T	c.(268-270)gaC>gaT	p.D90D	EIF4ENIF1_ENST00000330125.5_Silent_p.D90D|EIF4ENIF1_ENST00000344710.5_Silent_p.D90D|EIF4ENIF1_ENST00000397523.1_Silent_p.D90D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	90						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGAAGGCCGGTCTGTATCCA	0.532																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(268-270)gaC>gaT		eukaryotic translation initiation factor 4E nuclear import factor 1							115.0	103.0	107.0					22																	31864189		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31864189G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.270C>T	22.37:g.31864189G>A						EIF4ENIF1_ENST00000344710.5_Silent_p.D90D|EIF4ENIF1_ENST00000397523.1_Silent_p.D90D|EIF4ENIF1_ENST00000330125.5_Silent_p.D90D	p.D90D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			4	493	-			90					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.270C>T	CCDS13898.1																																																																																				0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		7	112	0	0	0	1	0	7	112				
ZNF384	171017	broad.mit.edu	37	12	6777002	6777002	+	Missense_Mutation	SNP	G	G	A	rs145358232		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6777002G>A	ENST00000396801.3	-	11	1819	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ZNF384_ENST00000355772.4_Missense_Mutation_p.P422S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461S|ZNF384_ENST00000396795.1_Missense_Mutation_p.P477S|RP4-761J14.8_ENST00000586338.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	538					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGAGGGTTGGGATTGCTGTCC	0.622			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1429-1431)Ccc>Tcc		zinc finger protein 384							93.0	93.0	93.0					12																	6777002		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6777002G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1612C>T	12.37:g.6777002G>A	ENSP00000380019:p.Pro538Ser					RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461S	p.P477S			Q8TF68	ZN384_HUMAN			9	1926	-			538			Ala-rich.|Gln-rich.		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1429C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974463	0.53720	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.08102	3.21;3.21;3.13;3.13;3.23;3.21	5.62	4.72	0.59763	.	0.316936	0.33180	N	0.005197	T	0.06280	0.0162	N	0.19112	0.55	0.33837	D	0.631012	B;B;B;B	0.13145	0.001;0.007;0.007;0.007	B;B;B;B	0.10450	0.001;0.005;0.003;0.005	T	0.12344	-1.0551	10	0.39692	T	0.17	-9.8923	10.8218	0.46610	0.0705:0.1325:0.7971:0.0	.	538;422;461;477	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	S	461;477;538;538;422;477	ENSP00000321650:P461S;ENSP00000380013:P477S;ENSP00000380019:P538S;ENSP00000354592:P538S;ENSP00000348018:P422S;ENSP00000380017:P477S	ENSP00000321650:P461S	P	-	1	0	ZNF384	6647263	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.819000	0.62664	1.358000	0.45922	-0.274000	0.10170	CCC		0.622	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			11	194	0	0	0	1	0	11	194				
MYCL	4610	broad.mit.edu	37	1	40363483	40363483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:40363483G>A	ENST00000372816.2	-	2	1103	c.656C>T	c.(655-657)cCt>cTt	p.P219L	MYCL_ENST00000397332.2_Missense_Mutation_p.P249L|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	219						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTTTCTGGAGGAAAACGGGC	0.547																																						ENST00000397332.2																			0											c.(745-747)cCt>cTt		v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog							108.0	114.0	112.0					1																	40363483		2203	4300	6503	SO:0001583	missense	4610							g.chr1:40363483G>A		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.656C>T	1.37:g.40363483G>A	ENSP00000361903:p.Pro219Leu					MYCL_ENST00000372816.2_Missense_Mutation_p.P219L|RP1-118J21.5_ENST00000418255.1_RNA	p.P249L	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2					3	870	-								A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	c.746C>T	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952376	0.73787	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	T;T	0.81330	-1.28;-1.48	6.06	6.06	0.98353	Transcription regulator Myc, N-terminal (1);	0.053759	0.85682	D	0.000000	D	0.91304	0.7258	M	0.85710	2.77	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.91422	0.5159	10	0.87932	D	0	-15.685	20.6208	0.99490	0.0:0.0:1.0:0.0	.	219	P12524	MYCL1_HUMAN	L	249;219	ENSP00000380494:P249L;ENSP00000361903:P219L	ENSP00000361903:P219L	P	-	2	0	MYCL1	40136070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.467000	0.90390	2.882000	0.98803	0.655000	0.94253	CCT		0.547	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		9	141	0	0	0	1	0	9	141				
OR8K1	390157	broad.mit.edu	37	11	56113937	56113937	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56113937C>T	ENST00000279783.2	+	1	517	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACGTGATCATCATGGCAGAGA	0.388										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(421-423)atC>atT		olfactory receptor, family 8, subfamily K, member 1							213.0	212.0	212.0					11																	56113937		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113937C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.423C>T	11.37:g.56113937C>T		HNSCC(65;0.19)					p.I141I	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	517	+	Esophageal squamous(21;0.00448)		141					B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.423C>T	CCDS31528.1																																																																																				0.388	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		12	289	0	0	0	1	0	12	289				
TUSC3	7991	broad.mit.edu	37	8	15601076	15601076	+	Silent	SNP	C	C	T	rs372888825		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:15601076C>T	ENST00000503731.1	+	8	1040	c.892C>T	c.(892-894)Cta>Tta	p.L298L	TUSC3_ENST00000506802.1_Silent_p.L298L|TUSC3_ENST00000382020.4_Silent_p.L298L	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	298					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATGGTTCTTCTAAATGAAGC	0.383																																						ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(892-894)Cta>Tta		tumor suppressor candidate 3		C	,	1,4405		0,1,2202	191.0	208.0	202.0		892,892	4.7	1.0	8		202	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TUSC3	NM_006765.3,NM_178234.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	298/349,298/348	15601076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601076C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.892C>T	8.37:g.15601076C>T						TUSC3_ENST00000506802.1_Silent_p.L298L|TUSC3_ENST00000503731.1_Silent_p.L298L	p.L298L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1100	+			298					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	c.892C>T	CCDS5994.1																																																																																				0.383	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		10	188	0	0	0	1	0	10	188				
IL11RA	3590	broad.mit.edu	37	9	34657100	34657100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:34657100C>T	ENST00000555003.1	+	5	1756	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	IL11RA_ENST00000441545.2_Missense_Mutation_p.P134S|GALT_ENST00000556278.1_Missense_Mutation_p.P278S|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000318041.9_Missense_Mutation_p.P134S|IL11RA_ENST00000378817.4_Missense_Mutation_p.P134S|IL11RA_ENST00000602473.1_Missense_Mutation_p.P134S			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	134	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CACTTGGAGTCCCAGCCAGAT	0.567																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(400-402)Ccc>Tcc		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						118.0	104.0	109.0					9																	34657100		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34657100C>T	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.400C>T	9.37:g.34657100C>T	ENSP00000450565:p.Pro134Ser					IL11RA_ENST00000602473.1_Missense_Mutation_p.P134S|IL11RA_ENST00000441545.2_Missense_Mutation_p.P134S|GALT_ENST00000556278.1_Missense_Mutation_p.278_278insS|IL11RA_ENST00000318041.9_Missense_Mutation_p.P134S|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.P134S	p.P134S			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	5	1756	+	all_epithelial(49;0.102)		134			Fibronectin type-III 1.		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.400C>T	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322242	0.23994	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000553620;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.22	3.36	0.38483	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.476794	0.24476	N	0.038193	T	0.35189	0.0923	M	0.64404	1.975	0.30772	N	0.742968	B	0.19583	0.037	B	0.16289	0.015	T	0.33059	-0.9883	10	0.17832	T	0.49	-0.819	8.1929	0.31379	0.0:0.8127:0.0:0.1873	.	134	Q14626	I11RA_HUMAN	S	278;134;134;57;134;134;134;134;134	ENSP00000451792:P278S;ENSP00000450565:P134S;ENSP00000394391:P134S;ENSP00000452207:P57S;ENSP00000450543:P134S;ENSP00000368094:P134S;ENSP00000326500:P134S;ENSP00000451447:P134S;ENSP00000450640:P134S	ENSP00000326500:P134S	P	+	1	0	RP11-195F19.29;IL11RA	34647100	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.248000	0.32827	0.567000	0.29293	0.655000	0.94253	CCC		0.567	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		10	96	0	0	0	1	0	10	96				
PLEKHN1	84069	broad.mit.edu	37	1	907470	907470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:907470C>T	ENST00000379409.2	+	8	991	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R281C|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R269C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	321	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCTCCCACTCCGTGCCGTCCA	0.667																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(961-963)Cgt>Tgt		pleckstrin homology domain containing, family N member 1							67.0	68.0	68.0					1																	907470		2203	4300	6503	SO:0001583	missense	84069							g.chr1:907470C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.961C>T	1.37:g.907470C>T	ENSP00000368719:p.Arg321Cys					PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R269C|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R281C	p.R321C			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	8	991	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	321			PH 2.		Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.961C>T		.	.	.	.	.	.	.	.	.	.	C	10.92	1.487003	0.26686	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.43688	0.94;0.94;0.94	4.68	2.35	0.29111	Pleckstrin homology domain (1);	0.407238	0.25233	N	0.032142	T	0.39253	0.1071	L	0.36672	1.1	0.09310	N	1	D;D;D	0.67145	0.994;0.99;0.996	P;P;P	0.56700	0.804;0.627;0.729	T	0.27088	-1.0084	10	0.62326	D	0.03	.	1.6508	0.02771	0.5534:0.1858:0.0973:0.1636	.	281;321;269	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	C	269;281;321	ENSP00000368720:R269C;ENSP00000368717:R281C;ENSP00000368719:R321C	ENSP00000368717:R281C	R	+	1	0	PLEKHN1	897333	0.004000	0.15560	0.206000	0.23566	0.047000	0.14425	0.412000	0.21131	0.194000	0.20326	0.306000	0.20318	CGT		0.667	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	83	0	0	0	1	0	5	83				
OR2T1	26696	broad.mit.edu	37	1	248569860	248569860	+	Missense_Mutation	SNP	C	C	T	rs140525966		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248569860C>T	ENST00000366474.1	+	1	565	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	189						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(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCCGCCGGGTCTGTTG	0.547													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19895	0.0		0.0	False		,,,				2504	0.0					ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(565-567)Cgg>Tgg		olfactory receptor, family 2, subfamily T, member 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	98.0	98.0		565	-3.0	0.0	1	dbSNP_134	98	0,8600		0,0,4300	no	missense	OR2T1	NM_030904.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	189/370	248569860	1,13005	2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569860C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.565C>T	1.37:g.248569860C>T	ENSP00000355430:p.Arg189Trp						p.R189W	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	565	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		189					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.565C>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	12.38	1.919833	0.33908	2.27E-4	0.0	ENSG00000175143	ENST00000366474	T	0.00949	5.51	4.84	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	0.497022	0.14278	U	0.329690	T	0.01156	0.0038	M	0.69248	2.105	0.09310	N	1	B	0.22746	0.074	B	0.24269	0.052	T	0.42816	-0.9429	10	0.87932	D	0	.	3.368	0.07211	0.5735:0.1704:0.0966:0.1594	.	189	O43869	OR2T1_HUMAN	W	189	ENSP00000355430:R189W	ENSP00000355430:R189W	R	+	1	2	OR2T1	246636483	0.000000	0.05858	0.004000	0.12327	0.998000	0.95712	-0.077000	0.11394	-0.311000	0.08754	0.650000	0.86243	CGG		0.547	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			7	114	0	0	0	1	0	7	114				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; 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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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)	ENST00000269305.4		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"""		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	p.R342*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	43	0	0	0	1	0	8	43				
FASN	2194	broad.mit.edu	37	17	80037284	80037284	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:80037284C>T	ENST00000306749.2	-	42	7565	c.7347G>A	c.(7345-7347)aaG>aaA	p.K2449K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2449	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGCCACCCGTCTTGGCGCGCA	0.652																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(7345-7347)aaG>aaA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						84.0	71.0	75.0					17																	80037284		2203	4300	6503	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037284C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7347G>A	17.37:g.80037284C>T						FASN_ENST00000579758.1_5'UTR	p.K2449K	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		42	7565	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2449			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.7347G>A	CCDS11801.1																																																																																				0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	75	0	0	0	1	0	5	75				
BMP8A	353500	broad.mit.edu	37	1	39988096	39988096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:39988096G>A	ENST00000331593.5	+	5	1236	c.890G>A	c.(889-891)gGc>gAc	p.G297D	RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	297					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTCCCACGGCCGGCAGGTC	0.592																																						ENST00000331593.5																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(889-891)gGc>gAc		bone morphogenetic protein 8a							73.0	61.0	65.0					1																	39988096		2203	4298	6501	SO:0001583	missense	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988096G>A	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.890G>A	1.37:g.39988096G>A	ENSP00000327440:p.Gly297Asp					RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	p.G297D	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	1236	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	297					Q5T3A5	Missense_Mutation	SNP	ENST00000331593.5	37	c.890G>A	CCDS437.1	.	.	.	.	.	.	.	.	.	.	g	8.965	0.971545	0.18736	.	.	ENSG00000183682	ENST00000331593	D	0.88664	-2.41	4.4	4.4	0.53042	Transforming growth factor-beta, C-terminal (1);	0.244968	0.37857	U	0.001901	D	0.84142	0.5407	L	0.44542	1.39	0.45097	D	0.998113	P	0.43826	0.818	B	0.38020	0.263	D	0.84166	0.0431	9	.	.	.	.	16.1025	0.81194	0.0:0.0:1.0:0.0	.	297	Q7Z5Y6	BMP8A_HUMAN	D	297	ENSP00000327440:G297D	.	G	+	2	0	BMP8A	39760683	1.000000	0.71417	0.467000	0.27180	0.099000	0.18886	4.715000	0.61909	2.151000	0.67156	0.484000	0.47621	GGC		0.592	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		7	87	0	0	0	1	0	7	87				
INTS10	55174	broad.mit.edu	37	8	19709309	19709309	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:19709309T>A	ENST00000397977.3	+	17	2524	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	709					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTTCAGACTCTGACCTGAGTG	0.542																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(2125-2127)cTg>cAg		integrator complex subunit 10							56.0	59.0	58.0					8																	19709309		2010	4175	6185	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19709309T>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2126T>A	8.37:g.19709309T>A	ENSP00000381064:p.Leu709Gln						p.L709Q	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	17	2524	+			709					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.2126T>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.984433|3.984433	0.74474|0.74474	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000397977|ENST00000523772	.|.	.|.	.|.	5.71|5.71	4.54|4.54	0.55810|0.55810	.|.	0.069271|.	0.56097|.	D|.	0.000023|.	T|.	0.52917|.	0.1764|.	L|L	0.32530|0.32530	0.975|0.975	0.51482|0.51482	D|D	0.999928|0.999928	D|.	0.58268|.	0.982|.	P|.	0.58454|.	0.839|.	T|.	0.45440|.	-0.9261|.	8|.	.|.	.|.	.|.	-14.35|-14.35	11.9128|11.9128	0.52749|0.52749	0.0:0.0:0.1461:0.8539|0.0:0.0:0.1461:0.8539	.|.	709|.	Q9NVR2|.	INT10_HUMAN|.	Q|R	709|172	.|.	.|.	L|X	+|+	2|1	0|0	INTS10|INTS10	19753589|19753589	0.998000|0.998000	0.40836|0.40836	0.126000|0.126000	0.21872|0.21872	0.874000|0.874000	0.50279|0.50279	7.635000|7.635000	0.83286|0.83286	0.960000|0.960000	0.38005|0.38005	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.542	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		6	62	0	0	0	1	0	6	62				
NSD1	64324	broad.mit.edu	37	5	176665274	176665274	+	Nonsense_Mutation	SNP	C	C	T	rs121908070		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:176665274C>T	ENST00000439151.2	+	7	4003	c.3958C>T	c.(3958-3960)Cga>Tga	p.R1320*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1217*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1320					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTCTAGCCCGAGGTCGATC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM030918	NSD1	M	rs121908070	c.(3958-3960)Cga>Tga		nuclear receptor binding SET domain protein 1							91.0	99.0	97.0					5																	176665274		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176665274C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3958C>T	5.37:g.176665274C>T	ENSP00000395929:p.Arg1320*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1217*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1051*	p.R1320*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	7	4003	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1320					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.3958C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.527088	0.98850	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.19	4.31	0.51392	.	0.545556	0.16912	N	0.194472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0532	0.47903	0.1849:0.8151:0.0:0.0	.	.	.	.	X	1051;1320;1051;1217	.	ENSP00000343209:R1051X	R	+	1	2	NSD1	176597880	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.959000	0.56744	1.408000	0.46895	-0.169000	0.13324	CGA		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	184	0	0	0	1	0	13	184				
EFCAB12	90288	broad.mit.edu	37	3	129140500	129140500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129140500C>T	ENST00000505956.1	-	2	358	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E66K	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	66			E -> G (in dbSNP:rs3774787).				calcium ion binding (GO:0005509)										GTCTGATCCTCCTTGCGAGGC	0.567																																						ENST00000505956.1																			0											c.(196-198)Gag>Aag		EF-hand calcium binding domain 12							59.0	60.0	60.0					3																	129140500		1952	4147	6099	SO:0001583	missense	90288							g.chr3:129140500C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.196G>A	3.37:g.129140500C>T	ENSP00000420854:p.Glu66Lys					EFCAB12_ENST00000326085.3_Missense_Mutation_p.E66K	p.E66K	NM_207307.1	NP_997190.1					2	358	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.196G>A	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430160	0.25726	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.15256	2.44;2.44	3.97	-0.0485	0.13838	.	0.441304	0.19102	N	0.122662	T	0.08714	0.0216	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.22208	-1.0223	10	0.39692	T	0.17	-12.898	3.3431	0.07126	0.0:0.4186:0.2064:0.375	.	66	Q6NXP0	CC025_HUMAN	K	66	ENSP00000420854:E66K;ENSP00000324241:E66K	ENSP00000324241:E66K	E	-	1	0	C3orf25	130623190	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	-0.183000	0.09712	-0.015000	0.14150	0.655000	0.94253	GAG		0.567	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		7	59	0	0	0	1	0	7	59				
KLHDC4	54758	broad.mit.edu	37	16	87782313	87782313	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:87782313G>A	ENST00000270583.5	-	5	530	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	KLHDC4_ENST00000347925.5_Silent_p.L158L|RP11-278A23.2_ENST00000563036.1_RNA|KLHDC4_ENST00000353170.5_Silent_p.L101L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	158										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCCAAATGCAGGACCCAGAGA	0.567																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(472-474)Ctg>Ttg		kelch domain containing 4							170.0	168.0	169.0					16																	87782313		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87782313G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.472C>T	16.37:g.87782313G>A						KLHDC4_ENST00000347925.5_Silent_p.L158L|KLHDC4_ENST00000353170.5_Silent_p.L101L	p.L158L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	530	-			158					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.472C>T	CCDS10963.1																																																																																				0.567	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		15	253	0	0	0	1	0	15	253				
TULP4	56995	broad.mit.edu	37	6	158924017	158924017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:158924017C>T	ENST00000367097.3	+	13	4679	c.3322C>T	c.(3322-3324)Ccc>Tcc	p.P1108S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1108					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGGCACCCTCCCCTGCCTGA	0.627																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(3322-3324)Ccc>Tcc		tubby like protein 4							68.0	64.0	65.0					6																	158924017		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924017C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3322C>T	6.37:g.158924017C>T	ENSP00000356064:p.Pro1108Ser					TULP4_ENST00000367094.2_Intron	p.P1108S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4679	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1108					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.3322C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	0.281	-0.986171	0.02180	.	.	ENSG00000130338	ENST00000367097	T	0.20463	2.07	4.53	-7.87	0.01183	.	0.831387	0.10982	N	0.612582	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	10	0.38643	T	0.18	-0.3448	6.1031	0.20059	0.2949:0.3503:0.2957:0.0591	.	1108	Q9NRJ4	TULP4_HUMAN	S	1108	ENSP00000356064:P1108S	ENSP00000356064:P1108S	P	+	1	0	TULP4	158844005	0.002000	0.14202	0.000000	0.03702	0.392000	0.30506	-0.249000	0.08842	-1.873000	0.01135	-1.134000	0.01955	CCC		0.627	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		5	91	0	0	0	1	0	5	91				
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:48503378C>T	ENST00000361573.2	+	15	1623	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000539601.1_Silent_p.F308F|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000417961.1_Silent_p.F543F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627																																						ENST00000417961.1																			1	Substitution - coding silent(1)	p.F527F(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1627-1629)ttC>ttT		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							125.0	99.0	108.0					20																	48503378		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48503378C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1581C>T	20.37:g.48503378C>T						SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000539601.1_Silent_p.F308F|SLC9A8_ENST00000361573.2_Silent_p.F527F	p.F543F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		15	1839	+			527					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1629C>T	CCDS13421.1																																																																																				0.627	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	97	0	0	0	1	0	5	97				
DOPEY1	23033	broad.mit.edu	37	6	83847818	83847818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:83847818G>A	ENST00000349129.2	+	21	4317	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334R|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					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)		GGGTTCTCCAGGATCTCGAAA	0.418																																						ENST00000349129.2																			0				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						c.(4057-4059)Gga>Aga		dopey family member 1							107.0	109.0	108.0					6																	83847818		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83847818G>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.4057G>A	6.37:g.83847818G>A	ENSP00000195654:p.Gly1353Arg					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344R	p.G1353R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4317	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1353					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4057G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915671	0.33815	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.27557	1.68;1.66	6.16	6.16	0.99307	.	0.163705	0.53938	D	0.000048	T	0.25005	0.0607	N	0.19112	0.55	0.80722	D	1	D;P;P	0.61697	0.99;0.933;0.933	P;P;P	0.51701	0.677;0.618;0.618	T	0.01169	-1.1430	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1244;1344;1353	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1353;1334;1334	ENSP00000195654:G1353R;ENSP00000237163:G1334R	ENSP00000237163:G1334R	G	+	1	0	DOPEY1	83904537	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.744000	0.68664	2.937000	0.99478	0.650000	0.86243	GGA		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		17	181	0	0	0	1	0	17	181				
GABBR2	9568	broad.mit.edu	37	9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(445-447)tgG>tgA		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						185.0	186.0	185.0					9																	101340229		2203	4300	6503	SO:0001587	stop_gained	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101340229C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.447G>A	9.37:g.101340229C>T	ENSP00000259455:p.Trp149*						p.W149*	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			2	906	-		Acute lymphoblastic leukemia(62;0.0527)	149					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Nonsense_Mutation	SNP	ENST00000259455.2	37	c.447G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	c	42	9.239518	0.99110	.	.	ENSG00000136928	ENST00000259455	.	.	.	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2881	14.194	0.65656	0.0:1.0:0.0:0.0	.	.	.	.	X	149	.	ENSP00000259455:W149X	W	-	3	0	GABBR2	100380050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.720000	0.84759	1.921000	0.55644	0.550000	0.68814	TGG		0.488	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			5	73	0	0	0	1	0	5	73				
SPEF2	79925	broad.mit.edu	37	5	35740240	35740240	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35740240C>T	ENST00000356031.3	+	23	3355	c.3201C>T	c.(3199-3201)ttC>ttT	p.F1067F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.F1062F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1067					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACAAGTTTCCAGGAGTTTC	0.378																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3184-3186)ttC>ttT		sperm flagellar 2							149.0	138.0	142.0					5																	35740240		1864	4117	5981	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740240C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3201C>T	5.37:g.35740240C>T						CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.F1067F	p.F1062F			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		23	3186	+	all_lung(31;7.56e-05)		1067					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.3186C>T	CCDS43309.1																																																																																				0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		21	174	0	0	0	1	0	21	174				
TBC1D14	57533	broad.mit.edu	37	4	6925443	6925443	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:6925443C>T	ENST00000409757.4	+	2	451	c.327C>T	c.(325-327)tcC>tcT	p.S109S	TBC1D14_ENST00000448507.1_Silent_p.S109S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	109					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CGCTGCCATCCTGTGCGCCAC	0.647																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(325-327)tcC>tcT		TBC1 domain family, member 14							82.0	86.0	85.0					4																	6925443		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6925443C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.327C>T	4.37:g.6925443C>T						TBC1D14_ENST00000448507.1_Silent_p.S109S	p.S109S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	451	+			109					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.327C>T	CCDS3394.2																																																																																				0.647	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		20	185	0	0	0	1	0	20	185				
SPTA1	6708	broad.mit.edu	37	1	158641987	158641987	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:158641987C>T	ENST00000368147.4	-	11	1531		c.e11-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTATTTCCATCTTTGGAAAGA	0.358																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e11-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							78.0	70.0	72.0					1																	158641987		1868	4114	5982	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641987C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1351-1G>A	1.37:g.158641987C>T						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			11	1531	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015234	0.35511	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5758	0.87949	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156908611	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.423000	0.66458	2.706000	0.92434	0.655000	0.94253	.		0.358	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	4	42	0	0	0	1	0	4	42				
TRIM23	373	broad.mit.edu	37	5	64892886	64892886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:64892886G>A	ENST00000231524.9	-	8	1672	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	TRIM23_ENST00000381018.3_Missense_Mutation_p.P434L|TRIM23_ENST00000274327.7_Missense_Mutation_p.P434L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	434	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCAATTGTTGGAATGGGCTG	0.378																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1300-1302)cCa>cTa		tripartite motif containing 23							115.0	112.0	113.0					5																	64892886		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64892886G>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1301C>T	5.37:g.64892886G>A	ENSP00000231524:p.Pro434Leu					TRIM23_ENST00000381018.3_Missense_Mutation_p.P434L|TRIM23_ENST00000274327.7_Missense_Mutation_p.P434L	p.P434L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	8	1672	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	434			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1301C>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240896	0.95272	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.83506	-1.73;-1.73;-1.73	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	H	0.95504	3.68	0.80722	D	1	D;D;P	0.76494	0.999;0.989;0.906	D;P;B	0.81914	0.995;0.59;0.371	D	0.95089	0.8220	10	0.87932	D	0	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	434;434;434	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	L	434	ENSP00000231524:P434L;ENSP00000370406:P434L;ENSP00000274327:P434L	ENSP00000231524:P434L	P	-	2	0	TRIM23	64928642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	CCA		0.378	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		8	164	0	0	0	1	0	8	164				
CEP164	22897	broad.mit.edu	37	11	117263265	117263265	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:117263265C>T	ENST00000278935.3	+	19	2562	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	805	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAGGAGGCCCAGCTGCAGA	0.572																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(2413-2415)gcC>gcT		centrosomal protein 164kDa							118.0	112.0	114.0					11																	117263265		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117263265C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2415C>T	11.37:g.117263265C>T						CEP164_ENST00000533706.1_3'UTR	p.A805A	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	19	2562	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	805			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.2415C>T	CCDS31683.1																																																																																				0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	66	0	0	0	1	0	5	66				
MEP1A	4224	broad.mit.edu	37	6	46806750	46806750	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:46806750G>A	ENST00000230588.4	+	14	2127	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	706	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTACACGGGGGAGCGCTGTC	0.592																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2116-2118)ggG>ggA		meprin A, alpha (PABA peptide hydrolase)							147.0	133.0	137.0					6																	46806750		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806750G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2118G>A	6.37:g.46806750G>A							p.G706G	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2127	+			706			EGF-like.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.2118G>A	CCDS4918.1																																																																																				0.592	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		7	169	0	0	0	1	0	7	169				
GPC5	2262	broad.mit.edu	37	13	92797235	92797235	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:92797235C>T	ENST00000377067.3	+	7	1926	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	518					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CACTGAAGATCACAGACTGTA	0.378																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1552-1554)atC>atT		glypican 5							144.0	123.0	130.0					13																	92797235		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797235C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1554C>T	13.37:g.92797235C>T							p.I518I	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			7	1926	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	518					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1554C>T	CCDS9468.1																																																																																				0.378	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		4	67	0	0	0	1	0	4	67				
PTPRD	5789	broad.mit.edu	37	9	8331682	8331682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:8331682C>T	ENST00000381196.4	-	41	5977	c.5434G>A	c.(5434-5436)Gga>Aga	p.G1812R	PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1812	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGGCACTCCTTGCTCTGGC	0.512										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5434-5436)Gga>Aga		protein tyrosine phosphatase, receptor type, D							132.0	124.0	127.0					9																	8331682		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331682C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5434G>A	9.37:g.8331682C>T	ENSP00000370593:p.Gly1812Arg	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R	p.G1812R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5977	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1812			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5434G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205942	0.79127	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.050967	0.85682	D	0.000000	T	0.56978	0.2022	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.991;1.0;0.986;0.659;0.982	D;D;D;D;P;D;P;B;P	0.91635	0.999;0.999;0.999;0.999;0.649;0.999;0.818;0.399;0.789	T	0.68765	-0.5322	9	.	.	.	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	1405;1396;1405;1406;1402;1402;1799;1812;1812	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1812;1812;1799;1790;1406;1405;1402;1402;1283;1812;1405;1405	ENSP00000370593:G1812R;ENSP00000348812:G1812R;ENSP00000353187:G1799R;ENSP00000351293:G1790R;ENSP00000347373:G1406R;ENSP00000380741:G1405R;ENSP00000380735:G1402R;ENSP00000440515:G1402R;ENSP00000438164:G1812R;ENSP00000417093:G1405R;ENSP00000380731:G1405R	.	G	-	1	0	PTPRD	8321682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.432000	0.80349	2.788000	0.95919	0.555000	0.69702	GGA		0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			29	175	0	0	0	1	0	29	175				
FAM177B	400823	broad.mit.edu	37	1	222920367	222920367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:222920367C>T	ENST00000445590.2	+	4	451	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM177B_ENST00000360827.2_Missense_Mutation_p.S62F	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	62										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TCTAAACTTTCCTGGGGGCCC	0.353																																						ENST00000445590.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						c.(184-186)tCc>tTc		family with sequence similarity 177, member B							101.0	105.0	104.0					1																	222920367		2203	4300	6503	SO:0001583	missense	400823							g.chr1:222920367C>T	AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.185C>T	1.37:g.222920367C>T	ENSP00000414451:p.Ser62Phe					FAM177B_ENST00000360827.2_Missense_Mutation_p.S62F	p.S62F	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN			4	451	+			62					Q6ZUN8	Missense_Mutation	SNP	ENST00000445590.2	37	c.185C>T	CCDS1535.2	.	.	.	.	.	.	.	.	.	.	c	18.33	3.599281	0.66332	.	.	ENSG00000197520	ENST00000434700;ENST00000445590;ENST00000360827;ENST00000456298	T;T;T;T	0.47528	0.84;1.38;1.38;0.84	4.63	4.63	0.57726	.	0.374651	0.19159	N	0.121239	T	0.61813	0.2377	L	0.58101	1.795	0.27885	N	0.939528	D	0.69078	0.997	D	0.64237	0.923	T	0.57854	-0.7739	10	0.87932	D	0	-3.021	12.9515	0.58403	0.0:1.0:0.0:0.0	.	62	A6PVY3	F177B_HUMAN	F	62	ENSP00000391615:S62F;ENSP00000414451:S62F;ENSP00000354070:S62F;ENSP00000400233:S62F	ENSP00000354070:S62F	S	+	2	0	FAM177B	220986990	0.842000	0.29525	0.963000	0.40424	0.760000	0.43138	3.562000	0.53777	2.109000	0.64355	0.591000	0.81541	TCC		0.353	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2	NM_207468		8	113	0	0	0	1	0	8	113				
OR5M9	390162	broad.mit.edu	37	11	56230826	56230826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56230826G>A	ENST00000279791.1	-	1	51	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCTCCTGACGACAGGTCAGC	0.428																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(52-54)Cgt>Tgt		olfactory receptor, family 5, subfamily M, member 9							34.0	35.0	35.0					11																	56230826		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230826G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.52C>T	11.37:g.56230826G>A	ENSP00000279791:p.Arg18Cys						p.R18C	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	51	-	Esophageal squamous(21;0.00448)		18					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.52C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	6.864	0.528829	0.13127	.	.	ENSG00000150269	ENST00000279791	T	0.01084	5.36	4.79	1.67	0.24075	.	0.000000	0.44688	D	0.000440	T	0.01189	0.0039	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.15870	0.014	T	0.45041	-0.9288	10	0.59425	D	0.04	-0.7536	4.7608	0.13108	0.0917:0.1452:0.6149:0.1482	.	18	Q8NGP3	OR5M9_HUMAN	C	18	ENSP00000279791:R18C	ENSP00000279791:R18C	R	-	1	0	OR5M9	55987402	0.000000	0.05858	0.004000	0.12327	0.423000	0.31445	-0.524000	0.06222	1.125000	0.41998	0.549000	0.68633	CGT		0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		4	48	0	0	0	1	0	4	48				
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	lincRNA	SNP	C	C	T	rs376520805	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:65266481C>T	ENST00000534336.1	+	0	1249				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGTTGTTCTCCGTCTATAAA	0.537													C|||	3	0.000599042	0.0008	0.0	5008	,	,		15343	0.001		0.001	False		,,,				2504	0.0					ENST00000534336.1																			0																				140.0	140.0	140.0					11																	65266481		874	1988	2862			378938							g.chr11:65266481C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266481C>T								NR_002819.2						0	1249	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.537	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	144	0	0	0	1	0	7	144				
CCBL1	883	broad.mit.edu	37	9	131596036	131596036	+	Missense_Mutation	SNP	G	G	A	rs186653130		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:131596036G>A	ENST00000302586.3	-	12	1354	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	CCBL1_ENST00000320665.6_Missense_Mutation_p.R348C|CCBL1_ENST00000436267.2_Missense_Mutation_p.R492C|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	398					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AAACAGAAGCGGATATAGTGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20266	0.001		0.0	False		,,,				2504	0.0					ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1474-1476)Cgc>Tgc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						54.0	56.0	55.0					9																	131596036		1966	4156	6122	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131596036G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1192C>T	9.37:g.131596036G>A	ENSP00000302227:p.Arg398Cys					CCBL1_ENST00000302586.3_Missense_Mutation_p.R398C|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R348C	p.R492C			Q16773	KAT1_HUMAN			14	1623	-			398					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1474C>T	CCDS43884.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.6	4.010031	0.75046	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.98280	-4.84;-4.84;-4.84	5.46	5.46	0.80206	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.106279	0.64402	D	0.000009	D	0.99287	0.9751	H	0.98276	4.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.99013	1.0815	10	0.87932	D	0	-12.9484	8.6669	0.34125	0.0788:0.0:0.7698:0.1514	.	492;398;348;398	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	C	398;348;492	ENSP00000302227:R398C;ENSP00000317342:R348C;ENSP00000399415:R492C	ENSP00000302227:R398C	R	-	1	0	CCBL1	130635857	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.531000	0.67148	2.569000	0.86673	0.436000	0.28706	CGC		0.547	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			5	49	0	0	0	1	0	5	49				
CHPF2	54480	broad.mit.edu	37	7	150935357	150935357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:150935357C>T	ENST00000035307.2	+	4	3422	c.1909C>T	c.(1909-1911)Cca>Tca	p.P637S	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P629S|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	637	Gly/Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAGATCACCCCCAGGGCCCCC	0.652																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1909-1911)Cca>Tca		chondroitin polymerizing factor 2							24.0	27.0	26.0					7																	150935357		2202	4299	6501	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935357C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1909C>T	7.37:g.150935357C>T	ENSP00000035307:p.Pro637Ser					CHPF2_ENST00000495645.1_Missense_Mutation_p.P629S	p.P637S	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3422	+			637			Gly/Pro-rich.		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1909C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421538	0.43020	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.15603	2.41;2.41	4.55	2.73	0.32206	.	0.288412	0.25175	N	0.032563	T	0.07458	0.0188	N	0.08118	0	0.27488	N	0.952367	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.35525	-0.9785	10	0.18710	T	0.47	-2.6116	7.6598	0.28396	0.0:0.7406:0.1667:0.0927	.	637;629	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	S	629;637;637	ENSP00000418914:P629S;ENSP00000035307:P637S	ENSP00000035307:P637S	P	+	1	0	CHPF2	150566290	0.921000	0.31238	0.958000	0.39756	0.697000	0.40408	0.404000	0.20999	0.524000	0.28502	0.655000	0.94253	CCA		0.652	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		5	52	0	0	0	1	0	5	52				
MCC	4163	broad.mit.edu	37	5	112403781	112403781	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:112403781G>A	ENST00000302475.4	-	11	2018	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MCC_ENST00000515367.2_Silent_p.S422S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.S675S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	485					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTTACCAGGGGAGGACCCCA	0.612																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1453-1455)tcC>tcT		mutated in colorectal cancers							49.0	54.0	52.0					5																	112403781		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112403781G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1455C>T	5.37:g.112403781G>A						MCC_ENST00000408903.3_Silent_p.S675S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S422S	p.S485S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	11	2018	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	485					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.1455C>T	CCDS4111.1																																																																																				0.612	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		5	69	0	0	0	1	0	5	69				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	31	0	0	0	1	0	4	31				
ERICH3	127254	broad.mit.edu	37	1	75039162	75039162	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:75039162A>T	ENST00000326665.5	-	14	2450	c.2232T>A	c.(2230-2232)aaT>aaA	p.N744K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		744	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCACCATGAAATTCATTGTTG	0.368																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2230-2232)aaT>aaA		chromosome 1 open reading frame 173							69.0	71.0	70.0					1																	75039162		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039162A>T																												ENST00000326665.5:c.2232T>A	1.37:g.75039162A>T	ENSP00000322609:p.Asn744Lys					C1orf173_ENST00000433746.2_5'UTR	p.N744K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2450	-			744			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2232T>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326856	0.24080	.	.	ENSG00000178965	ENST00000326665	T	0.20738	2.05	5.26	1.26	0.21427	.	.	.	.	.	T	0.03348	0.0097	L	0.36672	1.1	0.09310	N	1	B	0.24721	0.11	B	0.23419	0.046	T	0.44892	-0.9298	9	0.06236	T	0.91	-3.0348	4.4703	0.11708	0.6094:0.1689:0.2217:0.0	.	744	Q5RHP9	CA173_HUMAN	K	744	ENSP00000322609:N744K	ENSP00000322609:N744K	N	-	3	2	C1orf173	74811750	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.148000	0.16224	0.404000	0.25506	-0.313000	0.08912	AAT		0.368	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	110	0	0	0	1	0	6	110				
LRRC14	9684	broad.mit.edu	37	8	145746089	145746089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145746089C>T	ENST00000292524.1	+	3	943	c.797C>T	c.(796-798)tCc>tTc	p.S266F	RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.S266F|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	266										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGCAGCCCTCCGTGGATGGC	0.637																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(796-798)tCc>tTc		leucine rich repeat containing 14							52.0	50.0	51.0					8																	145746089		2202	4299	6501	SO:0001583	missense	9684							g.chr8:145746089C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.797C>T	8.37:g.145746089C>T	ENSP00000292524:p.Ser266Phe					LRRC14_ENST00000529022.1_Missense_Mutation_p.S266F	p.S266F	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	943	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		266					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.797C>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584490	0.46110	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.19532	2.14;4.94;4.94	4.27	4.27	0.50696	.	0.564102	0.18664	N	0.134636	T	0.23727	0.0574	L	0.43923	1.385	0.09310	N	1	P	0.51351	0.944	P	0.45343	0.477	T	0.08534	-1.0717	10	0.56958	D	0.05	.	14.2264	0.65863	0.0:1.0:0.0:0.0	.	266	Q15048	LRC14_HUMAN	F	266	ENSP00000436452:S266F;ENSP00000434768:S266F;ENSP00000292524:S266F	ENSP00000292524:S266F	S	+	2	0	LRRC14	145716897	0.005000	0.15991	0.086000	0.20670	0.795000	0.44927	2.052000	0.41316	2.215000	0.71742	0.313000	0.20887	TCC		0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		14	76	0	0	0	1	0	14	76				
COL19A1	1310	broad.mit.edu	37	6	70639431	70639431	+	Missense_Mutation	SNP	C	C	T	rs150284256	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:70639431C>T	ENST00000322773.4	+	6	607	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	169	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.R169C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTGTTTGATCGTCAGTGGCA	0.403													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		16357	0.0		0.0	False		,,,				2504	0.0					ENST00000322773.4																			1	Substitution - Missense(1)	p.R169C(1)	endometrium(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(505-507)Cgt>Tgt		collagen, type XIX, alpha 1		C	CYS/ARG	23,4383	30.8+/-60.4	0,23,2180	124.0	119.0	121.0		505	5.5	1.0	6	dbSNP_134	121	0,8600		0,0,4300	yes	missense	COL19A1	NM_001858.4	180	0,23,6480	TT,TC,CC		0.0,0.522,0.1768	probably-damaging	169/1143	70639431	23,12983	2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639431C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.505C>T	6.37:g.70639431C>T	ENSP00000316030:p.Arg169Cys						p.R169C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	607	+			169			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.505C>T	CCDS4970.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	14.93	2.682810	0.47991	0.00522	0.0	ENSG00000082293	ENST00000322773	T	0.13657	2.57	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.33352	0.0860	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.09684	-1.0663	10	0.87932	D	0	.	19.4457	0.94845	0.0:1.0:0.0:0.0	.	169	Q14993	COJA1_HUMAN	C	169	ENSP00000316030:R169C	ENSP00000316030:R169C	R	+	1	0	COL19A1	70696152	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.295000	0.78780	2.592000	0.87571	0.467000	0.42956	CGT		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	121	0	0	0	1	0	7	121				
OR4K1	79544	broad.mit.edu	37	14	20403884	20403884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20403884C>T	ENST00000285600.4	+	1	118	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTCTCTAATTCCTGGGGACTT	0.348																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(58-60)tCc>tTc		olfactory receptor, family 4, subfamily K, member 1							351.0	395.0	380.0					14																	20403884		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403884C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.59C>T	14.37:g.20403884C>T	ENSP00000285600:p.Ser20Phe						p.S20F	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	118	+	all_cancers(95;0.00108)		20					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.59C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	7.231	0.599361	0.13939	.	.	ENSG00000155249	ENST00000285600	T	0.01099	5.34	4.77	4.77	0.60923	.	0.000000	0.49916	D	0.000129	T	0.01695	0.0054	L	0.54908	1.71	0.21579	N	0.999637	B	0.29627	0.252	B	0.30316	0.114	T	0.39165	-0.9627	10	0.66056	D	0.02	.	8.8332	0.35096	0.0:0.8992:0.0:0.1007	.	20	Q8NGD4	OR4K1_HUMAN	F	20	ENSP00000285600:S20F	ENSP00000285600:S20F	S	+	2	0	OR4K1	19473724	0.000000	0.05858	0.564000	0.28396	0.138000	0.21146	-0.042000	0.12063	2.483000	0.83821	0.561000	0.74099	TCC		0.348	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			23	336	0	0	0	1	0	23	336				
HSPA8	3312	broad.mit.edu	37	11	122930406	122930406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:122930406G>A	ENST00000532636.1	-	5	1014	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	HSPA8_ENST00000526110.1_Missense_Mutation_p.R280C|HSPA8_ENST00000534319.1_Missense_Mutation_p.R63C|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.R299C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R153C|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.R299C|HSPA8_ENST00000534624.1_Missense_Mutation_p.R299C|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	299	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATCGGGCACGGGTAATGGAG	0.498																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(895-897)Cgt>Tgt		heat shock 70kDa protein 8							47.0	47.0	47.0					11																	122930406		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930406G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.895C>T	11.37:g.122930406G>A	ENSP00000437125:p.Arg299Cys					HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.R299C|HSPA8_ENST00000534319.1_Missense_Mutation_p.R63C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R153C|HSPA8_ENST00000532636.1_Missense_Mutation_p.R299C|HSPA8_ENST00000526110.1_Missense_Mutation_p.R280C|HSPA8_ENST00000453788.2_Missense_Mutation_p.R299C	p.R299C	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1171	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	299			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.895C>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156537	0.57259	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31;4.31;4.31	4.8	3.81	0.43845	.	0.054874	0.64402	D	0.000004	T	0.26195	0.0639	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.76494	0.973;0.999;0.999;0.973	P;P;P;P	0.61874	0.473;0.895;0.831;0.473	T	0.47522	-0.9111	10	0.87932	D	0	-11.7953	10.9442	0.47292	0.0:0.0:0.6249:0.3751	.	299;299;299;299	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	C	299;153;299;299;299;63;280;239	ENSP00000437125:R299C;ENSP00000437189:R153C;ENSP00000432083:R299C;ENSP00000404372:R299C;ENSP00000227378:R299C;ENSP00000433316:R63C;ENSP00000433584:R280C;ENSP00000432884:R239C	ENSP00000227378:R299C	R	-	1	0	HSPA8	122435616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	2.379000	0.81126	0.556000	0.70494	CGT		0.498	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			5	71	0	0	0	1	0	5	71				
SCN7A	6332	broad.mit.edu	37	2	167262388	167262388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:167262388C>T	ENST00000409855.1	-	25	4877	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1584I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACCCATAACTCTCTTTGTAAA	0.428																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.R1584I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4750-4752)aGa>aAa		sodium channel, voltage-gated, type VII, alpha subunit							163.0	162.0	163.0					2																	167262388		1898	4123	6021	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262388C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4751G>A	2.37:g.167262388C>T	ENSP00000386796:p.Arg1584Lys						p.R1584K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4877	-			1584						Missense_Mutation	SNP	ENST00000409855.1	37	c.4751G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975768	0.53720	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96716	-4.1	4.51	4.51	0.55191	.	0.000000	0.52532	D	0.000066	D	0.96259	0.8780	M	0.67625	2.065	0.27377	N	0.955516	P	0.52316	0.952	P	0.49637	0.617	D	0.92697	0.6171	10	0.87932	D	0	.	15.1081	0.72336	0.0:1.0:0.0:0.0	.	1584	Q01118	SCN7A_HUMAN	K	1584	ENSP00000386796:R1584K	ENSP00000259060:R1584K	R	-	2	0	SCN7A	166970634	0.004000	0.15560	0.997000	0.53966	0.857000	0.48899	1.741000	0.38238	2.514000	0.84764	0.655000	0.94253	AGA		0.428	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			17	241	0	0	0	1	0	17	241				
CSMD2	114784	broad.mit.edu	37	1	34383840	34383840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:34383840G>A	ENST00000373381.4	-	5	951	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	219	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTCCGAGGGGAAGTGGGGG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(775-777)Ccc>Tcc		CUB and Sushi multiple domains 2							93.0	79.0	84.0					1																	34383840		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34383840G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.775C>T	1.37:g.34383840G>A	ENSP00000362479:p.Pro259Ser						p.P259S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			5	951	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	219			CUB 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.775C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073640	0.76415	.	.	ENSG00000121904	ENST00000373381	T	0.52754	0.65	5.48	5.48	0.80851	CUB (5);	0.000000	0.64402	D	0.000001	T	0.70413	0.3221	H	0.96460	3.825	0.80722	D	1	B;B	0.26672	0.037;0.156	B;B	0.37692	0.06;0.256	T	0.75522	-0.3288	10	0.66056	D	0.02	.	18.3364	0.90290	0.0:0.0:1.0:0.0	.	219;259	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	259	ENSP00000362479:P259S	ENSP00000241312:P219S	P	-	1	0	CSMD2	34156427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.859000	0.99545	2.591000	0.87537	0.478000	0.44815	CCC		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	50	0	0	0	1	0	4	50				
FAT2	2196	broad.mit.edu	37	5	150911397	150911397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:150911397G>A	ENST00000261800.5	-	13	9574	c.9562C>T	c.(9562-9564)Cgt>Tgt	p.R3188C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3188	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGGCACGGACCGTGAGC	0.642																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9562-9564)Cgt>Tgt		FAT atypical cadherin 2							95.0	89.0	91.0					5																	150911397		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911397G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9562C>T	5.37:g.150911397G>A	ENSP00000261800:p.Arg3188Cys						p.R3188C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9574	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3188			Cadherin 28.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9562C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.084|6.084	0.383731|0.383731	0.11524|0.11524	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.61742	.|0.08	5.34|5.34	3.36|3.36	0.38483|0.38483	.|Cadherin (4);Cadherin-like (1);	.|0.252303	.|0.27388	.|N	.|0.019597	T|T	0.57932|0.57932	0.2087|0.2087	M|M	0.89163|0.89163	3.01|3.01	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.18166	.|0.026	.|B	.|0.16722	.|0.016	T|T	0.57723|0.57723	-0.7762|-0.7762	5|10	.|0.52906	.|T	.|0.07	.|.	4.413|4.413	0.11443|0.11443	0.216:0.0:0.4895:0.2945|0.216:0.0:0.4895:0.2945	.|.	.|3188	.|Q9NYQ8	.|FAT2_HUMAN	L|C	46|3188	.|ENSP00000261800:R3188C	.|ENSP00000261800:R3188C	P|R	-|-	2|1	0|0	FAT2|FAT2	150891590|150891590	0.162000|0.162000	0.22906|0.22906	0.947000|0.947000	0.38551|0.38551	0.005000|0.005000	0.04900|0.04900	1.655000|1.655000	0.37345|0.37345	1.258000|1.258000	0.44101|0.44101	0.557000|0.557000	0.71058|0.71058	CCG|CGT		0.642	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	142	0	0	0	1	0	11	142				
STAB2	55576	broad.mit.edu	37	12	104089344	104089344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:104089344G>A	ENST00000388887.2	+	32	3596	c.3392G>A	c.(3391-3393)aGa>aAa	p.R1131K		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCCCACAAAGACGTCTAACT	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3391-3393)aGa>aAa		stabilin 2							155.0	151.0	152.0					12																	104089344		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089344G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3392G>A	12.37:g.104089344G>A	ENSP00000373539:p.Arg1131Lys						p.R1131K	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			32	3596	+			1131						Missense_Mutation	SNP	ENST00000388887.2	37	c.3392G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728352	0.30593	.	.	ENSG00000136011	ENST00000388887	T	0.62498	0.02	6.17	6.17	0.99709	FAS1 domain (1);Growth factor, receptor (1);	0.105789	0.64402	D	0.000005	T	0.43166	0.1235	L	0.35593	1.075	0.09310	N	0.999995	P	0.39282	0.666	B	0.30179	0.112	T	0.45352	-0.9267	10	0.06099	T	0.92	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	1131	Q8WWQ8	STAB2_HUMAN	K	1131	ENSP00000373539:R1131K	ENSP00000373539:R1131K	R	+	2	0	STAB2	102613474	0.958000	0.32768	0.317000	0.25265	0.031000	0.12232	2.424000	0.44714	2.941000	0.99782	0.655000	0.94253	AGA		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			6	69	0	0	0	1	0	6	69				
MPPED1	758	broad.mit.edu	37	22	43821159	43821159	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:43821159G>A	ENST00000417669.2	+	2	612	c.168G>A	c.(166-168)caG>caA	p.Q56Q	MPPED1_ENST00000443721.1_Silent_p.Q56Q|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.Q89Q|MPPED1_ENST00000542779.1_Silent_p.Q56Q			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	56							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACCCCACCCAGGCCTTCACCT	0.657																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(166-168)caG>caA		metallophosphoesterase domain containing 1							49.0	55.0	53.0					22																	43821159		2171	4289	6460	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43821159G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.168G>A	22.37:g.43821159G>A						MPPED1_ENST00000538182.1_Silent_p.Q89Q|MPPED1_ENST00000443721.1_Silent_p.Q56Q|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.Q56Q	p.Q56Q			O15442	MPPD1_HUMAN			2	612	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	56					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.168G>A	CCDS46723.1																																																																																				0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		5	60	0	0	0	1	0	5	60				
LATS2	26524	broad.mit.edu	37	13	21565494	21565494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:21565494G>A	ENST00000382592.4	-	3	797	c.392C>T	c.(391-393)gCc>gTc	p.A131V	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.A131V	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCCAGGGCGGCCTCGATGCT	0.577																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(391-393)gCc>gTc		large tumor suppressor kinase 2							87.0	67.0	74.0					13																	21565494		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21565494G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.392C>T	13.37:g.21565494G>A	ENSP00000372035:p.Ala131Val					LATS2_ENST00000542899.1_Missense_Mutation_p.A131V|LATS2_ENST00000472754.1_5'UTR	p.A131V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	797	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	131			UBA.			Missense_Mutation	SNP	ENST00000382592.4	37	c.392C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490011	0.96339	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.31510	1.49;1.49	5.12	5.12	0.69794	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.64402	D	0.000004	T	0.44095	0.1277	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.48210	-0.9055	10	0.72032	D	0.01	.	18.6032	0.91256	0.0:0.0:1.0:0.0	.	131	Q9NRM7	LATS2_HUMAN	V	131	ENSP00000372035:A131V;ENSP00000441817:A131V	ENSP00000372035:A131V	A	-	2	0	LATS2	20463494	1.000000	0.71417	0.979000	0.43373	0.947000	0.59692	9.414000	0.97362	2.400000	0.81607	0.555000	0.69702	GCC		0.577	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			7	60	0	0	0	1	0	7	60				
EEF1D	1936	broad.mit.edu	37	8	144663268	144663268	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144663268C>G	ENST00000529272.1	-	5	746	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532400.1_Intron|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000526838.1_Missense_Mutation_p.E97Q|EEF1D_ENST00000531621.1_Missense_Mutation_p.E73Q|NAPRT1_ENST00000276844.7_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000442189.2_Missense_Mutation_p.E482Q|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000532741.1_Missense_Mutation_p.E532Q|EEF1D_ENST00000419152.2_Missense_Mutation_p.E116Q|EEF1D_ENST00000524624.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000423316.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000395119.3_Missense_Mutation_p.E116Q|EEF1D_ENST00000528610.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000317198.6_Missense_Mutation_p.E116Q			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	116					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGCTCTTCTCCAGCACGTTC	0.682																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1594-1596)Gag>Cag		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							47.0	48.0	47.0					8																	144663268		2203	4297	6500	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144663268C>G	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.346G>C	8.37:g.144663268C>G	ENSP00000434872:p.Glu116Gln					EEF1D_ENST00000317198.6_Missense_Mutation_p.E116Q|EEF1D_ENST00000442189.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000528610.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000529272.1_Missense_Mutation_p.E116Q|EEF1D_ENST00000395119.3_Missense_Mutation_p.E116Q|EEF1D_ENST00000423316.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Missense_Mutation_p.E97Q|EEF1D_ENST00000531621.1_Missense_Mutation_p.E73Q|EEF1D_ENST00000419152.2_Missense_Mutation_p.E116Q|EEF1D_ENST00000524624.1_Missense_Mutation_p.E92Q	p.E532Q			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	1822	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		116					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1594G>C	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780796	0.90195	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D	0.89917	0.988;0.997;1.0;0.975;1.0;0.999	P;D;D;P;D;D	0.85130	0.824;0.954;0.996;0.608;0.996;0.997	D	0.86476	0.1788	9	0.66056	D	0.02	.	15.3563	0.74428	0.0:1.0:0.0:0.0	.	97;482;410;116;532;482	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	Q	116;532;97;482;92;116;116;482;410;116;482;73;92;116;92;116;116;116;116;116;97;132	.	ENSP00000317399:E116Q	E	-	1	0	EEF1D	144734411	1.000000	0.71417	0.989000	0.46669	0.710000	0.40934	6.605000	0.74155	2.387000	0.81309	0.455000	0.32223	GAG		0.682	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		6	92	0	0	0	1	0	6	92				
SLC6A1	6529	broad.mit.edu	37	3	11059022	11059022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:11059022C>T	ENST00000287766.4	+	3	546	c.125C>T	c.(124-126)cCc>cTc	p.P42L	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	42					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCAGACCTCCCCGACCGGGAC	0.637																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(124-126)cCc>cTc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						79.0	80.0	80.0					3																	11059022		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059022C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.125C>T	3.37:g.11059022C>T	ENSP00000287766:p.Pro42Leu					SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	p.P42L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	546	+		Ovarian(110;0.0392)	42					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.125C>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155623	0.57259	.	.	ENSG00000157103	ENST00000287766	T	0.73789	-0.78	4.37	4.37	0.52481	.	0.175032	0.40222	N	0.001153	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B	0.23937	0.094	B	0.21917	0.037	T	0.58842	-0.7565	10	0.52906	T	0.07	.	15.6328	0.76926	0.0:1.0:0.0:0.0	.	42	P30531	SC6A1_HUMAN	L	42	ENSP00000287766:P42L	ENSP00000287766:P42L	P	+	2	0	SLC6A1	11034022	1.000000	0.71417	0.633000	0.29310	0.546000	0.35178	7.168000	0.77570	2.414000	0.81942	0.462000	0.41574	CCC		0.637	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		6	77	0	0	0	1	0	6	77				
TP53	7157	broad.mit.edu	37	17	7574004	7574004	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7574004G>C	ENST00000269305.4	-	10	1212	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F341L|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	341	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> C (in sporadic cancers; 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.R342fs*3(5)|p.I332fs*5(1)|p.R342*(1)|p.?(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)	TCAGCTCTCGGAACATCTCGA	0.552		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)	ENST00000269305.4		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"""		16	Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.R342fs*3(5)|p.I332fs*5(1)|p.R342*(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|prostate(2)|large_intestine(1)|stomach(1)|liver(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1021-1023)ttC>ttG	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574004		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574004G>C	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.1023C>G	17.37:g.7574004G>C	ENSP00000269305:p.Phe341Leu	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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F341L|TP53_ENST00000420246.2_3'UTR	p.F341L	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1212	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	341		F -> C (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.1023C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118340	0.06838	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.85861	-2.04;-2.04	5.43	3.42	0.39159	p53, tetramerisation domain (3);	0.151595	0.47455	D	0.000237	T	0.64735	0.2625	N	0.11698	0.16	0.34231	D	0.676523	B	0.02656	0.0	B	0.12156	0.007	T	0.59386	-0.7464	10	0.02654	T	1	-19.1541	5.8938	0.18927	0.088:0.0:0.5671:0.345	.	341	P04637	P53_HUMAN	L	341;341;330	ENSP00000269305:F341L;ENSP00000391478:F341L	ENSP00000269305:F341L	F	-	3	2	TP53	7514729	0.822000	0.29219	0.947000	0.38551	0.847000	0.48162	0.215000	0.17562	1.268000	0.44264	0.561000	0.74099	TTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	44	0	0	0	1	0	8	44				
GALNT16	57452	broad.mit.edu	37	14	69799833	69799833	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:69799833G>A	ENST00000337827.4	+	8	1137	c.810G>A	c.(808-810)gaG>gaA	p.E270E	GALNT16_ENST00000553669.1_Silent_p.E270E|GALNT16_ENST00000448469.3_Silent_p.E270E	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	270					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCAAGTGGGAGCAGATCCCTC	0.612																																						ENST00000337827.4																			0											c.(808-810)gaG>gaA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							72.0	69.0	70.0					14																	69799833		2203	4300	6503	SO:0001819	synonymous_variant	57452							g.chr14:69799833G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.810G>A	14.37:g.69799833G>A						GALNT16_ENST00000448469.3_Silent_p.E270E|GALNT16_ENST00000553669.1_Silent_p.E270E	p.E270E	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					8	1137	+								Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.810G>A	CCDS32107.1																																																																																				0.612	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	78	0	0	0	1	0	5	78				
OPALIN	93377	broad.mit.edu	37	10	98105699	98105699	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:98105699C>T	ENST00000371172.3	-	6	830	c.425G>A	c.(424-426)tGa>tAa	p.*142*	OPALIN_ENST00000393870.2_Silent_p.*131*|OPALIN_ENST00000536387.1_Silent_p.*132*|OPALIN_ENST00000419479.1_Silent_p.*132*|OPALIN_ENST00000393871.1_Silent_p.*119*	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	0						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TGAGCTGCATCATTCCAGGCT	0.517																																						ENST00000419479.1																			0				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						c.(394-396)tGa>tAa		oligodendrocytic myelin paranodal and inner loop protein							123.0	106.0	112.0					10																	98105699		2203	4300	6503	SO:0001819	synonymous_variant	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105699C>T	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.425G>A	10.37:g.98105699C>T						OPALIN_ENST00000371172.3_Silent_p.*142*|OPALIN_ENST00000536387.1_Silent_p.*132*|OPALIN_ENST00000393870.2_Silent_p.*131*|OPALIN_ENST00000393871.1_Silent_p.*119*	p.*132*	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN			7	902	-			0					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Silent	SNP	ENST00000371172.3	37	c.395G>A	CCDS7448.1																																																																																				0.517	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		7	157	0	0	0	1	0	7	157				
KIAA1210	57481	broad.mit.edu	37	X	118220904	118220904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:118220904C>T	ENST00000402510.2	-	11	4288	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1430										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTGAACTTCCCAGGTTTGGT	0.438																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4288-4290)gGg>gAg		KIAA1210							112.0	104.0	106.0					X																	118220904		1852	4081	5933	SO:0001583	missense	57481							g.chrX:118220904C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4289G>A	X.37:g.118220904C>T	ENSP00000384670:p.Gly1430Glu						p.G1430E	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	4288	-			1430					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4289G>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.753744|1.753744	0.31046|0.31046	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10960|.	2.82|.	5.13|5.13	2.95|2.95	0.34219|0.34219	.|.	.|.	.|.	.|.	.|.	T|.	0.28101|.	0.0693|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P|.	0.45827|.	0.867|.	P|.	0.47744|.	0.556|.	T|.	0.21348|.	-1.0248|.	9|.	0.02654|.	T|.	1|.	.|.	4.6114|4.6114	0.12404|0.12404	0.5666:0.3003:0.133:0.0|0.5666:0.3003:0.133:0.0	.|.	1430|.	Q9ULL0|.	K1210_HUMAN|.	E|X	1430|836	ENSP00000384670:G1430E|.	ENSP00000384670:G1430E|.	G|W	-|-	2|3	0|0	RP13-347D8.6|KIAA1210	118104932|118104932	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.093000|0.093000	0.18481|0.18481	0.477000|0.477000	0.22196|0.22196	0.420000|0.420000	0.25954|0.25954	0.513000|0.513000	0.50165|0.50165	GGG|TGG		0.438	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		8	99	0	0	0	1	0	8	99				
PTPRF	5792	broad.mit.edu	37	1	44019309	44019309	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:44019309G>A	ENST00000359947.4	+	4	577		c.e4+1		PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGCTTCGAGGTGCGTCTGTG	0.597																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.e4+1		protein tyrosine phosphatase, receptor type, F							119.0	113.0	115.0					1																	44019309		2203	4300	6503	SO:0001630	splice_region_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019309G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.237+1G>A	1.37:g.44019309G>A						PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site		NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			4	577	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)						D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Splice_Site	SNP	ENST00000359947.4	37		CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486643	0.63962	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4352	0.90643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRF	43791896	1.000000	0.71417	0.996000	0.52242	0.486000	0.33341	9.869000	0.99810	2.405000	0.81733	0.655000	0.94253	.		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		Intron	9	215	0	0	0	1	0	9	215				
ICA1	3382	broad.mit.edu	37	7	8178638	8178638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:8178638C>T	ENST00000402384.3	-	11	1261	c.995G>A	c.(994-996)gGc>gAc	p.G332D	ICA1_ENST00000396675.3_Missense_Mutation_p.G332D|ICA1_ENST00000406470.2_Missense_Mutation_p.G332D|ICA1_ENST00000422063.2_Missense_Mutation_p.G361D|ICA1_ENST00000265577.7_Missense_Mutation_p.G331D|ICA1_ENST00000401396.1_Missense_Mutation_p.G320D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	332					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.G332D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTGTAGAGCCTTTGTCTAA	0.353																																						ENST00000402384.3																			1	Substitution - Missense(1)	p.G332D(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(994-996)gGc>gAc		islet cell autoantigen 1, 69kDa							138.0	129.0	132.0					7																	8178638		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8178638C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.995G>A	7.37:g.8178638C>T	ENSP00000385570:p.Gly332Asp					ICA1_ENST00000396675.3_Missense_Mutation_p.G332D|ICA1_ENST00000422063.2_Missense_Mutation_p.G361D|ICA1_ENST00000401396.1_Missense_Mutation_p.G320D|ICA1_ENST00000265577.7_Missense_Mutation_p.G331D|ICA1_ENST00000406470.2_Missense_Mutation_p.G332D	p.G332D			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	11	1261	-		Ovarian(82;0.0612)	332					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.995G>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330057	0.01298	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.17	0.0618	0.14342	Islet cell autoantigen Ica1, C-terminal (1);	0.493857	0.26654	N	0.023187	T	0.20577	0.0495	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.14012	0.009;0.007;0.007;0.005	B;B;B;B	0.20577	0.03;0.023;0.023;0.025	T	0.20273	-1.0280	9	0.12430	T	0.62	-0.3951	5.739	0.18083	0.0:0.3173:0.4737:0.209	.	361;331;332;320	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	D	332;332;331;332;320;361	.	ENSP00000265577:G331D	G	-	2	0	ICA1	8145163	0.017000	0.18338	0.048000	0.18961	0.101000	0.19017	0.047000	0.14056	0.110000	0.17919	0.655000	0.94253	GGC		0.353	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		7	110	0	0	0	1	0	7	110				
PNPLA8	50640	broad.mit.edu	37	7	108137032	108137032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:108137032G>C	ENST00000422087.1	-	8	2027	c.1621C>G	c.(1621-1623)Ctt>Gtt	p.L541V	PNPLA8_ENST00000426128.2_Missense_Mutation_p.L541V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.L441V|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L541V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L541V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	541	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ACTTACTTAAGAATGTTTTCC	0.264																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1621-1623)Ctt>Gtt		patatin-like phospholipase domain containing 8							63.0	62.0	62.0					7																	108137032		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108137032G>C	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1621C>G	7.37:g.108137032G>C	ENSP00000410804:p.Leu541Val					PNPLA8_ENST00000453144.1_Missense_Mutation_p.L441V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L541V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L541V	p.L541V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			6	1746	-			541			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1621C>G	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998271	0.74818	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.52	5.52	0.82312	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.91143	0.4947	10	0.52906	T	0.07	.	19.4361	0.94796	0.0:0.0:1.0:0.0	.	541	Q9NP80	PLPL8_HUMAN	V	541;541;541;541;441;541;441	ENSP00000394988:L541V;ENSP00000257694:L541V;ENSP00000373380:L541V;ENSP00000410804:L541V;ENSP00000387789:L441V;ENSP00000406779:L541V;ENSP00000402274:L441V	ENSP00000257694:L541V	L	-	1	0	PNPLA8	107924268	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.928000	0.87587	2.596000	0.87737	0.585000	0.79938	CTT		0.264	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		5	74	0	0	0	1	0	5	74				
TTN	7273	broad.mit.edu	37	2	179584052	179584052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179584052C>T	ENST00000591111.1	-	81	23338	c.23114G>A	c.(23113-23115)gGa>gAa	p.G7705E	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G8022E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6778E			Q8WZ42	TITIN_HUMAN	titin	13248	Ig-like 59.				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)			AATCTCATTTCCATCCTGAAA	0.512																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24064-24066)gGa>gAa		titin							121.0	121.0	121.0					2																	179584052		1890	4118	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584052C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23114G>A	2.37:g.179584052C>T	ENSP00000465570:p.Gly7705Glu					TTN_ENST00000591111.1_Missense_Mutation_p.G7705E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6778E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	p.G8022E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		83	24289	-			7705			Ig-like 62.		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.24065G>A		.	.	.	.	.	.	.	.	.	.	C	15.43	2.832608	0.50845	.	.	ENSG00000155657	ENST00000342992	T	0.54479	0.57	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77315	0.4112	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78443	-0.2202	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7705	Q8WZ42	TITIN_HUMAN	E	6778	ENSP00000343764:G6778E	ENSP00000343764:G6778E	G	-	2	0	TTN	179292297	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	4.051000	0.57412	2.894000	0.99253	0.655000	0.94253	GGA		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	186	0	0	0	1	0	16	186				
ATP13A1	57130	broad.mit.edu	37	19	19760591	19760591	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19760591G>T	ENST00000357324.6	-	18	2520	c.2494C>A	c.(2494-2496)Ccc>Acc	p.P832T	ATP13A1_ENST00000291503.5_Missense_Mutation_p.P714T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	832						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCACATGGGGGATGAGGCGG	0.677																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2494-2496)Ccc>Acc		ATPase type 13A1							55.0	59.0	58.0					19																	19760591		2203	4299	6502	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19760591G>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2494C>A	19.37:g.19760591G>T	ENSP00000349877:p.Pro832Thr					ATP13A1_ENST00000291503.5_Missense_Mutation_p.P714T	p.P832T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			18	2520	-			832					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2494C>A	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.545040	0.65198	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82167	-1.57;-1.58	5.58	5.58	0.84498	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.58669	1.825	0.80722	D	1	P;B	0.38565	0.637;0.444	B;B	0.38296	0.27;0.12	T	0.76908	-0.2785	10	0.13470	T	0.59	-38.366	17.061	0.86547	0.0:0.0:1.0:0.0	.	832;714	Q9HD20;Q9HD20-2	AT131_HUMAN;.	T	714;832	ENSP00000291503:P714T;ENSP00000349877:P832T	ENSP00000291503:P714T	P	-	1	0	ATP13A1	19621591	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	9.330000	0.96422	2.640000	0.89533	0.561000	0.74099	CCC		0.677	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		6	107	1	0	0.0215528	1	0.0216126	6	107				
HEATR5A	25938	broad.mit.edu	37	14	31762743	31762743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:31762743G>A	ENST00000389961.3	-	35	5890	c.5891C>T	c.(5890-5892)aCt>aTt	p.T1964I	HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1889I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1677I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000543095.2_Missense_Mutation_p.T1970I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1964										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATTATGGAAGTTGCTGATCC	0.378																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5908-5910)aCt>aTt		HEAT repeat containing 5A							76.0	76.0	76.0					14																	31762743		1845	4081	5926	SO:0001583	missense	25938						binding	g.chr14:31762743G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5891C>T	14.37:g.31762743G>A	ENSP00000374611:p.Thr1964Ile					HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1964I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1889I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1677I|RP11-596D21.1_ENST00000551799.1_RNA	p.T1970I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	36	6093	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1964					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.5909C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948460|3.948460	0.73787|0.73787	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.47177	.|0.87;0.85;0.87;0.87	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.268921	.|0.42172	.|D	.|0.000759	T|T	0.51534|0.51534	0.1680|0.1680	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|B	.|0.25563	.|0.129	.|B	.|0.31946	.|0.138	T|T	0.48854|0.48854	-0.8998|-0.8998	5|10	.|0.56958	.|D	.|0.05	.|.	20.0006|20.0006	0.97406|0.97406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1889	.|Q86XA9-2	.|.	F|I	1523|1964;1889;1677;1970	.|ENSP00000374611:T1964I;ENSP00000405407:T1889I;ENSP00000408681:T1677I;ENSP00000437968:T1970I	.|ENSP00000374611:T1964I	L|T	-|-	1|2	0|0	HEATR5A|HEATR5A	30832494|30832494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.821000|7.821000	0.86641|0.86641	2.726000|2.726000	0.93360|0.93360	0.650000|0.650000	0.86243|0.86243	CTT|ACT		0.378	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	111	0	0	0	1	0	16	111				
ZNF571	51276	broad.mit.edu	37	19	38056756	38056756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:38056756C>T	ENST00000328550.2	-	4	673	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF571_ENST00000358744.3_Missense_Mutation_p.E192K|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E192K|ZNF571_ENST00000451802.2_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	192					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(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGTTTCTCACCAGTCTGA	0.348																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(574-576)Gag>Aag		zinc finger protein 571							92.0	92.0	92.0					19																	38056756		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056756C>T	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.574G>A	19.37:g.38056756C>T	ENSP00000333660:p.Glu192Lys					ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA	p.E192K			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	673	-			192					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.574G>A	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788803	0.90367	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24350	1.86;1.86;1.86	3.49	2.44	0.29823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38665	0.1049	L	0.43757	1.38	0.31397	N	0.677154	D	0.76494	0.999	D	0.77004	0.989	T	0.37267	-0.9713	9	0.59425	D	0.04	.	8.5392	0.33382	0.0:0.8803:0.0:0.1197	.	192	Q7Z3V5	ZN571_HUMAN	K	192	ENSP00000333660:E192K;ENSP00000392638:E192K;ENSP00000351594:E192K	ENSP00000333660:E192K	E	-	1	0	ZNF571	42748596	0.106000	0.21978	0.192000	0.23308	0.796000	0.44982	0.610000	0.24253	0.652000	0.30806	0.313000	0.20887	GAG		0.348	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		5	75	0	0	0	1	0	5	75				
LRRTM4	80059	broad.mit.edu	37	2	77746581	77746581	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:77746581C>T	ENST00000409093.1	-	3	750	c.414G>A	c.(412-414)ctG>ctA	p.L138L	LRRTM4_ENST00000409884.1_Silent_p.L138L|LRRTM4_ENST00000409911.1_Silent_p.L139L|LRRTM4_ENST00000409282.1_Silent_p.L139L|LRRTM4_ENST00000409088.3_Silent_p.L138L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	138					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGGAGAGGTCCAGATTGCGGA	0.383																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(412-414)ctG>ctA		leucine rich repeat transmembrane neuronal 4							98.0	90.0	92.0					2																	77746581		1849	4087	5936	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746581C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.414G>A	2.37:g.77746581C>T						LRRTM4_ENST00000409282.1_Silent_p.L139L|LRRTM4_ENST00000409884.1_Silent_p.L138L|LRRTM4_ENST00000409911.1_Silent_p.L139L|LRRTM4_ENST00000409093.1_Silent_p.L138L	p.L138L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	828	-			138					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.414G>A	CCDS46346.1																																																																																				0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	86	0	0	0	1	0	5	86				
PHLDB1	23187	broad.mit.edu	37	11	118516315	118516315	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:118516315G>A	ENST00000361417.2	+	17	3774	c.3363G>A	c.(3361-3363)gaG>gaA	p.E1121E	PHLDB1_ENST00000527898.1_Silent_p.E172E|PHLDB1_ENST00000524713.1_Silent_p.E264E|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.E1074E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1121										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGCATGGAGACCAGCATCT	0.657																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3361-3363)gaG>gaA		pleckstrin homology-like domain, family B, member 1							89.0	85.0	86.0					11																	118516315		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118516315G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3363G>A	11.37:g.118516315G>A						PHLDB1_ENST00000524713.1_Silent_p.E264E|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.E1074E|PHLDB1_ENST00000527898.1_Silent_p.E172E	p.E1121E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3774	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1121					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3363G>A	CCDS8401.1																																																																																				0.657	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		10	144	0	0	0	1	0	10	144				
MEX3B	84206	broad.mit.edu	37	15	82335547	82335547	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:82335547G>C	ENST00000329713.4	-	2	2099	c.1664C>G	c.(1663-1665)cCg>cGg	p.P555R	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	555					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P555L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GTGGCAGACCGGGCACTCGGG	0.637																																						ENST00000329713.4																			1	Substitution - Missense(1)	p.P555L(1)	breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1663-1665)cCg>cGg		mex-3 RNA binding family member B							47.0	47.0	47.0					15																	82335547		2203	4300	6503	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335547G>C	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1664C>G	15.37:g.82335547G>C	ENSP00000329918:p.Pro555Arg					MEX3B_ENST00000558133.1_3'UTR	p.P555R	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	2099	-			555					Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.1664C>G	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834308	0.71373	.	.	ENSG00000183496	ENST00000329713	D	0.94613	-3.47	4.3	4.3	0.51218	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.142695	0.47093	D	0.000260	D	0.98460	0.9487	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99761	1.1021	10	0.87932	D	0	-26.3696	17.2971	0.87173	0.0:0.0:1.0:0.0	.	555	Q6ZN04	MEX3B_HUMAN	R	555	ENSP00000329918:P555R	ENSP00000329918:P555R	P	-	2	0	MEX3B	80122602	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.191000	0.94940	2.381000	0.81170	0.561000	0.74099	CCG		0.637	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		5	91	0	0	0	1	0	5	91				
ZNF570	148268	broad.mit.edu	37	19	37974971	37974971	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:37974971G>A	ENST00000330173.1	+	5	976	c.447G>A	c.(445-447)gaG>gaA	p.E149E	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Silent_p.E205E	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAGGAAGAGATAATCACTC	0.388																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(445-447)gaG>gaA		zinc finger protein 570							144.0	144.0	144.0					19																	37974971		2203	4300	6503	SO:0001819	synonymous_variant	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37974971G>A	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.447G>A	19.37:g.37974971G>A						ZNF570_ENST00000586475.1_Silent_p.E205E|ZNF570_ENST00000388801.3_5'UTR	p.E149E	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	976	+			149					A1L472|B4DMP1	Silent	SNP	ENST00000330173.1	37	c.447G>A	CCDS12504.1																																																																																				0.388	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		9	248	0	0	0	1	0	9	248				
PRAMEF2	65122	broad.mit.edu	37	1	12919781	12919781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12919781G>T	ENST00000240189.2	+	3	608	c.521G>T	c.(520-522)aGg>aTg	p.R174M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	174					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)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTACCAAAGGAGAGGTTTA	0.403																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(520-522)aGg>aTg		PRAME family member 2							133.0	148.0	143.0					1																	12919781		2202	4293	6495	SO:0001583	missense	65122							g.chr1:12919781G>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.521G>T	1.37:g.12919781G>T	ENSP00000240189:p.Arg174Met						p.R174M	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	608	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	174						Missense_Mutation	SNP	ENST00000240189.2	37	c.521G>T	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560640	0.27827	.	.	ENSG00000120952	ENST00000240189	T	0.00873	5.59	0.833	0.833	0.18875	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	M	0.93016	3.37	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.09143	-1.0688	10	0.72032	D	0.01	.	5.0256	0.14383	0.0:0.0:1.0:0.0	.	174	O60811	PRAM2_HUMAN	M	174	ENSP00000240189:R174M	ENSP00000240189:R174M	R	+	2	0	PRAMEF2	12842368	0.003000	0.15002	0.011000	0.14972	0.132000	0.20833	0.200000	0.17257	0.753000	0.32945	0.184000	0.17185	AGG		0.403	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		25	592	1	0	6.36457e-07	1	6.48127e-07	25	592				
PER1	5187	broad.mit.edu	37	17	8049698	8049698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:8049698G>A	ENST00000317276.4	-	16	2267	c.2030C>T	c.(2029-2031)aCc>aTc	p.T677I	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T657I|PER1_ENST00000354903.5_Missense_Mutation_p.T661I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	677	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTTTCTTGGTCCCCACAGA	0.592			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2029-2031)aCc>aTc	Other conserved DNA damage response genes	period circadian clock 1							118.0	128.0	125.0					17																	8049698		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049698G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2030C>T	17.37:g.8049698G>A	ENSP00000314420:p.Thr677Ile					PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Missense_Mutation_p.T661I|PER1_ENST00000581082.1_Missense_Mutation_p.T657I	p.T677I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			16	2267	-			677			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2030C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896274	0.33442	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.36520	2.64;1.25	5.13	4.14	0.48551	.	0.717068	0.13354	N	0.394175	T	0.23410	0.0566	N	0.24115	0.695	0.22851	N	0.998652	B;B	0.17038	0.016;0.02	B;B	0.15484	0.013;0.006	T	0.13710	-1.0499	10	0.45353	T	0.12	-1.5689	6.2775	0.20989	0.0999:0.0:0.7195:0.1806	.	661;677	B4DI49;O15534	.;PER1_HUMAN	I	677;661	ENSP00000314420:T677I;ENSP00000346979:T661I	ENSP00000314420:T677I	T	-	2	0	PER1	7990423	0.126000	0.22350	0.921000	0.36526	0.989000	0.77384	0.306000	0.19279	1.267000	0.44247	0.563000	0.77884	ACC		0.592	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			11	168	0	0	0	1	0	11	168				
PLCB4	5332	broad.mit.edu	37	20	9453970	9453970	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:9453970C>T	ENST00000378493.1	+	34	3432	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	PLCB4_ENST00000334005.3_Silent_p.V1139V|PLCB4_ENST00000278655.4_Silent_p.V1139V|PLCB4_ENST00000414679.2_Silent_p.V1151V|PLCB4_ENST00000378501.2_Silent_p.V1139V|PLCB4_ENST00000378473.3_Silent_p.V1151V|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1139					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAAAAAGTCCAGCTTGAAC	0.348																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3415-3417)gtC>gtT		phospholipase C, beta 4							64.0	63.0	63.0					20																	9453970		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9453970C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3417C>T	20.37:g.9453970C>T						PLCB4_ENST00000378493.1_Silent_p.V1139V|PLCB4_ENST00000414679.2_Silent_p.V1151V|PLCB4_ENST00000378473.3_Silent_p.V1151V|PLCB4_ENST00000334005.3_Silent_p.V1139V|PLCB4_ENST00000278655.4_Silent_p.V1139V|PLCB4_ENST00000492632.1_3'UTR	p.V1139V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			34	3432	+			1139					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.3417C>T	CCDS13105.1																																																																																				0.348	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			10	87	0	0	0	1	0	10	87				
FKBP8	23770	broad.mit.edu	37	19	18649037	18649037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18649037G>C	ENST00000596558.2	-	5	867	c.758C>G	c.(757-759)tCc>tGc	p.S253C	FKBP8_ENST00000222308.4_Missense_Mutation_p.S253C|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Missense_Mutation_p.S254C|FKBP8_ENST00000453489.2_Missense_Mutation_p.S282C|FKBP8_ENST00000608443.1_Missense_Mutation_p.S254C			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	253					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTTGGCGCTGGAGGTGATAGC	0.637																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(760-762)tCc>tGc		FK506 binding protein 8, 38kDa							71.0	65.0	67.0					19																	18649037		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649037G>C	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.758C>G	19.37:g.18649037G>C	ENSP00000472302:p.Ser253Cys					FKBP8_ENST00000222308.3_Missense_Mutation_p.S254C|FKBP8_ENST00000596558.1_Missense_Mutation_p.S253C|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.S282C	p.S254C			Q14318	FKBP8_HUMAN			5	881	-			253					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.761C>G		.	.	.	.	.	.	.	.	.	.	G	20.2	3.949739	0.73787	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.74632	-0.86;-0.86	3.9	3.9	0.45041	Elongated TPR repeat-containing domain (1);	0.124577	0.56097	D	0.000028	T	0.79464	0.4450	L	0.42245	1.32	0.80722	D	1	D;D;P;D	0.76494	0.997;0.994;0.717;0.999	P;P;B;D	0.64595	0.788;0.775;0.312;0.927	T	0.79047	-0.1963	10	0.38643	T	0.18	-20.7081	15.0549	0.71908	0.0:0.0:1.0:0.0	.	282;197;253;254	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	C	254;282	ENSP00000222308:S254C;ENSP00000388891:S282C	ENSP00000222308:S254C	S	-	2	0	FKBP8	18510037	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.017000	0.76399	2.018000	0.59344	0.561000	0.74099	TCC		0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		7	131	0	0	0	1	0	7	131				
LTBR	4055	broad.mit.edu	37	12	6499948	6499948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6499948C>T	ENST00000228918.4	+	10	1479	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	LTBR_ENST00000539925.1_Missense_Mutation_p.P366S|LTBR_ENST00000541102.1_Missense_Mutation_p.P242S	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	385					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCCGAACCTCCATACCCCAT	0.617																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1153-1155)Cca>Tca		lymphotoxin beta receptor (TNFR superfamily, member 3)							75.0	81.0	79.0					12																	6499948		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499948C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1153C>T	12.37:g.6499948C>T	ENSP00000228918:p.Pro385Ser					LTBR_ENST00000541102.1_Missense_Mutation_p.P242S|LTBR_ENST00000539925.1_Missense_Mutation_p.P366S	p.P385S	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			10	1479	+			385					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.1153C>T	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998485	0.54147	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	T;T;T	0.52057	0.68;0.68;0.68	4.49	4.49	0.54785	.	1.406890	0.04477	N	0.377175	T	0.62624	0.2443	L	0.34521	1.04	0.40218	D	0.977701	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.986	T	0.50338	-0.8840	10	0.87932	D	0	-6.8235	12.5421	0.56177	0.0:1.0:0.0:0.0	.	366;366;385	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	S	366;385;278;242	ENSP00000440875:P366S;ENSP00000228918:P385S;ENSP00000438605:P242S	ENSP00000228918:P385S	P	+	1	0	LTBR	6370209	0.997000	0.39634	1.000000	0.80357	0.135000	0.20990	2.112000	0.41892	2.333000	0.79357	0.555000	0.69702	CCA		0.617	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			9	186	0	0	0	1	0	9	186				
DNAH9	1770	broad.mit.edu	37	17	11522984	11522984	+	Silent	SNP	G	G	A	rs561526949		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:11522984G>A	ENST00000262442.4	+	6	1304	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	DNAH9_ENST00000454412.2_Silent_p.R412R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	412	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGACAGAAGGGAGAATCTCC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		20373	0.0		0.0	False		,,,				2504	0.001					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1234-1236)agG>agA		dynein, axonemal, heavy chain 9							151.0	148.0	149.0					17																	11522984		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522984G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1236G>A	17.37:g.11522984G>A						DNAH9_ENST00000454412.2_Silent_p.R412R|DNAH9_ENST00000579406.1_3'UTR	p.R412R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1304	+		Breast(5;0.0122)|all_epithelial(5;0.131)	412			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1236G>A	CCDS11160.1																																																																																				0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	180	0	0	0	1	0	19	180				
DTX3L	151636	broad.mit.edu	37	3	122288166	122288166	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:122288166T>C	ENST00000296161.4	+	3	1419	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	410					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCAAGGTTTCTGAGAAAGGTC	0.388																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1228-1230)tcT>tcC		deltex 3-like (Drosophila)							71.0	71.0	71.0					3																	122288166		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288166T>C		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1230T>C	3.37:g.122288166T>C						DTX3L_ENST00000383661.3_Intron	p.S410S	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1419	+			410					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1230T>C	CCDS3015.1																																																																																				0.388	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		8	167	0	0	0	1	0	8	167				
OR1J4	26219	broad.mit.edu	37	9	125281824	125281824	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125281824C>T	ENST00000340750.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACACCACTATCATGAAAGAGG	0.468																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(403-405)atC>atT		olfactory receptor, family 1, subfamily J, member 4							219.0	170.0	186.0					9																	125281824		2203	4300	6503	SO:0001819	synonymous_variant	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281824C>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.405C>T	9.37:g.125281824C>T							p.I135I	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	405	+			135					A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	c.405C>T	CCDS35122.1																																																																																				0.468	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			19	156	0	0	0	1	0	19	156				
HIRIP3	8479	broad.mit.edu	37	16	30006111	30006111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:30006111C>T	ENST00000279392.3	-	4	1185	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'UTR|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	119					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCTGCCACCCCATTCTTTGCT	0.587																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(355-357)Ggg>Agg		HIRA interacting protein 3							55.0	59.0	57.0					16																	30006111		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006111C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.355G>A	16.37:g.30006111C>T	ENSP00000279392:p.Gly119Arg					HIRIP3_ENST00000566471.1_5'UTR|HIRIP3_ENST00000564026.1_Intron	p.G119R	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1185	-			119					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.355G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345477	0.24426	.	.	ENSG00000149929	ENST00000279392	T	0.36157	1.27	4.25	-0.0111	0.13994	.	1.003230	0.08031	N	0.993614	T	0.23330	0.0564	L	0.38531	1.155	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.32348	-0.9910	10	0.08599	T	0.76	-3.3661	6.3366	0.21298	0.0:0.5408:0.0:0.4591	.	119	Q9BW71	HIRP3_HUMAN	R	119	ENSP00000279392:G119R	ENSP00000279392:G119R	G	-	1	0	HIRIP3	29913612	0.000000	0.05858	0.000000	0.03702	0.438000	0.31896	0.279000	0.18771	-0.054000	0.13266	0.591000	0.81541	GGG		0.587	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		8	128	0	0	0	1	0	8	128				
FGD3	89846	broad.mit.edu	37	9	95795139	95795139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:95795139C>T	ENST00000375482.3	+	16	2265	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	FGD3_ENST00000416701.2_Missense_Mutation_p.A590V|FGD3_ENST00000538555.1_Missense_Mutation_p.A193V|FGD3_ENST00000337352.6_Missense_Mutation_p.A590V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	590					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGCCAGTGGCCCCTGAGAGC	0.632																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1768-1770)gCc>gTc		FYVE, RhoGEF and PH domain containing 3							81.0	92.0	88.0					9																	95795139		2054	4191	6245	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95795139C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1769C>T	9.37:g.95795139C>T	ENSP00000364631:p.Ala590Val					FGD3_ENST00000538555.1_Missense_Mutation_p.A193V|FGD3_ENST00000337352.6_Missense_Mutation_p.A590V|FGD3_ENST00000416701.2_Missense_Mutation_p.A590V	p.A590V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			16	2265	+			590					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1769C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	4.130	0.022340	0.08006	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.54	-4.78	0.03209	Zinc finger, FYVE/PHD-type (1);	1.247690	0.06016	N	0.650421	T	0.49575	0.1565	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.32268	-0.9913	10	0.13853	T	0.58	.	3.1201	0.06388	0.1382:0.1631:0.1257:0.573	.	590;590	F8W7P2;Q5JSP0	.;FGD3_HUMAN	V	590;590;590;193	ENSP00000364631:A590V;ENSP00000413833:A590V;ENSP00000336914:A590V;ENSP00000442560:A193V	ENSP00000336914:A590V	A	+	2	0	FGD3	94834960	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.652000	0.05366	-0.778000	0.04566	-0.258000	0.10820	GCC		0.632	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		8	144	0	0	0	1	0	8	144				
MORN5	254956	broad.mit.edu	37	9	124929171	124929171	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:124929171T>A	ENST00000373764.3	+	2	234	c.172T>A	c.(172-174)Tgg>Agg	p.W58R	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000536616.1_Missense_Mutation_p.W58R	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	58										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CGACGCCATTTGGGAAAACGG	0.552																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(172-174)Tgg>Agg		MORN repeat containing 5							60.0	47.0	51.0					9																	124929171		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124929171T>A	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.172T>A	9.37:g.124929171T>A	ENSP00000362869:p.Trp58Arg					MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.W58R	p.W58R			Q5VZ52	MORN5_HUMAN			2	210	+			58					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.172T>A	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743036	0.49151	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.52295	0.67;0.67;0.67	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87810	0.2631	10	0.87932	D	0	-22.8513	12.3191	0.54975	0.0:0.0:0.0:1.0	.	42;58;58	Q5T7S4;B7Z7I5;Q5VZ52	.;.;MORN5_HUMAN	R	58;58;42	ENSP00000362869:W58R;ENSP00000437483:W58R;ENSP00000409949:W42R	ENSP00000362869:W58R	W	+	1	0	MORN5	123968992	1.000000	0.71417	0.908000	0.35775	0.030000	0.12068	7.056000	0.76662	1.802000	0.52723	0.379000	0.24179	TGG		0.552	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		4	34	0	0	0	1	0	4	34				
PLXDC1	57125	broad.mit.edu	37	17	37264408	37264408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37264408G>A	ENST00000315392.4	-	5	771	c.560C>T	c.(559-561)tCc>tTc	p.S187F	PLXDC1_ENST00000539608.1_Missense_Mutation_p.S114F|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S147F|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.S187F	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	187					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAGTTGTCGGAGTAGCCAGG	0.527																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(559-561)tCc>tTc		plexin domain containing 1							141.0	140.0	140.0					17																	37264408		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264408G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.560C>T	17.37:g.37264408G>A	ENSP00000323927:p.Ser187Phe					PLXDC1_ENST00000394316.2_Missense_Mutation_p.S187F|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S147F|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.S114F	p.S187F	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			5	771	-			187					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.560C>T	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287715	0.40494	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88987	0.3412	10	0.87932	D	0	-27.7176	18.4109	0.90550	0.0:0.0:1.0:0.0	.	187	Q8IUK5	PXDC1_HUMAN	F	187;114;114;147;187;114;114	ENSP00000323927:S187F;ENSP00000441881:S114F;ENSP00000409687:S147F;ENSP00000377851:S187F;ENSP00000393227:S114F;ENSP00000416819:S114F	ENSP00000323927:S187F	S	-	2	0	PLXDC1	34517934	1.000000	0.71417	0.963000	0.40424	0.426000	0.31534	9.543000	0.98089	2.688000	0.91661	0.655000	0.94253	TCC		0.527	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		13	175	0	0	0	1	0	13	175				
PKHD1L1	93035	broad.mit.edu	37	8	110477319	110477319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:110477319C>T	ENST00000378402.5	+	49	8362	c.8258C>T	c.(8257-8259)gCt>gTt	p.A2753V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2753					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)			AACTGTGTAGCTTTGGGAGTG	0.468										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(8257-8259)gCt>gTt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							148.0	147.0	147.0					8																	110477319		1924	4134	6058	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477319C>T	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.8258C>T	8.37:g.110477319C>T	ENSP00000367655:p.Ala2753Val	HNSCC(38;0.096)					p.A2753V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8362	+			2753					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8258C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308044	0.60305	.	.	ENSG00000205038	ENST00000378402	D	0.87103	-2.21	5.83	5.83	0.93111	.	0.061121	0.64402	D	0.000005	D	0.88299	0.6399	M	0.78637	2.42	0.31861	N	0.620975	P	0.41624	0.757	B	0.42771	0.397	D	0.91059	0.4884	10	0.59425	D	0.04	.	13.2295	0.59933	0.0:0.8405:0.1595:0.0	.	2753	Q86WI1	PKHL1_HUMAN	V	2753	ENSP00000367655:A2753V	ENSP00000367655:A2753V	A	+	2	0	PKHD1L1	110546495	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.366000	0.44204	2.757000	0.94681	0.563000	0.77884	GCT		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		21	157	0	0	0	1	0	21	157				
GKN2	200504	broad.mit.edu	37	2	69173532	69173532	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:69173532G>A	ENST00000328895.4	-	5	484	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	GKN2_ENST00000481498.1_Silent_p.L126L	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TCTTTGATCAGAGACTCCAGA	0.428																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(376-378)Ctg>Ttg		gastrokine 2							196.0	184.0	188.0					2																	69173532		2203	4300	6503	SO:0001819	synonymous_variant	200504					extracellular region		g.chr2:69173532G>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.376C>T	2.37:g.69173532G>A						GKN2_ENST00000328895.4_Silent_p.L126L	p.L126L			Q86XP6	GKN2_HUMAN			5	394	-			126			BRICHOS.		Q6UWS6	Silent	SNP	ENST00000328895.4	37	c.376C>T	CCDS33215.1																																																																																				0.428	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		12	224	0	0	0	1	0	12	224				
SEMG2	6407	broad.mit.edu	37	20	43850782	43850782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:43850782G>A	ENST00000372769.3	+	2	599	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGGTTCATGGACTAAGTAAA	0.423																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(508-510)gGa>gAa		semenogelin II							94.0	85.0	88.0					20																	43850782		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850782G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.509G>A	20.37:g.43850782G>A	ENSP00000361855:p.Gly170Glu						p.G170E	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	599	+		Myeloproliferative disorder(115;0.0122)	170			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.509G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009073	0.19199	.	.	ENSG00000124157	ENST00000372769	T	0.18960	2.18	0.559	-0.758	0.11049	.	.	.	.	.	T	0.39600	0.1084	M	0.76170	2.325	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	0.16778	-1.0391	8	0.52906	T	0.07	.	.	.	.	.	170;170;170	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	E	170	ENSP00000361855:G170E	ENSP00000361855:G170E	G	+	2	0	SEMG2	43284196	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	-0.315000	0.08703	-0.310000	0.09108	GGA		0.423	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		5	108	0	0	0	1	0	5	108				
ATP7A	538	broad.mit.edu	37	X	77286941	77286941	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:77286941G>A	ENST00000341514.6	+	16	3310	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974E|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55E	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTACTCACGGAACCCCAGTG	0.378																																						ENST00000341514.6																			2	Substitution - Missense(2)	p.G1052V(2)	lung(2)	breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3154-3156)gGa>gAa		ATPase, Cu++ transporting, alpha polypeptide							131.0	127.0	128.0					X																	77286941		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77286941G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3155G>A	X.37:g.77286941G>A	ENSP00000345728:p.Gly1052Glu					ATP7A_ENST00000343533.5_Missense_Mutation_p.G974E|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55E	p.G1052E	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			16	3310	+			1052					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3155G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726366	0.89298	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97505	-4.41;-4.41;-4.41	5.39	5.39	0.77823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99572	1.0971	10	0.87932	D	0	0.0882	18.0914	0.89476	0.0:0.0:1.0:0.0	.	1052	Q04656	ATP7A_HUMAN	E	974;55;1052	ENSP00000343026:G974E;ENSP00000343678:G55E;ENSP00000345728:G1052E	ENSP00000345728:G1052E	G	+	2	0	ATP7A	77173597	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.395000	0.81488	0.506000	0.49869	GGA		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		6	110	0	0	0	1	0	6	110				
INPP5D	3635	broad.mit.edu	37	2	234072372	234072372	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:234072372G>A	ENST00000359570.5	+	14	1224	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	INPP5D_ENST00000450745.1_Silent_p.K172K|INPP5D_ENST00000538935.1_Silent_p.K407K|INPP5D_ENST00000455936.2_Silent_p.K172K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	420					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCCTCCCAAGAAGATCACGT	0.542																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1222-1224)aaG>aaA		inositol polyphosphate-5-phosphatase, 145kDa							116.0	121.0	120.0					2																	234072372		2028	4170	6198	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072372G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1224G>A	2.37:g.234072372G>A						INPP5D_ENST00000538935.1_Silent_p.K407K|INPP5D_ENST00000455936.2_Silent_p.K172K|INPP5D_ENST00000450745.1_Silent_p.K172K	p.K408K			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1224	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	420					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.1224G>A																																																																																					0.542	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		6	162	0	0	0	1	0	6	162				
NIT2	56954	broad.mit.edu	37	3	100057967	100057967	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:100057967C>T	ENST00000394140.4	+	2	135	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	15	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGATTTCTTCCATCAAATCA	0.488																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(43-45)tCc>tTc		nitrilase family, member 2							161.0	161.0	161.0					3																	100057967		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100057967C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.44C>T	3.37:g.100057967C>T	ENSP00000377696:p.Ser15Phe						p.S15F	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			2	135	+			15			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.44C>T	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866038	0.71949	.	.	ENSG00000114021	ENST00000394140	D	0.85861	-2.04	5.21	5.21	0.72293	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.295098	0.42294	D	0.000739	D	0.88837	0.6545	L	0.55103	1.725	0.33303	D	0.565148	B;P	0.41450	0.043;0.75	B;P	0.51742	0.235;0.678	D	0.92082	0.5673	10	0.66056	D	0.02	2.6287	19.112	0.93319	0.0:1.0:0.0:0.0	.	15;15	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	F	15	ENSP00000377696:S15F	ENSP00000377696:S15F	S	+	2	0	NIT2	101540657	0.962000	0.33011	0.971000	0.41717	0.573000	0.36030	2.969000	0.49232	2.594000	0.87642	0.484000	0.47621	TCC		0.488	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		16	244	0	0	0	1	0	16	244				
ZNF473	25888	broad.mit.edu	37	19	50548345	50548345	+	Silent	SNP	G	G	A	rs145882419	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:50548345G>A	ENST00000595661.1	+	6	1140	c.645G>A	c.(643-645)ggG>ggA	p.G215G	ZNF473_ENST00000391821.2_Silent_p.G215G|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Silent_p.G215G|ZNF473_ENST00000445728.3_Silent_p.G203G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	215					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAATGTGGGAAAAGCTTCA	0.478													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0					ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(643-645)ggG>ggA		zinc finger protein 473		G	,	5,4401	9.9+/-24.2	0,5,2198	93.0	78.0	83.0		645,645	-1.8	0.0	19	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	215/872,215/872	50548345	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548345G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.645G>A	19.37:g.50548345G>A						ZNF473_ENST00000391821.2_Silent_p.G215G|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.G203G|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.G215G	p.G215G			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1140	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	215					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.645G>A	CCDS33077.1																																																																																				0.478	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		6	114	0	0	0	1	0	6	114				
UBXN11	91544	broad.mit.edu	37	1	26610677	26610677	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:26610677C>T	ENST00000374222.1	-	13	1497	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	UBXN11_ENST00000374221.3_Missense_Mutation_p.G345S|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312S|UBXN11_ENST00000314675.7_Missense_Mutation_p.G225S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312S			Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATCACCTCGCCTTGCCGGATC	0.592																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(673-675)Ggc>Agc		UBX domain protein 11							117.0	124.0	122.0					1																	26610677		1890	4104	5994	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26610677C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1033G>A	1.37:g.26610677C>T	ENSP00000363339:p.Gly345Ser					UBXN11_ENST00000374221.3_Missense_Mutation_p.G345S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312S|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102S|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345S	p.G225S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			8	752	-			345					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.673G>A	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088809	0.94100	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.32753	1.44;1.44;1.61;1.48;1.48;1.61	5.01	5.01	0.66863	.	0.161726	0.56097	D	0.000035	T	0.57080	0.2029	M	0.73962	2.25	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.954	D;D;D;P	0.97110	0.971;1.0;1.0;0.554	T	0.60905	-0.7170	10	0.59425	D	0.04	-13.227	17.0848	0.86608	0.0:1.0:0.0:0.0	.	312;307;225;345	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	225;102;312;345;345;312	ENSP00000324721:G225S;ENSP00000363340:G102S;ENSP00000349601:G312S;ENSP00000363338:G345S;ENSP00000363339:G345S;ENSP00000363334:G312S	ENSP00000324721:G225S	G	-	1	0	UBXN11	26483264	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.360000	0.73064	2.340000	0.79590	0.491000	0.48974	GGC		0.592	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		11	186	0	0	0	1	0	11	186				
EFCAB5	374786	broad.mit.edu	37	17	28409990	28409990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:28409990G>A	ENST00000394835.3	+	18	3700	c.3508G>A	c.(3508-3510)Ggc>Agc	p.G1170S	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.G1046S	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1170							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACTGGCATAGGCTGGCTTTA	0.498																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3508-3510)Ggc>Agc		EF-hand calcium binding domain 5							160.0	142.0	148.0					17																	28409990		2089	4224	6313	SO:0001583	missense	374786						calcium ion binding	g.chr17:28409990G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3508G>A	17.37:g.28409990G>A	ENSP00000378312:p.Gly1170Ser					EFCAB5_ENST00000320856.5_Missense_Mutation_p.G1046S|EFCAB5_ENST00000394832.2_Intron	p.G1170S	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			18	3700	+			1170					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3508G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076658	0.36662	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.08458	3.09;3.09;3.1	5.32	-0.528	0.11905	.	0.758451	0.11908	N	0.517953	T	0.07369	0.0186	L	0.46157	1.445	0.37934	D	0.932096	B;B	0.27351	0.154;0.176	B;B	0.31751	0.135;0.116	T	0.34403	-0.9830	10	0.20519	T	0.43	-2.729	4.8966	0.13753	0.3492:0.1435:0.5073:0.0	.	1046;1170	E7EVS9;A4FU69	.;EFCB5_HUMAN	S	1170;1046;852	ENSP00000378312:G1170S;ENSP00000322003:G1046S;ENSP00000417009:G852S	ENSP00000322003:G1046S	G	+	1	0	EFCAB5	25434116	0.161000	0.22892	0.500000	0.27589	0.786000	0.44442	0.397000	0.20883	-0.306000	0.08818	0.591000	0.81541	GGC		0.498	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		5	80	0	0	0	1	0	5	80				
IER3	8870	broad.mit.edu	37	6	30709056	30709056	+	IGR	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30709056G>A	ENST00000259874.5	-	0	1244				FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000376389.3_Silent_p.L89L|FLOT1_ENST00000456573.2_Intron|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GTCTTCCCCAGGAACATCTGA	0.582																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(265-267)Ctg>Ttg		flotillin 1							116.0	130.0	125.0					6																	30709056		1510	2707	4217	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30709056G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30709056G>A						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Intron	p.L89L	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			5	485	-			89					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.265C>T	CCDS4689.1																																																																																				0.582	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			9	138	0	0	0	1	0	9	138				
B4GALNT4	338707	broad.mit.edu	37	11	375641	375641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:375641G>A	ENST00000329962.6	+	10	853	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	285					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCCAGATGAGTCAGCCTT	0.662																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(853-855)Gag>Aag		beta-1,4-N-acetyl-galactosaminyl transferase 4							48.0	50.0	49.0					11																	375641		2198	4294	6492	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375641G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.853G>A	11.37:g.375641G>A	ENSP00000328277:p.Glu285Lys						p.E285K	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	853	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	285					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.853G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	18.82	3.705168	0.68615	.	.	ENSG00000182272	ENST00000329962	T	0.75589	-0.95	3.22	3.22	0.36961	.	0.207947	0.38548	N	0.001651	D	0.84042	0.5385	M	0.71206	2.165	0.58432	D	0.99999	D	0.63880	0.993	D	0.72625	0.978	D	0.86114	0.1564	10	0.56958	D	0.05	-27.3226	14.9442	0.71016	0.0:0.0:1.0:0.0	.	285	Q76KP1	B4GN4_HUMAN	K	285	ENSP00000328277:E285K	ENSP00000328277:E285K	E	+	1	0	B4GALNT4	365641	1.000000	0.71417	0.977000	0.42913	0.761000	0.43186	9.109000	0.94291	1.794000	0.52575	0.491000	0.48974	GAG		0.662	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		5	85	0	0	0	1	0	5	85				
TAF4	6874	broad.mit.edu	37	20	60575778	60575778	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:60575778C>T	ENST00000252996.4	-	10	2486		c.e10-1			NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATCATCGTCCCTTGAGGAAAG	0.498																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.e10-1		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							100.0	94.0	96.0					20																	60575778		2203	4300	6503	SO:0001630	splice_region_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575778C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2487-1G>A	20.37:g.60575778C>T						TAF4_ENST00000488539.1_Splice_Site		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		10	2486	-	Breast(26;1e-08)							A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Splice_Site	SNP	ENST00000252996.4	37		CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045055	0.55110	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1348	0.89616	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF4	60009173	1.000000	0.71417	0.997000	0.53966	0.463000	0.32649	7.503000	0.81632	2.266000	0.75297	0.561000	0.74099	.		0.498	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	Intron	6	77	0	0	0	1	0	6	77				
LATS2	26524	broad.mit.edu	37	13	21565493	21565493	+	Silent	SNP	G	G	A	rs569358463		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:21565493G>A	ENST00000382592.4	-	3	798	c.393C>T	c.(391-393)gcC>gcT	p.A131A	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.A131A	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTCCAGGGCGGCCTCGATGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20432	0.0		0.0	False		,,,				2504	0.001					ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(391-393)gcC>gcT		large tumor suppressor kinase 2							88.0	68.0	74.0					13																	21565493		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21565493G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.393C>T	13.37:g.21565493G>A						LATS2_ENST00000542899.1_Silent_p.A131A|LATS2_ENST00000472754.1_5'UTR	p.A131A	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	798	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	131			UBA.			Silent	SNP	ENST00000382592.4	37	c.393C>T	CCDS9294.1																																																																																				0.577	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			7	62	0	0	0	1	0	7	62				
PCDH1	5097	broad.mit.edu	37	5	141248194	141248194	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:141248194C>T	ENST00000394536.3	-	2	982	c.843G>A	c.(841-843)gaG>gaA	p.E281E	PCDH1_ENST00000287008.3_Silent_p.E281E|PCDH1_ENST00000503492.1_Silent_p.E281E|PCDH1_ENST00000536585.1_Silent_p.E259E|PCDH1_ENST00000456271.1_Silent_p.E269E|PCDH1_ENST00000511044.1_5'Flank	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGGAGGGCCGCTCAAACTTGG	0.617																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(841-843)gaG>gaA		protocadherin 1							40.0	41.0	41.0					5																	141248194		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248194C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.843G>A	5.37:g.141248194C>T						PCDH1_ENST00000536585.1_Silent_p.E259E|PCDH1_ENST00000456271.1_Silent_p.E269E|PCDH1_ENST00000503492.1_Silent_p.E281E|PCDH1_ENST00000394536.3_Silent_p.E281E	p.E281E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	990	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	281			Cadherin 3.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.843G>A	CCDS43375.1																																																																																				0.617	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		5	60	0	0	0	1	0	5	60				
FAM72A	729533	broad.mit.edu	37	1	206145508	206145508	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:206145508C>T	ENST00000367128.3	+	3	1133	c.285C>T	c.(283-285)tcC>tcT	p.S95S	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Silent_p.S95S|FAM72A_ENST00000341209.5_Silent_p.S55S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	95						mitochondrion (GO:0005739)				endometrium(2)	2						GTCTTCTTTCCTGCAACAACG	0.388																																						ENST00000367128.3																			0				endometrium(2)	2						c.(283-285)tcC>tcT		family with sequence similarity 72, member A							244.0	204.0	216.0					1																	206145508		1568	3578	5146	SO:0001819	synonymous_variant	729533							g.chr1:206145508C>T	CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.285C>T	1.37:g.206145508C>T						FAM72A_ENST00000341209.5_Silent_p.S55S|FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Silent_p.S95S	p.S95S			Q5TYM5	FA72A_HUMAN			3	1133	+			95					B2RV15|Q5TYM4	Silent	SNP	ENST00000367128.3	37	c.285C>T	CCDS41458.1																																																																																				0.388	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100825.1			21	426	0	0	0	1	0	21	426				
XPO7	23039	broad.mit.edu	37	8	21857053	21857053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:21857053C>T	ENST00000252512.9	+	24	2750	c.2650C>T	c.(2650-2652)Ccc>Tcc	p.P884S	XPO7_ENST00000433566.4_Missense_Mutation_p.P885S|XPO7_ENST00000434536.1_Missense_Mutation_p.P893S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACAGGATTACCCCAAGCTCAG	0.458																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2677-2679)Ccc>Tcc		exportin 7							149.0	144.0	145.0					8																	21857053		1944	4146	6090	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21857053C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2650C>T	8.37:g.21857053C>T	ENSP00000252512:p.Pro884Ser					XPO7_ENST00000433566.4_Missense_Mutation_p.P885S|XPO7_ENST00000252512.9_Missense_Mutation_p.P884S	p.P893S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	24	2779	+			884					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2677C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780806	0.90195	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.64803	-0.12;-0.12;-0.12	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.85859	2.78	0.80722	D	1	P;B;P	0.45768	0.866;0.386;0.529	B;B;B	0.42555	0.391;0.21;0.285	T	0.75144	-0.3421	10	0.46703	T	0.11	-16.5171	19.5646	0.95388	0.0:1.0:0.0:0.0	.	885;893;884	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	893;884;885	ENSP00000404853:P893S;ENSP00000252512:P884S;ENSP00000410249:P885S	ENSP00000252512:P884S	P	+	1	0	XPO7	21912999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.721000	0.93114	0.655000	0.94253	CCC		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		7	164	0	0	0	1	0	7	164				
EFCAB12	90288	broad.mit.edu	37	3	129140501	129140501	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129140501C>T	ENST00000505956.1	-	2	357	c.195G>A	c.(193-195)aaG>aaA	p.K65K	EFCAB12_ENST00000326085.3_Silent_p.K65K	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	65							calcium ion binding (GO:0005509)										TCTGATCCTCCTTGCGAGGCA	0.562																																						ENST00000505956.1																			0											c.(193-195)aaG>aaA		EF-hand calcium binding domain 12							59.0	59.0	59.0					3																	129140501		1951	4148	6099	SO:0001819	synonymous_variant	90288							g.chr3:129140501C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.195G>A	3.37:g.129140501C>T						EFCAB12_ENST00000326085.3_Silent_p.K65K	p.K65K	NM_207307.1	NP_997190.1					2	357	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.195G>A	CCDS54638.1																																																																																				0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		7	58	0	0	0	1	0	7	58				
FCAR	2204	broad.mit.edu	37	19	55399706	55399706	+	Intron	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55399706G>A	ENST00000355524.3	+	4	659				FCAR_ENST00000391725.3_Intron|FCAR_ENST00000359272.4_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.G232R|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for						immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGGCTGTCCAGGGCCTTGCCA	0.587																																						ENST00000469767.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(694-696)Ggg>Agg		Fc fragment of IgA, receptor for							42.0	38.0	40.0					19																	55399706		2203	4300	6503	SO:0001627	intron_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399706G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.649+45G>A	19.37:g.55399706G>A						FCAR_ENST00000355524.3_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron	p.G232R	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	704	+			0					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.694G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	8.816	0.936298	0.18206	.	.	ENSG00000186431	ENST00000433231	.	.	.	2.28	-0.135	0.13477	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	1	P	0.38800	0.648	B	0.26969	0.075	T	0.17319	-1.0373	7	0.72032	D	0.01	.	2.6525	0.05003	0.1715:0.0:0.5481:0.2804	.	232	P24071-4	.	R	232	.	ENSP00000403072:G232R	G	+	1	0	FCAR	60091518	0.016000	0.18221	0.001000	0.08648	0.052000	0.14988	0.044000	0.13992	0.042000	0.15717	0.467000	0.42956	GGG		0.587	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		4	25	0	0	0	1	0	4	25				
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:55863612C>T	ENST00000388975.3	-	10	1409	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	431					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(1291-1293)aaG>aaA		septin 14							78.0	93.0	88.0					7																	55863612		1367	2320	3687	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55863612C>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1293G>A	7.37:g.55863612C>T							p.K431K	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1409	-	Breast(14;0.214)		431					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.1293G>A	CCDS5519.2																																																																																				0.373	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		9	86	0	0	0	1	0	9	86				
ZNF804A	91752	broad.mit.edu	37	2	185801657	185801657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:185801657G>A	ENST00000302277.6	+	4	2128	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	512							metal ion binding (GO:0046872)	p.E512K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTGATTATGAAATTGGAAG	0.388																																						ENST00000302277.6																			1	Substitution - Missense(1)	p.E512K(1)	NS(1)	NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1534-1536)Gaa>Aaa		zinc finger protein 804A							90.0	95.0	93.0					2																	185801657		2187	4292	6479	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801657G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1534G>A	2.37:g.185801657G>A	ENSP00000303252:p.Glu512Lys						p.E512K	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2128	+			512					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1534G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588109	0.28268	.	.	ENSG00000170396	ENST00000302277	T	0.07114	3.22	5.55	4.67	0.58626	.	0.512435	0.19295	N	0.117791	T	0.09686	0.0238	L	0.48642	1.525	0.34626	D	0.719122	B	0.27498	0.18	B	0.24541	0.054	T	0.07347	-1.0777	10	0.72032	D	0.01	-8.404	11.9107	0.52737	0.0804:0.0:0.9196:0.0	.	512	Q7Z570	Z804A_HUMAN	K	512	ENSP00000303252:E512K	ENSP00000303252:E512K	E	+	1	0	ZNF804A	185509902	0.953000	0.32496	0.197000	0.23402	0.093000	0.18481	1.728000	0.38105	1.353000	0.45828	0.557000	0.71058	GAA		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		9	157	0	0	0	1	0	9	157				
TENM2	57451	broad.mit.edu	37	5	167673973	167673973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:167673973C>T	ENST00000518659.1	+	27	6068	c.6029C>T	c.(6028-6030)tCc>tTc	p.S2010F	TENM2_ENST00000519204.1_Missense_Mutation_p.S1889F|TENM2_ENST00000545108.1_Missense_Mutation_p.S2009F|TENM2_ENST00000403607.2_Missense_Mutation_p.S1834F|TENM2_ENST00000520394.1_Missense_Mutation_p.S1771F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2010					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGAAGACCTCCTTTTTGGGC	0.507																																						ENST00000519204.1																			0											c.(5665-5667)tCc>tTc		teneurin transmembrane protein 2							80.0	80.0	80.0					5																	167673973		1941	4142	6083	SO:0001583	missense	57451							g.chr5:167673973C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6029C>T	5.37:g.167673973C>T	ENSP00000429430:p.Ser2010Phe					TENM2_ENST00000403607.2_Missense_Mutation_p.S1834F|TENM2_ENST00000520394.1_Missense_Mutation_p.S1771F|TENM2_ENST00000518659.1_Missense_Mutation_p.S2010F|TENM2_ENST00000545108.1_Missense_Mutation_p.S2009F	p.S1889F							26	5784	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5666C>T		.	.	.	.	.	.	.	.	.	.	C	0.502	-0.870475	0.02570	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89123	-2.0;-1.99;-2.1;-2.46;-2.47	5.44	4.54	0.55810	.	0.377736	0.33938	N	0.004405	T	0.72170	0.3427	N	0.02011	-0.69	0.44789	D	0.997796	B;B;B	0.13145	0.007;0.004;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.66897	-0.5807	10	0.09084	T	0.74	.	15.1472	0.72667	0.1424:0.8575:0.0:0.0	.	2009;2010;1771	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	2010;2009;1889;1771;1834	ENSP00000429430:S2010F;ENSP00000438635:S2009F;ENSP00000428964:S1889F;ENSP00000427874:S1771F;ENSP00000384905:S1834F	ENSP00000384905:S1834F	S	+	2	0	ODZ2	167606551	0.996000	0.38824	0.526000	0.27913	0.939000	0.58152	3.401000	0.52601	1.229000	0.43630	0.561000	0.74099	TCC		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	127	0	0	0	1	0	6	127				
ACVR1B	91	broad.mit.edu	37	12	52370217	52370217	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:52370217C>T	ENST00000257963.4	+	3	515	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ACVR1B_ENST00000542485.1_Silent_p.F94F|ACVR1B_ENST00000415850.2_Silent_p.F146F|ACVR1B_ENST00000541224.1_Silent_p.F146F|ACVR1B_ENST00000426655.2_Silent_p.F146F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	146			F -> L (in dbSNP:rs34488074). {ECO:0000269|PubMed:17344846}.		activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATTGTTTTCCTTGTCATTA	0.537																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(436-438)ttC>ttT		activin A receptor, type IB	Adenosine triphosphate(DB00171)						194.0	183.0	187.0					12																	52370217		2203	4300	6503	SO:0001819	synonymous_variant	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52370217C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.438C>T	12.37:g.52370217C>T						ACVR1B_ENST00000542485.1_Silent_p.F94F|ACVR1B_ENST00000426655.2_Silent_p.F146F|ACVR1B_ENST00000541224.1_Silent_p.F146F|ACVR1B_ENST00000415850.2_Silent_p.F146F	p.F146F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	3	515	+			146		F -> L (in dbSNP:rs34488074).			B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Silent	SNP	ENST00000257963.4	37	c.438C>T	CCDS8816.1																																																																																				0.537	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		7	128	0	0	0	1	0	7	128				
LRRIQ1	84125	broad.mit.edu	37	12	85450831	85450831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:85450831G>A	ENST00000393217.2	+	8	2321	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	754										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTTGGCTTGAAATTTTCAA	0.378																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2260-2262)Gaa>Aaa		leucine-rich repeats and IQ motif containing 1							144.0	164.0	157.0					12																	85450831		2203	4298	6501	SO:0001583	missense	84125							g.chr12:85450831G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2260G>A	12.37:g.85450831G>A	ENSP00000376910:p.Glu754Lys						p.E754K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2321	+			754					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2260G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241627	0.22711	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.49139	0.79	5.56	3.71	0.42584	.	0.255197	0.35378	N	0.003260	T	0.26011	0.0634	N	0.24115	0.695	0.30827	N	0.73713	B;B	0.24426	0.087;0.103	B;B	0.20767	0.018;0.031	T	0.18713	-1.0328	10	0.09338	T	0.73	.	5.9648	0.19318	0.3049:0.0:0.6951:0.0	.	754;729	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	754;729;754	ENSP00000376910:E754K	ENSP00000256007:E754K	E	+	1	0	LRRIQ1	83974962	1.000000	0.71417	0.941000	0.38009	0.902000	0.53008	3.027000	0.49697	1.322000	0.45245	0.591000	0.81541	GAA		0.378	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		22	445	0	0	0	1	0	22	445				
HEATR1	55127	broad.mit.edu	37	1	236718729	236718729	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:236718729C>T	ENST00000366582.3	-	41	5904	c.5790G>A	c.(5788-5790)aaG>aaA	p.K1930K	HEATR1_ENST00000366581.2_Silent_p.K1849K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1930					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAACCTGTCCTTTGGGGCAT	0.413																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5788-5790)aaG>aaA		HEAT repeat containing 1							96.0	94.0	95.0					1																	236718729		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236718729C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5790G>A	1.37:g.236718729C>T						HEATR1_ENST00000366581.2_Silent_p.K1849K	p.K1930K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		41	5904	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1930					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.5790G>A	CCDS31066.1																																																																																				0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		16	150	0	0	0	1	0	16	150				
CCDC28A	25901	broad.mit.edu	37	6	139094866	139094866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:139094866C>T	ENST00000332797.6	+	1	210	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	19										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGCGGGGCTTCCGCTTGGGGC	0.627																																						ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(55-57)Ccg>Tcg		coiled-coil domain containing 28A							86.0	100.0	96.0					6																	139094866		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139094866C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.55C>T	6.37:g.139094866C>T	ENSP00000332716:p.Pro19Ser						p.P19S	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	210	+			19					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.55C>T	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805383	0.50315	.	.	ENSG00000024862	ENST00000332797	T	0.21932	1.98	5.35	-0.586	0.11694	.	1.942620	0.03297	N	0.188432	T	0.06050	0.0157	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.36720	-0.9736	10	0.44086	T	0.13	-0.3404	5.8915	0.18915	0.0:0.3522:0.4292:0.2187	.	19	Q8IWP9	CC28A_HUMAN	S	19	ENSP00000332716:P19S	ENSP00000332716:P19S	P	+	1	0	CCDC28A	139136559	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.623000	0.05546	-0.044000	0.13491	0.655000	0.94253	CCG		0.627	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		16	225	0	0	0	1	0	16	225				
ZNF384	171017	broad.mit.edu	37	12	6777001	6777001	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6777001G>A	ENST00000396801.3	-	11	1820	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	ZNF384_ENST00000355772.4_Missense_Mutation_p.P422L|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538L|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477L|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461L|ZNF384_ENST00000396795.1_Missense_Mutation_p.P477L|RP4-761J14.8_ENST00000586338.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	538					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGAGGGTTGGGATTGCTGTC	0.622			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1429-1431)cCc>cTc		zinc finger protein 384							94.0	94.0	94.0					12																	6777001		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6777001G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1613C>T	12.37:g.6777001G>A	ENSP00000380019:p.Pro538Leu					RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538L|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538L|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422L|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477L|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461L	p.P477L			Q8TF68	ZN384_HUMAN			9	1927	-			538			Ala-rich.|Gln-rich.		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1430C>T	CCDS44817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.776772|3.776772	0.70107|0.70107	.|.	.|.	ENSG00000219410|ENSG00000126746	ENST00000407384|ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	.|T;T;T;T;T;T	.|0.08458	.|3.19;3.17;3.09;3.09;3.2;3.17	5.62|5.62	4.72|4.72	0.59763|0.59763	.|.	.|0.316936	.|0.33180	.|N	.|0.005197	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.19112|0.19112	0.55|0.55	0.48087|0.48087	D|D	0.999586|0.999586	.|B;B;B;B	.|0.16396	.|0.0;0.004;0.004;0.017	.|B;B;B;B	.|0.10450	.|0.001;0.005;0.003;0.005	T|T	0.22068|0.22068	-1.0227|-1.0227	6|10	0.87932|0.72032	D|D	0|0.01	-9.8923|-9.8923	9.5414|9.5414	0.39255|0.39255	0.0713:0.0:0.7859:0.1429|0.0713:0.0:0.7859:0.1429	.|.	.|538;422;461;477	.|Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	.|ZN384_HUMAN;.;.;.	E|L	102|461;477;538;538;422;477	.|ENSP00000321650:P461L;ENSP00000380013:P477L;ENSP00000380019:P538L;ENSP00000354592:P538L;ENSP00000348018:P422L;ENSP00000380017:P477L	ENSP00000384049:G102E|ENSP00000321650:P461L	G|P	+|-	2|2	0|0	AC125494.1|ZNF384	6647262|6647262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.043000|3.043000	0.49823|0.49823	1.347000|1.347000	0.45714|0.45714	0.591000|0.591000	0.81541|0.81541	GGG|CCC		0.622	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			11	195	0	0	0	1	0	11	195				
MPO	4353	broad.mit.edu	37	17	56350966	56350966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:56350966G>A	ENST00000225275.3	-	9	1606	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.P509L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	477					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACGGTACGTGGGCAGGTACTT	0.562																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1525-1527)cCc>cTc		myeloperoxidase	Cefdinir(DB00535)						263.0	204.0	224.0					17																	56350966		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350966G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1430C>T	17.37:g.56350966G>A	ENSP00000225275:p.Pro477Leu					MPO_ENST00000225275.3_Missense_Mutation_p.P477L	p.P509L			P05164	PERM_HUMAN			8	1702	-			477					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1526C>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551623	0.45487	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75154	-0.91;-0.91	4.27	3.29	0.37713	.	0.172472	0.52532	D	0.000071	T	0.76097	0.3940	M	0.74467	2.265	0.54753	D	0.99998	P	0.50156	0.932	P	0.45794	0.493	T	0.78876	-0.2031	10	0.56958	D	0.05	-29.4152	13.2143	0.59849	0.0:0.1609:0.8391:0.0	.	477	P05164	PERM_HUMAN	L	509;477	ENSP00000344419:P509L;ENSP00000225275:P477L	ENSP00000225275:P477L	P	-	2	0	MPO	53705965	0.997000	0.39634	0.866000	0.34008	0.928000	0.56348	3.754000	0.55189	0.995000	0.38917	0.561000	0.74099	CCC		0.562	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			7	196	0	0	0	1	0	7	196				
PLAG1	5324	broad.mit.edu	37	8	57079617	57079617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57079617G>A	ENST00000316981.3	-	5	1167	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PLAG1_ENST00000429357.2_Nonsense_Mutation_p.R230*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.R148*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCATATGTCGAGTCAGGTGA	0.463			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(688-690)Cga>Tga		pleiomorphic adenoma gene 1							141.0	129.0	133.0					8																	57079617		2203	4300	6503	SO:0001587	stop_gained	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079617G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.688C>T	8.37:g.57079617G>A	ENSP00000325546:p.Arg230*					PLAG1_ENST00000429357.2_Nonsense_Mutation_p.R230*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.R148*	p.R230*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1167	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	230			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Nonsense_Mutation	SNP	ENST00000316981.3	37	c.688C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630553	0.96682	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	.	.	.	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1157	16.0362	0.80631	0.0:0.0:0.8646:0.1354	.	.	.	.	X	230;148;230	.	ENSP00000325546:R230X	R	-	1	2	PLAG1	57242171	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.863000	0.87023	1.365000	0.46057	0.585000	0.79938	CGA		0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		22	144	0	0	0	1	0	22	144				
IGF1R	3480	broad.mit.edu	37	15	99251266	99251266	+	Silent	SNP	G	G	A	rs17847210	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:99251266G>A	ENST00000268035.6	+	2	1181	c.570G>A	c.(568-570)ccG>ccA	p.P190P	IGF1R_ENST00000558762.1_Silent_p.P190P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	190					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGGAGAAGCCGATGTGTGAGA	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20497	0.0		0.0	False		,,,				2504	0.0					ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(568-570)ccG>ccA		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	G		4,4390	8.1+/-20.4	0,4,2193	122.0	109.0	113.0		570	-10.7	0.0	15	dbSNP_123	113	0,8594		0,0,4297	no	coding-synonymous	IGF1R	NM_000875.3		0,4,6490	AA,AG,GG		0.0,0.091,0.0308		190/1368	99251266	4,12984	2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251266G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.570G>A	15.37:g.99251266G>A						IGF1R_ENST00000558762.1_Silent_p.P190P	p.P190P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1181	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		190					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.570G>A	CCDS10378.1																																																																																				0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		8	144	0	0	0	1	0	8	144				
HLA-DQB2	3120	broad.mit.edu	37	6	32726803	32726803	+	Missense_Mutation	SNP	C	C	T	rs1049110	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:32726803C>T	ENST00000437316.2	-	3	533	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R157Q			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	161	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCGAAACCACCGGACTTTGAT	0.547																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(469-471)cGg>cAg		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726803C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.470G>A	6.37:g.32726803C>T	ENSP00000396330:p.Arg157Gln					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R157Q	p.R157Q			Q5SR06	Q5SR06_HUMAN			3	531	-			157					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.470G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.106|9.106	1.005354|1.005354	0.19199|0.19199	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000427449|ENST00000437316;ENST00000435145;ENST00000411527	.|T;T;T	.|0.02709	.|4.19;4.19;4.19	3.43|3.43	-2.23|-2.23	0.06930|0.06930	.|.	.|1.315740	.|0.05325	.|N	.|0.527239	T|T	0.01029|0.01029	0.0034|0.0034	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	P|P	0.0|0.0	.|B;P	.|0.39282	.|0.227;0.666	.|B;B	.|0.24974	.|0.021;0.057	T|T	0.45629|0.45629	-0.9248|-0.9248	4|9	.|0.66056	.|D	.|0.02	.|.	4.6583|4.6583	0.12630|0.12630	0.0:0.2967:0.2518:0.4515|0.0:0.2967:0.2518:0.4515	rs1049110;rs3189204;rs3213482;rs17840145;rs17853002;rs34594032;rs58630299;rs1049110|rs1049110;rs3189204;rs3213482;rs17840145;rs17853002;rs34594032;rs58630299;rs1049110	.|157;157	.|A2ADX3;Q5SR06	.|.;.	S|Q	156|157	.|ENSP00000396330:R157Q;ENSP00000410512:R157Q;ENSP00000390431:R157Q	.|ENSP00000390431:R157Q	G|R	-|-	1|2	0|0	HLA-DQB2|HLA-DQB2	32834781|32834781	0.000000|0.000000	0.05858|0.05858	0.721000|0.721000	0.30653|0.30653	0.360000|0.360000	0.29518|0.29518	-0.503000|-0.503000	0.06383|0.06383	-0.273000|-0.273000	0.09246|0.09246	-1.174000|-1.174000	0.01732|0.01732	GGT|CGG		0.547	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	70	0	0	0	1	0	4	70				
ARHGEF17	9828	broad.mit.edu	37	11	73020471	73020471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:73020471G>A	ENST00000263674.3	+	1	1138	c.788G>A	c.(787-789)gGa>gAa	p.G263E	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	263					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCTGGAGCCCAGAGT	0.721																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(787-789)gGa>gAa		Rho guanine nucleotide exchange factor (GEF) 17							10.0	14.0	13.0					11																	73020471		2087	4112	6199	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020471G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.788G>A	11.37:g.73020471G>A	ENSP00000263674:p.Gly263Glu						p.G263E	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1138	+			263					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.788G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571389	0.28003	.	.	ENSG00000110237	ENST00000263674	T	0.63913	-0.07	4.85	2.8	0.32819	.	0.445825	0.16707	N	0.202865	T	0.46541	0.1398	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.20767	0.031	T	0.45731	-0.9241	10	0.72032	D	0.01	-19.5376	8.9328	0.35682	0.0:0.2514:0.6118:0.1368	.	263	Q96PE2	ARHGH_HUMAN	E	263	ENSP00000263674:G263E	ENSP00000263674:G263E	G	+	2	0	ARHGEF17	72698119	0.151000	0.22747	0.003000	0.11579	0.235000	0.25334	1.607000	0.36836	1.036000	0.39998	-0.475000	0.04921	GGA		0.721	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	45	0	0	0	1	0	4	45				
EGFLAM	133584	broad.mit.edu	37	5	38350679	38350679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:38350679G>A	ENST00000354891.3	+	4	714	c.368G>A	c.(367-369)gGg>gAg	p.G123E	EGFLAM_ENST00000322350.5_Missense_Mutation_p.G123E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTGGCAAAGGGCGGCTGAGC	0.478																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(367-369)gGg>gAg		EGF-like, fibronectin type III and laminin G domains							107.0	98.0	101.0					5																	38350679		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38350679G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.368G>A	5.37:g.38350679G>A	ENSP00000346964:p.Gly123Glu					EGFLAM_ENST00000354891.3_Missense_Mutation_p.G123E	p.G123E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			4	714	+	all_lung(31;0.000385)		123			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.368G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110529	0.77210	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.66460	-0.21;-0.21	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90239	0.4285	10	0.87932	D	0	-4.9633	15.0475	0.71838	0.0:0.0:1.0:0.0	.	123;123	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	E	123	ENSP00000346964:G123E;ENSP00000313084:G123E	ENSP00000313084:G123E	G	+	2	0	EGFLAM	38386436	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.689000	0.68234	2.270000	0.75569	0.462000	0.41574	GGG		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	86	0	0	0	1	0	10	86				
LHX4	89884	broad.mit.edu	37	1	180243576	180243576	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:180243576G>A	ENST00000263726.2	+	6	1279	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	345					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CGCATGCAGGGCAGGGAGTAA	0.567																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(1033-1035)ggG>ggA		LIM homeobox 4							223.0	217.0	219.0					1																	180243576		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243576G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.1035G>A	1.37:g.180243576G>A						RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	p.G345G	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			6	1279	+			345					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.1035G>A	CCDS1338.1																																																																																				0.567	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		14	387	0	0	0	1	0	14	387				
PCNX	22990	broad.mit.edu	37	14	71443988	71443988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:71443988C>T	ENST00000304743.2	+	6	1380	c.934C>T	c.(934-936)Cca>Tca	p.P312S	PCNX_ENST00000439984.3_Missense_Mutation_p.P312S|PCNX_ENST00000238570.5_Missense_Mutation_p.P312S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	312						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)		TGGATTAGATCCAGTTAGTGA	0.463																																						ENST00000304743.2																			0				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						c.(934-936)Cca>Tca		pecanex homolog (Drosophila)							90.0	87.0	88.0					14																	71443988		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71443988C>T	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.934C>T	14.37:g.71443988C>T	ENSP00000304192:p.Pro312Ser					PCNX_ENST00000439984.3_Missense_Mutation_p.P312S|PCNX_ENST00000238570.5_Missense_Mutation_p.P312S	p.P312S	NM_014982.2	NP_055797.2	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	1380	+			312					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.934C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223958	0.39300	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.10860	3.3;3.31;2.83	5.93	5.93	0.95920	.	0.230585	0.36932	N	0.002323	T	0.09598	0.0236	N	0.19112	0.55	0.44570	D	0.997537	P;P;P	0.45531	0.518;0.518;0.86	B;B;P	0.44561	0.197;0.197;0.453	T	0.34079	-0.9843	10	0.22109	T	0.4	.	14.2091	0.65753	0.2116:0.7884:0.0:0.0	.	312;312;312	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	S	312	ENSP00000304192:P312S;ENSP00000238570:P312S;ENSP00000396617:P312S	ENSP00000238570:P312S	P	+	1	0	PCNX	70513741	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.452000	0.52971	2.816000	0.96949	0.650000	0.86243	CCA		0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		20	140	0	0	0	1	0	20	140				
MTG2	26164	broad.mit.edu	37	20	60774195	60774195	+	Silent	SNP	G	G	A	rs374768509		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:60774195G>A	ENST00000370823.3	+	6	726	c.708G>A	c.(706-708)ggG>ggA	p.G236G	MTG2_ENST00000536470.1_Silent_p.G8G|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	236	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CCAACGCCGGGAAGTCCTCAC	0.622																																						ENST00000370823.3																			0											c.(706-708)ggG>ggA		mitochondrial ribosome-associated GTPase 2							47.0	48.0	47.0					20																	60774195		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60774195G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.708G>A	20.37:g.60774195G>A						MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Silent_p.G8G	p.G236G	NM_015666.3	NP_056481.1					6	726	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.708G>A	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		5	73	0	0	0	1	0	5	73				
NPC1L1	29881	broad.mit.edu	37	7	44560392	44560392	+	Silent	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:44560392C>A	ENST00000289547.4	-	14	3163	c.3108G>T	c.(3106-3108)gtG>gtT	p.V1036V	NPC1L1_ENST00000546276.1_Silent_p.V990V|NPC1L1_ENST00000381160.3_Silent_p.V1036V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1036					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGTCAAGTTCACAGAGGTGC	0.577																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3106-3108)gtG>gtT		NPC1-like 1	Ezetimibe(DB00973)						88.0	80.0	83.0					7																	44560392		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560392C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3108G>T	7.37:g.44560392C>A						NPC1L1_ENST00000546276.1_Silent_p.V990V|NPC1L1_ENST00000381160.3_Silent_p.V1036V	p.V1036V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			14	3163	-			1036					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3108G>T	CCDS5491.1																																																																																				0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		6	136	1	0	3.59834e-05	1	3.64887e-05	6	136				
CFAP69	79846	broad.mit.edu	37	7	89939476	89939476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:89939476C>T	ENST00000389297.4	+	23	3001	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	C7orf63_ENST00000497910.1_Missense_Mutation_p.P899L|AC002064.5_ENST00000445784.1_lincRNA|C7orf63_ENST00000316089.8_Missense_Mutation_p.P871L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		917										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAAAACTGCCCATTCGAGGA	0.428																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2749-2751)cCc>cTc		chromosome 7 open reading frame 63							106.0	99.0	101.0					7																	89939476		1886	4105	5991	SO:0001583	missense	79846						binding	g.chr7:89939476C>T																												ENST00000389297.4:c.2750C>T	7.37:g.89939476C>T	ENSP00000373948:p.Pro917Leu					C7orf63_ENST00000497910.1_Missense_Mutation_p.P899L|C7orf63_ENST00000316089.8_Missense_Mutation_p.P871L	p.P917L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			23	3001	+			917					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2750C>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808134	0.90707	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.27557	2.22;2.18;2.23;1.66	5.83	5.83	0.93111	.	0.078313	0.53938	D	0.000046	T	0.58090	0.2098	M	0.72118	2.19	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.964	T	0.58561	-0.7615	10	0.87932	D	0	-15.4545	20.1338	0.98010	0.0:1.0:0.0:0.0	.	899;917	A5D8W1-5;A5D8W1	.;CG063_HUMAN	L	917;871;899;454	ENSP00000373948:P917L;ENSP00000321753:P871L;ENSP00000419549:P899L;ENSP00000391571:P454L	ENSP00000321753:P871L	P	+	2	0	C7orf63	89777412	0.971000	0.33674	0.999000	0.59377	0.996000	0.88848	5.916000	0.69981	2.770000	0.95276	0.655000	0.94253	CCC		0.428	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			7	105	0	0	0	1	0	7	105				
GPD2	2820	broad.mit.edu	37	2	157352593	157352593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:157352593C>T	ENST00000310454.6	+	3	512	c.140C>T	c.(139-141)tCa>tTa	p.S47L	GPD2_ENST00000409125.4_Intron|GPD2_ENST00000540309.1_Missense_Mutation_p.S47L|GPD2_ENST00000409674.1_Missense_Mutation_p.S47L|GPD2_ENST00000438166.2_Missense_Mutation_p.S47L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	47					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GACTGCATTTCAGAACCAGTT	0.398																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(139-141)tCa>tTa		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							78.0	75.0	76.0					2																	157352593		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157352593C>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.140C>T	2.37:g.157352593C>T	ENSP00000308610:p.Ser47Leu					GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.S47L|GPD2_ENST00000409674.1_Missense_Mutation_p.S47L|GPD2_ENST00000540309.1_Missense_Mutation_p.S47L	p.S47L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			3	512	+			47					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.140C>T	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	6.039	0.375614	0.11409	.	.	ENSG00000115159	ENST00000415049;ENST00000310454;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T	0.57107	0.42;0.42;0.96;0.42	5.65	3.59	0.41128	.	0.847047	0.10471	N	0.670789	T	0.29491	0.0735	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31861	-0.9928	10	0.08179	T	0.78	.	4.9244	0.13885	0.1525:0.6106:0.1481:0.0889	.	47	P43304	GPDM_HUMAN	L	47	ENSP00000308610:S47L;ENSP00000409708:S47L;ENSP00000440892:S47L;ENSP00000386425:S47L	ENSP00000308610:S47L	S	+	2	0	GPD2	157060839	0.000000	0.05858	0.368000	0.25939	0.149000	0.21700	1.089000	0.30890	2.665000	0.90641	0.596000	0.82720	TCA		0.398	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			4	59	0	0	0	1	0	4	59				
DZIP3	9666	broad.mit.edu	37	3	108363276	108363276	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:108363276C>T	ENST00000361582.3	+	14	1637	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	DZIP3_ENST00000463306.1_Silent_p.L469L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	469					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACTTATGCCTCCTGTTAGCTC	0.423																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1405-1407)ctC>ctT		DAZ interacting zinc finger protein 3							145.0	140.0	141.0					3																	108363276		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363276C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1407C>T	3.37:g.108363276C>T						DZIP3_ENST00000463306.1_Silent_p.L469L	p.L469L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1637	+			469					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.1407C>T	CCDS2952.1																																																																																				0.423	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		10	193	0	0	0	1	0	10	193				
SMEK1	55671	broad.mit.edu	37	14	91929184	91929184	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:91929184T>G	ENST00000554943.1	-	12	1983	c.1868A>C	c.(1867-1869)aAt>aCt	p.N623T	SMEK1_ENST00000428424.2_Missense_Mutation_p.N384T|SMEK1_ENST00000337238.4_Missense_Mutation_p.N610T|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.N384T|SMEK1_ENST00000554684.1_Missense_Mutation_p.N610T			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	623					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTTCCAGTAATTTTCAATTAC	0.299																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1828-1830)aAt>aCt		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							131.0	137.0	135.0					14																	91929184		2203	4298	6501	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91929184T>G	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1868A>C	14.37:g.91929184T>G	ENSP00000450883:p.Asn623Thr					SMEK1_ENST00000554943.1_Missense_Mutation_p.N623T|SMEK1_ENST00000337238.4_Missense_Mutation_p.N610T|SMEK1_ENST00000428424.2_Missense_Mutation_p.N384T|SMEK1_ENST00000555462.1_Missense_Mutation_p.N384T|SMEK1_ENST00000555718.1_5'UTR	p.N610T			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	12	2325	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	623					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1829A>C		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088354	0.55968	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.34	4.18	0.49190	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.35542	1.07	0.80722	D	1	D;B;P	0.61080	0.989;0.105;0.511	D;B;B	0.70487	0.969;0.055;0.17	T	0.38757	-0.9646	10	0.35671	T	0.21	-19.6098	11.7225	0.51691	0.1322:0.0:0.0:0.8678	.	384;623;610	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	T	610;610;384;623;384;610	ENSP00000450864:N610T;ENSP00000337125:N610T;ENSP00000392704:N384T;ENSP00000450883:N623T;ENSP00000450891:N384T;ENSP00000452596:N610T	ENSP00000337125:N610T	N	-	2	0	SMEK1	90998937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.303000	0.72794	0.850000	0.35239	0.533000	0.62120	AAT		0.299	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		18	157	0	0	0	1	0	18	157				
CPLX3	594855	broad.mit.edu	37	15	75122576	75122576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:75122576G>A	ENST00000395018.4	+	3	515	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	120					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						GGAGGAGAAGGCCTCAGTCCT	0.612																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(358-360)Gcc>Acc		complexin 3							79.0	72.0	75.0					15																	75122576		2197	4295	6492	SO:0001583	missense	594855					cell junction|synapse	syntaxin binding	g.chr15:75122576G>A	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.358G>A	15.37:g.75122576G>A	ENSP00000378464:p.Ala120Thr					RP11-414J4.2_ENST00000564823.1_RNA	p.A120T	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	515	+			120					D3DW66|Q8TEM6|Q9H818	Missense_Mutation	SNP	ENST00000395018.4	37	c.358G>A	CCDS32294.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628446	0.46944	.	.	ENSG00000213578	ENST00000395018	.	.	.	5.32	4.4	0.53042	.	0.260768	0.31279	U	0.007921	T	0.16342	0.0393	N	0.08118	0	0.27096	N	0.962747	B	0.02656	0.0	B	0.09377	0.004	T	0.05451	-1.0884	9	0.31617	T	0.26	-5.9783	5.7137	0.17948	0.254:0.0:0.746:0.0	.	120	Q8WVH0	CPLX3_HUMAN	T	120	.	ENSP00000378464:A120T	A	+	1	0	CPLX3	72909629	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.517000	0.35867	2.494000	0.84150	0.655000	0.94253	GCC		0.612	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		5	80	0	0	0	1	0	5	80				
COL1A2	1278	broad.mit.edu	37	7	94056539	94056539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:94056539C>T	ENST00000297268.6	+	48	3670	c.3199C>T	c.(3199-3201)Cgc>Tgc	p.R1067C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1067			R -> H. {ECO:0000269|PubMed:23656646}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAAAGATGGTCGCACTGGACA	0.547										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3199-3201)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						76.0	69.0	71.0					7																	94056539		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94056539C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3199C>T	7.37:g.94056539C>T	ENSP00000297268:p.Arg1067Cys	HNSCC(75;0.22)					p.R1067C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		48	3670	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1067					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3199C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462584	0.43736	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94576	-3.46	5.32	4.42	0.53409	.	0.180007	0.45867	D	0.000334	D	0.96178	0.8754	M	0.79805	2.47	0.54753	D	0.999989	D	0.60575	0.988	P	0.55455	0.776	D	0.96006	0.8997	10	0.48119	T	0.1	.	15.3903	0.74739	0.1444:0.8556:0.0:0.0	.	1067	P08123	CO1A2_HUMAN	C	1067;1068	ENSP00000297268:R1067C	ENSP00000297268:R1067C	R	+	1	0	COL1A2	93894475	1.000000	0.71417	0.978000	0.43139	0.936000	0.57629	2.369000	0.44231	1.564000	0.49628	0.655000	0.94253	CGC		0.547	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	36	0	0	0	1	0	5	36				
RSPO2	340419	broad.mit.edu	37	8	108970359	108970359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:108970359T>C	ENST00000276659.5	-	5	1185	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	RSPO2_ENST00000517781.1_Missense_Mutation_p.T125A|RSPO2_ENST00000517939.1_Missense_Mutation_p.T122A|RSPO2_ENST00000378439.2_Missense_Mutation_p.T125A	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	189	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCAGCAATGGTTGGACACAGT	0.428																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(565-567)Acc>Gcc		R-spondin 2							353.0	296.0	315.0					8																	108970359		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970359T>C	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.565A>G	8.37:g.108970359T>C	ENSP00000276659:p.Thr189Ala					RSPO2_ENST00000517939.1_Missense_Mutation_p.T122A|RSPO2_ENST00000517781.1_Missense_Mutation_p.T125A|RSPO2_ENST00000378439.2_Missense_Mutation_p.T125A	p.T189A	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1185	-			189			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.565A>G	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445755	0.63178	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.9	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	N	0.10760	0.04	0.53688	D	0.999979	D;D	0.61697	0.99;0.975	D;P	0.73380	0.98;0.79	T	0.63440	-0.6637	10	0.06365	T	0.9	1.8339	12.2511	0.54599	0.0:0.0674:0.0:0.9326	.	189;125	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	A	122;125;125;189;122	ENSP00000428940:T122A;ENSP00000427937:T125A;ENSP00000367698:T125A;ENSP00000276659:T189A;ENSP00000428614:T122A	ENSP00000276659:T189A	T	-	1	0	RSPO2	109039535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.951000	0.70273	2.254000	0.74563	0.460000	0.39030	ACC		0.428	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		32	285	0	0	0	1	0	32	285				
OR8K1	390157	broad.mit.edu	37	11	56114159	56114159	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56114159C>T	ENST00000279783.2	+	1	739	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTTGCTCTTCTCCCTCTCAA	0.383										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(643-645)ttC>ttT		olfactory receptor, family 8, subfamily K, member 1							115.0	108.0	110.0					11																	56114159		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114159C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.645C>T	11.37:g.56114159C>T		HNSCC(65;0.19)					p.F215F	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	739	+	Esophageal squamous(21;0.00448)		215					B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.645C>T	CCDS31528.1																																																																																				0.383	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		9	142	0	0	0	1	0	9	142				
ZKSCAN7	55888	broad.mit.edu	37	3	44598648	44598648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:44598648G>A	ENST00000273320.3	+	2	538	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.G37R|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	37					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)										CCAGACCTGGGGGCAGGGCAG	0.572																																						ENST00000273320.3																			0											c.(109-111)Ggg>Agg		zinc finger with KRAB and SCAN domains 7							60.0	61.0	60.0					3																	44598648		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44598648G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.109G>A	3.37:g.44598648G>A	ENSP00000273320:p.Gly37Arg					ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.G37R	p.G37R	NM_018651.2	NP_061121.2					2	538	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.109G>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.031924	0.35893	.	.	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320	T;T;T;T	0.05717	4.48;3.4;4.48;3.4	4.9	2.12	0.27331	.	1.226440	0.06349	N	0.709550	T	0.09158	0.0226	M	0.75264	2.295	0.09310	N	1	B;B	0.32203	0.002;0.36	B;B	0.34385	0.003;0.181	T	0.47471	-0.9115	10	0.08381	T	0.77	-0.5135	5.365	0.16109	0.1835:0.1662:0.6503:0.0	.	37;37	Q9P0L1;Q9P0L1-2	ZN167_HUMAN;.	R	37	ENSP00000416681:G37R;ENSP00000395524:G37R;ENSP00000345404:G37R;ENSP00000273320:G37R	ENSP00000273320:G37R	G	+	1	0	ZNF167	44573652	0.087000	0.21565	0.028000	0.17463	0.346000	0.29079	0.269000	0.18589	0.223000	0.20920	-0.136000	0.14681	GGG		0.572	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		5	109	0	0	0	1	0	5	109				
B4GALT4	8702	broad.mit.edu	37	3	118942967	118942967	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:118942967G>A	ENST00000483209.1	-	5	1253	c.612C>T	c.(610-612)aaC>aaT	p.N204N	B4GALT4_ENST00000359213.3_Silent_p.N204N|B4GALT4_ENST00000467604.1_Silent_p.N204N|B4GALT4_ENST00000393765.2_Silent_p.N204N|B4GALT4_ENST00000471675.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	204					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	ACTTGTAAAGGTTAAAGTCAT	0.493																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(610-612)aaC>aaT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						127.0	118.0	121.0					3																	118942967		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118942967G>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.612C>T	3.37:g.118942967G>A						B4GALT4_ENST00000393765.2_Silent_p.N204N|B4GALT4_ENST00000483209.1_Silent_p.N204N|B4GALT4_ENST00000359213.3_Silent_p.N204N|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR	p.N204N			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	1003	-			204					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.612C>T	CCDS2986.1																																																																																				0.493	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		6	83	0	0	0	1	0	6	83				
GRIK2	2898	broad.mit.edu	37	6	102483342	102483342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:102483342G>A	ENST00000421544.1	+	14	2702	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	GRIK2_ENST00000369137.3_Missense_Mutation_p.E662K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E689K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E738K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E738K|GRIK2_ENST00000369138.1_Missense_Mutation_p.E738K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	738					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTCCTAATGGAGTCAACAAC	0.478																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2212-2214)Gag>Aag		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						182.0	183.0	182.0					6																	102483342		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483342G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2212G>A	6.37:g.102483342G>A	ENSP00000397026:p.Glu738Lys					GRIK2_ENST00000421544.1_Missense_Mutation_p.E738K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E738K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E738K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E662K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E689K	p.E738K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2702	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	738					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2212G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783721	0.96937	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62153	-0.6914	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	738;738;738	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	738;738;738;662;738;689;513	ENSP00000397026:E738K;ENSP00000405596:E738K;ENSP00000358134:E738K;ENSP00000358133:E662K;ENSP00000313276:E738K;ENSP00000358130:E689K	ENSP00000313276:E738K	E	+	1	0	GRIK2	102590035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	GAG		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			14	299	0	0	0	1	0	14	299				
PXDN	7837	broad.mit.edu	37	2	1677502	1677502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:1677502C>T	ENST00000252804.4	-	9	981	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	311	Ig-like C2-type 1.				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)			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)		ATACCCTGGTCTGTCTCCTGT	0.527																																						ENST00000252804.4																			0				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						c.(931-933)Gac>Aac		peroxidasin homolog (Drosophila)							173.0	177.0	176.0					2																	1677502		2083	4222	6305	SO:0001583	missense	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.chr2:1677502C>T	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.931G>A	2.37:g.1677502C>T	ENSP00000252804:p.Asp311Asn					PXDN_ENST00000483018.1_5'UTR	p.D311N	NM_012293.1	NP_036425.1	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)	9	981	-	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)	311			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.931G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473860	0.96291	.	.	ENSG00000130508	ENST00000252804	T	0.80994	-1.44	5.42	5.42	0.78866	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.90425	3.115	0.58432	D	0.999991	D;D	0.89917	0.994;1.0	D;D	0.97110	0.966;1.0	D	0.93001	0.6423	10	0.87932	D	0	-60.2065	17.7383	0.88400	0.0:1.0:0.0:0.0	.	311;311	Q92626-2;Q92626	.;PXDN_HUMAN	N	311	ENSP00000252804:D311N	ENSP00000252804:D311N	D	-	1	0	PXDN	1656509	1.000000	0.71417	0.960000	0.40013	0.947000	0.59692	7.683000	0.84093	2.691000	0.91804	0.561000	0.74099	GAC		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		9	186	0	0	0	1	0	9	186				
IQUB	154865	broad.mit.edu	37	7	123101542	123101542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:123101542G>A	ENST00000466202.1	-	11	2452	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.R626C	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	626					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGCAGTTACGACACCGGTAT	0.368																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1876-1878)Cgt>Tgt		IQ motif and ubiquitin domain containing							96.0	90.0	92.0					7																	123101542		2203	4298	6501	SO:0001583	missense	154865							g.chr7:123101542G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1876C>T	7.37:g.123101542G>A	ENSP00000417769:p.Arg626Cys					IQUB_ENST00000324698.6_Missense_Mutation_p.R626C	p.R626C			Q8NA54	IQUB_HUMAN			11	2452	-			626					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1876C>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556581	0.65425	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.25912	1.77;1.77	5.94	5.94	0.96194	.	0.093997	0.85682	D	0.000000	T	0.55513	0.1925	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56263	-0.8008	10	0.87932	D	0	.	20.36	0.98855	0.0:0.0:1.0:0.0	.	626	Q8NA54	IQUB_HUMAN	C	626	ENSP00000417769:R626C;ENSP00000324882:R626C	ENSP00000324882:R626C	R	-	1	0	IQUB	122888778	1.000000	0.71417	0.785000	0.31869	0.124000	0.20399	8.315000	0.89983	2.817000	0.96982	0.643000	0.83706	CGT		0.368	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		9	85	0	0	0	1	0	9	85				
RIMS2	9699	broad.mit.edu	37	8	104922645	104922645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:104922645G>A	ENST00000262231.10	+	3	1393	c.1145G>A	c.(1144-1146)gGt>gAt	p.G382D	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	605					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGTACTTTGGTGGCCACTCT	0.458										HNSCC(12;0.0054)																												ENST00000262231.10																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1144-1146)gGt>gAt		regulating synaptic membrane exocytosis 2							142.0	136.0	138.0					8																	104922645		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922645G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000262231.10:c.1145G>A	8.37:g.104922645G>A	ENSP00000262231:p.Gly382Asp	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron	p.G382D			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1393	+			605					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000262231.10	37	c.1145G>A		.	.	.	.	.	.	.	.	.	.	G	7.340	0.620742	0.14193	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.14893	2.47	4.95	4.07	0.47477	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.80722	D	1	B	0.27910	0.193	B	0.24701	0.055	T	0.08269	-1.0730	8	0.08179	T	0.78	.	13.5509	0.61732	0.0762:0.0:0.9238:0.0	.	382	Q9UQ26-1	.	D	605;382	ENSP00000262231:G382D	ENSP00000262231:G382D	G	+	2	0	RIMS2	104991821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.745000	0.98856	1.206000	0.43276	0.650000	0.86243	GGT		0.458	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	NM_001100117		12	115	0	0	0	1	0	12	115				
PNMA1	9240	broad.mit.edu	37	14	74180036	74180036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:74180036C>T	ENST00000316836.3	-	1	1092	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	103					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tgcaatctttctaaaaattca	0.547																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(307-309)Gaa>Aaa		paraneoplastic Ma antigen 1							81.0	87.0	85.0					14																	74180036		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74180036C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.307G>A	14.37:g.74180036C>T	ENSP00000318914:p.Glu103Lys						p.E103K	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1092	-			103					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.307G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845448	0.32606	.	.	ENSG00000176903	ENST00000316836	T	0.08896	3.04	4.06	4.06	0.47325	.	0.000000	0.46758	D	0.000264	T	0.04092	0.0114	N	0.04746	-0.17	0.37608	D	0.920821	B	0.24092	0.097	B	0.25884	0.064	T	0.45041	-0.9288	10	0.12430	T	0.62	0.0436	12.0532	0.53518	0.0:1.0:0.0:0.0	.	103	Q8ND90	PNMA1_HUMAN	K	103	ENSP00000318914:E103K	ENSP00000318914:E103K	E	-	1	0	PNMA1	73249789	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.984000	0.49353	2.551000	0.86045	0.655000	0.94253	GAA		0.547	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		16	148	0	0	0	1	0	16	148				
SCN1B	6324	broad.mit.edu	37	19	35523587	35523587	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:35523587G>A	ENST00000262631.5	+	2	333	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SCN1B_ENST00000595652.1_Missense_Mutation_p.E66K|SCN1B_ENST00000415950.3_Missense_Mutation_p.E66K|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	66	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCACTGAGGAGTTTGTCAA	0.612																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(196-198)Gag>Aag		sodium channel, voltage-gated, type I, beta subunit							99.0	94.0	96.0					19																	35523587		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523587G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.196G>A	19.37:g.35523587G>A	ENSP00000262631:p.Glu66Lys					SCN1B_ENST00000595652.1_Missense_Mutation_p.E66K|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.E66K	p.E66K	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	333	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		66			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.196G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416476	0.62511	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.25085	1.82;1.82	3.82	3.82	0.43975	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.131561	0.50627	D	0.000119	T	0.37210	0.0995	L	0.46157	1.445	0.41455	D	0.988	P;P;D	0.64830	0.843;0.771;0.994	D;B;D	0.64506	0.926;0.382;0.915	T	0.05484	-1.0882	10	0.25751	T	0.34	-27.4062	11.0836	0.48074	0.0:0.0:1.0:0.0	.	66;66;66	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	K	66	ENSP00000262631:E66K;ENSP00000396915:E66K	ENSP00000262631:E66K	E	+	1	0	SCN1B	40215427	1.000000	0.71417	0.995000	0.50966	0.045000	0.14185	4.854000	0.62918	1.969000	0.57287	0.563000	0.77884	GAG		0.612	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			11	185	0	0	0	1	0	11	185				
PNLDC1	154197	broad.mit.edu	37	6	160232745	160232745	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:160232745A>T	ENST00000610273.1	+	11	1004	c.833A>T	c.(832-834)cAa>cTa	p.Q278L	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTACGATCAATTTAAGCAG	0.403																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(832-834)cAa>cTa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							116.0	114.0	115.0					6																	160232745		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160232745A>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.833A>T	6.37:g.160232745A>T	ENSP00000476448:p.Gln278Leu					PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289L	p.Q278L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	11	1004	+		Breast(66;0.00519)|Ovarian(120;0.123)	278					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.833A>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647859	0.47258	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22134	1.97;1.97	5.61	5.61	0.85477	Ribonuclease H-like (1);	0.314931	0.27336	N	0.019823	T	0.13970	0.0338	L	0.53249	1.67	0.25084	N	0.9909	B;B	0.32071	0.355;0.351	B;B	0.37780	0.101;0.258	T	0.07731	-1.0757	10	0.62326	D	0.03	.	13.5634	0.61804	1.0:0.0:0.0:0.0	.	289;278	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	L	278;289	ENSP00000275275:Q278L;ENSP00000376007:Q289L	ENSP00000275275:Q278L	Q	+	2	0	PNLDC1	160152735	0.405000	0.25336	0.020000	0.16555	0.877000	0.50540	5.225000	0.65294	2.155000	0.67459	0.533000	0.62120	CAA		0.403	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		6	92	0	0	0	1	0	6	92				
PXDNL	137902	broad.mit.edu	37	8	52366183	52366183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:52366183C>T	ENST00000356297.4	-	10	1245	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G382E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	382	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAAGTAAAGTCCACTGGACGT	0.498																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1144-1146)gGa>gAa		peroxidasin homolog (Drosophila)-like							135.0	135.0	135.0					8																	52366183		2099	4212	6311	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366183C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1145G>A	8.37:g.52366183C>T	ENSP00000348645:p.Gly382Glu					PXDNL_ENST00000543296.1_Missense_Mutation_p.G382E	p.G382E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			10	1245	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	382			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1145G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214873	0.39102	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.35421	1.31;1.31	4.08	3.2	0.36748	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44993	0.1320	L	0.38692	1.165	0.27181	N	0.960662	D	0.67145	0.996	D	0.67900	0.954	T	0.23119	-1.0197	9	0.72032	D	0.01	.	7.7312	0.28788	0.0:0.881:0.0:0.119	.	382	A1KZ92	PXDNL_HUMAN	E	382	ENSP00000348645:G382E;ENSP00000444865:G382E	ENSP00000348645:G382E	G	-	2	0	PXDNL	52528736	1.000000	0.71417	0.001000	0.08648	0.013000	0.08279	4.808000	0.62583	0.692000	0.31613	0.650000	0.86243	GGA		0.498	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		11	86	0	0	0	1	0	11	86				
C9orf114	51490	broad.mit.edu	37	9	131588373	131588373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:131588373G>C	ENST00000361256.5	-	7	607	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	189							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						TGCCCTCTCGGAACTCGGATT	0.612																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(565-567)ttC>ttG		chromosome 9 open reading frame 114							94.0	91.0	92.0					9																	131588373		2203	4300	6503	SO:0001583	missense	51490							g.chr9:131588373G>C		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.567C>G	9.37:g.131588373G>C	ENSP00000354812:p.Phe189Leu						p.F189L	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			7	607	-			189					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	c.567C>G	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322245	0.81580	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.43688	0.94	5.31	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);	0.107189	0.64402	D	0.000003	T	0.47395	0.1443	L	0.35793	1.09	0.39465	D	0.967622	P;P	0.50710	0.938;0.698	P;B	0.58013	0.831;0.438	T	0.51132	-0.8744	10	0.72032	D	0.01	-8.2872	10.134	0.42695	0.1553:0.0:0.8447:0.0	.	188;189	E7ESY7;Q5T280	.;CI114_HUMAN	L	189;188	ENSP00000354812:F189L	ENSP00000354812:F189L	F	-	3	2	C9orf114	130628194	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.441000	0.44864	1.344000	0.45657	0.644000	0.83932	TTC		0.612	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		7	119	0	0	0	1	0	7	119				
CFAP54	144535	broad.mit.edu	37	12	97087580	97087580	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:97087580C>T	ENST00000524981.4	+	45	6368	c.6345C>T	c.(6343-6345)atC>atT	p.I2115I				Q96N23	CL055_HUMAN		0																	AAGCAAGAATCCTCAAGGTAT	0.318																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1696-1698)atC>atT									99.0	99.0	99.0					12																	97087580		2202	4296	6498	SO:0001819	synonymous_variant	144535							g.chr12:97087580C>T																												ENST00000524981.4:c.6345C>T	12.37:g.97087580C>T							p.I566I			Q6ZTY8	CL063_HUMAN			12	1698	+			540						Silent	SNP	ENST00000524981.4	37	c.1698C>T																																																																																					0.318	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			7	84	0	0	0	1	0	7	84				
CRNKL1	51340	broad.mit.edu	37	20	20033136	20033136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:20033136C>T	ENST00000377340.2	-	2	365	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A100T|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'Flank|CRNKL1_ENST00000536226.1_5'Flank|C20orf26_ENST00000389656.3_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	112					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGACCTCTCGCTTGAGCCGTG	0.602																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(334-336)Gcg>Acg		crooked neck pre-mRNA splicing factor 1							77.0	74.0	75.0					20																	20033136		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033136C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.334G>A	20.37:g.20033136C>T	ENSP00000366557:p.Ala112Thr					CRNKL1_ENST00000377327.4_Missense_Mutation_p.A100T	p.A112T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			2	365	-			112					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.334G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795230	0.50208	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.36340	1.27;1.26	5.27	2.19	0.27852	.	0.852929	0.09795	N	0.754939	T	0.17704	0.0425	N	0.08118	0	0.20403	N	0.99991	B;B	0.34103	0.437;0.003	B;B	0.30401	0.115;0.003	T	0.15521	-1.0434	10	0.72032	D	0.01	-0.8392	5.6788	0.17763	0.1562:0.6765:0.0:0.1673	.	100;112	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	T	100;112	ENSP00000366544:A100T;ENSP00000366557:A112T	ENSP00000366544:A100T	A	-	1	0	CRNKL1	19981136	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.962000	0.29280	0.770000	0.33336	0.655000	0.94253	GCG		0.602	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			8	79	0	0	0	1	0	8	79				
POLA1	5422	broad.mit.edu	37	X	24757589	24757589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:24757589A>G	ENST00000379059.3	+	20	2135	c.2120A>G	c.(2119-2121)cAt>cGt	p.H707R	POLA1_ENST00000379068.3_Missense_Mutation_p.H713R	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	707	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AAAAGCTACCATCTGTCTGAA	0.383																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2137-2139)cAt>cGt		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						100.0	89.0	93.0					X																	24757589		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24757589A>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2120A>G	X.37:g.24757589A>G	ENSP00000368349:p.His707Arg					POLA1_ENST00000379059.3_Missense_Mutation_p.H707R	p.H713R			P09884	DPOLA_HUMAN			20	2181	+			707					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.2138A>G	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320225	0.60634	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.38887	1.11;1.11	5.36	5.36	0.76844	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.146062	0.64402	D	0.000009	T	0.53753	0.1816	M	0.80982	2.52	0.54753	D	0.99998	P	0.41080	0.737	P	0.45971	0.499	T	0.56774	-0.7923	10	0.39692	T	0.17	-13.9448	14.4357	0.67279	1.0:0.0:0.0:0.0	.	707	P09884	DPOLA_HUMAN	R	713;707	ENSP00000368358:H713R;ENSP00000368349:H707R	ENSP00000368349:H707R	H	+	2	0	POLA1	24667510	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.877000	0.75562	1.985000	0.57927	0.441000	0.28932	CAT		0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		9	57	0	0	0	1	0	9	57				
MPRIP	23164	broad.mit.edu	37	17	17075092	17075092	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:17075092C>T	ENST00000341712.4	+	16	2224	c.2224C>T	c.(2224-2226)Ctc>Ttc	p.L742F	RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.L742F|MPRIP_ENST00000395804.3_Missense_Mutation_p.L742F|MPRIP_ENST00000444976.1_Missense_Mutation_p.L704F|RP11-45M22.3_ENST00000584203.1_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	742	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTGAAGATCTCCAGAGGCA	0.542																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2224-2226)Ctc>Ttc		myosin phosphatase Rho interacting protein							84.0	102.0	96.0					17																	17075092		2203	4298	6501	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17075092C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2224C>T	17.37:g.17075092C>T	ENSP00000342379:p.Leu742Phe					MPRIP_ENST00000444976.1_Missense_Mutation_p.L704F|MPRIP_ENST00000341712.4_Missense_Mutation_p.L742F|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.L742F	p.L742F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			16	2313	+			742			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2224C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.110514|4.110514	0.77210|0.77210	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000313485	T;T;T;T|.	0.48201|.	0.82;1.14;1.16;1.16|.	5.79|5.79	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.69324|0.69324	0.3098|0.3098	M|M	0.68317|0.68317	2.08|2.08	0.45607|0.45607	D|D	0.998547|0.998547	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.85130|.	0.996;0.977;0.997|.	T|T	0.67496|0.67496	-0.5656|-0.5656	9|5	.|.	.|.	.|.	-17.1666|-17.1666	12.2879|12.2879	0.54803|0.54803	0.0:0.8633:0.0:0.1367|0.0:0.8633:0.0:0.1367	.|.	1106;742;742|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;MPRIP_HUMAN|.	F|F	704;742;742;742|1106	ENSP00000400189:L704F;ENSP00000379156:L742F;ENSP00000379149:L742F;ENSP00000342379:L742F|.	.|.	L|S	+|+	1|2	0|0	MPRIP|MPRIP	17015817|17015817	1.000000|1.000000	0.71417|0.71417	0.771000|0.771000	0.31576|0.31576	0.881000|0.881000	0.50899|0.50899	2.847000|2.847000	0.48270|0.48270	0.809000|0.809000	0.34255|0.34255	-0.136000|-0.136000	0.14681|0.14681	CTC|TCT		0.542	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		8	130	0	0	0	1	0	8	130				
NEURL1	9148	broad.mit.edu	37	10	105330722	105330722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:105330722C>T	ENST00000369780.4	+	2	588	c.179C>T	c.(178-180)gCc>gTc	p.A60V	NEURL_ENST00000369777.2_Missense_Mutation_p.A43V	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		60					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGCTCCCAGCCACGCCGCTG	0.642																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(178-180)gCc>gTc									81.0	89.0	86.0					10																	105330722		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330722C>T																												ENST00000369780.4:c.179C>T	10.37:g.105330722C>T	ENSP00000358795:p.Ala60Val					NEURL_ENST00000369777.2_Missense_Mutation_p.A43V	p.A60V	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	588	+			60					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.179C>T	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	4.656	0.122005	0.08931	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777	.	.	.	4.57	3.66	0.41972	NEUZ (1);	0.424311	0.24145	N	0.041132	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	1	B	0.22480	0.07	B	0.18263	0.021	T	0.12066	-1.0562	9	0.22706	T	0.39	-23.1074	3.6295	0.08126	0.0:0.5548:0.2327:0.2126	.	60	O76050	NEU1A_HUMAN	V	60;43;43	.	ENSP00000358792:A43V	A	+	2	0	NEURL	105320712	0.333000	0.24731	0.333000	0.25482	0.167000	0.22549	1.195000	0.32186	1.113000	0.41760	0.462000	0.41574	GCC		0.642	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			10	238	0	0	0	1	0	10	238				
SCNN1A	6337	broad.mit.edu	37	12	6457903	6457903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6457903G>A	ENST00000228916.2	-	12	1717	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	SCNN1A_ENST00000358945.3_Missense_Mutation_p.P562L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P563L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P240L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P599L	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	540					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTGACAGAGGGAGACTCAGA	0.522																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1684-1686)cCc>cTc		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						148.0	131.0	137.0					12																	6457903		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457903G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1619C>T	12.37:g.6457903G>A	ENSP00000228916:p.Pro540Leu					SCNN1A_ENST00000543768.1_Missense_Mutation_p.P563L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P240L|SCNN1A_ENST00000228916.2_Missense_Mutation_p.P540L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P599L	p.P562L			P37088	SCNNA_HUMAN			12	2125	-			540		S -> L (in AR-PHA1).			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1685C>T	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666432	0.88251	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	T	0.80969	0.4726	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.995	D	0.83514	0.0082	10	0.54805	T	0.06	-36.7193	15.7833	0.78281	0.0:0.0:1.0:0.0	.	563;540;599	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	L	599;562;240;540;563	ENSP00000353292:P599L;ENSP00000351825:P562L;ENSP00000440876:P240L;ENSP00000228916:P540L;ENSP00000438739:P563L	ENSP00000228916:P540L	P	-	2	0	SCNN1A	6328164	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.799000	0.75160	2.331000	0.79229	0.591000	0.81541	CCC		0.522	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			9	121	0	0	0	1	0	9	121				
OR6C70	390327	broad.mit.edu	37	12	55863090	55863090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:55863090G>A	ENST00000327335.4	-	1	832	c.833C>T	c.(832-834)tCa>tTa	p.S278L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CGGGGCAACTGAAGTATTGAG	0.368																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(832-834)tCa>tTa		olfactory receptor, family 6, subfamily C, member 70							80.0	73.0	75.0					12																	55863090		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863090G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.833C>T	12.37:g.55863090G>A	ENSP00000329153:p.Ser278Leu					RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.S278L	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	832	-			278						Missense_Mutation	SNP	ENST00000327335.4	37	c.833C>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423744	0.25639	.	.	ENSG00000184954	ENST00000327335	T	0.00028	8.92	4.12	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000541	T	0.00210	0.0006	N	0.25485	0.75	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54622	-0.8266	10	0.72032	D	0.01	.	7.943	0.29969	0.2445:0.0:0.7555:0.0	.	278	A6NIJ9	O6C70_HUMAN	L	278	ENSP00000329153:S278L	ENSP00000329153:S278L	S	-	2	0	OR6C70	54149357	0.002000	0.14202	0.011000	0.14972	0.001000	0.01503	0.995000	0.29706	1.082000	0.41137	0.650000	0.86243	TCA		0.368	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			10	120	0	0	0	1	0	10	120				
ZNF536	9745	broad.mit.edu	37	19	30936019	30936019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:30936019C>T	ENST00000355537.3	+	2	1697	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	517					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGATGGACCCCGTGAACAGC	0.617																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1549-1551)cCc>cTc		zinc finger protein 536							41.0	47.0	45.0					19																	30936019		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936019C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1550C>T	19.37:g.30936019C>T	ENSP00000347730:p.Pro517Leu						p.P517L	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1697	+	Esophageal squamous(110;0.0834)		517					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1550C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843437	0.71488	.	.	ENSG00000198597	ENST00000355537	T	0.15718	2.4	5.53	5.53	0.82687	.	0.054037	0.85682	D	0.000000	T	0.38108	0.1028	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.57425	0.82;0.82	T	0.10660	-1.0620	10	0.66056	D	0.02	-30.6472	19.4573	0.94900	0.0:1.0:0.0:0.0	.	517;517	A7E228;O15090	.;ZN536_HUMAN	L	517	ENSP00000347730:P517L	ENSP00000347730:P517L	P	+	2	0	ZNF536	35627859	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	7.457000	0.80775	2.582000	0.87167	0.655000	0.94253	CCC		0.617	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	123	0	0	0	1	0	7	123				
AKAP2	11217	broad.mit.edu	37	9	112899178	112899178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:112899178G>A	ENST00000259318.7	+	2	868	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E452K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E310K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E452K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E310K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E452K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E452K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	221										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GCTGGAAAAGGAGAGGAGAGA	0.512																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1354-1356)Gag>Aag									65.0	67.0	66.0					9																	112899178		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899178G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.661G>A	9.37:g.112899178G>A	ENSP00000259318:p.Glu221Lys					AKAP2_ENST00000259318.7_Missense_Mutation_p.E221K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E452K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E310K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E310K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E452K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E452K	p.E452K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1534	+			221					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1354G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801247	0.90538	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.996;0.995;0.98;0.995;0.989;0.998;0.998;0.996	T	0.71869	-0.4462	10	0.49607	T	0.09	-33.6657	19.1688	0.93569	0.0:0.0:1.0:0.0	.	221;310;304;310;311;452;452;270	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	452;452;452;452;310;310;270;221	ENSP00000363654:E452K;ENSP00000305861:E452K;ENSP00000451476:E452K;ENSP00000421522:E452K;ENSP00000404782:E310K;ENSP00000363649:E310K;ENSP00000419268:E270K;ENSP00000259318:E221K	ENSP00000259318:E221K	E	+	1	0	PALM2-AKAP2;AKAP2	111938999	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.544000	0.98092	2.840000	0.97914	0.655000	0.94253	GAG		0.512	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		8	94	0	0	0	1	0	8	94				
OR8K3	219473	broad.mit.edu	37	11	56085945	56085945	+	Silent	SNP	T	T	C	rs201367606		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56085945T>C	ENST00000312711.1	+	1	163	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	55						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGACTCCAGGTTGCAAACCCC	0.423																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(163-165)Ttg>Ctg		olfactory receptor, family 8, subfamily K, member 3							208.0	199.0	202.0					11																	56085945		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085945T>C	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.163T>C	11.37:g.56085945T>C							p.L55L	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	163	+	Esophageal squamous(21;0.00448)		55					Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.163T>C	CCDS31527.1																																																																																				0.423	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		9	219	0	0	0	1	0	9	219				
VARS2	57176	broad.mit.edu	37	6	30890007	30890007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30890007C>T	ENST00000321897.5	+	19	2553	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.P501S|VARS2_ENST00000416670.2_Missense_Mutation_p.P641S|VARS2_ENST00000541562.1_Missense_Mutation_p.P671S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	641					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCAGCTGCCCTTCAGCAA	0.572																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1921-1923)Ccc>Tcc		valyl-tRNA synthetase 2, mitochondrial							103.0	104.0	103.0					6																	30890007		1510	2708	4218	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30890007C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1921C>T	6.37:g.30890007C>T	ENSP00000316092:p.Pro641Ser					VARS2_ENST00000541562.1_Missense_Mutation_p.P671S|VARS2_ENST00000416670.2_Missense_Mutation_p.P641S|VARS2_ENST00000542001.1_Missense_Mutation_p.P501S|VARS2_ENST00000476162.1_3'UTR	p.P641S			Q5ST30	SYVM_HUMAN			19	2553	+			641					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1921C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809518	0.90707	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.14	5.14	0.70334	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86536	0.1825	10	0.87932	D	0	-28.1439	16.1439	0.81551	0.0:1.0:0.0:0.0	.	639;671;641	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	S	641;641;501;671	ENSP00000316092:P641S;ENSP00000394802:P641S;ENSP00000438200:P501S;ENSP00000441000:P671S	ENSP00000316092:P641S	P	+	1	0	VARS2	30997986	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.908000	0.75730	2.686000	0.91538	0.561000	0.74099	CCC		0.572	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		12	139	0	0	0	1	0	12	139				
TRPM8	79054	broad.mit.edu	37	2	234878916	234878916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:234878916C>T	ENST00000324695.4	+	17	2241	c.2201C>T	c.(2200-2202)cCc>cTc	p.P734L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	734					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTCACCTCCCCCTTCGTGGTC	0.542																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2200-2202)cCc>cTc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						474.0	395.0	422.0					2																	234878916		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878916C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2201C>T	2.37:g.234878916C>T	ENSP00000323926:p.Pro734Leu					TRPM8_ENST00000433712.2_Intron	p.P734L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2241	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	734					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2201C>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360359	0.82353	.	.	ENSG00000144481	ENST00000324695	T	0.80033	-1.33	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000008	D	0.90515	0.7028	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92217	0.5781	10	0.87932	D	0	-27.6063	16.6947	0.85332	0.0:1.0:0.0:0.0	.	734	Q7Z2W7	TRPM8_HUMAN	L	734	ENSP00000323926:P734L	ENSP00000323926:P734L	P	+	2	0	TRPM8	234543655	0.999000	0.42202	0.997000	0.53966	0.971000	0.66376	5.992000	0.70609	2.357000	0.79964	0.558000	0.71614	CCC		0.542	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		16	344	0	0	0	1	0	16	344				
ACTL7B	10880	broad.mit.edu	37	9	111618191	111618191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:111618191G>A	ENST00000374667.3	-	1	1048	c.20C>T	c.(19-21)cCc>cTc	p.P7L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	7						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGGGCATGGGGCTGTTCCT	0.667																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(19-21)cCc>cTc		actin-like 7B							55.0	55.0	55.0					9																	111618191		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618191G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.20C>T	9.37:g.111618191G>A	ENSP00000363799:p.Pro7Leu						p.P7L	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1048	-			7					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.20C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555244	0.27739	.	.	ENSG00000148156	ENST00000374667	D	0.95482	-3.72	3.99	3.03	0.35002	.	2.649570	0.02423	N	0.082784	D	0.89856	0.6836	N	0.08118	0	0.39136	D	0.961942	B	0.06786	0.001	B	0.04013	0.001	T	0.78319	-0.2250	10	0.87932	D	0	.	6.6732	0.23080	0.143:0.0:0.857:0.0	.	7	Q9Y614	ACL7B_HUMAN	L	7	ENSP00000363799:P7L	ENSP00000363799:P7L	P	-	2	0	ACTL7B	110658012	1.000000	0.71417	0.473000	0.27253	0.245000	0.25701	2.699000	0.47077	0.806000	0.34183	-0.367000	0.07326	CCC		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		7	103	0	0	0	1	0	7	103				
AKAP2	11217	broad.mit.edu	37	9	112900112	112900112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:112900112C>T	ENST00000259318.7	+	2	1802	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P763L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P621L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P763L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P621L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P763L|AKAP2_ENST00000555236.1_Missense_Mutation_p.P763L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	532										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACTGACAACCCCTCAGAGGGC	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2287-2289)cCc>cTc									82.0	78.0	79.0					9																	112900112		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900112C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1595C>T	9.37:g.112900112C>T	ENSP00000259318:p.Pro532Leu					AKAP2_ENST00000259318.7_Missense_Mutation_p.P532L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P763L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P621L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P621L|AKAP2_ENST00000555236.1_Missense_Mutation_p.P763L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P763L	p.P763L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2468	+			532					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2288C>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430224	0.43122	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.56444	1.82;1.81;1.82;1.81;1.13;0.47;0.46;1.1	5.96	5.96	0.96718	.	0.290587	0.38272	N	0.001746	T	0.31327	0.0793	N	0.17082	0.46	0.54753	D	0.999989	B;P;B;P;B;B;B;B	0.38729	0.043;0.644;0.049;0.472;0.341;0.047;0.047;0.028	B;B;B;B;B;B;B;B	0.36719	0.017;0.231;0.026;0.139;0.066;0.021;0.021;0.009	T	0.21621	-1.0240	10	0.06757	T	0.87	-21.9245	10.7669	0.46299	0.0:0.8561:0.0:0.1439	.	532;621;615;621;622;763;763;581	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	763;763;763;763;621;621;581;532	ENSP00000363654:P763L;ENSP00000305861:P763L;ENSP00000451476:P763L;ENSP00000421522:P763L;ENSP00000404782:P621L;ENSP00000363649:P621L;ENSP00000419268:P581L;ENSP00000259318:P532L	ENSP00000259318:P532L	P	+	2	0	PALM2-AKAP2;AKAP2	111939933	0.918000	0.31147	0.987000	0.45799	0.992000	0.81027	3.396000	0.52565	2.814000	0.96858	0.655000	0.94253	CCC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		10	172	0	0	0	1	0	10	172				
RELN	5649	broad.mit.edu	37	7	103180643	103180643	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:103180643C>T	ENST00000428762.1	-	44	7090		c.e44+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGGACTGACCTGATCGATA	0.493																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e44+1		reelin							67.0	67.0	67.0					7																	103180643		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180643C>T		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.6930+1G>A	7.37:g.103180643C>T						RELN_ENST00000428762.1_Splice_Site|RELN_ENST00000343529.5_Splice_Site				P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	7090	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091253	0.76756	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	102967879	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.256000	0.78350	2.793000	0.96121	0.655000	0.94253	.		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	6	96	0	0	0	1	0	6	96				
SMG7	9887	broad.mit.edu	37	1	183510184	183510184	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:183510184T>A	ENST00000347615.2	+	13	1480	c.1361T>A	c.(1360-1362)aTa>aAa	p.I454K	SMG7_ENST00000456731.2_Missense_Mutation_p.I412K|SMG7_ENST00000507469.1_Missense_Mutation_p.I454K|SMG7_ENST00000515829.2_Missense_Mutation_p.I454K|SMG7_ENST00000508461.1_Missense_Mutation_p.I412K|SMG7_ENST00000367537.3_Missense_Mutation_p.I483K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	454					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAACGACGAATACGACAGCAA	0.413																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1447-1449)aTa>aAa		SMG7 nonsense mediated mRNA decay factor							179.0	166.0	171.0					1																	183510184		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183510184T>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1361T>A	1.37:g.183510184T>A	ENSP00000340766:p.Ile454Lys					SMG7_ENST00000456731.2_Missense_Mutation_p.I412K|SMG7_ENST00000508461.1_Missense_Mutation_p.I412K|SMG7_ENST00000507469.1_Missense_Mutation_p.I454K|SMG7_ENST00000515829.2_Missense_Mutation_p.I454K|SMG7_ENST00000347615.2_Missense_Mutation_p.I454K	p.I483K			Q92540	SMG7_HUMAN			14	1643	+			454					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1448T>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856303	0.51376	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.69	5.69	0.88448	.	0.391866	0.30686	N	0.009099	T	0.13030	0.0316	N	0.14661	0.345	0.46654	D	0.999147	B;B;B;B;B;B	0.28128	0.201;0.09;0.09;0.145;0.201;0.201	B;B;B;B;B;B	0.29176	0.046;0.046;0.092;0.099;0.046;0.073	T	0.08953	-1.0697	10	0.54805	T	0.06	-2.1258	15.9584	0.79906	0.0:0.0:0.0:1.0	.	412;483;412;454;454;454	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	412;483;412;412;454;454;454	ENSP00000407629:I412K;ENSP00000356507:I483K;ENSP00000426915:I412K;ENSP00000388390:I412K;ENSP00000340766:I454K;ENSP00000425133:I454K;ENSP00000421358:I454K	ENSP00000340766:I454K	I	+	2	0	SMG7	181776807	1.000000	0.71417	0.518000	0.27811	0.723000	0.41478	5.315000	0.65810	2.165000	0.68154	0.528000	0.53228	ATA		0.413	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		9	204	0	0	0	1	0	9	204				
ZNF721	170960	broad.mit.edu	37	4	437596	437596	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:437596G>A	ENST00000338977.5	-	2	672	c.624C>T	c.(622-624)ccC>ccT	p.P208P	ZNF721_ENST00000511833.2_Silent_p.P220P|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTATCTC	0.378																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(622-624)ccC>ccT		zinc finger protein 721																																				SO:0001819	synonymous_variant	170960							g.chr4:437596G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.624C>T	4.37:g.437596G>A						ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.P220P|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron	p.P208P							2	672	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.624C>T																																																																																					0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		5	73	0	0	0	1	0	5	73				
STAU2	27067	broad.mit.edu	37	8	74526035	74526035	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:74526035G>A	ENST00000521451.1	-	4	551	c.175C>T	c.(175-177)Cct>Tct	p.P59S	STAU2_ENST00000521210.1_Missense_Mutation_p.P175S|STAU2_ENST00000522509.1_Missense_Mutation_p.P247S|STAU2_ENST00000524300.1_Missense_Mutation_p.P279S|STAU2_ENST00000522695.1_Missense_Mutation_p.P247S|STAU2_ENST00000523558.1_Missense_Mutation_p.P107S|STAU2_ENST00000355780.5_Missense_Mutation_p.P247S|STAU2_ENST00000517542.1_Missense_Mutation_p.P241S|STAU2_ENST00000521727.1_Missense_Mutation_p.P259S|STAU2_ENST00000519961.1_Missense_Mutation_p.P279S			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	279	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCACCACAGGAAGAGGTGGA	0.378																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(739-741)Cct>Tct		staufen double-stranded RNA binding protein 2							73.0	70.0	71.0					8																	74526035		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74526035G>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.175C>T	8.37:g.74526035G>A	ENSP00000428476:p.Pro59Ser					STAU2_ENST00000521727.1_Missense_Mutation_p.P259S|STAU2_ENST00000523558.1_Missense_Mutation_p.P107S|STAU2_ENST00000522695.1_Missense_Mutation_p.P247S|STAU2_ENST00000519961.1_Missense_Mutation_p.P279S|STAU2_ENST00000521210.1_Missense_Mutation_p.P175S|STAU2_ENST00000521451.1_Missense_Mutation_p.P59S|STAU2_ENST00000522509.1_Missense_Mutation_p.P247S|STAU2_ENST00000524300.1_Missense_Mutation_p.P279S|STAU2_ENST00000517542.1_Missense_Mutation_p.P241S	p.P247S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		8	957	-	Breast(64;0.0138)		279			DRBM 3.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.739C>T		.	.	.	.	.	.	.	.	.	.	G	18.33	3.600948	0.66332	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.51325	1.25;1.31;1.25;1.24;1.26;1.3;1.25;0.71;1.26;1.28;1.23	6.08	6.08	0.98989	.	0.048894	0.85682	D	0.000000	T	0.49881	0.1583	M	0.68593	2.085	0.80722	D	1	B;B;B;B;B;B;B;P	0.35307	0.051;0.077;0.079;0.077;0.084;0.087;0.214;0.494	B;B;B;B;B;B;B;B	0.31191	0.012;0.026;0.068;0.026;0.028;0.03;0.091;0.125	T	0.48103	-0.9064	10	0.42905	T	0.14	-37.1836	20.6647	0.99678	0.0:0.0:1.0:0.0	.	259;175;107;175;247;279;247;279	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	S	247;279;107;175;247;279;259;59;247;241;107	ENSP00000428456:P247S;ENSP00000428756:P279S;ENSP00000428741:P107S;ENSP00000429173:P175S;ENSP00000348026:P247S;ENSP00000430907:P279S;ENSP00000429973:P259S;ENSP00000428476:P59S;ENSP00000427977:P247S;ENSP00000431111:P241S;ENSP00000429005:P107S	ENSP00000344030:P107S	P	-	1	0	STAU2	74688589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.890000	0.99128	0.655000	0.94253	CCT		0.378	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		8	75	0	0	0	1	0	8	75				
SDK1	221935	broad.mit.edu	37	7	4259832	4259832	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:4259832C>T	ENST00000404826.2	+	39	5770	c.5631C>T	c.(5629-5631)ttC>ttT	p.F1877F	SDK1_ENST00000389531.3_Silent_p.F1857F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1877	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTATTTCTTCCGTGTCCAAG	0.622																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5629-5631)ttC>ttT		sidekick cell adhesion molecule 1							107.0	107.0	107.0					7																	4259832		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4259832C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5631C>T	7.37:g.4259832C>T						SDK1_ENST00000389531.3_Silent_p.F1857F	p.F1877F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	39	5770	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1877			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5631C>T	CCDS34590.1																																																																																				0.622	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	154	0	0	0	1	0	11	154				
HUWE1	10075	broad.mit.edu	37	X	53561067	53561067	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:53561067A>C	ENST00000342160.3	-	82	13380	c.12923T>G	c.(12922-12924)cTg>cGg	p.L4308R	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4308R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4308	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAGCCTTGCAGGGGTACCTT	0.522																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12922-12924)cTg>cGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							118.0	84.0	96.0					X																	53561067		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53561067A>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12923T>G	X.37:g.53561067A>C	ENSP00000340648:p.Leu4308Arg					HUWE1_ENST00000262854.6_Missense_Mutation_p.L4308R	p.L4308R			Q7Z6Z7	HUWE1_HUMAN			82	13380	-			4308			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12923T>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948270	0.34377	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.62105	0.05;0.05	5.42	5.42	0.78866	HECT (4);	0.000000	0.64402	D	0.000002	D	0.83110	0.5183	M	0.92219	3.285	0.80722	D	1	D;D	0.63880	0.993;0.991	D;D	0.75484	0.986;0.977	D	0.87237	0.2264	10	0.87932	D	0	.	13.6929	0.62559	1.0:0.0:0.0:0.0	.	4308;4292	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	4308	ENSP00000340648:L4308R;ENSP00000262854:L4308R	ENSP00000262854:L4308R	L	-	2	0	HUWE1	53577792	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.685000	0.74543	1.946000	0.56461	0.430000	0.28490	CTG		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	44	0	0	0	1	0	6	44				
IRS4	8471	broad.mit.edu	37	X	107977075	107977075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:107977075C>T	ENST00000372129.2	-	1	2576	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	834					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.G834R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGAACTTTCCAGGTAACATT	0.488																																						ENST00000372129.2																			1	Substitution - Missense(1)	p.G834R(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2500-2502)Gga>Aga		insulin receptor substrate 4							170.0	175.0	173.0					X																	107977075		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977075C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2500G>A	X.37:g.107977075C>T	ENSP00000361202:p.Gly834Arg						p.G834R	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2576	-			834						Missense_Mutation	SNP	ENST00000372129.2	37	c.2500G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393828	0.62066	.	.	ENSG00000133124	ENST00000372129	T	0.21734	1.99	5.18	4.31	0.51392	.	0.429490	0.21027	N	0.081418	T	0.31513	0.0799	M	0.74258	2.255	0.29335	N	0.86639	D	0.53312	0.959	P	0.46659	0.523	T	0.32693	-0.9897	10	0.72032	D	0.01	-13.7179	12.5406	0.56167	0.0:0.9186:0.0:0.0814	.	834	O14654	IRS4_HUMAN	R	834	ENSP00000361202:G834R	ENSP00000361202:G834R	G	-	1	0	IRS4	107863731	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.701000	0.37825	1.152000	0.42452	0.600000	0.82982	GGA		0.488	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		19	206	0	0	0	1	0	19	206				
ATP2B3	492	broad.mit.edu	37	X	152813321	152813321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:152813321G>A	ENST00000349466.2	+	8	1313	c.987G>A	c.(985-987)atG>atA	p.M329I	ATP2B3_ENST00000370186.1_Missense_Mutation_p.M315I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M315I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.M329I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M315I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.M329I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	329					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGCCATGGAGATGCAGC	0.582																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(943-945)atG>atA		ATPase, Ca++ transporting, plasma membrane 3							109.0	85.0	93.0					X																	152813321		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152813321G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.987G>A	X.37:g.152813321G>A	ENSP00000343886:p.Met329Ile					ATP2B3_ENST00000359149.3_Missense_Mutation_p.M329I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.M329I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.M329I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M315I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M315I	p.M315I			Q16720	AT2B3_HUMAN			7	1271	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		329					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.945G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447051	0.84101	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);	0.044190	0.85682	D	0.000000	D	0.90027	0.6886	L	0.36672	1.1	0.52099	D	0.999941	B;B	0.26635	0.155;0.125	B;B	0.29267	0.1;0.026	D	0.87075	0.2162	10	0.30078	T	0.28	-23.8036	16.6453	0.85175	0.0:0.0:1.0:0.0	.	329;329	Q16720;Q16720-2	AT2B3_HUMAN;.	I	315;329;315;329;329;315	ENSP00000359205:M315I;ENSP00000343886:M329I;ENSP00000377425:M315I;ENSP00000352062:M329I;ENSP00000263519:M329I;ENSP00000359200:M315I	ENSP00000263519:M329I	M	+	3	0	ATP2B3	152466515	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.212000	0.58514	2.275000	0.75901	0.436000	0.28706	ATG		0.582	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		5	44	0	0	0	1	0	5	44				
CMYA5	202333	broad.mit.edu	37	5	79031022	79031022	+	Missense_Mutation	SNP	C	C	T	rs201575046		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:79031022C>T	ENST00000446378.2	+	2	6465	c.6434C>T	c.(6433-6435)tCc>tTc	p.S2145F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2145					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGCCTCAATCCCCAGAGTCA	0.448																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6433-6435)tCc>tTc		cardiomyopathy associated 5		C	PHE/SER	0,3778		0,0,1889	85.0	82.0	83.0		6434	4.4	0.0	5		83	1,8223		0,1,4111	yes	missense	CMYA5	NM_153610.3	155	0,1,6000	TT,TC,CC		0.0122,0.0,0.0083	benign	2145/4070	79031022	1,12001	1889	4112	6001	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031022C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6434C>T	5.37:g.79031022C>T	ENSP00000394770:p.Ser2145Phe						p.S2145F	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6465	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2145					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6434C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136753	0.37728	0.0	1.22E-4	ENSG00000164309	ENST00000446378	T	0.03951	3.75	6.16	4.4	0.53042	.	0.910744	0.09369	N	0.811539	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.34780	0.468	B	0.30646	0.118	T	0.46442	-0.9191	10	0.66056	D	0.02	.	9.651	0.39897	0.0:0.8556:0.0:0.1444	.	2145	Q8N3K9	CMYA5_HUMAN	F	2145	ENSP00000394770:S2145F	ENSP00000394770:S2145F	S	+	2	0	CMYA5	79066778	0.000000	0.05858	0.001000	0.08648	0.205000	0.24178	-0.146000	0.10250	0.946000	0.37632	0.650000	0.86243	TCC		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		6	111	0	0	0	1	0	6	111				
TIGD2	166815	broad.mit.edu	37	4	90035653	90035653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:90035653C>T	ENST00000317005.2	+	1	1686	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	510						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGGAGGCTTCGGACCATAAT	0.343																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(1528-1530)Cgg>Tgg		tigger transposable element derived 2							64.0	71.0	69.0					4																	90035653		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90035653C>T	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1528C>T	4.37:g.90035653C>T	ENSP00000317170:p.Arg510Trp						p.R510W	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	1686	+		Hepatocellular(203;0.114)	510						Missense_Mutation	SNP	ENST00000317005.2	37	c.1528C>T	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	C	9.889	1.203639	0.22121	.	.	ENSG00000180346	ENST00000317005	T	0.32515	1.45	4.31	3.45	0.39498	.	0.000000	0.39759	N	0.001271	T	0.28234	0.0697	L	0.46157	1.445	0.09310	N	0.999998	D	0.69078	0.997	P	0.44597	0.454	T	0.15235	-1.0444	10	0.87932	D	0	-4.709	9.3591	0.38184	0.2135:0.7865:0.0:0.0	.	510	Q4W5G0	TIGD2_HUMAN	W	510	ENSP00000317170:R510W	ENSP00000317170:R510W	R	+	1	2	TIGD2	90254676	0.986000	0.35501	0.440000	0.26846	0.842000	0.47809	0.124000	0.15728	1.004000	0.39156	0.467000	0.42956	CGG		0.343	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		10	131	0	0	0	1	0	10	131				
QSOX2	169714	broad.mit.edu	37	9	139100648	139100648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139100648G>A	ENST00000358701.5	-	12	2060	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	675					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ATCACCATGAGGAACAGGGAT	0.637																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(2023-2025)Ctc>Ttc		quiescin Q6 sulfhydryl oxidase 2							143.0	121.0	129.0					9																	139100648		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100648G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2023C>T	9.37:g.139100648G>A	ENSP00000351536:p.Leu675Phe						p.L675F	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	2060	-		Myeloproliferative disorder(178;0.0511)	675					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.2023C>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028629	0.75390	.	.	ENSG00000165661	ENST00000358701	T	0.28666	1.6	5.09	4.07	0.47477	.	0.000000	0.64402	D	0.000010	T	0.48205	0.1487	M	0.65498	2.005	0.44807	D	0.997812	D	0.89917	1.0	D	0.85130	0.997	T	0.48614	-0.9020	10	0.72032	D	0.01	-24.2648	6.8267	0.23887	0.1942:0.0:0.8058:0.0	.	675	Q6ZRP7	QSOX2_HUMAN	F	675	ENSP00000351536:L675F	ENSP00000351536:L675F	L	-	1	0	QSOX2	138240469	1.000000	0.71417	0.949000	0.38748	0.922000	0.55478	1.853000	0.39358	2.354000	0.79902	0.558000	0.71614	CTC		0.637	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		10	155	0	0	0	1	0	10	155				
FAM135B	51059	broad.mit.edu	37	8	139164952	139164952	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:139164952C>T	ENST00000395297.1	-	13	1936	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	589										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCCCAGTCCTGTCTAATCC	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1765-1767)aGg>aAg		family with sequence similarity 135, member B							172.0	163.0	166.0					8																	139164952		1911	4127	6038	SO:0001583	missense	51059							g.chr8:139164952C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1766G>A	8.37:g.139164952C>T	ENSP00000378710:p.Arg589Lys	HNSCC(54;0.14)					p.R589K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1936	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		589					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1766G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505281	0.26949	.	.	ENSG00000147724	ENST00000395297	T	0.14144	2.53	5.08	2.19	0.27852	.	1.357480	0.04426	N	0.368484	T	0.11707	0.0285	L	0.36672	1.1	0.09310	N	1	B;B;B	0.24258	0.1;0.009;0.001	B;B;B	0.17433	0.018;0.018;0.001	T	0.37820	-0.9689	10	0.16896	T	0.51	-0.4654	7.2542	0.26166	0.0:0.7017:0.1397:0.1587	.	589;589;589	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	589	ENSP00000378710:R589K	ENSP00000276737:R589K	R	-	2	0	FAM135B	139234134	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.671000	0.25172	0.223000	0.20920	0.655000	0.94253	AGG		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		17	199	0	0	0	1	0	17	199				
MED27	9442	broad.mit.edu	37	9	134952909	134952909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:134952909C>T	ENST00000292035.5	-	2	331	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	MED27_ENST00000474263.1_Missense_Mutation_p.G90R|MED27_ENST00000357028.2_Missense_Mutation_p.G90R|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	90					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTAACAGCCCACTGTTATGA	0.443																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(268-270)Ggg>Agg		mediator complex subunit 27							151.0	139.0	143.0					9																	134952909		2203	4297	6500	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134952909C>T	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.268G>A	9.37:g.134952909C>T	ENSP00000292035:p.Gly90Arg					MED27_ENST00000372184.3_Missense_Mutation_p.G90R|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000357028.2_Missense_Mutation_p.G52R|RP11-32B11.2_ENST00000444872.2_RNA	p.G90R	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	2	331	-		Myeloproliferative disorder(178;0.206)	90					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.268G>A	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125670	0.94429	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.97	T	0.74928	-0.3497	8	.	.	.	-0.5585	18.3976	0.90504	0.0:1.0:0.0:0.0	.	90;90;90	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	R	90;52;90	.	.	G	-	1	0	MED27	133942730	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.758000	0.85224	2.662000	0.90505	0.591000	0.81541	GGG		0.443	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		23	165	0	0	0	1	0	23	165				
MUC16	94025	broad.mit.edu	37	19	9080472	9080472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9080472C>T	ENST00000397910.4	-	2	9762	c.9559G>A	c.(9559-9561)Gag>Aag	p.E3187K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3188	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCCCGTCTCCTCTGCTGGG	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9559-9561)Gag>Aag		mucin 16, cell surface associated							139.0	136.0	137.0					19																	9080472		1931	4116	6047	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9080472C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9559G>A	19.37:g.9080472C>T	ENSP00000381008:p.Glu3187Lys						p.E3187K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			2	9762	-			3188			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9559G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.129	-1.115847	0.01799	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.926	-1.85	0.07784	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44802	-0.9304	8	0.87932	D	0	.	4.6609	0.12641	0.0:0.5194:0.1986:0.282	.	3187	B5ME49	.	K	3187	ENSP00000381008:E3187K	ENSP00000381008:E3187K	E	-	1	0	MUC16	8941472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.915000	0.04033	-2.940000	0.00297	-1.786000	0.00637	GAG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	110	0	0	0	1	0	5	110				
OR13F1	138805	broad.mit.edu	37	9	107266781	107266781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:107266781C>T	ENST00000334726.2	+	1	327	c.238C>T	c.(238-240)Cca>Tca	p.P80S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCCCTCTCTCCAATGCTGGC	0.507																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(238-240)Cca>Tca		olfactory receptor, family 13, subfamily F, member 1							160.0	141.0	148.0					9																	107266781		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266781C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.238C>T	9.37:g.107266781C>T	ENSP00000334452:p.Pro80Ser						p.P80S	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	327	+			80					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.238C>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298471	0.23650	.	.	ENSG00000186881	ENST00000334726	T	0.01313	5.02	3.91	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.139530	0.33057	N	0.005325	T	0.01287	0.0042	L	0.31065	0.9	0.26087	N	0.981005	P	0.43542	0.81	B	0.39904	0.313	T	0.53436	-0.8439	10	0.30854	T	0.27	.	7.5464	0.27770	0.0:0.8843:0.0:0.1157	.	80	Q8NGS4	O13F1_HUMAN	S	80	ENSP00000334452:P80S	ENSP00000334452:P80S	P	+	1	0	OR13F1	106306602	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	0.097000	0.15168	1.218000	0.43458	0.650000	0.86243	CCA		0.507	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			10	161	0	0	0	1	0	10	161				
KIAA1024	23251	broad.mit.edu	37	15	79749370	79749370	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:79749370C>T	ENST00000305428.3	+	2	956	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	294						integral component of membrane (GO:0016021)		p.P294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAAAGGAACCCCACAAGCCA	0.502																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.P294L(1)	central_nervous_system(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(880-882)cCc>cTc		KIAA1024							135.0	149.0	144.0					15																	79749370		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749370C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.881C>T	15.37:g.79749370C>T	ENSP00000307461:p.Pro294Leu						p.P294L	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	956	+			294					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.881C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	1.444	-0.566922	0.03910	.	.	ENSG00000169330	ENST00000305428	T	0.29397	1.57	5.12	2.15	0.27550	.	1.370620	0.04569	N	0.392962	T	0.14098	0.0341	N	0.04508	-0.205	0.19775	N	0.999954	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	9	.	.	.	.	3.7517	0.08569	0.1275:0.5782:0.1393:0.155	.	294	Q9UPX6	K1024_HUMAN	L	294	ENSP00000307461:P294L	.	P	+	2	0	KIAA1024	77536425	0.000000	0.05858	0.109000	0.21407	0.098000	0.18820	0.499000	0.22546	0.161000	0.19458	-1.057000	0.02308	CCC		0.502	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		9	173	0	0	0	1	0	9	173				
RP1	6101	broad.mit.edu	37	8	55541555	55541555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:55541555G>A	ENST00000220676.1	+	4	5261	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1705					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATAAGTGTGATGTTAGTGC	0.408																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5113-5115)Gat>Aat		retinitis pigmentosa 1 (autosomal dominant)							172.0	171.0	171.0					8																	55541555		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541555G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5113G>A	8.37:g.55541555G>A	ENSP00000220676:p.Asp1705Asn						p.D1705N	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5261	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1705						Missense_Mutation	SNP	ENST00000220676.1	37	c.5113G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	3.440	-0.114360	0.06881	.	.	ENSG00000104237	ENST00000220676	T	0.23552	1.9	5.93	1.82	0.25136	.	1.037820	0.07631	N	0.928609	T	0.27629	0.0679	M	0.62723	1.935	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.28396	-1.0045	10	0.45353	T	0.12	-1.4724	8.9576	0.35827	0.4532:0.0:0.5468:0.0	.	1705	P56715	RP1_HUMAN	N	1705	ENSP00000220676:D1705N	ENSP00000220676:D1705N	D	+	1	0	RP1	55704108	0.407000	0.25352	0.066000	0.19879	0.018000	0.09664	1.050000	0.30404	0.705000	0.31890	-0.345000	0.07892	GAT		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		25	173	0	0	0	1	0	25	173				
DPP3	10072	broad.mit.edu	37	11	66276599	66276599	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:66276599C>T	ENST00000360510.2	+	18	2156	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	DPP3_ENST00000453114.1_Silent_p.I697I|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000531863.1_Silent_p.I717I|BBS1_ENST00000393994.2_5'Flank|BBS1_ENST00000455748.2_5'Flank|DPP3_ENST00000530165.1_Silent_p.I667I|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000532677.1_Silent_p.I716I|DPP3_ENST00000541961.1_Silent_p.I697I|BBS1_ENST00000318312.7_5'Flank			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	697				I -> Y (in Ref. 5; BAA75785). {ECO:0000305}.	proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGCCTCATCCGATCCTTCT	0.582																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2146-2148)atC>atT		dipeptidyl-peptidase 3							77.0	73.0	74.0					11																	66276599		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66276599C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2091C>T	11.37:g.66276599C>T						CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000453114.1_Silent_p.I697I|DPP3_ENST00000541961.1_Silent_p.I697I|DPP3_ENST00000360510.2_Silent_p.I697I|DPP3_ENST00000531863.1_Silent_p.I717I|DPP3_ENST00000530165.1_Silent_p.I667I	p.I716I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			18	2549	+			697					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.2148C>T	CCDS8141.1																																																																																				0.582	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			9	93	0	0	0	1	0	9	93				
DOCK2	1794	broad.mit.edu	37	5	169127106	169127106	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:169127106G>A	ENST00000256935.8	+	13	1301	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	407					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACCGTGGTGGCCAGGAAGC	0.552																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1219-1221)gtG>gtA		dedicator of cytokinesis 2							151.0	140.0	144.0					5																	169127106		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169127106G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1221G>A	5.37:g.169127106G>A							p.V407V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1301	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	407					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.1221G>A	CCDS4371.1																																																																																				0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		10	227	0	0	0	1	0	10	227				
DCHS1	8642	broad.mit.edu	37	11	6655466	6655466	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:6655466G>A	ENST00000299441.3	-	3	2280	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGATCCGGAGGACCCAAGTC	0.612																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1867-1869)tcC>tcT		dachsous cadherin-related 1							87.0	94.0	92.0					11																	6655466		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655466G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1869C>T	11.37:g.6655466G>A						RP11-732A19.6_ENST00000526633.1_RNA	p.S623S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	2280	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	623			Cadherin 6.		O15098	Silent	SNP	ENST00000299441.3	37	c.1869C>T	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	117	0	0	0	1	0	5	117				
PTCHD4	442213	broad.mit.edu	37	6	47847229	47847229	+	Missense_Mutation	SNP	G	G	A	rs371181867		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:47847229G>A	ENST00000339488.4	-	3	1384	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	451						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TAATGTTCACGGAGGAAGTGC	0.448																																						ENST00000339488.4																			0											c.(1351-1353)Cgt>Tgt		patched domain containing 4							134.0	120.0	125.0					6																	47847229		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847229G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1351C>T	6.37:g.47847229G>A	ENSP00000341914:p.Arg451Cys						p.R451C	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1384	-			451					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1351C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162207	0.57368	.	.	ENSG00000244694	ENST00000339488	D	0.86230	-2.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.92079	0.5671	10	0.66056	D	0.02	.	19.6777	0.95943	0.0:0.0:1.0:0.0	.	451	Q6ZW05	CF138_HUMAN	C	451	ENSP00000341914:R451C	ENSP00000341914:R451C	R	-	1	0	C6orf138	47955188	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	5.983000	0.70540	2.669000	0.90835	0.650000	0.86243	CGT		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	93	0	0	0	1	0	5	93				
RPL4	6124	broad.mit.edu	37	15	66793304	66793304	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:66793304G>A	ENST00000307961.6	-	7	908	c.816C>T	c.(814-816)tcC>tcT	p.S272S	RPL4_ENST00000568588.1_Silent_p.S178S|SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	272					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TACTCTTGAGGGAAGCGGCTT	0.398																																						ENST00000307961.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(814-816)tcC>tcT		ribosomal protein L4							90.0	89.0	89.0					15																	66793304		2201	4299	6500	SO:0001819	synonymous_variant	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793304G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.816C>T	15.37:g.66793304G>A						RPL4_ENST00000568588.1_Silent_p.S178S	p.S272S	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN			7	908	-			272					A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	ENST00000307961.6	37	c.816C>T	CCDS10218.1																																																																																				0.398	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		7	98	0	0	0	1	0	7	98				
MYH6	4624	broad.mit.edu	37	14	23863408	23863408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:23863408C>T	ENST00000356287.3	-	20	2583	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	MYH6_ENST00000405093.3_Missense_Mutation_p.A852T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	852					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCATGGTGGCCATCTCCTTC	0.572																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2554-2556)Gcc>Acc		myosin, heavy chain 6, cardiac muscle, alpha							134.0	119.0	124.0					14																	23863408		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863408C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2554G>A	14.37:g.23863408C>T	ENSP00000348634:p.Ala852Thr					MYH6_ENST00000356287.3_Missense_Mutation_p.A852T	p.A852T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2624	-	all_cancers(95;2.54e-05)		852					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2554G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.681560	0.88542	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.94000	-3.33;-3.33	4.57	4.57	0.56435	.	.	.	.	.	D	0.94076	0.8101	M	0.78456	2.415	0.58432	D	0.999996	P	0.42735	0.788	P	0.44623	0.455	D	0.95091	0.8222	9	0.72032	D	0.01	.	16.3119	0.82874	0.0:1.0:0.0:0.0	.	852	P13533	MYH6_HUMAN	T	852	ENSP00000386041:A852T;ENSP00000348634:A852T	ENSP00000348634:A852T	A	-	1	0	MYH6	22933248	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.271000	0.78506	2.274000	0.75844	0.555000	0.69702	GCC		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			6	80	0	0	0	1	0	6	80				
COL11A2	1302	broad.mit.edu	37	6	33137856	33137856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33137856C>T	ENST00000374708.4	-	47	3604	c.3346G>A	c.(3346-3348)Ggt>Agt	p.G1116S	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1176S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1155S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1142S|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1202S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1095S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1181S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1121S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1202	Collagen-like 6.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTCCCAACACCTCCTGGGGGA	0.562																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3604-3606)Ggt>Agt		collagen, type XI, alpha 2							80.0	84.0	83.0					6																	33137856		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137856C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3346G>A	6.37:g.33137856C>T	ENSP00000363840:p.Gly1116Ser					COL11A2_ENST00000361917.1_Missense_Mutation_p.G1095S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1155S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1176S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1181S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1142S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1121S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1116S|COL11A2_ENST00000477772.1_Intron	p.G1202S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			49	3831	-			1202			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3604G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944622	0.53079	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	N	0.04245	-0.25	0.80722	D	1	P;P;P	0.49961	0.93;0.93;0.884	P;P;P	0.50162	0.633;0.633;0.516	T	0.83060	-0.0148	10	0.13853	T	0.58	.	14.7784	0.69746	0.0:1.0:0.0:0.0	.	1095;1116;1202	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	1116;1202;1181;1176;1155;1142;1121;1095	ENSP00000363840:G1116S;ENSP00000339915:G1202S;ENSP00000350079:G1181S;ENSP00000363846:G1176S;ENSP00000363845:G1155S;ENSP00000378623:G1142S;ENSP00000363844:G1121S;ENSP00000355123:G1095S	ENSP00000339915:G1202S	G	-	1	0	COL11A2	33245834	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.511000	0.81718	2.355000	0.79922	0.549000	0.68633	GGT		0.562	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			6	105	0	0	0	1	0	6	105				
FRYL	285527	broad.mit.edu	37	4	48512910	48512910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:48512910G>A	ENST00000503238.1	-	55	8236	c.8237C>T	c.(8236-8238)tCc>tTc	p.S2746F	FRYL_ENST00000507873.2_Missense_Mutation_p.S142F|FRYL_ENST00000358350.4_Missense_Mutation_p.S2746F|FRYL_ENST00000537810.1_Missense_Mutation_p.S2746F|FRYL_ENST00000264319.7_Missense_Mutation_p.S142F			O94915	FRYL_HUMAN	FRY-like	2746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACTTCCAAGGAACTTTTAAA	0.373																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8236-8238)tCc>tTc		FRY-like							117.0	110.0	113.0					4																	48512910		1899	4116	6015	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512910G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8237C>T	4.37:g.48512910G>A	ENSP00000426064:p.Ser2746Phe					FRYL_ENST00000264319.7_Missense_Mutation_p.S142F|FRYL_ENST00000537810.1_Missense_Mutation_p.S2746F|FRYL_ENST00000507873.2_Missense_Mutation_p.S142F|FRYL_ENST00000503238.1_Missense_Mutation_p.S2746F	p.S2746F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			58	8841	-			2746					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8237C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639249	0.47153	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.24350	1.86;1.86;1.87	5.73	5.73	0.89815	.	0.000000	0.64402	U	0.000007	T	0.50188	0.1601	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.91635	0.961;0.983;0.999	T	0.14952	-1.0454	10	0.26408	T	0.33	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	2746;2746;142	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	F	2746;2746;2746;142;142	ENSP00000426064:S2746F;ENSP00000351113:S2746F;ENSP00000441114:S2746F	ENSP00000264319:S142F	S	-	2	0	FRYL	48207667	1.000000	0.71417	0.570000	0.28473	0.026000	0.11368	9.328000	0.96403	2.854000	0.98071	0.655000	0.94253	TCC		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			18	163	0	0	0	1	0	18	163				
MYH15	22989	broad.mit.edu	37	3	108218300	108218300	+	Splice_Site	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:108218300A>G	ENST00000273353.3	-	6	641		c.e6+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAAACACTTACGTGAAGAGT	0.313																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.e6+1		myosin, heavy chain 15							78.0	77.0	77.0					3																	108218300		1817	4078	5895	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108218300A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.584+1T>C	3.37:g.108218300A>G								NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			6	641	-									Splice_Site	SNP	ENST00000273353.3	37		CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004593	0.35320	.	.	ENSG00000144821	ENST00000273353	.	.	.	4.38	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8084	0.46531	0.8408:0.1591:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH15	109700990	1.000000	0.71417	0.725000	0.30721	0.374000	0.29953	2.197000	0.42696	0.787000	0.33731	0.533000	0.62120	.		0.313	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Intron	4	54	0	0	0	1	0	4	54				
PKD1L1	168507	broad.mit.edu	37	7	47942079	47942079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:47942079G>A	ENST00000289672.2	-	13	2011	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	654	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTATTGAAGGCAAGGACCTC	0.488																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1960-1962)gCc>gTc		polycystic kidney disease 1 like 1							86.0	83.0	84.0					7																	47942079		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47942079G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1961C>T	7.37:g.47942079G>A	ENSP00000289672:p.Ala654Val						p.A654V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			13	2011	-			654			PKD 2.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1961C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507838	0.44558	.	.	ENSG00000158683	ENST00000289672	T	0.57273	0.41	5.14	3.06	0.35304	PKD/Chitinase domain (1);PKD domain (4);	0.437325	0.20664	N	0.087976	T	0.29355	0.0731	N	0.11201	0.11	0.25958	N	0.982666	P	0.48089	0.905	B	0.43331	0.416	T	0.05419	-1.0886	10	0.28530	T	0.3	-15.0054	4.748	0.13047	0.3885:0.0:0.6115:0.0	.	654	Q8TDX9	PK1L1_HUMAN	V	654	ENSP00000289672:A654V	ENSP00000289672:A654V	A	-	2	0	PKD1L1	47908604	1.000000	0.71417	0.989000	0.46669	0.473000	0.32948	2.871000	0.48459	1.179000	0.42884	0.650000	0.86243	GCC		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	69	0	0	0	1	0	4	69				
BIRC3	330	broad.mit.edu	37	11	102195384	102195384	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:102195384G>A	ENST00000263464.3	+	2	2894	c.144G>A	c.(142-144)agG>agA	p.R48R	BIRC3_ENST00000532808.1_Silent_p.R48R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCTCAGAAAGGAGTCTTGCTC	0.458			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(142-144)agG>agA		baculoviral IAP repeat containing 3							162.0	152.0	156.0					11																	102195384		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195384G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.144G>A	11.37:g.102195384G>A						BIRC3_ENST00000532808.1_Silent_p.R48R	p.R48R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2894	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	48					Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.144G>A	CCDS8315.1																																																																																				0.458	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		7	147	0	0	0	1	0	7	147				
CCDC8	83987	broad.mit.edu	37	19	46915888	46915888	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46915888C>T	ENST00000307522.3	-	1	953	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	60					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gggtgctcttctccatgatgc	0.657																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(178-180)gaG>gaA		coiled-coil domain containing 8							42.0	47.0	46.0					19																	46915888		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915888C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.180G>A	19.37:g.46915888C>T							p.E60E	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	953	-			60					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.180G>A	CCDS12685.1																																																																																				0.657	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		6	90	0	0	0	1	0	6	90				
DOPEY1	23033	broad.mit.edu	37	6	83847819	83847819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:83847819G>A	ENST00000349129.2	+	21	4318	c.4058G>A	c.(4057-4059)gGa>gAa	p.G1353E	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344E|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334E|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					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)		GGTTCTCCAGGATCTCGAAAA	0.418																																						ENST00000349129.2																			0				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						c.(4057-4059)gGa>gAa		dopey family member 1							108.0	110.0	109.0					6																	83847819		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83847819G>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.4058G>A	6.37:g.83847819G>A	ENSP00000195654:p.Gly1353Glu					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334E|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344E	p.G1353E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4318	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1353					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4058G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162840	0.38217	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26067	1.77;1.76	6.16	6.16	0.99307	.	0.163705	0.53938	D	0.000048	T	0.17066	0.0410	N	0.19112	0.55	0.80722	D	1	P;P;P	0.50443	0.935;0.799;0.799	P;B;B	0.47864	0.559;0.323;0.323	T	0.01059	-1.1465	10	0.33141	T	0.24	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1244;1344;1353	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	E	1353;1334;1334	ENSP00000195654:G1353E;ENSP00000237163:G1334E	ENSP00000237163:G1334E	G	+	2	0	DOPEY1	83904538	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.101000	0.71479	2.937000	0.99478	0.650000	0.86243	GGA		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		17	183	0	0	0	1	0	17	183				
ZNF506	440515	broad.mit.edu	37	19	19917754	19917754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19917754G>A	ENST00000540806.2	-	2	215	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.L43F|ZNF506_ENST00000443905.2_Missense_Mutation_p.L43F|ZNF506_ENST00000587461.1_Missense_Mutation_p.L43F|ZNF506_ENST00000545006.1_Missense_Mutation_p.L43F|ZNF506_ENST00000587452.1_Missense_Mutation_p.L43F			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCCTCACCAAGGAAGATCAGG	0.363																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(127-129)Ctt>Ttt		zinc finger protein 506							91.0	98.0	96.0					19																	19917754		2203	4300	6503	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19917754G>A	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.127C>T	19.37:g.19917754G>A	ENSP00000440625:p.Leu43Phe					ZNF506_ENST00000540806.2_Missense_Mutation_p.L43F|ZNF506_ENST00000587461.1_Missense_Mutation_p.L43F|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Missense_Mutation_p.L43F|ZNF506_ENST00000545006.1_Missense_Mutation_p.L43F|ZNF506_ENST00000450683.2_Missense_Mutation_p.L43F	p.L43F			Q5JVG8	ZN506_HUMAN			2	274	-			43			KRAB.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.127C>T	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.967635	0.34754	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683;ENST00000545006	T;T;T;T	0.02787	4.16;4.16;4.16;4.16	0.984	0.984	0.19773	Krueppel-associated box (4);	.	.	.	.	T	0.18299	0.0439	H	0.95151	3.63	0.26081	N	0.98109	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.03829	-1.1000	9	0.87932	D	0	.	5.212	0.15322	0.0:0.0:1.0:0.0	.	43;43	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	F	43	ENSP00000393835:L43F;ENSP00000440625:L43F;ENSP00000408892:L43F;ENSP00000445149:L43F	ENSP00000393835:L43F	L	-	1	0	ZNF506	19778754	0.892000	0.30473	0.181000	0.23098	0.164000	0.22412	0.911000	0.28584	0.430000	0.26230	0.430000	0.28490	CTT		0.363	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		8	156	0	0	0	1	0	8	156				
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	C	T	rs145870917		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:7863183C>T	ENST00000361923.2	+	8	1121	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PER3_ENST00000377532.3_Missense_Mutation_p.R317C|PER3_ENST00000377541.1_Missense_Mutation_p.R316C	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	316	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(949-951)Cgt>Tgt		period circadian clock 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	161.0	169.0		946	4.1	0.8	1	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PER3	NM_016831.1	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	316/1202	7863183	2,13004	2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7863183C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.946C>T	1.37:g.7863183C>T	ENSP00000355031:p.Arg316Cys					PER3_ENST00000377541.1_Missense_Mutation_p.R316C|PER3_ENST00000361923.2_Missense_Mutation_p.R316C	p.R317C			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	8	1173	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	316			PAS 2.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.949C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981474	0.74474	2.27E-4	1.16E-4	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.20598	2.06;2.06;2.06	4.13	4.13	0.48395	PAS fold-3 (1);PAS (2);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.995;0.991;0.989	T	0.66131	-0.6000	10	0.87932	D	0	.	15.5746	0.76365	0.0:1.0:0.0:0.0	.	316;317;317;316	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	C	316;317;316	ENSP00000366764:R316C;ENSP00000366755:R317C;ENSP00000355031:R316C	ENSP00000355031:R316C	R	+	1	0	PER3	7785770	1.000000	0.71417	0.794000	0.32065	0.986000	0.74619	2.792000	0.47837	2.157000	0.67596	0.650000	0.86243	CGT		0.428	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		5	116	0	0	0	1	0	5	116				
OR6N2	81442	broad.mit.edu	37	1	158746811	158746811	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:158746811G>A	ENST00000339258.1	-	1	614	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAAGAATTATGAAAGCATTAA	0.393																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(613-615)ttC>ttT		olfactory receptor, family 6, subfamily N, member 2							53.0	52.0	52.0					1																	158746811		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746811G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.615C>T	1.37:g.158746811G>A							p.F205F	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	614	-	all_hematologic(112;0.0378)		205					Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.615C>T	CCDS30906.1																																																																																				0.393	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			6	64	0	0	0	1	0	6	64				
EPHA7	2045	broad.mit.edu	37	6	94120848	94120848	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:94120848A>T	ENST00000369303.4	-	3	387	c.203T>A	c.(202-204)aTa>aAa	p.I68K	EPHA7_ENST00000369297.1_Missense_Mutation_p.I68K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	68	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTATGTTCGTATCGGGGTATA	0.393																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(202-204)aTa>aAa		EPH receptor A7							98.0	104.0	102.0					6																	94120848		2190	4293	6483	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120848A>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.203T>A	6.37:g.94120848A>T	ENSP00000358309:p.Ile68Lys					EPHA7_ENST00000369297.1_Missense_Mutation_p.I68K	p.I68K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	387	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	68					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.203T>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506988	0.85282	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03920	3.76;3.76	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	0.988;0.998;1.0;1.0	D;D;D;D	0.97110	0.965;0.998;0.999;1.0	T	0.07966	-1.0745	10	0.87932	D	0	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	68;68;68;68	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	K	68	ENSP00000358309:I68K;ENSP00000358303:I68K	ENSP00000358303:I68K	I	-	2	0	EPHA7	94177569	1.000000	0.71417	0.852000	0.33557	0.989000	0.77384	7.277000	0.78572	2.219000	0.72066	0.533000	0.62120	ATA		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			12	149	0	0	0	1	0	12	149				
TSC2	7249	broad.mit.edu	37	16	2132475	2132475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:2132475G>A	ENST00000219476.3	+	32	4483	c.3853G>A	c.(3853-3855)Gga>Aga	p.G1285R	TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.G1242R|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1285					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTGCCAAGGACAGCTGCA	0.632			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3853-3855)Gga>Aga		tuberous sclerosis 2							114.0	103.0	107.0					16																	2132475		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2132475G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3853G>A	16.37:g.2132475G>A	ENSP00000219476:p.Gly1285Arg					TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.G1242R|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Intron	p.G1285R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			32	4483	+		Hepatocellular(780;0.0202)	1285					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3853G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335505	0.41398	.	.	ENSG00000103197	ENST00000219476;ENST00000353929	D;D	0.89810	-2.51;-2.57	4.55	4.55	0.56014	.	0.129641	0.51477	D	0.000089	D	0.87265	0.6134	L	0.27053	0.805	0.58432	D	0.999999	B;D	0.69078	0.043;0.997	B;P	0.54856	0.042;0.762	D	0.84379	0.0548	10	0.14252	T	0.57	-15.3059	17.3409	0.87296	0.0:0.0:1.0:0.0	.	1241;1285	P49815-3;P49815	.;TSC2_HUMAN	R	1285;1242	ENSP00000219476:G1285R;ENSP00000248099:G1242R	ENSP00000219476:G1285R	G	+	1	0	TSC2	2072476	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.737000	0.47393	2.092000	0.63282	0.561000	0.74099	GGA		0.632	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		8	187	0	0	0	1	0	8	187				
TAS2R13	50838	broad.mit.edu	37	12	11061487	11061487	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11061487G>A	ENST00000390677.2	-	1	674	c.411C>T	c.(409-411)acC>acT	p.T137T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	137					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T137T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353																																						ENST00000390677.2																			1	Substitution - coding silent(1)	p.T137T(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(409-411)acC>acT		taste receptor, type 2, member 13							66.0	69.0	68.0					12																	11061487		2203	4300	6503	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061487G>A	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.411C>T	12.37:g.11061487G>A						PRR4_ENST00000536668.1_Intron	p.T137T	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	674	-			137					Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.411C>T	CCDS8635.1																																																																																				0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			6	113	0	0	0	1	0	6	113				
USP34	9736	broad.mit.edu	37	2	61508292	61508292	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:61508292A>G	ENST00000398571.2	-	38	5160	c.5084T>C	c.(5083-5085)tTt>tCt	p.F1695S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1695					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAATAGCAGAAAAGAACGATT	0.398																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5083-5085)tTt>tCt		ubiquitin specific peptidase 34							75.0	72.0	73.0					2																	61508292		1902	4111	6013	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61508292A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5084T>C	2.37:g.61508292A>G	ENSP00000381577:p.Phe1695Ser						p.F1695S	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		38	5160	-			1695					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5084T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.926033	0.73327	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03607	3.87	5.48	4.32	0.51571	.	0.050980	0.85682	N	0.000000	T	0.08714	0.0216	L	0.43152	1.355	0.54753	D	0.999984	D	0.54601	0.967	P	0.58172	0.834	T	0.30851	-0.9964	10	0.30854	T	0.27	.	11.1804	0.48625	0.9278:0.0:0.0722:0.0	.	1695	Q70CQ2	UBP34_HUMAN	S	1543;1543;1695	ENSP00000381577:F1695S	ENSP00000263989:F1543S	F	-	2	0	USP34	61361796	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	9.108000	0.94275	0.915000	0.36847	0.377000	0.23210	TTT		0.398	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	37	0	0	0	1	0	4	37				
TEX29	121793	broad.mit.edu	37	13	111992217	111992217	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:111992217C>T	ENST00000283547.1	+	4	306	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	59						integral component of membrane (GO:0016021)											CAGTTTACATCCACGTGTTCT	0.488																																						ENST00000283547.1																			0											c.(175-177)atC>atT		testis expressed 29							234.0	216.0	222.0					13																	111992217		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111992217C>T	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.177C>T	13.37:g.111992217C>T							p.I59I	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			4	306	+			59						Silent	SNP	ENST00000283547.1	37	c.177C>T	CCDS9522.1																																																																																				0.488	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		5	125	0	0	0	1	0	5	125				
MUC16	94025	broad.mit.edu	37	19	9083683	9083683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9083683C>T	ENST00000397910.4	-	1	8335	c.8132G>A	c.(8131-8133)gGa>gAa	p.G2711E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2711	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTGATTCCAGGGATGCT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8131-8133)gGa>gAa		mucin 16, cell surface associated							131.0	122.0	125.0					19																	9083683		1923	4134	6057	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083683C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8132G>A	19.37:g.9083683C>T	ENSP00000381008:p.Gly2711Glu						p.G2711E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	8335	-			2711			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8132G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.930	0.963129	0.18583	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	0.235	0.235	0.15431	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.76575	0.988	T	0.41466	-0.9507	7	0.87932	D	0	.	.	.	.	.	2711	B5ME49	.	E	2711	ENSP00000381008:G2711E	ENSP00000381008:G2711E	G	-	2	0	MUC16	8944683	0.829000	0.29322	0.720000	0.30636	0.725000	0.41563	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GGA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	136	0	0	0	1	0	8	136				
OR5H14	403273	broad.mit.edu	37	3	97868626	97868626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:97868626C>T	ENST00000437310.1	+	1	457	c.397C>T	c.(397-399)Cca>Tca	p.P133S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTACTTTATCCAGCCATTAT	0.393																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(397-399)Cca>Tca		olfactory receptor, family 5, subfamily H, member 14							84.0	100.0	94.0					3																	97868626		2183	4286	6469	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868626C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.397C>T	3.37:g.97868626C>T	ENSP00000401706:p.Pro133Ser						p.P133S	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	457	+			133					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.397C>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.669905	0.00758	.	.	ENSG00000236032	ENST00000437310	T	0.02280	4.36	2.49	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000288	T	0.02929	0.0087	N	0.16790	0.44	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50524	-0.8818	10	0.13470	T	0.59	.	2.6309	0.04943	0.2875:0.5419:0.0:0.1706	.	133	A6NHG9	O5H14_HUMAN	S	133	ENSP00000401706:P133S	ENSP00000401706:P133S	P	+	1	0	OR5H14	99351316	0.000000	0.05858	0.320000	0.25306	0.029000	0.11900	-2.006000	0.01459	1.380000	0.46344	0.195000	0.17529	CCA		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			18	289	0	0	0	1	0	18	289				
EIF3L	51386	broad.mit.edu	37	22	38270416	38270416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:38270416C>T	ENST00000412331.2	+	9	1373	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EIF3L_ENST00000406934.1_Missense_Mutation_p.S166F|EIF3L_ENST00000381683.6_Missense_Mutation_p.S216F	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCGGCACTCCCTCTACAAA	0.552																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(790-792)tCc>tTc		eukaryotic translation initiation factor 3, subunit L							217.0	171.0	187.0					22																	38270416		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38270416C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.791C>T	22.37:g.38270416C>T	ENSP00000416892:p.Ser264Phe					EIF3L_ENST00000406934.1_Missense_Mutation_p.S166F|EIF3L_ENST00000381683.6_Missense_Mutation_p.S216F	p.S264F	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			9	1373	+			264						Missense_Mutation	SNP	ENST00000412331.2	37	c.791C>T	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020931	0.93462	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.47177	0.85;0.85;0.85	5.66	5.66	0.87406	.	0.051016	0.85682	D	0.000000	T	0.69646	0.3134	M	0.79475	2.455	0.80722	D	1	P;P;P;D	0.58620	0.539;0.748;0.952;0.983	P;P;P;P	0.62435	0.486;0.587;0.839;0.902	T	0.72204	-0.4361	10	0.72032	D	0.01	-25.6223	19.8362	0.96658	0.0:1.0:0.0:0.0	.	216;166;264;307	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	F	264;307;216;231;166	ENSP00000416892:S264F;ENSP00000371099:S216F;ENSP00000384634:S166F	ENSP00000262832:S231F	S	+	2	0	EIF3L	36600362	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.783000	0.85696	2.703000	0.92315	0.638000	0.83543	TCC		0.552	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		12	175	0	0	0	1	0	12	175				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			101927648							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			4	14	0	0	0	1	0	4	14				
UNC5C	8633	broad.mit.edu	37	4	96124062	96124062	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:96124062C>T	ENST00000453304.1	-	12	2304	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	652					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCTCTGCATCCAGCTGAATGT	0.602																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1954-1956)ctG>ctA		unc-5 homolog C (C. elegans)							110.0	106.0	107.0					4																	96124062		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96124062C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1956G>A	4.37:g.96124062C>T							p.L652L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	12	2304	-		Hepatocellular(203;0.114)	652					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1956G>A	CCDS3643.1																																																																																				0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	99	0	0	0	1	0	13	99				
TRPC3	7222	broad.mit.edu	37	4	122828544	122828544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:122828544A>T	ENST00000379645.3	-	7	2044	c.1971T>A	c.(1969-1971)ttT>ttA	p.F657L	TRPC3_ENST00000264811.5_Missense_Mutation_p.F584L|TRPC3_ENST00000513531.1_Missense_Mutation_p.F529L	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	572					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACACCATAATAAAGAGGACCA	0.408																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1750-1752)ttT>ttA		transient receptor potential cation channel, subfamily C, member 3							154.0	157.0	156.0					4																	122828544		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122828544A>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1971T>A	4.37:g.122828544A>T	ENSP00000368966:p.Phe657Leu					TRPC3_ENST00000379645.3_Missense_Mutation_p.F657L|TRPC3_ENST00000513531.1_Missense_Mutation_p.F529L	p.F584L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			6	2170	-			572					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1752T>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325659	0.81580	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98090	-4.71;-4.71;-4.71	5.5	0.551	0.17225	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.64170	1.965	0.44424	D	0.997343	D;D;D	0.76494	0.999;0.999;0.986	D;D;D	0.77004	0.989;0.985;0.989	D	0.95544	0.8615	10	0.36615	T	0.2	-13.7052	9.7207	0.40302	0.6983:0.0:0.3017:0.0	.	572;529;657	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	L	584;657;529	ENSP00000264811:F584L;ENSP00000368966:F657L;ENSP00000426899:F529L	ENSP00000264811:F584L	F	-	3	2	TRPC3	123047994	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.327000	0.33746	0.185000	0.20105	0.533000	0.62120	TTT		0.408	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		23	236	0	0	0	1	0	23	236				
CLCN1	1180	broad.mit.edu	37	7	143017801	143017801	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:143017801G>A	ENST00000343257.2	+	3	433	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	116					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAAATTAGGGGAAGACGGGAT	0.468																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(346-348)Gaa>Aaa		chloride channel, voltage-sensitive 1							178.0	145.0	156.0					7																	143017801		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143017801G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.346G>A	7.37:g.143017801G>A	ENSP00000339867:p.Glu116Lys						p.E116K	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			3	433	+	Melanoma(164;0.205)		116					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.346G>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	34	5.330147	0.95733	.	.	ENSG00000188037	ENST00000343257	D	0.92446	-3.04	4.99	4.99	0.66335	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	M	0.76170	2.325	0.52099	D	0.999941	D	0.58970	0.984	P	0.54815	0.761	D	0.94351	0.7579	10	0.52906	T	0.07	.	15.2646	0.73651	0.0:0.0:1.0:0.0	.	116	P35523	CLCN1_HUMAN	K	116	ENSP00000339867:E116K	ENSP00000339867:E116K	E	+	1	0	CLCN1	142727923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.416000	0.97383	2.333000	0.79357	0.650000	0.86243	GAA		0.468	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		6	121	0	0	0	1	0	6	121				
ADAMTS3	9508	broad.mit.edu	37	4	73414295	73414295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:73414295C>T	ENST00000286657.4	-	3	440	c.404G>A	c.(403-405)aGa>aAa	p.R135K	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCGGATTCTATACGTAGC	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(403-405)aGa>aAa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							224.0	221.0	222.0					4																	73414295		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414295C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.404G>A	4.37:g.73414295C>T	ENSP00000286657:p.Arg135Lys					ADAMTS3_ENST00000505193.1_5'UTR	p.R135K	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	440	-			135					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.404G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498028	0.26861	.	.	ENSG00000156140	ENST00000286657	T	0.05717	3.4	5.76	3.98	0.46160	Peptidase M12B, propeptide (1);	0.071101	0.52532	D	0.000069	T	0.04952	0.0133	L	0.38953	1.18	0.27953	N	0.937056	B	0.06786	0.001	B	0.13407	0.009	T	0.41431	-0.9509	10	0.07030	T	0.85	.	9.3469	0.38113	0.0:0.6506:0.2776:0.0718	.	135	O15072	ATS3_HUMAN	K	135	ENSP00000286657:R135K	ENSP00000286657:R135K	R	-	2	0	ADAMTS3	73633159	0.993000	0.37304	0.638000	0.29380	0.215000	0.24574	2.021000	0.41020	0.832000	0.34804	0.655000	0.94253	AGA		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			18	195	0	0	0	1	0	18	195				
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186338532G>A	ENST00000273784.5	+	7	996	c.920G>A	c.(919-921)gGa>gAa	p.G307E	AHSG_ENST00000411641.2_Missense_Mutation_p.G306E	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(916-918)gGa>gAa		alpha-2-HS-glycoprotein							92.0	97.0	95.0					3																	186338532		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338532G>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.920G>A	3.37:g.186338532G>A	ENSP00000273784:p.Gly307Glu					AHSG_ENST00000273784.5_Missense_Mutation_p.G307E	p.G306E			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1136	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		306					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.917G>A		.	.	.	.	.	.	.	.	.	.	g	3.744	-0.052925	0.07362	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.06528	3.3;3.29	5.35	-10.7	0.00240	.	1.207210	0.05661	N	0.586803	T	0.02494	0.0076	N	0.17082	0.46	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.12156	0.007;0.001;0.003	T	0.38045	-0.9679	10	0.10902	T	0.67	1.7329	3.3727	0.07227	0.1212:0.358:0.2469:0.2738	.	372;306;307	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	E	306;372;307	ENSP00000393887:G306E;ENSP00000273784:G307E	ENSP00000273784:G307E	G	+	2	0	AHSG	187821226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.748000	0.00055	-2.371000	0.00602	-3.043000	0.00070	GGA		0.632	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		19	238	0	0	0	1	0	19	238				
BIRC3	330	broad.mit.edu	37	11	102195383	102195383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:102195383G>A	ENST00000263464.3	+	2	2893	c.143G>A	c.(142-144)aGg>aAg	p.R48K	BIRC3_ENST00000532808.1_Missense_Mutation_p.R48K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTCTCAGAAAGGAGTCTTGCT	0.453			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(142-144)aGg>aAg		baculoviral IAP repeat containing 3							162.0	152.0	155.0					11																	102195383		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195383G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.143G>A	11.37:g.102195383G>A	ENSP00000263464:p.Arg48Lys					BIRC3_ENST00000532808.1_Missense_Mutation_p.R48K	p.R48K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2893	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	48					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.143G>A	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956292	0.92726	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.71222	-0.55;-0.55	6.02	6.02	0.97574	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79490	-0.1782	10	0.48119	T	0.1	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	48	Q13489	BIRC3_HUMAN	K	48	ENSP00000263464:R48K;ENSP00000432907:R48K	ENSP00000263464:R48K	R	+	2	0	BIRC3	101700593	1.000000	0.71417	0.997000	0.53966	0.626000	0.37791	9.827000	0.99397	2.865000	0.98341	0.655000	0.94253	AGG		0.453	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		6	147	0	0	0	1	0	6	147				
OR14J1	442191	broad.mit.edu	37	6	29275338	29275338	+	Missense_Mutation	SNP	G	G	A	rs147619517		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:29275338G>A	ENST00000377160.2	+	1	936	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TATAGCTTACGGAATGATTCC	0.428																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(871-873)cGg>cAg		olfactory receptor, family 14, subfamily J, member 1		G	GLN/ARG	1,3021		0,1,1510	111.0	114.0	113.0		872	3.1	0.0	6	dbSNP_134	113	0,5416		0,0,2708	no	missense	OR14J1	NM_030946.1	43	0,1,4218	AA,AG,GG		0.0,0.0331,0.0119	probably-damaging	291/322	29275338	1,8437	1511	2708	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275338G>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.872G>A	6.37:g.29275338G>A	ENSP00000366365:p.Arg291Gln						p.R291Q	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	936	+			291					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.872G>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642718	0.67244	3.31E-4	0.0	ENSG00000204695	ENST00000377160	T	0.41065	1.01	4.86	3.08	0.35506	.	0.000000	0.38959	N	0.001520	T	0.45915	0.1366	M	0.64170	1.965	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38564	-0.9655	10	0.87932	D	0	.	11.2731	0.49150	0.1518:0.0:0.8482:0.0	.	291	Q9UGF5	O14J1_HUMAN	Q	291	ENSP00000366365:R291Q	ENSP00000366365:R291Q	R	+	2	0	OR14J1	29383317	0.759000	0.28416	0.005000	0.12908	0.079000	0.17450	2.381000	0.44336	0.761000	0.33130	-0.145000	0.13849	CGG		0.428	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			7	154	0	0	0	1	0	7	154				
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:147796051C>T	ENST00000325106.4	-	7	842	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TTC29_ENST00000513335.1_Missense_Mutation_p.E232K|TTC29_ENST00000398886.4_Missense_Mutation_p.E232K	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206								p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448																																						ENST00000513335.1																			2	Substitution - Missense(2)	p.E206K(2)	lung(2)	breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(694-696)Gaa>Aaa		tetratricopeptide repeat domain 29							44.0	42.0	43.0					4																	147796051		1873	4117	5990	SO:0001583	missense	83894						binding	g.chr4:147796051C>T	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.616G>A	4.37:g.147796051C>T	ENSP00000316740:p.Glu206Lys					TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K	p.E232K			Q8NA56	TTC29_HUMAN			8	893	-	all_hematologic(180;0.151)		206					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.694G>A	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925749	0.92319	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.31769	1.48;1.48;1.51;1.51	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.68952	2.095	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.54589	-0.8271	10	0.56958	D	0.05	-28.8814	20.2985	0.98592	0.0:1.0:0.0:0.0	.	206;232;206	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	K	232;232;206;206;206	ENSP00000423505:E232K;ENSP00000381861:E232K;ENSP00000316740:E206K;ENSP00000425778:E206K	ENSP00000316740:E206K	E	-	1	0	TTC29	148015501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.652000	0.67959	2.793000	0.96121	0.655000	0.94253	GAA		0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		3	27	0	0	0	1	0	3	27				
TTK	7272	broad.mit.edu	37	6	80744798	80744798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:80744798G>A	ENST00000369798.2	+	15	1822	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TTK_ENST00000509894.1_Missense_Mutation_p.E570K|TTK_ENST00000230510.3_Missense_Mutation_p.E570K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E555K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTACCGGAACGAAATAGCTTA	0.284																																						ENST00000509894.1																			1	Substitution - Missense(1)	p.E555K(1)	large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1708-1710)Gaa>Aaa		TTK protein kinase							76.0	82.0	80.0					6																	80744798		2200	4288	6488	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744798G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1711G>A	6.37:g.80744798G>A	ENSP00000358813:p.Glu571Lys					TTK_ENST00000230510.3_Missense_Mutation_p.E570K|TTK_ENST00000369798.2_Missense_Mutation_p.E571K	p.E570K			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	2537	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	571			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1708G>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241982	0.95272	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.84873	-1.91;-1.91;-1.91	5.67	5.67	0.87782	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	D	0.90878	0.7134	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91278	0.5049	10	0.87932	D	0	.	18.7461	0.91794	0.0:0.0:1.0:0.0	.	571;570	P33981;A8K8U5	TTK_HUMAN;.	K	570;570;571	ENSP00000422936:E570K;ENSP00000230510:E570K;ENSP00000358813:E571K	ENSP00000230510:E570K	E	+	1	0	TTK	80801517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.677000	0.91161	0.557000	0.71058	GAA		0.284	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			9	150	0	0	0	1	0	9	150				
PLEK	5341	broad.mit.edu	37	2	68607875	68607875	+	Silent	SNP	G	G	A	rs148878592		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:68607875G>A	ENST00000234313.7	+	3	398	c.219G>A	c.(217-219)acG>acA	p.T73T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	73	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATCACTACGACCAAACAGC	0.488																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(217-219)acG>acA		pleckstrin		G		1,4405	2.1+/-5.4	0,1,2202	127.0	127.0	127.0		219	-7.7	0.3	2	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	PLEK	NM_002664.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		73/351	68607875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607875G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.219G>A	2.37:g.68607875G>A							p.T73T	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	398	+		Ovarian(717;0.0129)	73			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.219G>A	CCDS1887.1																																																																																				0.488	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		11	163	0	0	0	1	0	11	163				
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		19515	0.0		0.002	False		,,,				2504	0.0					ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(934-936)Gat>Aat		complement component 9		C	ASN/ASP	0,4406		0,0,2203	131.0	124.0	126.0		934	3.7	0.0	5	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C9	NM_001737.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	312/560	39311416	1,13005	2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311416C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.934G>A	5.37:g.39311416C>T	ENSP00000263408:p.Asp312Asn						p.D312N	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1029	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	312			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.934G>A	CCDS3929.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.71	2.018462	0.35606	0.0	1.16E-4	ENSG00000113600	ENST00000263408	D	0.84223	-1.82	5.48	3.71	0.42584	Membrane attack complex component/perforin (MACPF) domain (3);	0.578927	0.18814	N	0.130429	D	0.89708	0.6793	M	0.69358	2.11	0.09310	N	1	D	0.76494	0.999	D	0.63597	0.916	T	0.81870	-0.0734	10	0.56958	D	0.05	-8.2868	11.6578	0.51328	0.0:0.854:0.0:0.146	.	312	P02748	CO9_HUMAN	N	312	ENSP00000263408:D312N	ENSP00000263408:D312N	D	-	1	0	C9	39347173	0.000000	0.05858	0.004000	0.12327	0.120000	0.20174	0.702000	0.25631	0.689000	0.31550	0.563000	0.77884	GAT		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			8	159	0	0	0	1	0	8	159				
PLXDC1	57125	broad.mit.edu	37	17	37264407	37264407	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37264407G>A	ENST00000315392.4	-	5	772	c.561C>T	c.(559-561)tcC>tcT	p.S187S	PLXDC1_ENST00000539608.1_Silent_p.S114S|PLXDC1_ENST00000444911.2_Silent_p.S147S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.S187S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	187					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGAGTTGTCGGAGTAGCCAG	0.522																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(559-561)tcC>tcT		plexin domain containing 1							141.0	140.0	140.0					17																	37264407		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264407G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.561C>T	17.37:g.37264407G>A						PLXDC1_ENST00000394316.2_Silent_p.S187S|PLXDC1_ENST00000444911.2_Silent_p.S147S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Silent_p.S114S	p.S187S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			5	772	-			187					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.561C>T	CCDS11333.1																																																																																				0.522	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		12	180	0	0	0	1	0	12	180				
ERICH3	127254	broad.mit.edu	37	1	75038709	75038709	+	Silent	SNP	C	C	T	rs545646275		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:75038709C>T	ENST00000326665.5	-	14	2903	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		895	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACCCTGTTCCCCTTCAGAAG	0.512																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2683-2685)ggG>ggA		chromosome 1 open reading frame 173							251.0	247.0	249.0					1																	75038709		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038709C>T																												ENST00000326665.5:c.2685G>A	1.37:g.75038709C>T						C1orf173_ENST00000433746.2_5'UTR	p.G895G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2903	-			895			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2685G>A	CCDS30755.1																																																																																				0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			15	304	0	0	0	1	0	15	304				
BCORL1	63035	broad.mit.edu	37	X	129156917	129156917	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:129156917C>T	ENST00000218147.7	+	6	3850	c.3653C>T	c.(3652-3654)cCt>cTt	p.P1218L	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1218L|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1218L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1218L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1218					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACTTTATTCCTGTGGTTCTG	0.473																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3652-3654)cCt>cTt		BCL6 corepressor-like 1							188.0	160.0	170.0					X																	129156917		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129156917C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3653C>T	X.37:g.129156917C>T	ENSP00000218147:p.Pro1218Leu					BCORL1_ENST00000303743.5_Missense_Mutation_p.P1218L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1218L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P1218L	p.P1218L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			5	3697	+			1218					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3653C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617602	0.87359	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.56103	0.48;0.87;0.6;0.48;0.97	5.88	5.88	0.94601	.	0.000000	0.33253	N	0.005115	T	0.63815	0.2543	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67078	-0.5761	10	0.72032	D	0.01	-12.244	19.1445	0.93459	0.0:1.0:0.0:0.0	.	1218;1218	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	1218;1218;1218;1218;818	ENSP00000218147:P1218L;ENSP00000307541:P1218L;ENSP00000352253:P1218L;ENSP00000437775:P1218L;ENSP00000399483:P818L	ENSP00000218147:P1218L	P	+	2	0	BCORL1	128984598	0.995000	0.38212	0.930000	0.37139	0.862000	0.49288	4.987000	0.63857	2.471000	0.83476	0.600000	0.82982	CCT		0.473	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		7	76	0	0	0	1	0	7	76				
TRIM11	81559	broad.mit.edu	37	1	228584723	228584723	+	Missense_Mutation	SNP	G	G	A	rs375268091		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:228584723G>A	ENST00000284551.6	-	5	1062	c.784C>T	c.(784-786)Cca>Tca	p.P262S	TRIM11_ENST00000493030.2_Missense_Mutation_p.P137S|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Missense_Mutation_p.P262S	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	262					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				ACAACTTCTGGGGGCTGCAGC	0.652																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(409-411)Cca>Tca		tripartite motif containing 11							76.0	78.0	77.0					1																	228584723		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228584723G>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.784C>T	1.37:g.228584723G>A	ENSP00000284551:p.Pro262Ser					TRIM11_ENST00000284551.6_Missense_Mutation_p.P262S|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Missense_Mutation_p.P262S	p.P137S			Q96F44	TRI11_HUMAN			4	4118	-		Prostate(94;0.0724)	262					A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.409C>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874225	0.72180	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.07216	3.21;3.21	4.97	4.97	0.65823	.	0.000000	0.40064	N	0.001187	T	0.19248	0.0462	L	0.49699	1.58	0.35090	D	0.764232	P;D;P	0.54207	0.867;0.965;0.949	P;P;P	0.58331	0.776;0.837;0.642	T	0.05146	-1.0903	10	0.51188	T	0.08	.	14.103	0.65070	0.0:0.0:1.0:0.0	.	261;262;262	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	S	262	ENSP00000284551:P262S;ENSP00000355660:P262S	ENSP00000284551:P262S	P	-	1	0	TRIM11	226651346	0.995000	0.38212	0.243000	0.24186	0.764000	0.43329	4.742000	0.62103	2.482000	0.83794	0.313000	0.20887	CCA		0.652	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		8	75	0	0	0	1	0	8	75				
TADA2A	6871	broad.mit.edu	37	17	35818660	35818660	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:35818660C>T	ENST00000394395.2	+	9	812	c.639C>T	c.(637-639)tcC>tcT	p.S213S	TADA2A_ENST00000586023.1_Silent_p.S213S|TADA2A_ENST00000225396.6_Silent_p.S213S|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Silent_p.S213S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	213					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TCTATCATTCCAGGTTAAAGG	0.303																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(637-639)tcC>tcT		transcriptional adaptor 2A							66.0	68.0	67.0					17																	35818660		2203	4300	6503	SO:0001819	synonymous_variant	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35818660C>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.639C>T	17.37:g.35818660C>T						TADA2A_ENST00000417170.1_Silent_p.S213S|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.S213S|TADA2A_ENST00000225396.6_Silent_p.S213S	p.S213S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			9	812	+			213					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Silent	SNP	ENST00000394395.2	37	c.639C>T	CCDS11319.1																																																																																				0.303	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		4	67	0	0	0	1	0	4	67				
SEC24D	9871	broad.mit.edu	37	4	119665181	119665181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:119665181G>A	ENST00000280551.6	-	15	2195	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	SEC24D_ENST00000379735.5_Missense_Mutation_p.L654F|SEC24D_ENST00000419654.2_Missense_Mutation_p.L209F|SEC24D_ENST00000511481.1_Missense_Mutation_p.L284F|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.L209F			O94855	SC24D_HUMAN	SEC24 family member D	653					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCTCCAGTGAGCTGAGGAACC	0.478																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1960-1962)Ctc>Ttc		SEC24 family member D							72.0	69.0	70.0					4																	119665181		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119665181G>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1957C>T	4.37:g.119665181G>A	ENSP00000280551:p.Leu653Phe					SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.L653F|SEC24D_ENST00000429811.2_Missense_Mutation_p.L209F|SEC24D_ENST00000511481.1_Missense_Mutation_p.L284F|SEC24D_ENST00000419654.2_Missense_Mutation_p.L209F	p.L654F	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			15	2231	-			653					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.1960C>T	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516193	0.85495	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.9	5.9	0.94986	Sec23/Sec24, trunk domain (1);	0.235052	0.47093	D	0.000246	T	0.67306	0.2879	L	0.39397	1.21	0.38711	D	0.953211	B;P	0.43519	0.401;0.809	B;B	0.39617	0.107;0.305	T	0.71090	-0.4693	10	0.42905	T	0.14	-29.3983	15.3555	0.74423	0.0682:0.0:0.9318:0.0	.	654;653	O94855-2;O94855	.;SC24D_HUMAN	F	653;654;209;284;209	ENSP00000280551:L653F;ENSP00000369059:L654F;ENSP00000409775:L209F;ENSP00000425491:L284F;ENSP00000388324:L209F	ENSP00000280551:L653F	L	-	1	0	SEC24D	119884629	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.866000	0.56040	2.786000	0.95864	0.561000	0.74099	CTC		0.478	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			5	57	0	0	0	1	0	5	57				
ITGAX	3687	broad.mit.edu	37	16	31374287	31374287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:31374287C>T	ENST00000268296.4	+	13	1512	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S464F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	464					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCCTCTGCTCCGTGGACGTA	0.667																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1390-1392)tCc>tTc		integrin, alpha X (complement component 3 receptor 4 subunit)							67.0	71.0	69.0					16																	31374287		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374287C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1391C>T	16.37:g.31374287C>T	ENSP00000268296:p.Ser464Phe					ITGAX_ENST00000562522.1_Missense_Mutation_p.S464F	p.S464F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			13	1512	+			464					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1391C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948694	0.34377	.	.	ENSG00000140678	ENST00000268296	T	0.11821	2.74	3.58	3.58	0.41010	.	.	.	.	.	T	0.43919	0.1269	M	0.93016	3.37	0.09310	N	0.999998	D	0.71674	0.998	D	0.65323	0.934	T	0.38478	-0.9659	9	0.87932	D	0	.	12.5375	0.56150	0.0:1.0:0.0:0.0	.	464	P20702	ITAX_HUMAN	F	464	ENSP00000268296:S464F	ENSP00000268296:S464F	S	+	2	0	ITGAX	31281788	0.144000	0.22641	0.957000	0.39632	0.080000	0.17528	4.372000	0.59530	1.729000	0.51567	0.298000	0.19748	TCC		0.667	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		12	157	0	0	0	1	0	12	157				
SNRPN	6638	broad.mit.edu	37	15	25221514	25221514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:25221514G>A	ENST00000400100.1	+	9	1108	c.218G>A	c.(217-219)cGt>cAt	p.R73H	SNRPN_ENST00000346403.6_Missense_Mutation_p.R73H|SNRPN_ENST00000444203.2_Missense_Mutation_p.R77H|SNRPN_ENST00000577565.1_Missense_Mutation_p.R73H|SNRPN_ENST00000554227.2_Missense_Mutation_p.R77H|SNRPN_ENST00000400098.1_Missense_Mutation_p.R73H|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R73H|SNRPN_ENST00000390687.4_Missense_Mutation_p.R73H|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	73					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTGTTGCTGCGTGGGGAGAAC	0.448									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(229-231)cGt>cAt		small nuclear ribonucleoprotein polypeptide N							91.0	97.0	95.0					15																	25221514		1931	4144	6075	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221514G>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.218G>A	15.37:g.25221514G>A	ENSP00000382972:p.Arg73His					SNRPN_ENST00000346403.6_Missense_Mutation_p.R73H|SNRPN_ENST00000400100.1_Missense_Mutation_p.R73H|SNRPN_ENST00000400098.1_Missense_Mutation_p.R73H|SNRPN_ENST00000577565.1_Missense_Mutation_p.R73H|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.R77H|SNRPN_ENST00000390687.4_Missense_Mutation_p.R73H|SNRPN_ENST00000400097.1_Missense_Mutation_p.R73H	p.R77H			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	4	1269	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	73					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.230G>A	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348185	0.61183	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.21	2.33	0.28932	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	H	0.99675	4.695	0.80722	D	1	P;P	0.42649	0.632;0.786	B;B	0.38842	0.222;0.283	T	0.81899	-0.0721	10	0.66056	D	0.02	-4.632	8.5256	0.33302	0.1943:0.0:0.8057:0.0	.	77;73	B3KVR1;P63162	.;RSMN_HUMAN	H	73;73;73;77;73;77	ENSP00000382972:R73H;ENSP00000382970:R73H;ENSP00000382969:R73H;ENSP00000452342:R77H;ENSP00000375105:R73H;ENSP00000408767:R77H	ENSP00000375105:R73H	R	+	2	0	SNRPN	22772607	1.000000	0.71417	0.537000	0.28052	0.994000	0.84299	8.786000	0.91826	0.730000	0.32425	0.591000	0.81541	CGT		0.448	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		6	59	0	0	0	1	0	6	59				
TIGIT	201633	broad.mit.edu	37	3	114014611	114014611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:114014611C>T	ENST00000486257.1	+	3	538	c.281C>T	c.(280-282)aCc>aTc	p.T94I	TIGIT_ENST00000481065.1_Missense_Mutation_p.T161I|TIGIT_ENST00000383671.3_Missense_Mutation_p.T94I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CTGGGCCTCACCCTCCAGTCG	0.577																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(481-483)aCc>aTc		T cell immunoreceptor with Ig and ITIM domains							71.0	67.0	68.0					3																	114014611		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014611C>T	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.281C>T	3.37:g.114014611C>T	ENSP00000419085:p.Thr94Ile					TIGIT_ENST00000486257.1_Missense_Mutation_p.T94I|TIGIT_ENST00000383671.3_Missense_Mutation_p.T94I	p.T161I			Q495A1	TIGIT_HUMAN			3	3097	+			94					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.482C>T	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	7.268	0.606626	0.14002	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	4.71	3.84	0.44239	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111315	0.40818	N	0.001010	T	0.60314	0.2259	L	0.43152	1.355	0.33905	D	0.639019	P	0.36392	0.551	B	0.41917	0.37	T	0.70040	-0.4981	10	0.45353	T	0.12	-9.097	8.9703	0.35901	0.0:0.8991:0.0:0.1009	.	94	Q495A1	TIGIT_HUMAN	I	73;161;94;94;73	ENSP00000418917:T73I;ENSP00000420552:T161I;ENSP00000419085:T94I;ENSP00000373167:T94I;ENSP00000419706:T73I	ENSP00000373167:T94I	T	+	2	0	TIGIT	115497301	0.062000	0.20869	0.941000	0.38009	0.240000	0.25518	0.241000	0.18065	1.370000	0.46153	0.561000	0.74099	ACC		0.577	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		5	101	0	0	0	1	0	5	101				
STK10	6793	broad.mit.edu	37	5	171544572	171544572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:171544572G>A	ENST00000176763.5	-	4	776	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGAAGTTGAGGGCTTCTAGC	0.567																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(433-435)Ctc>Ttc		serine/threonine kinase 10							119.0	103.0	109.0					5																	171544572		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171544572G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.433C>T	5.37:g.171544572G>A	ENSP00000176763:p.Leu145Phe						p.L145F	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	776	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	145			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.433C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223929	0.79576	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.74632	-0.86	5.59	5.59	0.84812	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	0.64402	D	0.000004	D	0.85496	0.5710	M	0.87038	2.855	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	D	0.87349	0.2336	10	0.87932	D	0	.	10.5104	0.44857	0.0878:0.0:0.9122:0.0	.	145	O94804	STK10_HUMAN	F	145	ENSP00000176763:L145F	ENSP00000176763:L145F	L	-	1	0	STK10	171477177	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.939000	0.48995	2.619000	0.88677	0.563000	0.77884	CTC		0.567	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		7	98	0	0	0	1	0	7	98				
VCP	7415	broad.mit.edu	37	9	35061622	35061622	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:35061622C>T	ENST00000358901.6	-	10	2041	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	382					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGTATGGATCTGAAGAATCT	0.483																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1144-1146)caG>caA		valosin containing protein							305.0	264.0	278.0					9																	35061622		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061622C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1146G>A	9.37:g.35061622C>T							p.Q382Q	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		10	2041	-			382					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1146G>A	CCDS6573.1																																																																																				0.483	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		28	168	0	0	0	1	0	28	168				
MRPL22	29093	broad.mit.edu	37	5	154320689	154320689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154320689G>A	ENST00000523037.1	+	1	60	c.19G>A	c.(19-21)Gga>Aga	p.G7R	MRPL22_ENST00000439747.3_Missense_Mutation_p.G7R|MRPL22_ENST00000265229.8_5'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.G7R|GEMIN5_ENST00000285873.7_5'Flank	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	7					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCAGTACTGGGACAGTTGGG	0.542																																						ENST00000523037.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(19-21)Gga>Aga		mitochondrial ribosomal protein L22							158.0	158.0	158.0					5																	154320689		2203	4300	6503	SO:0001583	missense	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154320689G>A	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.19G>A	5.37:g.154320689G>A	ENSP00000431040:p.Gly7Arg					MRPL22_ENST00000439747.3_Missense_Mutation_p.G7R|MRPL22_ENST00000522038.1_Missense_Mutation_p.G7R|MRPL22_ENST00000265229.8_5'UTR	p.G7R	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	60	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	7					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	c.19G>A	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	G	8.391	0.839796	0.16891	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.55234	1.09;0.53;1.09	4.79	-3.86	0.04230	.	5.175880	0.00166	N	0.000000	T	0.24699	0.0599	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	10	0.87932	D	0	-11.5839	7.3154	0.26498	0.2657:0.5001:0.2342:0.0	.	7	Q9NWU5	RM22_HUMAN	R	7	ENSP00000431040:G7R;ENSP00000411177:G7R;ENSP00000429039:G7R	ENSP00000411177:G7R	G	+	1	0	MRPL22	154300882	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.565000	0.05929	-0.627000	0.05589	-0.145000	0.13849	GGA		0.542	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2			8	177	0	0	0	1	0	8	177				
CENPE	1062	broad.mit.edu	37	4	104030071	104030071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:104030071G>A	ENST00000265148.3	-	48	7989	c.7900C>T	c.(7900-7902)Cct>Tct	p.P2634S	CENPE_ENST00000380026.3_Missense_Mutation_p.P2513S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2634	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGGCACAGGATCTTGTAAA	0.378																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7900-7902)Cct>Tct		centromere protein E, 312kDa							192.0	188.0	189.0					4																	104030071		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030071G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7900C>T	4.37:g.104030071G>A	ENSP00000265148:p.Pro2634Ser					CENPE_ENST00000380026.3_Missense_Mutation_p.P2513S	p.P2634S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7989	-			2634			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7900C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212085	0.22289	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70164	-0.46;-0.43	4.95	0.425	0.16473	.	.	.	.	.	T	0.52208	0.1720	L	0.51422	1.61	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.21151	0.033;0.015	T	0.34204	-0.9838	9	0.16896	T	0.51	.	3.9656	0.09429	0.0923:0.2687:0.4849:0.1541	.	2513;2634	Q02224-3;Q02224	.;CENPE_HUMAN	S	2634;2513	ENSP00000265148:P2634S;ENSP00000369365:P2513S	ENSP00000265148:P2634S	P	-	1	0	CENPE	104249520	0.031000	0.19500	0.066000	0.19879	0.588000	0.36517	0.925000	0.28791	0.113000	0.18004	0.655000	0.94253	CCT		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	173	0	0	0	1	0	22	173				
GPRASP2	114928	broad.mit.edu	37	X	101970658	101970658	+	Silent	SNP	G	G	A	rs146614457	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:101970658G>A	ENST00000535209.1	+	4	1692	c.861G>A	c.(859-861)gaG>gaA	p.E287E	GPRASP2_ENST00000332262.5_Silent_p.E287E|GPRASP2_ENST00000543253.1_Silent_p.E287E			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	287						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGAGGATGAGGCCAGCAACC	0.517																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(859-861)gaG>gaA		G protein-coupled receptor associated sorting protein 2		G	,,,,,	0,3835		0,0,0,1632,571	114.0	112.0	113.0		861,861,861,861,861,861	4.1	0.9	X	dbSNP_134	113	9,6719		0,4,5,2424,1867	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	,,,,,	0,4,5,4056,2438	AA,AG,A,GG,G		0.1338,0.0,0.0852	,,,,,	287/839,287/839,287/839,287/839,287/839,287/839	101970658	9,10554	2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101970658G>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.861G>A	X.37:g.101970658G>A						GPRASP2_ENST00000332262.5_Silent_p.E287E|GPRASP2_ENST00000535209.1_Silent_p.E287E	p.E287E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1780	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.861G>A	CCDS14501.1																																																																																				0.517	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		14	134	0	0	0	1	0	14	134				
COL6A3	1293	broad.mit.edu	37	2	238303583	238303583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238303583C>T	ENST00000295550.4	-	3	808	c.356G>A	c.(355-357)gGa>gAa	p.G119E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G119E|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.G119E|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	119	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAATCCTTTTCCAGTCTGATT	0.448																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(355-357)gGa>gAa		collagen, type VI, alpha 3							87.0	92.0	90.0					2																	238303583		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303583C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.356G>A	2.37:g.238303583C>T	ENSP00000295550:p.Gly119Glu					COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.G119E|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.G119E|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron	p.G119E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	808	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	119			Nonhelical region.|VWFA 1.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.356G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267961	0.40095	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.81	4.81	0.61882	von Willebrand factor, type A (3);	0.000000	0.46145	U	0.000316	D	0.95211	0.8447	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97008	0.9734	10	0.72032	D	0.01	.	17.9023	0.88907	0.0:1.0:0.0:0.0	.	119;119	E9PCV6;P12111	.;CO6A3_HUMAN	E	119	ENSP00000295550:G119E;ENSP00000315609:G119E;ENSP00000295546:G119E;ENSP00000389539:G119E	ENSP00000295550:G119E	G	-	2	0	COL6A3	237968322	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	5.880000	0.69698	2.208000	0.71279	0.455000	0.32223	GGA		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	131	0	0	0	1	0	6	131				
PNP	4860	broad.mit.edu	37	14	20943406	20943406	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20943406C>G	ENST00000361505.5	+	5	793	c.647C>G	c.(646-648)gCt>gGt	p.A216G	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						GGAGCAGACGCTGTTGGTGAG	0.537																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.(646-648)gCt>gGt		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						62.0	62.0	62.0					14																	20943406		2203	4300	6503	SO:0001583	missense	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20943406C>G		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.647C>G	14.37:g.20943406C>G	ENSP00000354532:p.Ala216Gly					RP11-203M5.8_ENST00000554678.1_lincRNA	p.A216G	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			5	793	+			216						Missense_Mutation	SNP	ENST00000361505.5	37	c.647C>G	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257262	0.59321	.	.	ENSG00000198805	ENST00000361505;ENST00000554469	D	0.89050	-2.46	5.91	5.01	0.66863	Nucleoside phosphorylase domain (1);	0.047900	0.85682	D	0.000000	D	0.94584	0.8255	M	0.93283	3.4	0.80722	D	1	P	0.49185	0.92	P	0.56163	0.793	D	0.95288	0.8392	10	0.87932	D	0	-15.0288	13.4297	0.61049	0.0:0.9241:0.0:0.0759	.	216	P00491	PNPH_HUMAN	G	216;148	ENSP00000354532:A216G	ENSP00000354532:A216G	A	+	2	0	PNP	20013246	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.473000	0.60196	2.793000	0.96121	0.655000	0.94253	GCT		0.537	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		6	41	0	0	0	1	0	6	41				
BEND2	139105	broad.mit.edu	37	X	18213472	18213472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:18213472C>T	ENST00000380033.4	-	7	1256	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCGTATTTCCCGATAAAGC	0.403																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1123-1125)gGa>gAa		BEN domain containing 2							179.0	151.0	160.0					X																	18213472		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18213472C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1124G>A	X.37:g.18213472C>T	ENSP00000369372:p.Gly375Glu					BEND2_ENST00000380030.3_Intron	p.G375E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			7	1256	-			375					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1124G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686042	0.29962	.	.	ENSG00000177324	ENST00000380033	T	0.26810	1.71	3.21	1.38	0.22167	.	.	.	.	.	T	0.30916	0.0780	L	0.52573	1.65	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.22591	-1.0212	9	0.02654	T	1	.	4.001	0.09580	0.0:0.6134:0.2412:0.1453	.	375	Q8NDZ0	BEND2_HUMAN	E	375	ENSP00000369372:G375E	ENSP00000369372:G375E	G	-	2	0	BEND2	18123393	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	-0.861000	0.04268	0.230000	0.21059	0.556000	0.70494	GGA		0.403	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		8	72	0	0	0	1	0	8	72				
SLC38A5	92745	broad.mit.edu	37	X	48320450	48320450	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:48320450G>A	ENST00000376876.3	-	10	1557	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SLC38A5_ENST00000317669.5_Silent_p.L238L|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Silent_p.L187L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	238					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTTGGCTGGGGAGTCCCACGA	0.542																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(712-714)ctC>ctT		solute carrier family 38, member 5							112.0	85.0	94.0					X																	48320450		2203	4300	6503	SO:0001819	synonymous_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48320450G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.714C>T	X.37:g.48320450G>A						SLC38A5_ENST00000317669.5_Silent_p.L238L|SLC38A5_ENST00000376875.1_Silent_p.L187L	p.L238L			Q8WUX1	S38A5_HUMAN			10	1557	-			238					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	c.714C>T	CCDS14293.1																																																																																				0.542	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		4	26	0	0	0	1	0	4	26				
EGFLAM	133584	broad.mit.edu	37	5	38350680	38350680	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:38350680G>A	ENST00000354891.3	+	4	715	c.369G>A	c.(367-369)ggG>ggA	p.G123G	EGFLAM_ENST00000322350.5_Silent_p.G123G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCAAAGGGCGGCTGAGCT	0.478																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(367-369)ggG>ggA		EGF-like, fibronectin type III and laminin G domains							106.0	97.0	100.0					5																	38350680		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38350680G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.369G>A	5.37:g.38350680G>A						EGFLAM_ENST00000354891.3_Silent_p.G123G	p.G123G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			4	715	+	all_lung(31;0.000385)		123			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.369G>A	CCDS56363.1																																																																																				0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	86	0	0	0	1	0	10	86				
THSD4	79875	broad.mit.edu	37	15	72020966	72020966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:72020966G>A	ENST00000355327.3	+	9	1570	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G479E|THSD4_ENST00000357769.4_Missense_Mutation_p.G119E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	479					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGGGCGGAGGGACCATGTTC	0.512																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1435-1437)gGg>gAg		thrombospondin, type I, domain containing 4							189.0	176.0	180.0					15																	72020966		1942	4135	6077	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020966G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1436G>A	15.37:g.72020966G>A	ENSP00000347484:p.Gly479Glu					THSD4_ENST00000357769.4_Missense_Mutation_p.G119E|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G479E	p.G479E			Q6ZMP0	THSD4_HUMAN			9	1570	+			479					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1436G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	30	5.053734	0.93793	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.63417	-0.04;-0.04;-0.04	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	0.659663	0.15082	N	0.281617	D	0.85225	0.5648	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88419	0.3027	10	0.87932	D	0	.	16.1685	0.81786	0.0:0.0:1.0:0.0	.	119;119;479;479	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	E	479;479;119	ENSP00000347484:G479E;ENSP00000261862:G479E;ENSP00000350413:G119E	ENSP00000261862:G479E	G	+	2	0	THSD4	69808020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.632000	0.98428	2.404000	0.81709	0.462000	0.41574	GGG		0.512	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		10	209	0	0	0	1	0	10	209				
SLC5A1	6523	broad.mit.edu	37	22	32477867	32477867	+	Silent	SNP	G	G	A	rs145808292		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:32477867G>A	ENST00000266088.4	+	6	742	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SLC5A1_ENST00000543737.1_Silent_p.S37S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	164					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ACATCTTCTCGGGGGCCATAT	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.0					ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(490-492)tcG>tcA		solute carrier family 5 (sodium/glucose cotransporter), member 1							155.0	147.0	150.0					22																	32477867		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32477867G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.492G>A	22.37:g.32477867G>A						SLC5A1_ENST00000543737.1_Silent_p.S37S	p.S164S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			6	742	+			164					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.492G>A	CCDS13902.1																																																																																				0.498	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		9	197	0	0	0	1	0	9	197				
DCHS2	54798	broad.mit.edu	37	4	155242276	155242276	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:155242276T>C	ENST00000357232.4	-	14	2909	c.2910A>G	c.(2908-2910)atA>atG	p.I970M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	970	Cadherin 8. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGATGACTTTATCAAGCTCA	0.348																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2908-2910)atA>atG		dachsous cadherin-related 2							66.0	68.0	67.0					4																	155242276		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155242276T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2910A>G	4.37:g.155242276T>C	ENSP00000349768:p.Ile970Met						p.I970M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	2909	-	all_hematologic(180;0.208)	Renal(120;0.0854)	970			Cadherin 8.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2910A>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240721	0.22711	.	.	ENSG00000197410	ENST00000357232	T	0.62639	0.01	5.59	-2.18	0.07037	Cadherin (4);Cadherin-like (1);	0.935726	0.08954	N	0.869735	T	0.56499	0.1989	M	0.75085	2.285	0.09310	N	0.999999	B	0.22146	0.065	B	0.16722	0.016	T	0.50423	-0.8830	10	0.49607	T	0.09	.	6.0342	0.19697	0.0:0.307:0.2316:0.4614	.	970	Q6V1P9	PCD23_HUMAN	M	970	ENSP00000349768:I970M	ENSP00000349768:I970M	I	-	3	3	DCHS2	155461726	0.131000	0.22433	0.033000	0.17914	0.967000	0.64934	0.506000	0.22658	-0.602000	0.05775	0.460000	0.39030	ATA		0.348	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	117	0	0	0	1	0	6	117				
OR2AG1	144125	broad.mit.edu	37	11	6806863	6806863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:6806863G>A	ENST00000307401.4	+	1	616	c.595G>A	c.(595-597)Gta>Ata	p.V199I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGCTCATGGTATATGTGAT	0.493																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(595-597)Gta>Ata		olfactory receptor, family 2, subfamily AG, member 1							220.0	185.0	197.0					11																	6806863		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806863G>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.595G>A	11.37:g.6806863G>A	ENSP00000307447:p.Val199Ile						p.V199I	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	616	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	199					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.595G>A	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160320	0.21454	.	.	ENSG00000170803	ENST00000307401	T	0.00123	8.7	4.23	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.00109	0.0003	L	0.28400	0.85	0.18873	N	0.999981	B	0.21753	0.06	B	0.30646	0.118	T	0.05649	-1.0872	10	0.23302	T	0.38	.	7.2886	0.26354	0.0:0.1882:0.6174:0.1944	.	199	Q9H205	O2AG1_HUMAN	I	199	ENSP00000307447:V199I	ENSP00000307447:V199I	V	+	1	0	OR2AG1	6763439	0.000000	0.05858	0.992000	0.48379	0.959000	0.62525	0.181000	0.16880	1.108000	0.41662	0.591000	0.81541	GTA		0.493	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		4	74	0	0	0	1	0	4	74				
RIMS1	22999	broad.mit.edu	37	6	72889506	72889506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:72889506C>T	ENST00000521978.1	+	5	700	c.700C>T	c.(700-702)Cct>Tct	p.P234S	RIMS1_ENST00000522291.1_Missense_Mutation_p.P234S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P234S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P234S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P234S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P234S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P234S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P234S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	234					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGATGCTGCTCCTCCCAGCGC	0.592																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(700-702)Cct>Tct		regulating synaptic membrane exocytosis 1							51.0	58.0	56.0					6																	72889506		2121	4244	6365	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889506C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.700C>T	6.37:g.72889506C>T	ENSP00000428417:p.Pro234Ser					RIMS1_ENST00000522291.1_Missense_Mutation_p.P234S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P234S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P234S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P234S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P234S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P234S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P234S	p.P234S			Q86UR5	RIMS1_HUMAN			5	700	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	234					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.700C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.397956	0.01175	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.13778	2.56;2.7;2.64;2.71;2.7;2.72;2.71;2.63	5.65	1.81	0.25067	.	0.278401	0.30538	N	0.009405	T	0.03178	0.0093	L	0.35723	1.085	0.48395	D	0.999648	B	0.17038	0.02	B	0.12837	0.008	T	0.32851	-0.9891	10	0.40728	T	0.16	-2.6283	3.6262	0.08114	0.2369:0.5173:0.1147:0.1311	.	234	Q86UR5	RIMS1_HUMAN	S	234	ENSP00000430101:P234S;ENSP00000275037:P234S;ENSP00000264839:P234S;ENSP00000429959:P234S;ENSP00000430408:P234S;ENSP00000430502:P234S;ENSP00000430932:P234S;ENSP00000428417:P234S	ENSP00000264839:P234S	P	+	1	0	RIMS1	72946227	0.003000	0.15002	0.004000	0.12327	0.036000	0.12997	0.028000	0.13644	0.044000	0.15775	0.655000	0.94253	CCT		0.592	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	103	0	0	0	1	0	6	103				
SPATA7	55812	broad.mit.edu	37	14	88899482	88899482	+	Silent	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:88899482A>G	ENST00000393545.4	+	10	1375	c.1086A>G	c.(1084-1086)gaA>gaG	p.E362E	SPATA7_ENST00000356583.5_Silent_p.E330E|SPATA7_ENST00000045347.7_Silent_p.E362E|SPATA7_ENST00000556553.1_Silent_p.E330E	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	362					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTTACAGTGAAGAAGAACTGT	0.269																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(988-990)gaA>gaG		spermatogenesis associated 7							81.0	82.0	81.0					14																	88899482		2197	4278	6475	SO:0001819	synonymous_variant	55812				response to stimulus|visual perception			g.chr14:88899482A>G	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1086A>G	14.37:g.88899482A>G						SPATA7_ENST00000356583.5_Silent_p.E330E|SPATA7_ENST00000393545.4_Silent_p.E362E|SPATA7_ENST00000045347.7_Silent_p.E362E	p.E330E			Q9P0W8	SPAT7_HUMAN			10	1549	+			362					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	c.990A>G	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	1.178	-0.638909	0.03557	.	.	ENSG00000042317	ENST00000556406	.	.	.	5.08	1.21	0.21127	.	.	.	.	.	T	0.41994	0.1183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22243	-1.0222	4	.	.	.	-1.4725	1.1045	0.01690	0.5184:0.1559:0.176:0.1497	.	.	.	.	R	20	.	.	K	+	2	0	SPATA7	87969235	1.000000	0.71417	0.999000	0.59377	0.307000	0.27823	0.817000	0.27281	0.016000	0.14998	-0.438000	0.05819	AAG		0.269	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			7	102	0	0	0	1	0	7	102				
CFH	3075	broad.mit.edu	37	1	196697552	196697552	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:196697552C>T	ENST00000367429.4	+	15	2553	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	771	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAGGAATTCGATCATAATT	0.299																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2311-2313)ttC>ttT		complement factor H							70.0	66.0	68.0					1																	196697552		2203	4299	6502	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196697552C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2313C>T	1.37:g.196697552C>T							p.F771F	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			15	2553	+			771			Sushi 13.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.2313C>T	CCDS1385.1																																																																																				0.299	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		4	58	0	0	0	1	0	4	58				
PCDHGA11	56105	broad.mit.edu	37	5	140802483	140802483	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140802483C>T	ENST00000398587.2	+	1	1722	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Silent_p.I563I|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	563	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)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCTG	0.647																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1687-1689)atC>atT									140.0	160.0	153.0					5																	140802483		2203	4300	6503	SO:0001819	synonymous_variant	56105							g.chr5:140802483C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1689C>T	5.37:g.140802483C>T						PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.I563I|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.I563I	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.1689C>T	CCDS47294.1																																																																																				0.647	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		16	274	0	0	0	1	0	16	274				
ITGA2B	3674	broad.mit.edu	37	17	42452043	42452043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42452043G>A	ENST00000262407.5	-	28	2958	c.2927C>T	c.(2926-2928)cCc>cTc	p.P976L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TTCCCCTCGGGGCAGGCTGAG	0.637																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2926-2928)cCc>cTc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						49.0	54.0	53.0					17																	42452043		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42452043G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2927C>T	17.37:g.42452043G>A	ENSP00000262407:p.Pro976Leu					ITGA2B_ENST00000353281.4_Intron	p.P976L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	28	2958	-		Prostate(33;0.0181)	976					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.2927C>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125109	0.20959	.	.	ENSG00000005961	ENST00000262407	T	0.49139	0.79	4.58	4.58	0.56647	.	0.000000	0.34932	N	0.003571	T	0.38532	0.1044	M	0.71036	2.16	0.80722	D	1	P	0.39809	0.689	B	0.29942	0.109	T	0.27054	-1.0085	10	0.25751	T	0.34	.	8.4802	0.33038	0.1041:0.0:0.8959:0.0	.	976	P08514	ITA2B_HUMAN	L	976	ENSP00000262407:P976L	ENSP00000262407:P976L	P	-	2	0	ITGA2B	39807569	0.998000	0.40836	0.960000	0.40013	0.050000	0.14768	2.924000	0.48876	2.386000	0.81285	0.561000	0.74099	CCC		0.637	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			4	74	0	0	0	1	0	4	74				
ASPH	444	broad.mit.edu	37	8	62496584	62496584	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:62496584C>T	ENST00000379454.4	-	15	1168	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ASPH_ENST00000541428.1_Silent_p.K298K|ASPH_ENST00000523897.1_5'UTR	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	327	Poly-Lys.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCTTCTTTTTCTTAACTGAAA	0.284																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(892-894)aaG>aaA		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						38.0	40.0	39.0					8																	62496584		2202	4290	6492	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62496584C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.981G>A	8.37:g.62496584C>T						ASPH_ENST00000379454.4_Silent_p.K327K|ASPH_ENST00000523897.1_5'UTR	p.K298K	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			15	1054	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	327			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.894G>A	CCDS34898.1																																																																																				0.284	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		10	59	0	0	0	1	0	10	59				
OR1N2	138882	broad.mit.edu	37	9	125315733	125315733	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125315733C>T	ENST00000373688.2	+	1	343	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGCCTCCATCCCCAAAATGC	0.478																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(283-285)atC>atT		olfactory receptor, family 1, subfamily N, member 2							258.0	253.0	255.0					9																	125315733		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315733C>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.285C>T	9.37:g.125315733C>T							p.I95I	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	343	+			95					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.285C>T	CCDS35123.1																																																																																				0.478	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			15	229	0	0	0	1	0	15	229				
PTPRZ1	5803	broad.mit.edu	37	7	121652102	121652102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:121652102C>T	ENST00000393386.2	+	12	3413	c.3002C>T	c.(3001-3003)tCt>tTt	p.S1001F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1001					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGAGCCTCTTCTGATAGTGAA	0.423																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3001-3003)tCt>tTt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							130.0	129.0	129.0					7																	121652102		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652102C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3002C>T	7.37:g.121652102C>T	ENSP00000377047:p.Ser1001Phe					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.S1001F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3413	+			1001					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3002C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580106	0.65992	.	.	ENSG00000106278	ENST00000393386	T	0.59772	0.24	5.47	5.47	0.80525	.	0.159070	0.44902	D	0.000415	T	0.76723	0.4027	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78311	-0.2253	10	0.66056	D	0.02	.	19.3211	0.94240	0.0:1.0:0.0:0.0	.	1001	P23471	PTPRZ_HUMAN	F	1001	ENSP00000377047:S1001F	ENSP00000377047:S1001F	S	+	2	0	PTPRZ1	121439338	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.966000	0.56795	2.562000	0.86427	0.650000	0.86243	TCT		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	182	0	0	0	1	0	8	182				
PPP4R1	9989	broad.mit.edu	37	18	9559565	9559565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr18:9559565G>A	ENST00000400556.3	-	14	1953	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S610F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	627					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GTCAGTCATAGATAAATACTG	0.458																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1879-1881)tCt>tTt		protein phosphatase 4, regulatory subunit 1							97.0	90.0	92.0					18																	9559565		1974	4170	6144	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559565G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1880C>T	18.37:g.9559565G>A	ENSP00000383402:p.Ser627Phe					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S610F	p.S627F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	1953	-			627					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1880C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875778	0.91664	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.34667	1.35;1.35	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.85777	2.775	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.993	D;D;D	0.73380	0.973;0.98;0.975	T	0.68988	-0.5264	9	.	.	.	-22.4758	19.5562	0.95349	0.0:0.0:1.0:0.0	.	610;627;610	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	627;610	ENSP00000383402:S627F;ENSP00000383401:S610F	.	S	-	2	0	PPP4R1	9549565	1.000000	0.71417	0.616000	0.29078	0.987000	0.75469	9.476000	0.97823	2.628000	0.89032	0.650000	0.86243	TCT		0.458	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		10	148	0	0	0	1	0	10	148				
COL15A1	1306	broad.mit.edu	37	9	101822189	101822189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:101822189C>T	ENST00000375001.3	+	36	3779	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1119	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCAGGTCCCCCTGGCCCT	0.473																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3355-3357)cCc>cTc		collagen, type XV, alpha 1							166.0	158.0	161.0					9																	101822189		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101822189C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3356C>T	9.37:g.101822189C>T	ENSP00000364140:p.Pro1119Leu						p.P1119L	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			36	3779	+		Acute lymphoblastic leukemia(62;0.0562)	1119			Triple-helical region 9 (COL9).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3356C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899653	0.72754	.	.	ENSG00000204291	ENST00000375001	D	0.91631	-2.88	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94649	0.7837	10	0.44086	T	0.13	-8.9712	17.8559	0.88762	0.0:1.0:0.0:0.0	.	1119	P39059	COFA1_HUMAN	L	1119	ENSP00000364140:P1119L	ENSP00000364140:P1119L	P	+	2	0	COL15A1	100862010	0.999000	0.42202	0.974000	0.42286	0.995000	0.86356	6.058000	0.71126	2.894000	0.99253	0.655000	0.94253	CCC		0.473	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		10	124	0	0	0	1	0	10	124				
HERC2P3	283755	broad.mit.edu	37	15	20588684	20588684	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:20588684C>T	ENST00000428453.1	-	0	4066							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTTCTTCTCCAAAAACAACA	0.313																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															126.0	92.0	103.0					15																	20588684		2181	4241	6422			283755							g.chr15:20588684C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588684C>T														0	4066	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.313	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	81	0	0	0	1	0	4	81				
UBXN11	91544	broad.mit.edu	37	1	26610676	26610676	+	Missense_Mutation	SNP	C	C	T	rs376727355		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:26610676C>T	ENST00000374222.1	-	13	1498	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	UBXN11_ENST00000374221.3_Missense_Mutation_p.G345D|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102D|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312D|UBXN11_ENST00000314675.7_Missense_Mutation_p.G225D|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312D			Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AATCACCTCGCCTTGCCGGAT	0.592																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(673-675)gGc>gAc		UBX domain protein 11		C	ASP/GLY,ASP/GLY,ASP/GLY	0,3782		0,0,1891	116.0	123.0	121.0		1034,935,674	5.0	1.0	1		121	2,8206		0,2,4102	no	missense,missense,missense	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	94,94,94	0,2,5993	TT,TC,CC		0.0244,0.0,0.0167	benign,benign,benign	345/521,312/488,225/401	26610676	2,11988	1891	4104	5995	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26610676C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1034G>A	1.37:g.26610676C>T	ENSP00000363339:p.Gly345Asp					UBXN11_ENST00000374221.3_Missense_Mutation_p.G345D|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312D|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312D|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102D|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345D	p.G225D	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			8	753	-			345					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.674G>A	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751144	0.89753	0.0	2.44E-4	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.33654	1.4;1.4;1.58;1.45;1.45;1.58	5.01	5.01	0.66863	.	0.161726	0.56097	D	0.000035	T	0.61714	0.2369	M	0.73962	2.25	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.09	D;D;D;B	0.97110	0.987;1.0;1.0;0.061	T	0.66666	-0.5866	10	0.87932	D	0	-13.227	17.0848	0.86608	0.0:1.0:0.0:0.0	.	312;307;225;345	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	D	225;102;312;345;345;312	ENSP00000324721:G225D;ENSP00000363340:G102D;ENSP00000349601:G312D;ENSP00000363338:G345D;ENSP00000363339:G345D;ENSP00000363334:G312D	ENSP00000324721:G225D	G	-	2	0	UBXN11	26483263	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.360000	0.73064	2.340000	0.79590	0.491000	0.48974	GGC		0.592	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		12	185	0	0	0	1	0	12	185				
LEPR	3953	broad.mit.edu	37	1	66075730	66075730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:66075730G>A	ENST00000349533.6	+	13	2038	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.G618E|LEPR_ENST00000344610.8_Missense_Mutation_p.G618E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.G618E|LEPR_ENST00000371060.3_Missense_Mutation_p.G618E	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGCTAGATGGACTGGGATAT	0.413																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1852-1854)gGa>gAa		leptin receptor							162.0	152.0	156.0					1																	66075730		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075730G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1853G>A	1.37:g.66075730G>A	ENSP00000330393:p.Gly618Glu					LEPR_ENST00000371059.3_Missense_Mutation_p.G618E|LEPR_ENST00000344610.8_Missense_Mutation_p.G618E|LEPR_ENST00000371058.1_Missense_Mutation_p.G618E|LEPR_ENST00000371060.3_Missense_Mutation_p.G618E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	p.G618E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	13	2038	+			618			Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1853G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095468	0.56075	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.048700	0.85682	D	0.000000	T	0.75532	0.3862	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.988;0.996;0.988	T	0.77645	-0.2510	10	0.62326	D	0.03	-15.4486	18.909	0.92475	0.0:0.0:1.0:0.0	.	618;618;618	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	E	618	ENSP00000340884:G618E;ENSP00000330393:G618E;ENSP00000360099:G618E;ENSP00000360098:G618E;ENSP00000360097:G618E	ENSP00000340884:G618E	G	+	2	0	LEPR	65848318	1.000000	0.71417	0.874000	0.34290	0.009000	0.06853	4.266000	0.58871	2.454000	0.82982	0.650000	0.86243	GGA		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		10	199	0	0	0	1	0	10	199				
MUC13	56667	broad.mit.edu	37	3	124646391	124646391	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:124646391G>A	ENST00000311075.3	-	2	537	c.499C>T	c.(499-501)Cta>Tta	p.L167L	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	168	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTGCTGTTTAGGGTGCTGGTC	0.498																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(499-501)Cta>Tta		mucin 13, cell surface associated							178.0	157.0	164.0					3																	124646391		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646391G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.499C>T	3.37:g.124646391G>A							p.L167L	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			2	537	-			167			Thr-rich.		Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.499C>T																																																																																					0.498	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		16	147	0	0	0	1	0	16	147				
ZSCAN5B	342933	broad.mit.edu	37	19	56704077	56704077	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:56704077C>T	ENST00000586855.2	-	2	658	c.345G>A	c.(343-345)ctG>ctA	p.L115L	ZSCAN5B_ENST00000358992.3_Silent_p.L115L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAGGTCCTCCAGGTCTTTGC	0.542																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(343-345)ctG>ctA		zinc finger and SCAN domain containing 5B							45.0	49.0	48.0					19																	56704077		2200	4292	6492	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704077C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.345G>A	19.37:g.56704077C>T						ZSCAN5B_ENST00000358992.3_Silent_p.L115L	p.L115L			A6NJL1	ZSA5B_HUMAN			2	658	-			115			SCAN box.			Silent	SNP	ENST00000586855.2	37	c.345G>A	CCDS46203.1																																																																																				0.542	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		4	69	0	0	0	1	0	4	69				
NOTCH1	4851	broad.mit.edu	37	9	139391980	139391980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139391980C>T	ENST00000277541.6	-	34	6286	c.6211G>A	c.(6211-6213)Gag>Aag	p.E2071K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2071					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TAGCTGCCCTCCCGGGCGGCC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6211-6213)Gag>Aag		notch 1							19.0	21.0	20.0					9																	139391980		2110	4233	6343	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391980C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6211G>A	9.37:g.139391980C>T	ENSP00000277541:p.Glu2071Lys	HNSCC(8;0.001)					p.E2071K	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6286	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2071					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6211G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243314	0.79912	.	.	ENSG00000148400	ENST00000277541	T	0.63417	-0.04	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.104870	0.64402	D	0.000005	T	0.56156	0.1966	L	0.33293	1	0.80722	D	1	P	0.36183	0.542	B	0.36608	0.229	T	0.61456	-0.7059	10	0.87932	D	0	.	18.5525	0.91071	0.0:1.0:0.0:0.0	.	2071	P46531	NOTC1_HUMAN	K	2071	ENSP00000277541:E2071K	ENSP00000277541:E2071K	E	-	1	0	NOTCH1	138511801	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.613000	0.82986	2.703000	0.92315	0.561000	0.74099	GAG		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	38	0	0	0	1	0	4	38				
MIOS	54468	broad.mit.edu	37	7	7612474	7612474	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:7612474C>T	ENST00000340080.4	+	4	789	c.368C>T	c.(367-369)cCa>cTa	p.P123L	MIOS_ENST00000405785.1_Missense_Mutation_p.P123L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	123						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTGGAATCCACTGGATAGT	0.393																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(367-369)cCa>cTa		missing oocyte, meiosis regulator, homolog (Drosophila)							130.0	119.0	122.0					7																	7612474		1872	4113	5985	SO:0001583	missense	54468							g.chr7:7612474C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.368C>T	7.37:g.7612474C>T	ENSP00000339881:p.Pro123Leu					MIOS_ENST00000405785.1_Missense_Mutation_p.P123L	p.P123L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	789	+			123					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.368C>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751435	0.69533	.	.	ENSG00000164654	ENST00000340080;ENST00000405785;ENST00000433635;ENST00000456533	T;T;T;T	0.73047	-0.71;-0.71;-0.51;-0.51	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.60845	1.875	0.80722	D	1	P	0.42248	0.774	B	0.42282	0.382	T	0.70861	-0.4757	10	0.39692	T	0.17	-16.4957	20.5471	0.99284	0.0:1.0:0.0:0.0	.	123	Q9NXC5	MIO_HUMAN	L	123	ENSP00000339881:P123L;ENSP00000384088:P123L;ENSP00000413050:P123L;ENSP00000410752:P123L	ENSP00000339881:P123L	P	+	2	0	MIOS	7578999	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.434000	0.80377	2.941000	0.99782	0.655000	0.94253	CCA		0.393	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		12	221	0	0	0	1	0	12	221				
ETNK2	55224	broad.mit.edu	37	1	204106278	204106278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:204106278G>A	ENST00000367202.4	-	6	1118	c.968C>T	c.(967-969)cCc>cTc	p.P323L	ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367199.2_Missense_Mutation_p.P254L|ETNK2_ENST00000367198.2_Missense_Mutation_p.P145L|ETNK2_ENST00000367201.3_Missense_Mutation_p.P323L|ETNK2_ENST00000367197.1_Missense_Mutation_p.P5L	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	323					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCCCTGGGGGTCACGGC	0.592																																						ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(760-762)cCc>cTc		ethanolamine kinase 2							118.0	111.0	114.0					1																	204106278		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204106278G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.968C>T	1.37:g.204106278G>A	ENSP00000356170:p.Pro323Leu					ETNK2_ENST00000367198.2_Missense_Mutation_p.P145L|ETNK2_ENST00000367197.1_Missense_Mutation_p.P5L|ETNK2_ENST00000367202.4_Missense_Mutation_p.P323L|ETNK2_ENST00000367201.3_Missense_Mutation_p.P323L	p.P254L			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1171	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		323					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.761C>T	CCDS1442.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.797583|2.797583	0.50208|0.50208	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197;ENST00000422699;ENST00000452983|ENST00000422072	T;T;T;T;T;T;T|T	0.58060|0.56103	0.36;0.36;0.36;0.36;0.36;0.36;0.36|0.48	5.32|5.32	5.32|5.32	0.75619|0.75619	Protein kinase-like domain (1);|.	0.613774|0.613774	0.16965|0.16965	N|N	0.192346|0.192346	T|T	0.60011|0.60011	0.2236|0.2236	M|M	0.64997|0.64997	1.995|1.995	0.42409|0.42409	D|D	0.992598|0.992598	B;B;P|.	0.35272|.	0.143;0.043;0.493|.	B;B;B|.	0.29785|.	0.062;0.028;0.107|.	T|T	0.54091|0.54091	-0.8345|-0.8345	10|8	0.49607|0.25106	T|T	0.09|0.35	.|.	11.7399|11.7399	0.51786|0.51786	0.0:0.0:0.7778:0.2222|0.0:0.0:0.7778:0.2222	.|.	282;323;323|.	Q9NVF9-3;Q9NVF9;Q9NVF9-2|.	.;EKI2_HUMAN;.|.	L|S	323;323;254;189;145;5;189;180|86	ENSP00000356169:P323L;ENSP00000356170:P323L;ENSP00000356167:P254L;ENSP00000356166:P145L;ENSP00000356165:P5L;ENSP00000405497:P189L;ENSP00000398091:P180L|ENSP00000410580:P86S	ENSP00000356165:P5L|ENSP00000410580:P86S	P|P	-|-	2|1	0|0	ETNK2|ETNK2	202372901|202372901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	1.556000|1.556000	0.36288|0.36288	2.487000|2.487000	0.83934|0.83934	0.313000|0.313000	0.20887|0.20887	CCC|CCA		0.592	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		7	155	0	0	0	1	0	7	155				
HS3ST4	9951	broad.mit.edu	37	16	26147009	26147009	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:26147009C>T	ENST00000331351.5	+	2	1203	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	271					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAATGAGGCTCCCAAGCGCAT	0.488																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(811-813)Ccc>Tcc		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							110.0	101.0	104.0					16																	26147009		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147009C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.811C>T	16.37:g.26147009C>T	ENSP00000330606:p.Pro271Ser					HS3ST4_ENST00000475436.1_3'UTR	p.P271S	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1203	+			271					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.811C>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720936	0.89205	.	.	ENSG00000182601	ENST00000331351	T	0.60424	0.19	5.25	5.25	0.73442	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.85008	0.5599	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90562	0.4516	10	0.87932	D	0	.	17.8082	0.88608	0.0:1.0:0.0:0.0	.	271	Q9Y661	HS3S4_HUMAN	S	271	ENSP00000330606:P271S	ENSP00000330606:P271S	P	+	1	0	HS3ST4	26054510	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.787000	0.85759	2.445000	0.82738	0.655000	0.94253	CCC		0.488	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		8	145	0	0	0	1	0	8	145				
ZNF808	388558	broad.mit.edu	37	19	53056775	53056775	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53056775C>T	ENST00000359798.4	+	5	786	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	202					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCCCCAAATCCATATTTCTA	0.368																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(604-606)atC>atT		zinc finger protein 808							119.0	129.0	126.0					19																	53056775		2198	4298	6496	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056775C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.606C>T	19.37:g.53056775C>T							p.I202I	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	786	+			202					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.606C>T	CCDS46167.1																																																																																				0.368	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		18	276	0	0	0	1	0	18	276				
SULT1C3	442038	broad.mit.edu	37	2	108872055	108872055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:108872055G>A	ENST00000329106.2	+	4	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	143					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.D143N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATCCCAAGGATTGCCTGGT	0.428																																						ENST00000329106.2																			1	Substitution - Missense(1)	p.D143N(1)	kidney(1)	breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(427-429)Gat>Aat		sulfotransferase family, cytosolic, 1C, member 3							125.0	122.0	123.0					2																	108872055		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108872055G>A	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.427G>A	2.37:g.108872055G>A	ENSP00000333310:p.Asp143Asn					SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			4	427	+			143					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.427G>A	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454580	0.63290	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.03889	3.77;3.77	3.58	3.58	0.41010	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000014	T	0.38134	0.1029	H	0.99261	4.49	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.65841	-0.6070	10	0.87932	D	0	.	14.7244	0.69332	0.0:0.0:1.0:0.0	.	143	Q6IMI6	ST1C3_HUMAN	N	143	ENSP00000333310:D143N;ENSP00000365890:D143N	ENSP00000333310:D143N	D	+	1	0	SULT1C3	108238487	1.000000	0.71417	0.791000	0.31998	0.222000	0.24845	8.109000	0.89561	1.989000	0.58080	0.650000	0.86243	GAT		0.428	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		8	135	0	0	0	1	0	8	135				
SELE	6401	broad.mit.edu	37	1	169697005	169697005	+	Missense_Mutation	SNP	A	A	T	rs199700651	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:169697005A>T	ENST00000333360.7	-	9	1482	c.1343T>A	c.(1342-1344)aTt>aAt	p.I448N	SELE_ENST00000367777.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.I385N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.I323N|SELE_ENST00000367780.4_Missense_Mutation_p.I323N|SELE_ENST00000367781.4_Missense_Mutation_p.I385N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	448	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GAATTCTCCAATAGGGGAATG	0.493																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1342-1344)aTt>aAt		selectin E							99.0	95.0	97.0					1																	169697005		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697005A>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1343T>A	1.37:g.169697005A>T	ENSP00000331736:p.Ile448Asn					SELE_ENST00000367781.4_Missense_Mutation_p.I385N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.I323N|SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.I323N|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.I385N	p.I448N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			9	1482	-	all_hematologic(923;0.208)		448			Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1343T>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876384	0.33162	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.9	2.87	0.33458	Complement control module (2);Sushi/SCR/CCP (3);	0.679876	0.12945	N	0.426287	T	0.27169	0.0666	N	0.02985	-0.445	0.09310	N	0.999993	B	0.06786	0.001	B	0.10450	0.005	T	0.20505	-1.0273	10	0.59425	D	0.04	-0.1422	5.2307	0.15420	0.1822:0.1683:0.6495:0.0	.	448	P16581	LYAM2_HUMAN	N	385;323;448;323;385	ENSP00000356755:I385N;ENSP00000356754:I323N;ENSP00000331736:I448N;ENSP00000356749:I323N;ENSP00000356750:I385N	ENSP00000331736:I448N	I	-	2	0	SELE	167963629	0.000000	0.05858	0.126000	0.21872	0.595000	0.36748	-0.000000	0.12993	0.821000	0.34540	-0.248000	0.11899	ATT		0.493	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		12	150	0	0	0	1	0	12	150				
LRRC37A6P	387646	broad.mit.edu	37	10	27539670	27539670	+	lincRNA	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:27539670A>T	ENST00000574842.1	+	0	939				LRRC37A6P_ENST00000284414.4_RNA																							TTTAACTGTAATGTTGGGCAA	0.468																																						ENST00000574842.1																			0																																																			387646							g.chr10:27539670A>T																													10.37:g.27539670A>T														0	939	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.468	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			16	293	0	0	0	1	0	16	293				
OR2T4	127074	broad.mit.edu	37	1	248525564	248525564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248525564G>A	ENST00000366475.1	+	1	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCACTCTATGAGATTTTCAT	0.478																																						ENST00000366475.1																			1	Substitution - Missense(1)	p.E228K(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(682-684)Gag>Aag		olfactory receptor, family 2, subfamily T, member 4							167.0	162.0	164.0					1																	248525564		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525564G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.682G>A	1.37:g.248525564G>A	ENSP00000355431:p.Glu228Lys						p.E228K	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	682	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.682G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	8.742	0.919189	0.17982	.	.	ENSG00000196944	ENST00000366475	T	0.00207	8.55	3.61	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00210	0.0006	L	0.55834	1.745	0.26269	N	0.978457	B	0.28291	0.206	B	0.34385	0.181	T	0.23261	-1.0193	10	0.59425	D	0.04	.	11.8646	0.52486	0.0:0.1782:0.8218:0.0	.	228	Q8NH00	OR2T4_HUMAN	K	228	ENSP00000355431:E228K	ENSP00000355431:E228K	E	+	1	0	OR2T4	246592187	0.000000	0.05858	0.032000	0.17829	0.095000	0.18619	0.559000	0.23485	1.543000	0.49345	0.585000	0.79938	GAG		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		9	230	0	0	0	1	0	9	230				
ESPL1	9700	broad.mit.edu	37	12	53664573	53664573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53664573G>A	ENST00000257934.4	+	5	1451	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	ESPL1_ENST00000552462.1_Missense_Mutation_p.G454R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	454					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGACCACATGGGGATGACCGG	0.567																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1360-1362)Ggg>Agg		extra spindle pole bodies homolog 1 (S. cerevisiae)							102.0	87.0	92.0					12																	53664573		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53664573G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1360G>A	12.37:g.53664573G>A	ENSP00000257934:p.Gly454Arg					ESPL1_ENST00000552462.1_Missense_Mutation_p.G454R	p.G454R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			5	1451	+			454						Missense_Mutation	SNP	ENST00000257934.4	37	c.1360G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841773	0.16963	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11063	2.81;2.81	4.95	4.04	0.47022	.	0.314447	0.32935	N	0.005473	T	0.13329	0.0323	M	0.65975	2.015	0.24075	N	0.995969	P	0.34780	0.468	B	0.36030	0.216	T	0.11446	-1.0587	10	0.33141	T	0.24	.	9.5259	0.39165	0.0975:0.0:0.9025:0.0	.	454	Q14674	ESPL1_HUMAN	R	454;129;454	ENSP00000257934:G454R;ENSP00000449831:G454R	ENSP00000257934:G454R	G	+	1	0	ESPL1	51950840	0.809000	0.29036	0.992000	0.48379	0.626000	0.37791	1.745000	0.38278	1.279000	0.44446	0.561000	0.74099	GGG		0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		5	88	0	0	0	1	0	5	88				
SHCBP1	79801	broad.mit.edu	37	16	46638355	46638355	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:46638355T>A	ENST00000303383.3	-	6	974	c.708A>T	c.(706-708)gaA>gaT	p.E236D		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	236					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAACTCGGTCTTCAAGAATGT	0.383																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(706-708)gaA>gaT		SHC SH2-domain binding protein 1							80.0	81.0	81.0					16																	46638355		2203	4299	6502	SO:0001583	missense	79801							g.chr16:46638355T>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.708A>T	16.37:g.46638355T>A	ENSP00000306473:p.Glu236Asp						p.E236D	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			6	974	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	236					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.708A>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	T	9.405	1.079068	0.20227	.	.	ENSG00000171241	ENST00000303383	T	0.24908	1.83	4.13	3.03	0.35002	.	0.048808	0.85682	D	0.000000	T	0.35770	0.0943	L	0.43923	1.385	0.48901	D	0.999721	D	0.76494	0.999	D	0.78314	0.991	T	0.05115	-1.0905	10	0.23891	T	0.37	-8.4855	8.1678	0.31237	0.0:0.2345:0.0:0.7655	.	236	Q8NEM2	SHCBP_HUMAN	D	236	ENSP00000306473:E236D	ENSP00000306473:E236D	E	-	3	2	SHCBP1	45195856	0.995000	0.38212	1.000000	0.80357	0.278000	0.26855	0.193000	0.17116	0.733000	0.32492	0.377000	0.23210	GAA		0.383	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		10	137	0	0	0	1	0	10	137				
KRT35	3886	broad.mit.edu	37	17	39637133	39637133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:39637133G>A	ENST00000393989.1	-	1	259	c.217C>T	c.(217-219)Cct>Tct	p.P73S	KRT35_ENST00000246639.2_Missense_Mutation_p.P43S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	73	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTCCAGCAGGGAGGCAGAGA	0.612																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(127-129)Cct>Tct		keratin 35							34.0	39.0	37.0					17																	39637133		2130	4245	6375	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637133G>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.217C>T	17.37:g.39637133G>A	ENSP00000377558:p.Pro73Ser					KRT35_ENST00000393989.1_Missense_Mutation_p.P73S	p.P43S			Q92764	KRT35_HUMAN			1	259	-		Breast(137;0.000286)	73			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.127C>T	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	G	3.816	-0.038723	0.07497	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.80738	-1.41;-1.34	4.91	4.91	0.64330	.	0.218773	0.32901	N	0.005505	T	0.72890	0.3517	L	0.35644	1.08	0.09310	N	1	B	0.27656	0.184	B	0.31390	0.129	T	0.62779	-0.6782	10	0.32370	T	0.25	.	12.7245	0.57162	0.0816:0.0:0.9184:0.0	.	73	Q92764	KRT35_HUMAN	S	43;73	ENSP00000246639:P43S;ENSP00000377558:P73S	ENSP00000246639:P43S	P	-	1	0	KRT35	36890659	0.997000	0.39634	0.980000	0.43619	0.113000	0.19764	4.421000	0.59848	2.545000	0.85829	0.462000	0.41574	CCT		0.612	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		4	62	0	0	0	1	0	4	62				
SPRY2	10253	broad.mit.edu	37	13	80911637	80911637	+	Silent	SNP	C	C	T	rs369061793		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:80911637C>T	ENST00000377102.1	-	2	1181	c.204G>A	c.(202-204)aaG>aaA	p.K68K	SPRY2_ENST00000540649.1_Silent_p.K68K|SPRY2_ENST00000377104.3_Silent_p.K68K			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	68					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GAGGAGCAGGCTTGAGCCCAG	0.587																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	GRCh37	CM055542	SPRY2	M		c.(202-204)aaG>aaA		sprouty homolog 2 (Drosophila)							92.0	92.0	92.0					13																	80911637		2203	4300	6503	SO:0001819	synonymous_variant	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911637C>T	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.204G>A	13.37:g.80911637C>T						SPRY2_ENST00000540649.1_Silent_p.K68K|SPRY2_ENST00000377104.3_Silent_p.K68K	p.K68K			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1181	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	68					B2R9J9|Q5T6Z7	Silent	SNP	ENST00000377102.1	37	c.204G>A	CCDS9463.1																																																																																				0.587	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			8	111	0	0	0	1	0	8	111				
DARS	1615	broad.mit.edu	37	2	136736889	136736889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:136736889C>A	ENST00000264161.4	-	3	387	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	DARS_ENST00000463008.1_5'UTR|DARS_ENST00000537273.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	58					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CAAACAACTTCATCAGCTTTT	0.333																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(172-174)Gaa>Taa		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						151.0	157.0	155.0					2																	136736889		2203	4300	6503	SO:0001587	stop_gained	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136736889C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.172G>T	2.37:g.136736889C>A	ENSP00000264161:p.Glu58*					DARS_ENST00000537273.1_5'UTR|DARS_ENST00000463008.1_5'UTR	p.E58*	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	3	387	-			58					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Nonsense_Mutation	SNP	ENST00000264161.4	37	c.172G>T	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470084	0.63625	.	.	ENSG00000115866	ENST00000264161;ENST00000441323;ENST00000456565;ENST00000449218	.	.	.	5.34	5.34	0.76211	.	0.142496	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5163	16.3312	0.83015	0.0:1.0:0.0:0.0	.	.	.	.	X	58;25;25;25	.	ENSP00000264161:E58X	E	-	1	0	DARS	136453359	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.613000	0.54152	2.655000	0.90218	0.462000	0.41574	GAA		0.333	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		10	168	1	0	5.16669e-11	1	5.29879e-11	10	168				
IL7R	3575	broad.mit.edu	37	5	35876365	35876365	+	Missense_Mutation	SNP	G	G	A	rs201790771		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35876365G>A	ENST00000303115.3	+	8	1286	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	386				R -> G (in Ref. 7; AAH67539). {ECO:0000305}.	B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCCTCTTCCAGGTCCCTAGAC	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1156-1158)aGg>aAg		interleukin 7 receptor							93.0	85.0	88.0					5																	35876365		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876365G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1157G>A	5.37:g.35876365G>A	ENSP00000306157:p.Arg386Lys					IL7R_ENST00000343305.4_3'UTR	p.R386K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1286	+	all_lung(31;0.00015)		386	R -> G (in Ref. 7; AAH67539).				B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1157G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	9.744	1.165682	0.21538	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.29397	1.99;1.57	5.6	3.57	0.40892	.	3.705430	0.00166	N	0.000017	T	0.24812	0.0602	L	0.43923	1.385	0.19300	N	0.999977	B	0.14438	0.01	B	0.13407	0.009	T	0.39231	-0.9624	10	0.02654	T	1	-21.3391	5.417	0.16380	0.2756:0.0:0.7244:0.0	.	386	P16871	IL7RA_HUMAN	K	386;152	ENSP00000306157:R386K;ENSP00000420923:R152K	ENSP00000306157:R386K	R	+	2	0	IL7R	35912122	0.002000	0.14202	0.002000	0.10522	0.175000	0.22909	0.917000	0.28665	1.350000	0.45770	0.655000	0.94253	AGG		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			12	80	0	0	0	1	0	12	80				
PLS1	5357	broad.mit.edu	37	3	142416889	142416889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:142416889C>T	ENST00000337777.3	+	12	1564	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	PLS1_ENST00000457734.2_Missense_Mutation_p.L451F|PLS1_ENST00000497002.1_Missense_Mutation_p.L451F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	451	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTATCCTGCCCTTGGAGGGAA	0.403																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(1351-1353)Ctt>Ttt		plastin 1							99.0	90.0	93.0					3																	142416889		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142416889C>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1351C>T	3.37:g.142416889C>T	ENSP00000336831:p.Leu451Phe					PLS1_ENST00000457734.2_Missense_Mutation_p.L451F|PLS1_ENST00000497002.1_Missense_Mutation_p.L451F	p.L451F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			12	1564	+			451			Actin-binding 2.|CH 3.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.1351C>T	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017341	0.93404	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95724	-3.79;-3.79;-3.79	5.86	5.86	0.93980	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97950	1.0331	10	0.72032	D	0.01	-16.2269	20.1772	0.98182	0.0:1.0:0.0:0.0	.	451	Q14651	PLSI_HUMAN	F	451	ENSP00000387890:L451F;ENSP00000336831:L451F;ENSP00000418700:L451F	ENSP00000336831:L451F	L	+	1	0	PLS1	143899579	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	4.755000	0.62198	2.778000	0.95560	0.655000	0.94253	CTT		0.403	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		8	41	0	0	0	1	0	8	41				
CDHR2	54825	broad.mit.edu	37	5	176017686	176017686	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:176017686G>A	ENST00000510636.1	+	28	3811	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	CDHR2_ENST00000261944.5_Silent_p.K1179K|CDHR2_ENST00000506348.1_Silent_p.K1179K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1179					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGTGCGGAAGAGGTGCGGCT	0.587																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3535-3537)aaG>aaA		cadherin-related family member 2							219.0	186.0	197.0					5																	176017686		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176017686G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3537G>A	5.37:g.176017686G>A						CDHR2_ENST00000261944.5_Silent_p.K1179K|CDHR2_ENST00000506348.1_Silent_p.K1179K	p.K1179K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			28	3811	+			1179					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3537G>A	CCDS34297.1																																																																																				0.587	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	97	0	0	0	1	0	7	97				
ARHGEF5	7984	broad.mit.edu	37	7	144060432	144060432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:144060432C>T	ENST00000056217.5	+	2	844	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	224					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTTGCATCCCCAGGAGGT	0.567																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(670-672)Ccc>Tcc		Rho guanine nucleotide exchange factor (GEF) 5							108.0	120.0	116.0					7																	144060432		2171	4266	6437	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060432C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.670C>T	7.37:g.144060432C>T	ENSP00000056217:p.Pro224Ser						p.P224S	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	844	+	Melanoma(164;0.14)		224					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.670C>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	5.838	0.338762	0.11069	.	.	ENSG00000050327	ENST00000056217	T	0.73047	-0.71	4.05	1.18	0.20946	.	1.152660	0.06855	N	0.798028	T	0.57036	0.2026	L	0.33485	1.01	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.37079	-0.9721	9	.	.	.	-2.3176	6.2549	0.20867	0.0:0.6663:0.0:0.3337	.	224	Q12774	ARHG5_HUMAN	S	224	ENSP00000056217:P224S	.	P	+	1	0	ARHGEF5	143691365	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.531000	0.23052	0.048000	0.15891	-0.142000	0.14014	CCC		0.567	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		10	270	0	0	0	1	0	10	270				
IGHV1-18	28468	broad.mit.edu	37	14	106641939	106641939	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:106641939G>A	ENST00000390605.2	-	0	105									immunoglobulin heavy variable 1-18																		CCTGGGACTGGGGAGTCCGTT	0.587																																						ENST00000390605.2																			0																				62.0	61.0	61.0					14																	106641939		1936	4128	6064			28468							g.chr14:106641939G>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641939G>A														0	105	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.587	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		8	67	0	0	0	1	0	8	67				
CDH9	1007	broad.mit.edu	37	5	26903817	26903817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:26903817C>T	ENST00000231021.4	-	6	1100	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	310	Cadherin 3. {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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCACCATCTCCTTCAGCAATG	0.428																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(928-930)Gga>Aga		cadherin 9, type 2 (T1-cadherin)							298.0	260.0	273.0					5																	26903817		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903817C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.928G>A	5.37:g.26903817C>T	ENSP00000231021:p.Gly310Arg						p.G310R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1100	-			310			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.928G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926075	0.92319	.	.	ENSG00000113100	ENST00000231021	T	0.45276	0.9	5.74	5.74	0.90152	Cadherin (4);Cadherin-like (1);	0.051803	0.85682	D	0.000000	T	0.73063	0.3539	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77640	-0.2512	9	.	.	.	.	18.906	0.92462	0.0:1.0:0.0:0.0	.	310	Q9ULB4	CADH9_HUMAN	R	310	ENSP00000231021:G310R	.	G	-	1	0	CDH9	26939574	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.671000	0.61590	2.881000	0.98747	0.650000	0.86243	GGA		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		34	268	0	0	0	1	0	34	268				
MRVI1	10335	broad.mit.edu	37	11	10648011	10648011	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:10648011C>T	ENST00000436272.1	-	8	867	c.789G>A	c.(787-789)aaG>aaA	p.K263K	MRVI1_ENST00000531107.1_Silent_p.K282K|MRVI1_ENST00000547195.1_Silent_p.K199K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000552103.1_Silent_p.K199K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000421747.1_Silent_p.K281K|MRVI1_ENST00000423302.2_Silent_p.K290K|MRVI1_ENST00000527509.2_Silent_p.K199K|MRVI1_ENST00000424001.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	263					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGAAGTTTTCCTTTTGTTCTA	0.532																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(595-597)aaG>aaA		murine retrovirus integration site 1 homolog							106.0	110.0	108.0					11																	10648011		1942	4127	6069	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10648011C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.789G>A	11.37:g.10648011C>T						MRVI1_ENST00000421747.1_Silent_p.K281K|MRVI1_ENST00000527509.2_Silent_p.K199K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000531107.1_Silent_p.K282K|MRVI1_ENST00000552103.1_Silent_p.K199K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000436272.1_Silent_p.K263K|MRVI1_ENST00000423302.2_Silent_p.K290K	p.K199K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1097	-			263					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.597G>A																																																																																					0.532	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		4	32	0	0	0	1	0	4	32				
CYP2J2	1573	broad.mit.edu	37	1	60381704	60381704	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:60381704G>A	ENST00000371204.3	-	2	322	c.279C>T	c.(277-279)ggC>ggT	p.G93G	CYP2J2_ENST00000492633.1_5'Flank	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	93					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	TTAAGGGCAAGCCAGTAATAA	0.393																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(277-279)ggC>ggT		cytochrome P450, family 2, subfamily J, polypeptide 2							94.0	95.0	95.0					1																	60381704		2203	4300	6503	SO:0001819	synonymous_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60381704G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.279C>T	1.37:g.60381704G>A							p.G93G	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			2	322	-	all_cancers(7;0.000396)		93					B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	37	c.279C>T	CCDS613.1																																																																																				0.393	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		8	155	0	0	0	1	0	8	155				
KIAA1549L	25758	broad.mit.edu	37	11	33612861	33612861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:33612861G>A	ENST00000321505.4	+	11	3934	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1258K|KIAA1549L_ENST00000265654.5_Intron			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1252						integral component of membrane (GO:0016021)											TGTGACTCAGGAGACAGTGGT	0.532																																						ENST00000321505.4																			0											c.(3754-3756)Gag>Aag		KIAA1549-like							57.0	60.0	59.0					11																	33612861		2011	4167	6178	SO:0001583	missense	25758							g.chr11:33612861G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3754G>A	11.37:g.33612861G>A	ENSP00000315295:p.Glu1252Lys					KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1258K	p.E1252K							11	3934	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3754G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	36	5.677806	0.96764	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.6	5.6	0.85130	.	0.151930	0.64402	D	0.000018	D	0.82728	0.5100	M	0.76328	2.33	0.50039	D	0.999843	D	0.89917	1.0	D	0.87578	0.998	D	0.84082	0.0385	9	0.87932	D	0	-16.3969	19.6229	0.95667	0.0:0.0:1.0:0.0	.	1258	E9PAT2	.	K	1252;1258;1091	.	ENSP00000315295:E1252K	E	+	1	0	C11orf41	33569437	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.476000	0.97823	2.648000	0.89879	0.561000	0.74099	GAG		0.532	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		6	58	0	0	0	1	0	6	58				
MDC1	9656	broad.mit.edu	37	6	30672641	30672641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30672641G>A	ENST00000376406.3	-	10	4966	c.4319C>T	c.(4318-4320)tCc>tTc	p.S1440F	MDC1_ENST00000376405.2_Missense_Mutation_p.S1176F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1440	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTCACAGAGGACCTATTTGT	0.597								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4318-4320)tCc>tTc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							107.0	113.0	111.0					6																	30672641		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672641G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4319C>T	6.37:g.30672641G>A	ENSP00000365588:p.Ser1440Phe					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1176F	p.S1440F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	4966	-			1440			Interaction with the PRKDC complex.|Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4319C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968213	0.34754	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.08102	3.13;3.13	4.46	4.46	0.54185	.	0.245864	0.21404	N	0.075087	T	0.08935	0.0221	M	0.74881	2.28	0.09310	N	1	P;B	0.34629	0.46;0.042	B;B	0.42692	0.395;0.049	T	0.02385	-1.1167	10	0.54805	T	0.06	-6.7931	12.8561	0.57886	0.0:0.0:1.0:0.0	.	1176;1440	Q14676-2;Q14676	.;MDC1_HUMAN	F	1440;1176;1153;1006	ENSP00000365588:S1440F;ENSP00000365587:S1176F	ENSP00000365587:S1176F	S	-	2	0	MDC1	30780620	0.261000	0.24063	0.326000	0.25389	0.105000	0.19272	4.348000	0.59379	2.492000	0.84095	0.449000	0.29647	TCC		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		11	226	0	0	0	1	0	11	226				
GTF2A1L	11036	broad.mit.edu	37	2	48896892	48896892	+	Missense_Mutation	SNP	G	G	A	rs199722656		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:48896892G>A	ENST00000403751.3	+	7	1047	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R1041Q|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041Q	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	337					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1041Q(1)|p.R1041L(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTAAGCATTCGGGTTACTGAT	0.308																																						ENST00000394754.1																			2	Substitution - Missense(2)	p.R1041Q(1)|p.R1041L(1)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(3121-3123)cGg>cAg									105.0	115.0	112.0					2																	48896892		2202	4300	6502	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48896892G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1010G>A	2.37:g.48896892G>A	ENSP00000384597:p.Arg337Gln					GTF2A1L_ENST00000403751.3_Missense_Mutation_p.R337Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041Q|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303Q	p.R1041Q	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	3236	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	994					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3122G>A	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.515730	0.00975	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T	0.08458	3.09;3.13;3.09;3.09;3.3	4.94	-0.953	0.10362	.	0.932479	0.08994	N	0.863947	T	0.01800	0.0057	N	0.00525	-1.395	0.35773	D	0.821091	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.002;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.0;0.002;0.001	T	0.49826	-0.8898	10	0.07030	T	0.85	.	5.4866	0.16753	0.6296:0.1359:0.2345:0.0	.	303;994;1041;337;1041	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	Q	1041;1041;1041;1041;994;336;303;337	ENSP00000385499:R1041Q;ENSP00000385701:R1041Q;ENSP00000378236:R1041Q;ENSP00000311493:R1041Q;ENSP00000378234:R994Q	ENSP00000384597:R337Q	R	+	2	0	STON1-GTF2A1L;GTF2A1L	48750396	0.015000	0.18098	0.064000	0.19789	0.055000	0.15305	0.363000	0.20301	-0.228000	0.09869	-0.459000	0.05422	CGG		0.308	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		9	190	0	0	0	1	0	9	190				
VSTM2L	128434	broad.mit.edu	37	20	36560169	36560169	+	Missense_Mutation	SNP	G	G	A	rs368151151		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:36560169G>A	ENST00000373461.4	+	2	501	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.R85Q	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	85	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CGGAGCCACCGGGACTGGACC	0.672																																						ENST00000373461.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8						c.(253-255)cGg>cAg		V-set and transmembrane domain containing 2 like		G	GLN/ARG	0,4406		0,0,2203	75.0	63.0	67.0		254	3.7	1.0	20		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	VSTM2L	NM_080607.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	85/205	36560169	1,13005	2203	4300	6503	SO:0001583	missense	128434							g.chr20:36560169G>A	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.254G>A	20.37:g.36560169G>A	ENSP00000362560:p.Arg85Gln					VSTM2L_ENST00000373458.3_Missense_Mutation_p.R85Q|VSTM2L_ENST00000373459.4_Intron	p.R85Q	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN			2	501	+		Myeloproliferative disorder(115;0.00878)	85			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.254G>A	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871354	0.51695	0.0	1.16E-4	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.64803	-0.12;0.97;-0.12	4.66	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.316966	0.31450	N	0.007633	T	0.44912	0.1316	L	0.46741	1.465	0.36175	D	0.84906	P	0.36199	0.543	B	0.23419	0.046	T	0.50816	-0.8783	10	0.15499	T	0.54	-37.5201	9.7718	0.40593	0.1592:0.0:0.8408:0.0	.	85	Q96N03	VTM2L_HUMAN	Q	85	ENSP00000362557:R85Q;ENSP00000362560:R85Q;ENSP00000406537:R85Q	ENSP00000362557:R85Q	R	+	2	0	VSTM2L	35993583	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.789000	0.38724	2.294000	0.77228	0.484000	0.47621	CGG		0.672	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			6	79	0	0	0	1	0	6	79				
GPATCH8	23131	broad.mit.edu	37	17	42475680	42475680	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42475680G>A	ENST00000591680.1	-	8	3795	c.3765C>T	c.(3763-3765)tcC>tcT	p.S1255S	GPATCH8_ENST00000434000.1_Silent_p.S1177S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1255							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCTATCCAGGGACTCCAGGG	0.597																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3529-3531)tcC>tcT		G patch domain containing 8							127.0	126.0	126.0					17																	42475680		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475680G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3765C>T	17.37:g.42475680G>A						GPATCH8_ENST00000591680.1_Silent_p.S1255S	p.S1177S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3813	-		Prostate(33;0.0181)	1255					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.3531C>T	CCDS32666.1																																																																																				0.597	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		13	278	0	0	0	1	0	13	278				
RFPL1	5988	broad.mit.edu	37	22	29837704	29837704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:29837704G>A	ENST00000354373.2	+	2	756	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	183	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCACTACTGGGAGGTGGACGT	0.562																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(547-549)Gag>Aag		ret finger protein-like 1							86.0	84.0	85.0					22																	29837704		2203	4298	6501	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837704G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.547G>A	22.37:g.29837704G>A	ENSP00000346342:p.Glu183Lys					RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	p.E183K	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	756	+			183			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.547G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052482	0.75960	.	.	ENSG00000128250	ENST00000354373	T	0.77620	-1.11	0.911	0.911	0.19343	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.91412	0.7290	H	0.98951	4.38	0.28244	N	0.925568	D	0.89917	1.0	D	0.97110	1.0	T	0.81464	-0.0921	9	0.87932	D	0	.	7.689	0.28557	0.0:0.0:1.0:0.0	.	183	O75677	RFPL1_HUMAN	K	183	ENSP00000346342:E183K	ENSP00000346342:E183K	E	+	1	0	RFPL1	28167704	1.000000	0.71417	0.033000	0.17914	0.461000	0.32589	4.581000	0.60949	0.793000	0.33875	0.184000	0.17185	GAG		0.562	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		7	142	0	0	0	1	0	7	142				
UPF1	5976	broad.mit.edu	37	19	18967057	18967057	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18967057A>G	ENST00000599848.1	+	13	2014	c.1805A>G	c.(1804-1806)gAc>gGc	p.D602G	UPF1_ENST00000262803.5_Missense_Mutation_p.D591G			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	602					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCGTCTGCCGACGAGAAGCGG	0.627																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1771-1773)gAc>gGc		UPF1 regulator of nonsense transcripts homolog (yeast)							53.0	53.0	53.0					19																	18967057		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18967057A>G	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1805A>G	19.37:g.18967057A>G	ENSP00000470142:p.Asp602Gly					UPF1_ENST00000599848.1_Missense_Mutation_p.D602G	p.D591G	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			13	2044	+			602					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1772A>G		.	.	.	.	.	.	.	.	.	.	A	19.65	3.866479	0.72065	.	.	ENSG00000005007	ENST00000262803	D	0.81996	-1.56	4.29	4.29	0.51040	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.88105	2.93	0.80722	D	1	P;D	0.59767	0.928;0.986	P;P	0.58130	0.833;0.815	D	0.92033	0.5635	10	0.87932	D	0	-36.4038	12.9045	0.58143	1.0:0.0:0.0:0.0	.	602;591	Q92900;Q92900-2	RENT1_HUMAN;.	G	591	ENSP00000262803:D591G	ENSP00000262803:D591G	D	+	2	0	UPF1	18828057	1.000000	0.71417	0.049000	0.19019	0.539000	0.34962	8.642000	0.91036	1.708000	0.51301	0.533000	0.62120	GAC		0.627	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	64	0	0	0	1	0	5	64				
OR5M8	219484	broad.mit.edu	37	11	56258724	56258724	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56258724G>A	ENST00000327216.2	-	1	147	c.123C>T	c.(121-123)aaC>aaT	p.N41N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATGCCAAGGTTCCCTGCCA	0.517																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(121-123)aaC>aaT		olfactory receptor, family 5, subfamily M, member 8							99.0	100.0	99.0					11																	56258724		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258724G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.123C>T	11.37:g.56258724G>A							p.N41N	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	147	-	Esophageal squamous(21;0.00352)		41					B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.123C>T	CCDS31533.1																																																																																				0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		11	184	0	0	0	1	0	11	184				
SORBS2	8470	broad.mit.edu	37	4	186545293	186545293	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:186545293G>A	ENST00000284776.7	-	13	1787	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.Y526Y|SORBS2_ENST00000431808.1_Silent_p.Y426Y|SORBS2_ENST00000418609.1_Silent_p.Y330Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	426					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCTCCGGGACGTAGGGGGACC	0.587																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1276-1278)taC>taT		sorbin and SH3 domain containing 2							65.0	63.0	63.0					4																	186545293		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545293G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1278C>T	4.37:g.186545293G>A						SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Silent_p.Y426Y|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.Y526Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.Y330Y	p.Y426Y			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1841	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	426					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1278C>T	CCDS3845.1																																																																																				0.587	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		10	93	0	0	0	1	0	10	93				
BCAS1	8537	broad.mit.edu	37	20	52561467	52561467	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:52561467G>A	ENST00000395961.3	-	12	1915	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	BCAS1_ENST00000371440.3_Silent_p.S592S|BCAS1_ENST00000371435.2_Silent_p.S505S|AC005220.3_ENST00000450473.1_RNA|BCAS1_ENST00000434986.2_Silent_p.S249S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	583			S -> P (in dbSNP:rs1055246). {ECO:0000269|PubMed:9671742}.			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTTTACTTGGATTTGCCAA	0.488																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1747-1749)tcC>tcT		breast carcinoma amplified sequence 1							354.0	312.0	326.0					20																	52561467		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52561467G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1749C>T	20.37:g.52561467G>A						BCAS1_ENST00000434986.2_Silent_p.S249S|BCAS1_ENST00000371440.3_Silent_p.S592S|BCAS1_ENST00000371435.2_Silent_p.S505S	p.S583S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		12	1915	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		583		S -> P (in dbSNP:rs1055246).			A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.1749C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116349	0.37339	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.21	4.05	0.47172	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59799	-0.7386	4	.	.	.	-20.8725	11.93	0.52841	0.0973:0.0:0.9027:0.0	.	.	.	.	L	246	.	.	P	-	2	0	BCAS1	51994874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.330000	0.59266	2.423000	0.82170	0.561000	0.74099	CCA		0.488	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		10	212	0	0	0	1	0	10	212				
ACADSB	36	broad.mit.edu	37	10	124797304	124797304	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:124797304A>G	ENST00000358776.4	+	3	258	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	82					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTTGGTTTCAACCATGGATGA	0.303																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(244-246)Acc>Gcc		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						86.0	98.0	94.0					10																	124797304		2203	4296	6499	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124797304A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.244A>G	10.37:g.124797304A>G	ENSP00000357873:p.Thr82Ala					ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	p.T82A	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	3	258	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	82					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.244A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172860	0.38413	.	.	ENSG00000196177	ENST00000358776	D	0.99671	-6.35	5.93	3.23	0.37069	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.354127	0.31577	N	0.007406	D	0.96821	0.8962	N	0.04787	-0.16	0.28846	N	0.896347	B	0.02656	0.0	B	0.04013	0.001	D	0.95302	0.8404	10	0.59425	D	0.04	.	8.85	0.35194	0.812:0.0:0.0709:0.1171	.	82	P45954	ACDSB_HUMAN	A	82	ENSP00000357873:T82A	ENSP00000357873:T82A	T	+	1	0	ACADSB	124787294	0.739000	0.28196	0.955000	0.39395	0.997000	0.91878	3.575000	0.53870	1.022000	0.39626	0.533000	0.62120	ACC		0.303	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		10	137	0	0	0	1	0	10	137				
SLC38A4	55089	broad.mit.edu	37	12	47170741	47170741	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:47170741C>T	ENST00000447411.1	-	12	1326	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G374R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	374					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCATCCCCGTGATGGAA	0.403																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1120-1122)Ggg>Agg		solute carrier family 38, member 4							128.0	126.0	127.0					12																	47170741		2203	4299	6502	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47170741C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1120G>A	12.37:g.47170741C>T	ENSP00000389843:p.Gly374Arg					SLC38A4_ENST00000266579.4_Missense_Mutation_p.G374R	p.G374R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			12	1326	-	Lung SC(27;0.192)|Renal(347;0.236)		374					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1120G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639401	0.87760	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02258	4.37;4.37	5.96	5.96	0.96718	.	0.289012	0.39909	N	0.001237	T	0.09291	0.0229	L	0.46157	1.445	0.48632	D	0.999683	D	0.53619	0.961	P	0.60473	0.875	T	0.00852	-1.1540	10	0.66056	D	0.02	-11.0576	20.3955	0.98984	0.0:1.0:0.0:0.0	.	374	Q969I6	S38A4_HUMAN	R	374	ENSP00000389843:G374R;ENSP00000266579:G374R	ENSP00000266579:G374R	G	-	1	0	SLC38A4	45457008	0.995000	0.38212	0.988000	0.46212	0.988000	0.76386	3.312000	0.51927	2.830000	0.97506	0.655000	0.94253	GGG		0.403	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			9	137	0	0	0	1	0	9	137				
APLP1	333	broad.mit.edu	37	19	36369999	36369999	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:36369999C>T	ENST00000221891.4	+	16	1929	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000537454.2_Silent_p.S539S|APLP1_ENST00000586861.1_Silent_p.S572S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	578					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)			CAGGGGTGTCCCGTGAGGCTG	0.642																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1735-1737)tcC>tcT		amyloid beta (A4) precursor-like protein 1							46.0	48.0	47.0					19																	36369999		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:36369999C>T	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.1737C>T	19.37:g.36369999C>T						APLP1_ENST00000537454.2_Silent_p.S539S|APLP1_ENST00000586861.1_Silent_p.S572S	p.S579S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	1929	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		578					O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	c.1737C>T	CCDS32997.1																																																																																				0.642	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		7	64	0	0	0	1	0	7	64				
ATP7A	538	broad.mit.edu	37	X	77286940	77286940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:77286940G>A	ENST00000341514.6	+	16	3309	c.3154G>A	c.(3154-3156)Gga>Aga	p.G1052R	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974R|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55R	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CATTACTCACGGAACCCCAGT	0.378																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3154-3156)Gga>Aga		ATPase, Cu++ transporting, alpha polypeptide							130.0	126.0	127.0					X																	77286940		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77286940G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3154G>A	X.37:g.77286940G>A	ENSP00000345728:p.Gly1052Arg					ATP7A_ENST00000343533.5_Missense_Mutation_p.G974R|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55R	p.G1052R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			16	3309	+			1052					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3154G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796536	0.90453	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97553	-4.43;-4.43;-4.43	5.39	5.39	0.77823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	10	0.87932	D	0	0.0882	18.0914	0.89476	0.0:0.0:1.0:0.0	.	1052	Q04656	ATP7A_HUMAN	R	974;55;1052	ENSP00000343026:G974R;ENSP00000343678:G55R;ENSP00000345728:G1052R	ENSP00000345728:G1052R	G	+	1	0	ATP7A	77173596	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.395000	0.81488	0.506000	0.49869	GGA		0.378	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		6	110	0	0	0	1	0	6	110				
PCSK2	5126	broad.mit.edu	37	20	17446183	17446183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:17446183C>T	ENST00000262545.2	+	11	1730	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	PCSK2_ENST00000377899.1_Missense_Mutation_p.S453F|PCSK2_ENST00000536609.1_Missense_Mutation_p.S437F|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGGGAGGCTCCGTGCAGGAC	0.537																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1414-1416)tCc>tTc		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						54.0	52.0	53.0					20																	17446183		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446183C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1415C>T	20.37:g.17446183C>T	ENSP00000262545:p.Ser472Phe					PCSK2_ENST00000536609.1_Missense_Mutation_p.S437F|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.S453F	p.S472F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1730	+			472					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1415C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747539	0.30955	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.72835	-0.48;-0.49;-0.69	5.68	3.75	0.43078	Galactose-binding domain-like (1);	0.214383	0.50627	D	0.000106	T	0.72095	0.3418	M	0.73598	2.24	0.58432	D	0.99999	B;B;B	0.32101	0.228;0.356;0.252	B;B;B	0.37780	0.258;0.187;0.197	T	0.72603	-0.4243	10	0.87932	D	0	-16.7854	11.2771	0.49174	0.0:0.8508:0.0:0.1492	.	437;453;472	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	F	453;472;437	ENSP00000367131:S453F;ENSP00000262545:S472F;ENSP00000437458:S437F	ENSP00000262545:S472F	S	+	2	0	PCSK2	17394183	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.476000	0.81055	0.766000	0.33244	0.555000	0.69702	TCC		0.537	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		8	31	0	0	0	1	0	8	31				
ARHGEF40	55701	broad.mit.edu	37	14	21549761	21549761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:21549761C>T	ENST00000298694.4	+	14	2861	c.2734C>T	c.(2734-2736)Cca>Tca	p.P912S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P912S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	912						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCGGCGGGCCCCAGAGCCCAG	0.716																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2734-2736)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 40							16.0	20.0	18.0					14																	21549761		2156	4273	6429	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21549761C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2734C>T	14.37:g.21549761C>T	ENSP00000298694:p.Pro912Ser					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P912S	p.P912S			Q8TER5	ARH40_HUMAN			14	2861	+			912					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2734C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801859	0.31869	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02606	4.28;4.23	5.76	4.86	0.63082	.	0.000000	0.56097	D	0.000039	T	0.02342	0.0072	L	0.29908	0.895	0.33659	D	0.60942	B;P	0.34864	0.211;0.473	B;B	0.28553	0.066;0.091	T	0.45614	-0.9249	10	0.13470	T	0.59	.	12.144	0.54014	0.1714:0.8286:0.0:0.0	.	912;912	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	S	912	ENSP00000298694:P912S;ENSP00000298693:P912S	ENSP00000298693:P912S	P	+	1	0	ARHGEF40	20619601	0.113000	0.22115	0.996000	0.52242	0.010000	0.07245	0.694000	0.25512	1.415000	0.47037	-0.181000	0.13052	CCA		0.716	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			6	54	0	0	0	1	0	6	54				
SYT16	83851	broad.mit.edu	37	14	62536341	62536341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:62536341G>A	ENST00000430451.2	+	2	741	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E182K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	182					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGGGATGACGAAGAGCTGTC	0.478																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(544-546)Gaa>Aaa		synaptotagmin XVI							154.0	143.0	146.0					14																	62536341		1956	4139	6095	SO:0001583	missense	83851							g.chr14:62536341G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.544G>A	14.37:g.62536341G>A	ENSP00000394700:p.Glu182Lys					SYT16_ENST00000446982.2_Missense_Mutation_p.E182K|RP11-355I22.5_ENST00000553990.1_lincRNA	p.E182K	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	741	+			182					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.544G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179784	0.78564	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.36340	1.26;3.59	4.91	4.91	0.64330	.	0.281779	0.33670	N	0.004667	T	0.52565	0.1742	L	0.53249	1.67	0.50813	D	0.999893	D;B	0.76494	0.999;0.041	P;B	0.59288	0.855;0.01	T	0.54153	-0.8336	10	0.66056	D	0.02	-6.011	18.2612	0.90037	0.0:0.0:1.0:0.0	.	182;182	B4DZH2;Q17RD7	.;SYT16_HUMAN	K	182	ENSP00000388023:E182K;ENSP00000394700:E182K	ENSP00000394700:E182K	E	+	1	0	SYT16	61606094	1.000000	0.71417	0.997000	0.53966	0.596000	0.36781	5.024000	0.64090	2.707000	0.92482	0.655000	0.94253	GAA		0.478	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		11	139	0	0	0	1	0	11	139				
PREX2	80243	broad.mit.edu	37	8	69058492	69058492	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:69058492T>A	ENST00000288368.4	+	34	4413	c.4136T>A	c.(4135-4137)gTt>gAt	p.V1379D		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1379					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCTCTGAAAGTTTACTTCTAC	0.328																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4135-4137)gTt>gAt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							100.0	98.0	99.0					8																	69058492		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69058492T>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4136T>A	8.37:g.69058492T>A	ENSP00000288368:p.Val1379Asp						p.V1379D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			34	4413	+			1379					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4136T>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905344	0.92035	.	.	ENSG00000046889	ENST00000288368	T	0.68331	-0.32	5.62	5.62	0.85841	.	0.065727	0.64402	D	0.000011	T	0.79305	0.4423	M	0.71036	2.16	0.80722	D	1	P	0.50369	0.934	P	0.59825	0.864	T	0.81680	-0.0823	10	0.87932	D	0	.	16.1177	0.81321	0.0:0.0:0.0:1.0	.	1379	Q70Z35	PREX2_HUMAN	D	1379	ENSP00000288368:V1379D	ENSP00000288368:V1379D	V	+	2	0	PREX2	69221046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.431000	0.80335	2.267000	0.75376	0.528000	0.53228	GTT		0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		12	84	0	0	0	1	0	12	84				
UNC13C	440279	broad.mit.edu	37	15	54586115	54586115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:54586115C>T	ENST00000260323.11	+	10	3841	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R1281*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1281	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCACAGATCGAATCAAAGT	0.323																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3841-3843)Cga>Tga		unc-13 homolog C (C. elegans)							112.0	110.0	111.0					15																	54586115		1902	4120	6022	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586115C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3841C>T	15.37:g.54586115C>T	ENSP00000260323:p.Arg1281*					UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1281*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279*	p.R1281*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3841	+			1281			C2 1.		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.3841C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	44	10.765609	0.99463	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	6.01	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9575	0.58438	0.4567:0.5433:0.0:0.0	.	.	.	.	X	1281;1281;1279	.	ENSP00000260323:R1281X	R	+	1	2	UNC13C	52373407	0.942000	0.31987	0.999000	0.59377	0.999000	0.98932	2.065000	0.41442	1.469000	0.48083	0.650000	0.86243	CGA		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		4	73	0	0	0	1	0	4	73				
SYT10	341359	broad.mit.edu	37	12	33579231	33579231	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:33579231C>T	ENST00000228567.3	-	2	647	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	117					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCATTTTCCTTAATTTCTT	0.413																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(349-351)aaG>aaA		synaptotagmin X							124.0	125.0	125.0					12																	33579231		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579231C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.351G>A	12.37:g.33579231C>T						SYT10_ENST00000535526.1_5'UTR	p.K117K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	647	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		117					Q495U2	Silent	SNP	ENST00000228567.3	37	c.351G>A	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		8	175	0	0	0	1	0	8	175				
LYPLA1	10434	broad.mit.edu	37	8	54978369	54978369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:54978369C>T	ENST00000316963.3	-	3	299	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R|LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000522007.1_Intron	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	36					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.G36R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCTGCCCATCCGTGCCTGGTG	0.383																																						ENST00000316963.3																			1	Substitution - Missense(1)	p.G36R(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(106-108)Gga>Aga		lysophospholipase I							81.0	78.0	79.0					8																	54978369		2203	4300	6503	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54978369C>T	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.106G>A	8.37:g.54978369C>T	ENSP00000320043:p.Gly36Arg					LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R	p.G36R	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		3	299	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	36					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.106G>A	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483894	0.84854	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000518546;ENST00000519926;ENST00000517297	T;T;T	0.24151	1.87;1.87;1.87	5.81	5.81	0.92471	Phospholipase/carboxylesterase/thioesterase (1);	0.049902	0.85682	D	0.000000	T	0.51702	0.1690	M	0.76002	2.32	0.80722	D	1	P;P;D	0.89917	0.939;0.953;1.0	P;P;D	0.67725	0.638;0.468;0.953	T	0.52426	-0.8577	10	0.87932	D	0	1.7784	16.9993	0.86377	0.0:1.0:0.0:0.0	.	36;36;36	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	R	36	ENSP00000320043:G36R;ENSP00000344477:G36R;ENSP00000428729:G36R	ENSP00000320043:G36R	G	-	1	0	LYPLA1	55140922	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	3.788000	0.55446	2.746000	0.94184	0.655000	0.94253	GGA		0.383	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			7	52	0	0	0	1	0	7	52				
CENPT	80152	broad.mit.edu	37	16	67866389	67866389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:67866389G>T	ENST00000562787.1	-	5	718	c.170C>A	c.(169-171)aCg>aAg	p.T57K	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Missense_Mutation_p.T57K|CENPT_ENST00000564817.1_Missense_Mutation_p.T57K|CENPT_ENST00000440851.2_Missense_Mutation_p.T57K|CENPT_ENST00000445712.2_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	57					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCTGGCTATCGTCCTTGTTTG	0.597																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(169-171)aCg>aAg		centromere protein T							74.0	79.0	77.0					16																	67866389		1964	4132	6096	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67866389G>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.170C>A	16.37:g.67866389G>T	ENSP00000457810:p.Thr57Lys					CENPT_ENST00000219172.3_Missense_Mutation_p.T57K|CENPT_ENST00000440851.2_Missense_Mutation_p.T57K|CENPT_ENST00000445712.2_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.T57K	p.T57K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	5	718	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	57					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.170C>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	3.760	-0.049726	0.07407	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	T;T	0.46063	0.88;0.88	4.57	-3.8	0.04307	.	1.190100	0.06030	N	0.652976	T	0.33614	0.0869	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.30281	0.275;0.275	B;B	0.31614	0.133;0.133	T	0.33777	-0.9855	10	0.29301	T	0.29	2.2223	10.5134	0.44874	0.618:0.0:0.382:0.0	.	57;57	Q96BT3;B3KPB2	CENPT_HUMAN;.	K	57	ENSP00000400140:T57K;ENSP00000219172:T57K	ENSP00000219172:T57K	T	-	2	0	CENPT	66423890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.606000	0.02072	-0.668000	0.05296	-0.880000	0.02959	ACG		0.597	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		7	60	1	0	2.0095e-06	1	2.04059e-06	7	60				
DYNC1H1	1778	broad.mit.edu	37	14	102482715	102482715	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:102482715C>T	ENST00000360184.4	+	37	7667	c.7503C>T	c.(7501-7503)tcC>tcT	p.S2501S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2501					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTCTGGTCCCTGTCTGGAG	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7501-7503)tcC>tcT		dynein, cytoplasmic 1, heavy chain 1							60.0	60.0	60.0					14																	102482715		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482715C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7503C>T	14.37:g.102482715C>T							p.S2501S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7667	+			2501					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7503C>T	CCDS9966.1																																																																																				0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	70	0	0	0	1	0	5	70				
RASA2	5922	broad.mit.edu	37	3	141290312	141290312	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:141290312T>A	ENST00000452898.1	+	11	1120	c.1085T>A	c.(1084-1086)tTg>tAg	p.L362*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.L362*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	362	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GATGCTGTTTTGCCCCTTGTA	0.388																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1084-1086)tTg>tAg		RAS p21 protein activator 2							228.0	216.0	220.0					3																	141290312		2203	4300	6503	SO:0001587	stop_gained	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141290312T>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1085T>A	3.37:g.141290312T>A	ENSP00000391677:p.Leu362*					RASA2_ENST00000452898.1_Nonsense_Mutation_p.L362*	p.L362*			Q15283	RASA2_HUMAN			11	1120	+			362			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	ENST00000452898.1	37	c.1085T>A		.	.	.	.	.	.	.	.	.	.	T	36	5.951347	0.97139	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.53	4.35	0.52113	.	0.160287	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.5167	0.56036	0.0:0.0:0.1396:0.8604	.	.	.	.	X	362	.	ENSP00000286364:L362X	L	+	2	0	RASA2	142773002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.393000	0.79851	0.891000	0.36235	0.454000	0.30748	TTG		0.388	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		20	268	0	0	0	1	0	20	268				
NCDN	23154	broad.mit.edu	37	1	36026201	36026201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:36026201C>T	ENST00000373243.2	+	3	832	c.449C>T	c.(448-450)tCc>tTc	p.S150F	NCDN_ENST00000373253.3_Missense_Mutation_p.S133F|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.S150F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	150					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCCGCCGCTCCATGATTGAT	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(448-450)tCc>tTc		neurochondrin							83.0	88.0	86.0					1																	36026201		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026201C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.449C>T	1.37:g.36026201C>T	ENSP00000362340:p.Ser150Phe					NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.S133F|NCDN_ENST00000356090.4_Missense_Mutation_p.S150F	p.S150F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	832	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	150					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.449C>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999094	0.74818	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.69306	-0.39;-0.39;-0.39	5.51	5.51	0.81932	.	0.116516	0.64402	D	0.000013	T	0.77691	0.4168	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.75085	-0.3442	10	0.36615	T	0.2	.	18.3917	0.90485	0.0:1.0:0.0:0.0	.	150	Q9UBB6	NCDN_HUMAN	F	133;150;150;133	ENSP00000362350:S133F;ENSP00000348394:S150F;ENSP00000362340:S150F	ENSP00000348394:S150F	S	+	2	0	NCDN	35798788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.985000	0.70556	2.586000	0.87340	0.561000	0.74099	TCC		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		11	201	0	0	0	1	0	11	201				
EP300	2033	broad.mit.edu	37	22	41568555	41568555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:41568555C>T	ENST00000263253.7	+	28	5724	c.4505C>T	c.(4504-4506)cCt>cTt	p.P1502L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1502	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGGAATTGCCTTATTTCGAG	0.368			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4504-4506)cCt>cTt		E1A binding protein p300							103.0	98.0	99.0					22																	41568555		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41568555C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4505C>T	22.37:g.41568555C>T	ENSP00000263253:p.Pro1502Leu					RP1-85F18.6_ENST00000415054.1_RNA	p.P1502L	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			28	5724	+			1502					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4505C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651353	0.88056	.	.	ENSG00000100393	ENST00000263253	D	0.98493	-4.96	5.96	5.96	0.96718	.	0.000000	0.48286	D	0.000184	D	0.99306	0.9757	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98988	1.0807	10	0.87932	D	0	-9.0179	20.422	0.99049	0.0:1.0:0.0:0.0	.	1502	Q09472	EP300_HUMAN	L	1502	ENSP00000263253:P1502L	ENSP00000263253:P1502L	P	+	2	0	EP300	39898501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.734000	0.84928	2.832000	0.97577	0.655000	0.94253	CCT		0.368	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		10	58	0	0	0	1	0	10	58				
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T	rs267606517		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:78010772C>T	ENST00000435339.3	+	2	792	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(406-408)Cgt>Tgt		lysophosphatidic acid receptor 4							234.0	167.0	189.0					X																	78010772		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010772C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.406C>T	X.37:g.78010772C>T	ENSP00000408205:p.Arg136Cys					LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	811	+			136					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.406C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669444	0.67814	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	D;D	0.97186	-4.28;-4.28	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98982	0.9653	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99204	1.0874	10	0.87932	D	0	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	136	Q99677	LPAR4_HUMAN	C	136	ENSP00000408205:R136C;ENSP00000362398:R136C	ENSP00000362398:R136C	R	+	1	0	LPAR4	77897428	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.512000	0.67030	1.943000	0.56356	0.422000	0.28245	CGT		0.483	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		8	95	0	0	0	1	0	8	95				
LCT	3938	broad.mit.edu	37	2	136566587	136566587	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:136566587C>T	ENST00000264162.2	-	8	3340	c.3330G>A	c.(3328-3330)gaG>gaA	p.E1110E	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1110	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCCTGTATTTCTCATCGTACG	0.587																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3328-3330)gaG>gaA		lactase							71.0	75.0	74.0					2																	136566587		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566587C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3330G>A	2.37:g.136566587C>T							p.E1110E	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3340	-			1110			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3330G>A	CCDS2178.1																																																																																				0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		9	110	0	0	0	1	0	9	110				
GALNT16	57452	broad.mit.edu	37	14	69799831	69799831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:69799831G>A	ENST00000337827.4	+	8	1135	c.808G>A	c.(808-810)Gag>Aag	p.E270K	GALNT16_ENST00000553669.1_Missense_Mutation_p.E270K|GALNT16_ENST00000448469.3_Missense_Mutation_p.E270K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	270					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TTTCAAGTGGGAGCAGATCCC	0.617																																						ENST00000337827.4																			0											c.(808-810)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							73.0	70.0	71.0					14																	69799831		2203	4300	6503	SO:0001583	missense	57452							g.chr14:69799831G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.808G>A	14.37:g.69799831G>A	ENSP00000336729:p.Glu270Lys					GALNT16_ENST00000448469.3_Missense_Mutation_p.E270K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E270K	p.E270K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					8	1135	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.808G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	36	5.971909	0.97162	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.58940	0.3;0.3;0.3	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	L	0.56124	1.755	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72625	0.965;0.978	T	0.71404	-0.4603	10	0.48119	T	0.1	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	270;270	Q8N428;Q58A55	GLTL1_HUMAN;.	K	270	ENSP00000336729:E270K;ENSP00000402970:E270K;ENSP00000451200:E270K	ENSP00000336729:E270K	E	+	1	0	GALNTL1	68869584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.615000	0.98356	2.755000	0.94549	0.591000	0.81541	GAG		0.617	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	77	0	0	0	1	0	5	77				
PNLDC1	154197	broad.mit.edu	37	6	160232744	160232744	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:160232744C>A	ENST00000610273.1	+	11	1003	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289K	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGCTACGATCAATTTAAGCA	0.403																																						ENST00000275275.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(832-834)Caa>Aaa		poly(A)-specific ribonuclease (PARN)-like domain containing 1							116.0	114.0	114.0					6																	160232744		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160232744C>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.832C>A	6.37:g.160232744C>A	ENSP00000476448:p.Gln278Lys					PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289K	p.Q278K	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	11	1003	+		Breast(66;0.00519)|Ovarian(120;0.123)	278					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.832C>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490465	0.26686	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.21031	2.03;2.03	5.61	3.79	0.43588	Ribonuclease H-like (1);	0.314931	0.27336	N	0.019823	T	0.08891	0.0220	L	0.42245	1.32	0.09310	N	1	B;B	0.24368	0.102;0.101	B;B	0.28232	0.03;0.087	T	0.19128	-1.0315	10	0.37606	T	0.19	.	14.3507	0.66699	0.0:0.502:0.498:0.0	.	289;278	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	K	278;289	ENSP00000275275:Q278K;ENSP00000376007:Q289K	ENSP00000275275:Q278K	Q	+	1	0	PNLDC1	160152734	0.308000	0.24509	0.028000	0.17463	0.877000	0.50540	0.977000	0.29475	0.702000	0.31825	0.655000	0.94253	CAA		0.403	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		7	90	1	0	5.4927e-09	1	5.61718e-09	7	90				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652382	45652382	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:45652382G>A	ENST00000427229.2	+	0	1896																											GCAACATCTGGAAAGTTTGAA	0.433																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652382G>A																													10.37:g.45652382G>A														0	1896	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.433	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			4	38	0	0	0	1	0	4	38				
SVEP1	79987	broad.mit.edu	37	9	113265469	113265469	+	Silent	SNP	C	C	T	rs370267821		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:113265469C>T	ENST00000401783.2	-	6	1668	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	SVEP1_ENST00000302728.8_Silent_p.P444P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.P421P|SVEP1_ENST00000374461.1_Silent_p.P421P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	444	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCCATGTTTCGGCTGGCGGA	0.368																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1330-1332)ccG>ccA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							137.0	135.0	135.0					9																	113265469		1966	4150	6116	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265469C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1332G>A	9.37:g.113265469C>T						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.P444P|SVEP1_ENST00000374461.1_Silent_p.P421P|SVEP1_ENST00000374469.1_Silent_p.P421P	p.P444P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			6	1668	-			444			Sushi 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.1332G>A	CCDS48004.1																																																																																				0.368	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	144	0	0	0	1	0	14	144				
RGAG1	57529	broad.mit.edu	37	X	109696197	109696197	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:109696197C>T	ENST00000465301.2	+	3	2598	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	RGAG1_ENST00000540313.1_Silent_p.L784L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	784										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCACTGCTCACAAGAGCTT	0.532																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2350-2352)ctC>ctT		retrotransposon gag domain containing 1							97.0	93.0	95.0					X																	109696197		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109696197C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2352C>T	X.37:g.109696197C>T						RGAG1_ENST00000540313.1_Silent_p.L784L	p.L784L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2598	+			784					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.2352C>T	CCDS14552.1																																																																																				0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	79	0	0	0	1	0	6	79				
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:196729521G>T	ENST00000312428.6	-	41	6958	c.6858C>A	c.(6856-6858)atC>atA	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6856-6858)atC>atA		dynein, axonemal, heavy chain 7							210.0	198.0	202.0					2																	196729521		1896	4119	6015	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729521G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6858C>A	2.37:g.196729521G>T							p.I2286I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6958	-			2286					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.6858C>A	CCDS42794.1																																																																																				0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		15	245	1	0	1.3612e-06	1	1.38421e-06	15	245				
ABCA10	10349	broad.mit.edu	37	17	67151948	67151948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:67151948C>T	ENST00000269081.4	-	30	4483	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1192					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGTTCACCTCCTCCAAGTTT	0.413																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3574-3576)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 10							159.0	148.0	151.0					17																	67151948		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67151948C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3574G>A	17.37:g.67151948C>T	ENSP00000269081:p.Glu1192Lys					ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	p.E1192K	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			30	4483	-	Breast(10;6.95e-12)		1192					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3574G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089564	0.76756	.	.	ENSG00000154263	ENST00000269081	D	0.87887	-2.31	2.85	2.85	0.33270	.	0.000000	0.34110	U	0.004247	D	0.91935	0.7446	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.988;0.994	D	0.92694	0.6169	10	0.66056	D	0.02	.	13.6989	0.62597	0.0:1.0:0.0:0.0	.	184;1192	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	K	1192	ENSP00000269081:E1192K	ENSP00000269081:E1192K	E	-	1	0	ABCA10	64663543	0.998000	0.40836	0.423000	0.26634	0.008000	0.06430	4.037000	0.57311	1.576000	0.49790	0.557000	0.71058	GAG		0.413	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		14	245	0	0	0	1	0	14	245				
HEATR1	55127	broad.mit.edu	37	1	236718728	236718728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:236718728C>T	ENST00000366582.3	-	41	5905	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	HEATR1_ENST00000366581.2_Missense_Mutation_p.D1850N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1931					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACAACCTGTCCTTTGGGGCA	0.413																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5791-5793)Gac>Aac		HEAT repeat containing 1							96.0	95.0	95.0					1																	236718728		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236718728C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5791G>A	1.37:g.236718728C>T	ENSP00000355541:p.Asp1931Asn					HEATR1_ENST00000366581.2_Missense_Mutation_p.D1850N	p.D1931N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		41	5905	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1931					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.5791G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145366	0.94603	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.46063	0.88;0.88	5.3	5.3	0.74995	BP28, C-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049824	0.85682	D	0.000000	T	0.60011	0.2236	L	0.58428	1.81	0.80722	D	1	B;D	0.61080	0.408;0.989	B;P	0.61328	0.335;0.887	T	0.59386	-0.7464	10	0.54805	T	0.06	.	19.1434	0.93455	0.0:1.0:0.0:0.0	.	1850;1931	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	N	1931;1850	ENSP00000355541:D1931N;ENSP00000355540:D1850N	ENSP00000355540:D1850N	D	-	1	0	HEATR1	234785351	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.640000	0.67875	2.756000	0.94617	0.563000	0.77884	GAC		0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		16	154	0	0	0	1	0	16	154				
SLC4A5	57835	broad.mit.edu	37	2	74466495	74466495	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:74466495C>T	ENST00000377634.4	-	21	2685	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.K762K|SLC4A5_ENST00000394019.2_Silent_p.K762K|SLC4A5_ENST00000357822.5_Silent_p.K762K|SLC4A5_ENST00000359484.4_Silent_p.K698K|SLC4A5_ENST00000423644.1_Silent_p.K762K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Silent_p.K698K|SLC4A5_ENST00000346834.4_Silent_p.K762K					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTTGAACTTCTTCAGGGTCA	0.537																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2284-2286)aaG>aaA		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							83.0	82.0	82.0					2																	74466495		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74466495C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2286G>A	2.37:g.74466495C>T						SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.K762K|SLC4A5_ENST00000377632.1_Silent_p.K762K|SLC4A5_ENST00000358683.4_Silent_p.K698K|SLC4A5_ENST00000359484.4_Silent_p.K698K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Silent_p.K762K|SLC4A5_ENST00000357822.5_Silent_p.K762K|SLC4A5_ENST00000423644.1_Silent_p.K762K	p.K762K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			21	2683	-			762						Silent	SNP	ENST00000377634.4	37	c.2286G>A	CCDS1936.1																																																																																				0.537	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			6	74	0	0	0	1	0	6	74				
MEF2C	4208	broad.mit.edu	37	5	88057136	88057136	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:88057136T>A	ENST00000437473.2	-	4	685	c.268A>T	c.(268-270)Aag>Tag	p.K90*	MEF2C_ENST00000340208.5_Nonsense_Mutation_p.K90*|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.K90*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	90					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGGCCCTTCTTTCTCAACGTC	0.453										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(268-270)Aag>Tag		myocyte enhancer factor 2C							92.0	91.0	92.0					5																	88057136		1864	4098	5962	SO:0001587	stop_gained	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88057136T>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.268A>T	5.37:g.88057136T>A	ENSP00000396219:p.Lys90*	HNSCC(66;0.2)				MEF2C_ENST00000340208.5_Nonsense_Mutation_p.K90*|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000437473.2_Nonsense_Mutation_p.K90*	p.K90*			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	4	940	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	90					C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP	ENST00000437473.2	37	c.268A>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	T	41	8.721456	0.98929	.	.	ENSG00000081189	ENST00000340208;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000502983;ENST00000508610;ENST00000502831	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0997	16.3756	0.83387	0.0:0.0:0.0:1.0	.	.	.	.	X	90	.	ENSP00000340874:K90X	K	-	1	0	MEF2C	88092892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.270000	0.75569	0.460000	0.39030	AAG		0.453	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		8	116	0	0	0	1	0	8	116				
ZMAT3	64393	broad.mit.edu	37	3	178742978	178742978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:178742978G>A	ENST00000311417.2	-	6	1438	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AGATCACGTGGAATTCTCTGC	0.423																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(697-699)Cca>Tca		zinc finger, matrin-type 3							71.0	63.0	66.0					3																	178742978		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178742978G>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.697C>T	3.37:g.178742978G>A	ENSP00000311221:p.Pro233Ser					ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232S	p.P233S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		6	1438	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		233						Missense_Mutation	SNP	ENST00000311417.2	37	c.697C>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018812	0.93404	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.49139	0.79;0.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.44065	-0.9352	10	0.07813	T	0.8	-34.0026	19.6182	0.95643	0.0:0.0:1.0:0.0	.	232;233	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	S	233;232	ENSP00000311221:P233S;ENSP00000396506:P232S	ENSP00000311221:P233S	P	-	1	0	ZMAT3	180225672	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.476000	0.97823	2.626000	0.88956	0.650000	0.86243	CCA		0.423	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		10	87	0	0	0	1	0	10	87				
FKBP8	23770	broad.mit.edu	37	19	18648428	18648428	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18648428G>C	ENST00000596558.2	-	6	1034	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V	FKBP8_ENST00000222308.4_Missense_Mutation_p.L309V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Missense_Mutation_p.L150V|FKBP8_ENST00000597960.3_Missense_Mutation_p.L310V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L338V|FKBP8_ENST00000608443.1_Missense_Mutation_p.L310V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	309					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTGCGGAAGAGAGCCTTGATG	0.637																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(928-930)Ctc>Gtc		FK506 binding protein 8, 38kDa							54.0	45.0	48.0					19																	18648428		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648428G>C	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.925C>G	19.37:g.18648428G>C	ENSP00000472302:p.Leu309Val					FKBP8_ENST00000222308.3_Missense_Mutation_p.L310V|FKBP8_ENST00000596558.1_Missense_Mutation_p.L309V|FKBP8_ENST00000544835.2_Missense_Mutation_p.L150V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L338V	p.L310V			Q14318	FKBP8_HUMAN			6	1048	-			309					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.928C>G		.	.	.	.	.	.	.	.	.	.	G	18.17	3.563959	0.65651	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.77750	-1.12;-1.12;-1.12	4.67	3.63	0.41609	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.069388	0.56097	D	0.000021	D	0.89283	0.6671	M	0.93462	3.42	0.58432	D	0.999996	D;D;D;D	0.89917	0.99;0.999;1.0;1.0	P;D;D;D	0.85130	0.908;0.992;0.993;0.997	D	0.89638	0.3860	10	0.87932	D	0	-19.8891	8.5415	0.33395	0.1755:0.0:0.8245:0.0	.	338;253;309;310	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	310;150;338	ENSP00000222308:L310V;ENSP00000441267:L150V;ENSP00000388891:L338V	ENSP00000222308:L310V	L	-	1	0	FKBP8	18509428	1.000000	0.71417	0.783000	0.31826	0.957000	0.61999	5.998000	0.70653	1.199000	0.43173	0.644000	0.83932	CTC		0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		5	39	0	0	0	1	0	5	39				
ZNF701	55762	broad.mit.edu	37	19	53086361	53086361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53086361G>A	ENST00000540331.1	+	5	1472	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416E|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350E|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTCACACTGGAGAGAAACCA	0.398																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1246-1248)gGa>gAa		zinc finger protein 701							97.0	97.0	97.0					19																	53086361		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086361G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1247G>A	19.37:g.53086361G>A	ENSP00000444339:p.Gly416Glu					ZNF701_ENST00000301093.2_Missense_Mutation_p.G416E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350E	p.G416E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1472	+			350					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1247G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281263	0.23392	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01599	4.74;4.74;4.74	1.87	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	L	0.28115	0.83	0.24426	N	0.994595	D;B	0.53745	0.962;0.215	P;B	0.57057	0.812;0.173	T	0.48186	-0.9057	9	0.87932	D	0	.	10.7856	0.46403	0.0:0.0:1.0:0.0	.	416;350	F5GZM6;Q9NV72	.;ZN701_HUMAN	E	350;416;416	ENSP00000375662:G350E;ENSP00000301093:G416E;ENSP00000444339:G416E	ENSP00000301093:G416E	G	+	2	0	ZNF701	57778173	1.000000	0.71417	0.419000	0.26584	0.070000	0.16714	3.997000	0.57016	1.034000	0.39945	0.400000	0.26472	GGA		0.398	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		11	153	0	0	0	1	0	11	153				
TOE1	114034	broad.mit.edu	37	1	45807677	45807677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:45807677G>C	ENST00000372090.5	+	5	973	c.390G>C	c.(388-390)gaG>gaC	p.E130D	TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.E50D|MUTYH_ENST00000450313.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	130						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCATGGAGGAGTATGTCATAG	0.468																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(388-390)gaG>gaC		target of EGR1, member 1 (nuclear)							163.0	136.0	145.0					1																	45807677		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45807677G>C		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.390G>C	1.37:g.45807677G>C	ENSP00000361162:p.Glu130Asp					TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.E50D	p.E130D	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			5	973	+	Acute lymphoblastic leukemia(166;0.155)		130					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.390G>C	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859786	0.32884	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.24908	1.83;1.83	5.66	2.11	0.27256	Ribonuclease H-like (1);	0.147586	0.64402	D	0.000010	T	0.16041	0.0386	L	0.39147	1.195	0.39516	D	0.968437	B;B;B	0.26602	0.014;0.154;0.154	B;B;B	0.33568	0.027;0.166;0.137	T	0.14811	-1.0459	10	0.05620	T	0.96	-21.9985	4.1804	0.10372	0.3187:0.0:0.4331:0.2482	.	136;50;130	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	D	130;50	ENSP00000361162:E130D;ENSP00000438900:E50D	ENSP00000361162:E130D	E	+	3	2	TOE1	45580264	0.921000	0.31238	1.000000	0.80357	0.998000	0.95712	-0.031000	0.12287	0.212000	0.20703	0.561000	0.74099	GAG		0.468	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		5	105	0	0	0	1	0	5	105				
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:134386815C>T	ENST00000372228.3	+	10	1192	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	POMT1_ENST00000354713.4_Missense_Mutation_p.P286L|POMT1_ENST00000402686.3_Missense_Mutation_p.P316L|POMT1_ENST00000423007.1_Missense_Mutation_p.P316L|POMT1_ENST00000404875.2_Missense_Mutation_p.P199L|POMT1_ENST00000541219.1_Missense_Mutation_p.P94L|POMT1_ENST00000419118.2_Missense_Mutation_p.P164L|POMT1_ENST00000341012.7_Missense_Mutation_p.P262L|POMT1_ENST00000485278.1_3'UTR	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(946-948)cCc>cTc		protein-O-mannosyltransferase 1							128.0	109.0	115.0					9																	134386815		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134386815C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1013C>T	9.37:g.134386815C>T	ENSP00000361302:p.Pro338Leu					POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316L|POMT1_ENST00000419118.2_Missense_Mutation_p.P164L|POMT1_ENST00000372228.3_Missense_Mutation_p.P338L|POMT1_ENST00000404875.2_Missense_Mutation_p.P199L|POMT1_ENST00000354713.4_Missense_Mutation_p.P286L|POMT1_ENST00000541219.1_Missense_Mutation_p.P94L|POMT1_ENST00000341012.7_Missense_Mutation_p.P262L	p.P316L	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	10	1389	+		Myeloproliferative disorder(178;0.204)	338					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.947C>T	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079327	0.76528	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.37	5.37	0.77165	MIR motif (2);MIR (1);	0.052758	0.85682	D	0.000000	D	0.89942	0.6861	M	0.83953	2.67	0.80722	D	1	B;B;B;D;P	0.65815	0.042;0.444;0.262;0.995;0.58	B;B;B;P;B	0.61800	0.05;0.206;0.146;0.894;0.373	D	0.90182	0.4243	10	0.48119	T	0.1	-16.5555	13.5538	0.61747	0.1563:0.8437:0.0:0.0	.	41;286;94;338;316	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	L	316;199;262;221;338;316;164;94;286	ENSP00000404119:P316L;ENSP00000384531:P199L;ENSP00000343034:P262L;ENSP00000395060:P221L;ENSP00000361302:P338L;ENSP00000385797:P316L;ENSP00000403032:P164L;ENSP00000440895:P94L;ENSP00000346748:P286L	ENSP00000343034:P262L	P	+	2	0	POMT1	133376636	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.510000	0.67018	2.505000	0.84491	0.563000	0.77884	CCC		0.498	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		8	90	0	0	0	1	0	8	90				
OR5I1	10798	broad.mit.edu	37	11	55703751	55703751	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55703751T>C	ENST00000301532.3	-	1	125	c.126A>G	c.(124-126)atA>atG	p.I42M		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	42					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATGTTCCCTATCAGAATTA	0.398																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(124-126)atA>atG		olfactory receptor, family 5, subfamily I, member 1							68.0	66.0	67.0					11																	55703751		2200	4295	6495	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703751T>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.126A>G	11.37:g.55703751T>C	ENSP00000301532:p.Ile42Met						p.I42M	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	125	-			42					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.126A>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.229502	0.01518	.	.	ENSG00000167825	ENST00000301532	T	0.04156	3.69	5.05	-10.1	0.00402	.	1.134170	0.06644	N	0.761585	T	0.01695	0.0054	N	0.05230	-0.09	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	10	0.45353	T	0.12	.	0.7325	0.00959	0.3214:0.1208:0.1766:0.3812	.	42	Q13606	OR5I1_HUMAN	M	42	ENSP00000301532:I42M	ENSP00000301532:I42M	I	-	3	3	OR5I1	55460327	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-5.513000	0.00117	-2.915000	0.00306	-1.347000	0.01240	ATA		0.398	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		6	82	0	0	0	1	0	6	82				
PLXNA2	5362	broad.mit.edu	37	1	208215711	208215711	+	Splice_Site	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:208215711C>A	ENST00000367033.3	-	22	4775	c.4018G>T	c.(4018-4020)Gta>Tta	p.V1340L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1340					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTTCCTTGTACCTGGGGTGGG	0.612																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e22-1		plexin A2							103.0	105.0	104.0					1																	208215711		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208215711C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4018-1G>T	1.37:g.208215711C>A							p.V1340_splice	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	22	4775	-			1340					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Splice_Site	SNP	ENST00000367033.3	37	c.4017_splice	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661219	0.88154	.	.	ENSG00000076356	ENST00000367033	T	0.01005	5.45	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.02455	0.0075	L	0.52126	1.63	0.80722	D	1	D	0.54397	0.966	P	0.52598	0.703	T	0.73519	-0.3957	10	0.16420	T	0.52	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	1340	O75051	PLXA2_HUMAN	L	1340	ENSP00000356000:V1340L	ENSP00000356000:V1340L	V	-	1	0	PLXNA2	206282334	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.480000	0.81109	2.460000	0.83146	0.557000	0.71058	GTA		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation	6	71	1	0	0.0215528	1	0.0216126	6	71				
CTTN	2017	broad.mit.edu	37	11	70281216	70281216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:70281216G>C	ENST00000301843.8	+	18	1807	c.1601G>C	c.(1600-1602)tGc>tCc	p.C534S	CTTN_ENST00000538675.1_Missense_Mutation_p.C218S|CTTN_ENST00000346329.3_Missense_Mutation_p.C497S|CTTN_ENST00000376561.3_Missense_Mutation_p.C497S	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	534	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCGGGGTGTGCAAGGGCCGG	0.622																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1489-1491)tGc>tCc		cortactin							64.0	58.0	60.0					11																	70281216		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281216G>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1601G>C	11.37:g.70281216G>C	ENSP00000301843:p.Cys534Ser					CTTN_ENST00000538675.1_Missense_Mutation_p.C218S|CTTN_ENST00000376561.3_Missense_Mutation_p.C497S|CTTN_ENST00000301843.8_Missense_Mutation_p.C534S	p.C497S	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	17	1798	+			534			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1490G>C	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310729	0.60414	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.45276	1.0;1.0;0.9;0.9;0.9	5.82	3.96	0.45880	Src homology-3 domain (5);	0.097794	0.64402	D	0.000001	T	0.47358	0.1441	N	0.16656	0.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.51601	-0.8685	10	0.87932	D	0	-40.9992	12.6499	0.56755	0.134:0.0:0.866:0.0	.	218;497;534;497	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	S	497;534;497;218;191	ENSP00000317189:C497S;ENSP00000301843:C534S;ENSP00000365745:C497S;ENSP00000439762:C218S;ENSP00000431421:C191S	ENSP00000301843:C534S	C	+	2	0	CTTN	69958864	1.000000	0.71417	0.994000	0.49952	0.316000	0.28119	9.579000	0.98204	0.807000	0.34208	-0.136000	0.14681	TGC		0.622	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		5	76	0	0	0	1	0	5	76				
TONSL	4796	broad.mit.edu	37	8	145657756	145657756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145657756C>T	ENST00000409379.3	-	23	3676	c.3647G>A	c.(3646-3648)gGc>gAc	p.G1216D	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1216					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CAGGAGGGTGCCGGCGGGCAG	0.662																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3646-3648)gGc>gAc		tonsoku-like, DNA repair protein							63.0	69.0	67.0					8																	145657756		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145657756C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3647G>A	8.37:g.145657756C>T	ENSP00000386239:p.Gly1216Asp						p.G1216D	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			23	3676	-			1216					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3647G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	N	0.140	-1.102952	0.01828	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.41758	0.99	5.03	-3.66	0.04489	.	1.141880	0.06233	N	0.689046	T	0.22322	0.0538	N	0.11313	0.125	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.34453	-0.9828	10	0.11794	T	0.64	0.0964	12.4209	0.55520	0.0:0.3908:0.0:0.6092	.	1216	Q96HA7	TONSL_HUMAN	D	1216;1215	ENSP00000386239:G1216D	ENSP00000386239:G1216D	G	-	2	0	TONSL	145628564	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.888000	0.04148	-1.394000	0.02077	-1.461000	0.01025	GGC		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		13	107	0	0	0	1	0	13	107				
CADPS	8618	broad.mit.edu	37	3	62478013	62478013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:62478013C>T	ENST00000383710.4	-	20	3185	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CADPS_ENST00000283269.9_Missense_Mutation_p.D956N|CADPS_ENST00000357948.3_Missense_Mutation_p.D916N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	946	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAAAACTGTCCCATGTGTCT	0.448																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2836-2838)Gac>Aac		Ca++-dependent secretion activator							286.0	279.0	282.0					3																	62478013		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478013C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2836G>A	3.37:g.62478013C>T	ENSP00000373215:p.Asp946Asn					CADPS_ENST00000283269.9_Missense_Mutation_p.D956N|CADPS_ENST00000357948.3_Missense_Mutation_p.D916N	p.D946N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3185	-		Lung SC(41;0.0452)	946			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2836G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.23|18.23	3.579086|3.579086	0.65878|0.65878	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000491424	T;T;T|.	0.29142|.	1.58;1.58;1.58|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Munc13 homology 1 (1);|.	0.045867|.	0.85682|.	D|.	0.000000|.	T|T	0.73345|0.73345	0.3575|0.3575	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;D;P;B|.	0.71674|.	0.145;0.998;0.651;0.033|.	B;D;B;B|.	0.78314|.	0.159;0.991;0.15;0.059|.	T|T	0.66716|0.66716	-0.5853|-0.5853	10|5	0.32370|.	T|.	0.25|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	916;956;946;946|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	N|E	946;946;916;956|248	ENSP00000373215:D946N;ENSP00000350632:D916N;ENSP00000283269:D956N|.	ENSP00000283269:D956N|.	D|G	-|-	1|2	0|0	CADPS|CADPS	62453053|62453053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		27	453	0	0	0	1	0	27	453				
PDE11A	50940	broad.mit.edu	37	2	178494258	178494258	+	Silent	SNP	C	C	T	rs79512110	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:178494258C>T	ENST00000286063.6	-	20	2996	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	PDE11A_ENST00000450799.2_Silent_p.P84P|PDE11A_ENST00000449286.2_Silent_p.P535P|PDE11A_ENST00000409504.1_Silent_p.P535P|PDE11A_ENST00000358450.4_Silent_p.P643P|PDE11A_ENST00000389683.3_Silent_p.P449P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	893	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AATCTAGCATCGGCTTCAGTT	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial				C|||	2	0.000399361	0.0	0.0	5008	,	,		20941	0.002		0.0	False		,,,				2504	0.0					ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(2677-2679)ccG>ccA		phosphodiesterase 11A		C	,,,	3,4403	6.2+/-15.9	0,3,2200	229.0	204.0	212.0		1347,1929,1605,2679	-11.4	0.0	2	dbSNP_133	212	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE11A	NM_001077196.1,NM_001077197.1,NM_001077358.1,NM_016953.3	,,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,,	449/490,643/684,535/576,893/934	178494258	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178494258C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2679G>A	2.37:g.178494258C>T						PDE11A_ENST00000449286.2_Silent_p.P535P|PDE11A_ENST00000450799.2_Silent_p.P84P|PDE11A_ENST00000358450.4_Silent_p.P643P|PDE11A_ENST00000409504.1_Silent_p.P535P|PDE11A_ENST00000389683.3_Silent_p.P449P	p.P893P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		20	2996	-			893			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.2679G>A	CCDS33334.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	6.526	0.465282	0.12402	6.81E-4	1.16E-4	ENSG00000128655	ENST00000436700	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63567	-0.6608	4	.	.	.	.	3.0923	0.06297	0.2089:0.0814:0.3493:0.3604	.	.	.	.	N	96	.	.	D	-	1	0	PDE11A	178202504	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	-6.135000	0.00079	-5.877000	0.00008	-0.469000	0.05056	GAT		0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			10	151	0	0	0	1	0	10	151				
VCP	7415	broad.mit.edu	37	9	35061120	35061120	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:35061120C>T	ENST00000358901.6	-	11	2146	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	417					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCAGAGCAGCCTCTGAGCACA	0.512																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1249-1251)gaG>gaA		valosin containing protein							129.0	123.0	125.0					9																	35061120		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061120C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1251G>A	9.37:g.35061120C>T							p.E417E	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		11	2146	-			417					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1251G>A	CCDS6573.1																																																																																				0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		22	261	0	0	0	1	0	22	261				
ADAM19	8728	broad.mit.edu	37	5	156991411	156991411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:156991411C>T	ENST00000517905.1	-	3	265	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Missense_Mutation_p.R74Q|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.R76Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	74					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAGTTCTCGCCCCTCAGC	0.502																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(220-222)cGa>cAa		ADAM metallopeptidase domain 19							112.0	101.0	105.0					5																	156991411		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156991411C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.221G>A	5.37:g.156991411C>T	ENSP00000428654:p.Arg74Gln					ADAM19_ENST00000394020.1_Missense_Mutation_p.R76Q|ADAM19_ENST00000517905.1_Missense_Mutation_p.R74Q|ADAM19_ENST00000430702.2_5'UTR	p.R74Q	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	299	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	74					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.221G>A		.	.	.	.	.	.	.	.	.	.	C	6.455	0.452123	0.12283	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.06068	3.35;3.35;3.35	5.52	-1.84	0.07809	.	0.812860	0.10642	N	0.650891	T	0.03263	0.0095	N	0.12502	0.225	0.21802	N	0.999532	B	0.12013	0.005	B	0.04013	0.001	T	0.48127	-0.9062	10	0.13108	T	0.6	.	9.8412	0.40999	0.0:0.2642:0.0:0.7358	.	74	Q9H013-2	.	Q	74;76;74	ENSP00000257527:R74Q;ENSP00000377588:R76Q;ENSP00000428654:R74Q	ENSP00000257527:R74Q	R	-	2	0	ADAM19	156923989	0.013000	0.17824	0.791000	0.31998	0.991000	0.79684	-1.399000	0.02506	-0.239000	0.09710	0.655000	0.94253	CGA		0.502	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		5	68	0	0	0	1	0	5	68				
FUK	197258	broad.mit.edu	37	16	70514946	70514946	+	IGR	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:70514946G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.F779F	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTCACTGCGGAAGTCTATCC	0.612																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(2335-2337)ttC>ttT		component of oligomeric golgi complex 4							47.0	49.0	48.0					16																	70514946		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70514946G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70514946G>A							p.F779F	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			19	2358	-		Ovarian(137;0.0694)	775			E domain; essential for proper cell surface glycosylation.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.2337C>T	CCDS10891.2																																																																																				0.612	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		6	93	0	0	0	1	0	6	93				
GSTCD	79807	broad.mit.edu	37	4	106650653	106650653	+	Missense_Mutation	SNP	G	G	A	rs140843076		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:106650653G>A	ENST00000515279.1	+	5	1457	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	GSTCD_ENST00000360505.5_Missense_Mutation_p.E413K|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000507281.1_Missense_Mutation_p.E326K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E326K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E413K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	413						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAGCCCAAAGGAAGGTGAGTT	0.393																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(1237-1239)Gaa>Aaa		glutathione S-transferase, C-terminal domain containing		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	90.0	90.0	90.0		1237,976	5.6	1.0	4	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GSTCD	NM_001031720.2,NM_024751.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	413/634,326/547	106650653	1,13005	2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106650653G>A	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1237G>A	4.37:g.106650653G>A	ENSP00000422354:p.Glu413Lys					GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.E413K|GSTCD_ENST00000507281.1_Missense_Mutation_p.E326K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E413K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E326K	p.E413K			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	5	1457	+		Hepatocellular(203;0.217)	413					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.1237G>A	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743351	0.69418	0.0	1.16E-4	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	L	0.55481	1.735	0.80722	D	1	D;B;B	0.89917	1.0;0.298;0.004	D;B;B	0.83275	0.996;0.073;0.004	T	0.71024	-0.4712	9	0.29301	T	0.29	-21.6958	18.5634	0.91108	0.0:0.0:1.0:0.0	.	326;413;36	D6R9W2;Q8NEC7;B7Z8J7	.;GSTCD_HUMAN;.	K	326;326;413;413;413	.	ENSP00000353695:E413K	E	+	1	0	GSTCD	106870102	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.576000	0.67437	2.633000	0.89246	0.591000	0.81541	GAA		0.393	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		7	62	0	0	0	1	0	7	62				
FSCB	84075	broad.mit.edu	37	14	44975065	44975065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:44975065G>A	ENST00000340446.4	-	1	1417	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	376	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTGAAGGAGACTTTTCA	0.522																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1126-1128)Cct>Tct		fibrous sheath CABYR binding protein							90.0	103.0	99.0					14																	44975065		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975065G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1126C>T	14.37:g.44975065G>A	ENSP00000344579:p.Pro376Ser						p.P376S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1417	-			376			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1126C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	g	2.979	-0.210636	0.06140	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15603	2.41	4.31	0.107	0.14544	.	.	.	.	.	T	0.07098	0.0180	N	0.16656	0.425	0.09310	N	1	P	0.37101	0.582	B	0.30316	0.114	T	0.32107	-0.9919	9	0.23891	T	0.37	.	4.0267	0.09690	0.3018:0.0:0.5311:0.1671	.	376	Q5H9T9	FSCB_HUMAN	S	376	ENSP00000344579:P376S	ENSP00000344579:P376S	P	-	1	0	FSCB	44044815	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.601000	0.24119	0.053000	0.16036	0.508000	0.49915	CCT		0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		16	186	0	0	0	1	0	16	186				
OR8K5	219453	broad.mit.edu	37	11	55927214	55927214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55927214C>T	ENST00000313447.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTCTATTTCCTGTGCATTT	0.333																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(580-582)Gaa>Aaa		olfactory receptor, family 8, subfamily K, member 5							82.0	84.0	83.0					11																	55927214		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927214C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.580G>A	11.37:g.55927214C>T	ENSP00000323853:p.Glu194Lys						p.E194K	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	579	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	194					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.580G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723830	0.30593	.	.	ENSG00000181752	ENST00000313447	T	0.00368	7.76	4.18	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.244558	0.29624	N	0.011625	T	0.00210	0.0006	N	0.21142	0.635	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.46162	-0.9211	10	0.49607	T	0.09	.	6.7119	0.23282	0.1989:0.608:0.1931:0.0	.	194	Q8NH50	OR8K5_HUMAN	K	194	ENSP00000323853:E194K	ENSP00000323853:E194K	E	-	1	0	OR8K5	55683790	0.000000	0.05858	0.007000	0.13788	0.806000	0.45545	-1.480000	0.02325	2.308000	0.77769	0.567000	0.79289	GAA		0.333	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		7	110	0	0	0	1	0	7	110				
CPNE4	131034	broad.mit.edu	37	3	131388572	131388572	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:131388572A>T	ENST00000512055.1	-	11	2754	c.628T>A	c.(628-630)Ttc>Atc	p.F210I	CPNE4_ENST00000502818.1_Missense_Mutation_p.F228I|CPNE4_ENST00000429747.1_Missense_Mutation_p.F210I|CPNE4_ENST00000511604.1_Missense_Mutation_p.F210I|CPNE4_ENST00000512332.1_Missense_Mutation_p.F228I			Q96A23	CPNE4_HUMAN	copine IV	210	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GATACTTTGAATGATTTCCAG	0.408																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(628-630)Ttc>Atc		copine IV							83.0	91.0	88.0					3																	131388572		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131388572A>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.628T>A	3.37:g.131388572A>T	ENSP00000421705:p.Phe210Ile					CPNE4_ENST00000502818.1_Missense_Mutation_p.F228I|CPNE4_ENST00000429747.1_Missense_Mutation_p.F210I|CPNE4_ENST00000512332.1_Missense_Mutation_p.F228I|CPNE4_ENST00000511604.1_Missense_Mutation_p.F210I	p.F210I			Q96A23	CPNE4_HUMAN			11	2754	-			210			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.628T>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593425	0.86953	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.73753	2.245	0.58432	D	0.999999	P;D	0.67145	0.954;0.996	P;D	0.70716	0.809;0.97	T	0.73814	-0.3864	10	0.59425	D	0.04	-24.1532	13.4295	0.61046	1.0:0.0:0.0:0.0	.	228;210	Q96A23-2;Q96A23	.;CPNE4_HUMAN	I	210;210;228;210;228	ENSP00000421705:F210I;ENSP00000411904:F210I;ENSP00000424853:F228I;ENSP00000423811:F210I;ENSP00000421646:F228I	ENSP00000411904:F210I	F	-	1	0	CPNE4	132871262	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.826000	0.75298	2.161000	0.67846	0.533000	0.62120	TTC		0.408	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		8	182	0	0	0	1	0	8	182				
UBE2D2	7322	broad.mit.edu	37	5	138994175	138994175	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:138994175C>T	ENST00000398733.3	+	3	719	c.93C>T	c.(91-93)ttC>ttT	p.F31F	UBE2D2_ENST00000511725.1_Silent_p.F2F|UBE2D2_ENST00000505548.1_Silent_p.F2F|UBE2D2_ENST00000253815.2_Silent_p.F2F	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	31					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.F31L(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCAGTGTTCCATTGGCAAG	0.303																																						ENST00000253815.2																			1	Substitution - Missense(1)	p.F31L(1)	breast(1)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(4-6)ttC>ttT		ubiquitin-conjugating enzyme E2D 2							127.0	117.0	121.0					5																	138994175		1856	4085	5941	SO:0001819	synonymous_variant	7322				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr5:138994175C>T	L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.93C>T	5.37:g.138994175C>T						UBE2D2_ENST00000398733.3_Silent_p.F31F|UBE2D2_ENST00000511725.1_Silent_p.F2F|UBE2D2_ENST00000505548.1_Silent_p.F2F	p.F2F	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	883	+			31					D3DQC9|P51669|Q3MN78|Q96RP6	Silent	SNP	ENST00000398733.3	37	c.6C>T	CCDS43369.1																																																																																				0.303	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838		6	113	0	0	0	1	0	6	113				
LPP	4026	broad.mit.edu	37	3	188123992	188123992	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:188123992C>T	ENST00000312675.4	+	3	330	c.84C>T	c.(82-84)tcC>tcT	p.S28S	LPP_ENST00000543006.1_Silent_p.S28S|LPP_ENST00000448637.1_Silent_p.S28S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	28					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCACCCATTCCTTTGGGAACC	0.522			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(82-84)tcC>tcT		LIM domain containing preferred translocation partner in lipoma							152.0	149.0	150.0					3																	188123992		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188123992C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.84C>T	3.37:g.188123992C>T						LPP_ENST00000448637.1_Silent_p.S28S|LPP_ENST00000543006.1_Silent_p.S28S	p.S28S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	3	330	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	28					A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.84C>T	CCDS3291.1																																																																																				0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		30	280	0	0	0	1	0	30	280				
LY9	4063	broad.mit.edu	37	1	160793529	160793529	+	Silent	SNP	G	G	A	rs41266935		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:160793529G>A	ENST00000263285.6	+	8	1803	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	LY9_ENST00000341032.4_Silent_p.T457T|LY9_ENST00000368037.5_Silent_p.T577T|LY9_ENST00000368040.1_Silent_p.T229T|LY9_ENST00000392203.4_Silent_p.T501T|LY9_ENST00000368041.2_Silent_p.T461T			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	591					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATATGTCACGGAAGTTGAGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		24385	0.0		0.001	False		,,,				2504	0.0					ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1771-1773)acG>acA		lymphocyte antigen 9		G		0,4406		0,0,2203	174.0	165.0	168.0		1773	1.2	0.0	1	dbSNP_127	168	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	LY9	NM_002348.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		591/656	160793529	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793529G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1773G>A	1.37:g.160793529G>A						LY9_ENST00000368041.2_Silent_p.T461T|LY9_ENST00000368040.1_Silent_p.T229T|LY9_ENST00000368035.1_Silent_p.T229T|LY9_ENST00000341032.4_Silent_p.T457T	p.T591T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1803	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		591					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.1773G>A	CCDS30916.1																																																																																				0.517	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		11	253	0	0	0	1	0	11	253				
OR1B1	347169	broad.mit.edu	37	9	125391097	125391097	+	Missense_Mutation	SNP	G	G	A	rs138583280		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125391097G>A	ENST00000304833.3	-	1	755	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCTCGGCGGCGACCAGCAGCT	0.557																																						ENST00000304833.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(718-720)Cgc>Tgc		olfactory receptor, family 1, subfamily B, member 1			CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	72.0	73.0		718	2.8	0.6	9	dbSNP_134	73	0,8600		0,0,4300	no	missense	OR1B1	NM_001004450.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/319	125391097	1,13005	2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391097G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.718C>T	9.37:g.125391097G>A	ENSP00000303151:p.Arg240Cys					RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	p.R240C	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN			1	755	-			240					Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.718C>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	g	12.00	1.807820	0.31961	2.27E-4	0.0	ENSG00000171484	ENST00000304833	T	0.00337	8.05	4.72	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000463	T	0.00496	0.0016	M	0.66439	2.03	0.09310	N	1	P	0.51449	0.945	P	0.59825	0.864	T	0.45220	-0.9276	10	0.87932	D	0	-12.0489	6.3949	0.21607	0.0862:0.0:0.4801:0.4337	.	240	Q8NGR6	OR1B1_HUMAN	C	240	ENSP00000303151:R240C	ENSP00000303151:R240C	R	-	1	0	OR1B1	124430918	0.000000	0.05858	0.552000	0.28243	0.456000	0.32438	0.399000	0.20916	0.686000	0.31488	0.645000	0.84053	CGC		0.557	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		6	102	0	0	0	1	0	6	102				
ITPR3	3710	broad.mit.edu	37	6	33658769	33658769	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33658769C>T	ENST00000374316.5	+	53	8168	c.7108C>T	c.(7108-7110)Ctg>Ttg	p.L2370L	ITPR3_ENST00000605930.1_Silent_p.L2370L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2370					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCGCTCCATCCTGCTGACAGC	0.577																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7108-7110)Ctg>Ttg		inositol 1,4,5-trisphosphate receptor, type 3							150.0	121.0	131.0					6																	33658769		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33658769C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7108C>T	6.37:g.33658769C>T						ITPR3_ENST00000605930.1_Silent_p.L2370L	p.L2370L			Q14573	ITPR3_HUMAN			53	8168	+			2370					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7108C>T	CCDS4783.1																																																																																				0.577	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	87	0	0	0	1	0	6	87				
ETS1	2113	broad.mit.edu	37	11	128332363	128332363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:128332363C>T	ENST00000319397.6	-	8	1528	c.1219G>A	c.(1219-1221)Ggg>Agg	p.G407R	ETS1_ENST00000526145.2_Missense_Mutation_p.G320R|ETS1_ENST00000535549.1_Missense_Mutation_p.G191R|ETS1_ENST00000392668.4_Missense_Mutation_p.G451R|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000345075.4_Missense_Mutation_p.G320R	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	407					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TAGCGTTTCCCCGCTGTCTTG	0.522																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(1351-1353)Ggg>Agg		v-ets avian erythroblastosis virus E26 oncogene homolog 1							198.0	157.0	171.0					11																	128332363		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128332363C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.1219G>A	11.37:g.128332363C>T	ENSP00000324578:p.Gly407Arg					ETS1_ENST00000345075.4_Missense_Mutation_p.G320R|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.G191R|ETS1_ENST00000319397.5_Missense_Mutation_p.G407R|ETS1_ENST00000526145.1_Missense_Mutation_p.G320R	p.G451R	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	10	1419	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	407					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.1351G>A	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516064	0.85495	.	.	ENSG00000134954	ENST00000345075;ENST00000535549;ENST00000392668;ENST00000319397;ENST00000526145	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.95	5.03	0.67393	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	D;D;D	0.97110	0.913;0.999;1.0	T	0.78708	-0.2099	10	0.87932	D	0	.	16.5049	0.84268	0.132:0.868:0.0:0.0	.	407;191;451	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	R	320;191;451;407;320	ENSP00000340485:G320R;ENSP00000441430:G191R;ENSP00000376436:G451R;ENSP00000324578:G407R;ENSP00000433500:G320R	ENSP00000324578:G407R	G	-	1	0	ETS1	127837573	1.000000	0.71417	0.767000	0.31495	0.816000	0.46133	7.814000	0.86154	1.489000	0.48450	0.650000	0.86243	GGG		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		4	79	0	0	0	1	0	4	79				
COL4A1	1282	broad.mit.edu	37	13	110827026	110827026	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:110827026G>T	ENST00000375820.4	-	38	3390	c.3269C>A	c.(3268-3270)cCa>cAa	p.P1090Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1090	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCATTCCTGGGATCCCAAT	0.522																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3268-3270)cCa>cAa		collagen, type IV, alpha 1							105.0	116.0	113.0					13																	110827026		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110827026G>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3269C>A	13.37:g.110827026G>T	ENSP00000364979:p.Pro1090Gln						p.P1090Q	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		38	3390	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1090			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3269C>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418770	0.62622	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.97752	-4.52	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98591	1.0654	10	0.51188	T	0.08	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	1090	P02462	CO4A1_HUMAN	Q	733;1090;739	ENSP00000364979:P1090Q	ENSP00000364973:P733Q	P	-	2	0	COL4A1	109625027	1.000000	0.71417	0.575000	0.28536	0.140000	0.21249	7.064000	0.76721	2.735000	0.93741	0.655000	0.94253	CCA		0.522	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	159	1	0	0.000274275	1	0.000277348	9	159				
IVNS1ABP	10625	broad.mit.edu	37	1	185267255	185267255	+	Missense_Mutation	SNP	A	A	C	rs373725670		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:185267255A>C	ENST00000367498.3	-	15	2463	c.1841T>G	c.(1840-1842)tTc>tGc	p.F614C	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.F396C|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	614					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATTGCCATCGAATCCTCCCAC	0.398																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1840-1842)tTc>tGc		influenza virus NS1A binding protein		A	CYS/PHE	0,4406		0,0,2203	268.0	244.0	252.0		1841	5.4	1.0	1		252	1,8599	1.2+/-3.3	0,1,4299	no	missense	IVNS1ABP	NM_006469.4	205	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	probably-damaging	614/643	185267255	1,13005	2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267255A>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1841T>G	1.37:g.185267255A>C	ENSP00000356468:p.Phe614Cys					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.F396C	p.F614C	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			15	2463	-			614					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1841T>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060703	0.76074	0.0	1.16E-4	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.76578	-1.03;-1.03	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.044752	0.85682	D	0.000000	D	0.85995	0.5827	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.87471	0.2414	10	0.87932	D	0	.	15.6903	0.77446	1.0:0.0:0.0:0.0	.	396;614	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	C	614;396	ENSP00000356468:F614C;ENSP00000375864:F396C	ENSP00000356468:F614C	F	-	2	0	IVNS1ABP	183533878	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.118000	0.94355	2.163000	0.67991	0.460000	0.39030	TTC		0.398	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		12	342	0	0	0	1	0	12	342				
EPB41L2	2037	broad.mit.edu	37	6	131277325	131277325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:131277325C>T	ENST00000337057.3	-	2	482	c.301G>A	c.(301-303)Gag>Aag	p.E101K	EPB41L2_ENST00000529208.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E101K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E101K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	101					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGGTAGgctcttttttatct	0.453																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(301-303)Gag>Aag		erythrocyte membrane protein band 4.1-like 2							149.0	145.0	146.0					6																	131277325		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277325C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.301G>A	6.37:g.131277325C>T	ENSP00000338481:p.Glu101Lys					EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E101K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E101K	p.E101K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	482	-	Breast(56;0.0639)		101					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.301G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593361	0.46214	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983;ENST00000531356;ENST00000530707	D;D;D;D;D;D;D;D;D;D;D;T;T;T;T;T	0.82803	-1.64;-1.65;-1.64;-1.64;-1.64;-1.64;-1.65;-1.64;-1.64;-1.65;-1.65;0.78;0.78;0.79;0.82;0.82	5.99	5.12	0.69794	.	0.209878	0.34411	N	0.003987	T	0.52773	0.1755	L	0.29908	0.895	0.32387	N	0.5538	B;B;B;P;B	0.34800	0.008;0.003;0.003;0.469;0.003	B;B;B;B;B	0.29524	0.005;0.003;0.003;0.103;0.003	T	0.48043	-0.9069	10	0.17832	T	0.49	.	7.2099	0.25927	0.0:0.8239:0.0:0.1761	.	101;101;101;101;101	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	K	101	ENSP00000434308:E101K;ENSP00000434576:E101K;ENSP00000402041:E101K;ENSP00000338481:E101K;ENSP00000376222:E101K;ENSP00000357110:E101K;ENSP00000436348:E101K;ENSP00000432803:E101K;ENSP00000431988:E101K;ENSP00000431647:E101K;ENSP00000436641:E101K;ENSP00000436871:E101K;ENSP00000432013:E101K;ENSP00000432329:E101K;ENSP00000436145:E101K;ENSP00000435556:E101K	ENSP00000338481:E101K	E	-	1	0	EPB41L2	131319018	0.785000	0.28726	0.994000	0.49952	0.723000	0.41478	1.653000	0.37323	2.840000	0.97914	0.655000	0.94253	GAG		0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			15	268	0	0	0	1	0	15	268				
RHOT1	55288	broad.mit.edu	37	17	30509843	30509843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:30509843C>T	ENST00000333942.6	+	7	636	c.397C>T	c.(397-399)Cct>Tct	p.P133S	RHOT1_ENST00000583994.1_Missense_Mutation_p.P6S|RHOT1_ENST00000394692.2_Missense_Mutation_p.P133S|RHOT1_ENST00000545287.2_Missense_Mutation_p.P133S|RHOT1_ENST00000358365.3_Missense_Mutation_p.P133S|RHOT1_ENST00000580976.1_Intron|AC116407.2_ENST00000600034.1_5'Flank|RHOT1_ENST00000354266.3_Missense_Mutation_p.P112S|RHOT1_ENST00000581094.1_Missense_Mutation_p.P133S	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	133	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GACCATCCTTCCTATTATGAA	0.338																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(397-399)Cct>Tct		ras homolog family member T1							132.0	139.0	137.0					17																	30509843		2203	4299	6502	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30509843C>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.397C>T	17.37:g.30509843C>T	ENSP00000334724:p.Pro133Ser					RHOT1_ENST00000583994.1_Missense_Mutation_p.P6S|RHOT1_ENST00000581094.1_Missense_Mutation_p.P133S|RHOT1_ENST00000545287.2_Missense_Mutation_p.P133S|RHOT1_ENST00000394692.2_Missense_Mutation_p.P133S|RHOT1_ENST00000354266.3_Missense_Mutation_p.P112S|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000333942.6_Missense_Mutation_p.P133S	p.P133S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			7	624	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	133			Miro 1.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.397C>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211338	0.58343	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.78	5.78	0.91487	Small GTP-binding protein domain (1);MIRO (1);	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;0.992;0.959	D;P;D;P	0.77557	0.99;0.893;0.92;0.749	D	0.84967	0.0880	10	0.62326	D	0.03	-9.0788	20.0027	0.97425	0.0:1.0:0.0:0.0	.	133;133;133;133	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	S	133	ENSP00000351132:P133S;ENSP00000378184:P133S;ENSP00000334724:P133S;ENSP00000439737:P133S	ENSP00000334724:P133S	P	+	1	0	RHOT1	27533956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.682000	0.84083	2.733000	0.93635	0.655000	0.94253	CCT		0.338	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		9	167	0	0	0	1	0	9	167				
DCN	1634	broad.mit.edu	37	12	91552139	91552139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:91552139G>A	ENST00000052754.5	-	4	973	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	DCN_ENST00000420120.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.H158Y|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.H158Y|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	158					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCATTCTCATGGGCACGCAGC	0.393																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(472-474)Cat>Tat		decorin							164.0	155.0	158.0					12																	91552139		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91552139G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.472C>T	12.37:g.91552139G>A	ENSP00000052754:p.His158Tyr					DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.H158Y|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.H158Y|DCN_ENST00000547568.2_Intron|DCN_ENST00000441303.2_Intron	p.H158Y	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			4	973	-			158					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.472C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920780	0.92249	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;3.64;3.64;3.64	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71794	-0.4485	10	0.72032	D	0.01	.	19.4577	0.94903	0.0:0.0:1.0:0.0	.	158	P07585	PGS2_HUMAN	Y	158	ENSP00000052754:H158Y;ENSP00000376862:H158Y;ENSP00000447654:H158Y;ENSP00000449782:H158Y;ENSP00000447886:H158Y;ENSP00000449014:H158Y	ENSP00000052754:H158Y	H	-	1	0	DCN	90076270	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.607000	0.88179	0.655000	0.94253	CAT		0.393	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		11	218	0	0	0	1	0	11	218				
KANSL1	284058	broad.mit.edu	37	17	44110815	44110815	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:44110815A>G	ENST00000262419.6	-	12	3148	c.2678T>C	c.(2677-2679)gTt>gCt	p.V893A	KANSL1_ENST00000574590.1_Missense_Mutation_p.V893A|KANSL1_ENST00000432791.1_Missense_Mutation_p.V893A|KANSL1_ENST00000575318.1_Missense_Mutation_p.V829A|KANSL1_ENST00000393476.3_Missense_Mutation_p.V187A|KANSL1_ENST00000572904.1_Missense_Mutation_p.V893A|RP11-669E14.6_ENST00000570454.1_RNA	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	893	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGAAGATCAACCTCCCGCCA	0.488																																						ENST00000262419.6																			0											c.(2677-2679)gTt>gCt		KAT8 regulatory NSL complex subunit 1							75.0	63.0	67.0					17																	44110815		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44110815A>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2678T>C	17.37:g.44110815A>G	ENSP00000262419:p.Val893Ala					KANSL1_ENST00000432791.1_Missense_Mutation_p.V893A|KANSL1_ENST00000572904.1_Missense_Mutation_p.V893A|KANSL1_ENST00000575318.1_Missense_Mutation_p.V829A|KANSL1_ENST00000393476.3_Missense_Mutation_p.V187A|KANSL1_ENST00000574590.1_Missense_Mutation_p.V893A	p.V893A	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			12	3148	-			893					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2678T>C	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876881	0.91664	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.49720	0.77;0.77;0.77	5.83	5.83	0.93111	.	0.118364	0.56097	D	0.000030	T	0.62036	0.2395	L	0.49571	1.57	0.44024	D	0.996747	D;P;P;D	0.61697	0.986;0.553;0.884;0.99	P;P;P;D	0.70935	0.876;0.665;0.784;0.971	T	0.63233	-0.6683	10	0.56958	D	0.05	-11.0853	13.5963	0.61991	1.0:0.0:0.0:0.0	.	161;224;893;893	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	A	893;893;187	ENSP00000262419:V893A;ENSP00000387393:V893A;ENSP00000377117:V187A	ENSP00000262419:V893A	V	-	2	0	KIAA1267	41466662	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.097000	0.71452	2.236000	0.73375	0.533000	0.62120	GTT		0.488	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		5	30	0	0	0	1	0	5	30				
PLEKHA8	84725	broad.mit.edu	37	7	30084777	30084777	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:30084777T>C	ENST00000449726.1	+	2	467	c.117T>C	c.(115-117)ggT>ggC	p.G39G	PLEKHA8_ENST00000396257.2_Silent_p.G39G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Silent_p.G39G|PLEKHA8_ENST00000396259.1_Silent_p.G39G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	39	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCTGGAAAGGTTGCAAAGGGA	0.403																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(115-117)ggT>ggC		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							151.0	147.0	148.0					7																	30084777		2203	4300	6503	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30084777T>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.117T>C	7.37:g.30084777T>C						PLEKHA8_ENST00000396257.2_Silent_p.G39G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Silent_p.G39G|PLEKHA8_ENST00000258679.7_Silent_p.G39G	p.G39G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			2	467	+			39			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.117T>C	CCDS56473.1																																																																																				0.403	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		13	172	0	0	0	1	0	13	172				
HTR5A	3361	broad.mit.edu	37	7	154875986	154875986	+	Missense_Mutation	SNP	G	G	A	rs576598432		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:154875986G>A	ENST00000287907.2	+	2	1439	c.863G>A	c.(862-864)gGc>gAc	p.G288D	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	288					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTCATGGTGGGCATCCTCATT	0.632																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(862-864)gGc>gAc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							182.0	145.0	157.0					7																	154875986		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875986G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.863G>A	7.37:g.154875986G>A	ENSP00000287907:p.Gly288Asp					HTR5A_ENST00000486819.1_3'UTR	p.G288D	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1439	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	288					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.863G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085397	0.94100	.	.	ENSG00000157219	ENST00000287907	T	0.37915	1.17	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86122	0.1569	10	0.87932	D	0	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	288	P47898	5HT5A_HUMAN	D	288	ENSP00000287907:G288D	ENSP00000287907:G288D	G	+	2	0	HTR5A	154506919	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	GGC		0.632	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		7	91	0	0	0	1	0	7	91				
HSPG2	3339	broad.mit.edu	37	1	22182344	22182344	+	Silent	SNP	G	G	A	rs374865097		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:22182344G>A	ENST00000374695.3	-	45	5716	c.5637C>T	c.(5635-5637)ccC>ccT	p.P1879P	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGTTGCCCGGGCTGCACTG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5635-5637)ccC>ccT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		1,4405	2.1+/-5.4	0,1,2202	45.0	46.0	46.0		5637	-10.1	0.0	1		46	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1879/4392	22182344	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22182344G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5637C>T	1.37:g.22182344G>A							p.P1879P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	45	5716	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1879			Ig-like C2-type 4.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.5637C>T	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	38	0	0	0	1	0	4	38				
FRAS1	80144	broad.mit.edu	37	4	79440498	79440498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:79440498C>T	ENST00000264895.6	+	67	10843	c.10403C>T	c.(10402-10404)gCc>gTc	p.A3468V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3464					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGGACTCTGCCCAGTCCTTC	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10402-10404)gCc>gTc		Fraser syndrome 1							114.0	121.0	119.0					4																	79440498		2156	4261	6417	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79440498C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10403C>T	4.37:g.79440498C>T	ENSP00000264895:p.Ala3468Val						p.A3468V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			67	10843	+			3463					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10403C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846036	0.32606	.	.	ENSG00000138759	ENST00000264895	T	0.11495	2.77	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	N	0.21194	0.64	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10941	-1.0608	10	0.17832	T	0.49	.	19.202	0.93714	0.0:1.0:0.0:0.0	.	3468	E9PHH6	.	V	3468	ENSP00000264895:A3468V	ENSP00000264895:A3468V	A	+	2	0	FRAS1	79659522	1.000000	0.71417	0.995000	0.50966	0.519000	0.34347	7.378000	0.79679	2.536000	0.85505	0.491000	0.48974	GCC		0.522	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	173	0	0	0	1	0	20	173				
IKBKE	9641	broad.mit.edu	37	1	206651635	206651635	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:206651635C>T	ENST00000367120.3	+	9	1318	c.945C>T	c.(943-945)tcC>tcT	p.S315S	IKBKE_ENST00000537984.1_Silent_p.S230S	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATGTCTTCTCCCTGTCCCAGG	0.582																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(943-945)tcC>tcT		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							221.0	181.0	195.0					1																	206651635		2203	4300	6503	SO:0001819	synonymous_variant	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206651635C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.945C>T	1.37:g.206651635C>T						IKBKE_ENST00000537984.1_Silent_p.S230S|IKBKE_ENST00000462698.1_3'UTR	p.S315S	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			9	1318	+	Breast(84;0.137)		315			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.945C>T	CCDS30996.1																																																																																				0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			8	141	0	0	0	1	0	8	141				
GATA2	2624	broad.mit.edu	37	3	128200698	128200698	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:128200698G>A	ENST00000341105.2	-	5	1438	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GATA2_ENST00000430265.2_Silent_p.V355V|GATA2_ENST00000487848.1_Silent_p.V369V|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	369					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCGTTGCAGACAGGGTCCC	0.652			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1105-1107)gtC>gtT		GATA binding protein 2							99.0	86.0	90.0					3																	128200698		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200698G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1107C>T	3.37:g.128200698G>A						GATA2_ENST00000487848.1_Silent_p.V369V|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.V355V	p.V369V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	5	1438	-			369					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1107C>T	CCDS3049.1																																																																																				0.652	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		8	68	0	0	0	1	0	8	68				
FCRL3	115352	broad.mit.edu	37	1	157667151	157667151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:157667151G>A	ENST00000368184.3	-	6	914	c.623C>T	c.(622-624)aCc>aTc	p.T208I	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T208I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	208	Ig-like C2-type 3.					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)					ACAGGTCAGGGTCATGGGACT	0.547																																						ENST00000368184.3																			0				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						c.(622-624)aCc>aTc		Fc receptor-like 3							69.0	74.0	72.0					1																	157667151		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667151G>A	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.623C>T	1.37:g.157667151G>A	ENSP00000357167:p.Thr208Ile					FCRL3_ENST00000368186.5_Missense_Mutation_p.T208I|FCRL3_ENST00000473231.1_5'UTR	p.T208I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			6	914	-	all_hematologic(112;0.0378)		208			Ig-like C2-type 3.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.623C>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173057	0.78452	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.16743	2.32;2.32	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.163360	0.06787	U	0.786424	T	0.38532	0.1044	M	0.89353	3.025	0.27288	N	0.957901	D;D	0.57257	0.979;0.974	P;P	0.60286	0.872;0.721	T	0.27400	-1.0075	10	0.54805	T	0.06	.	16.9579	0.86264	0.0:0.0:1.0:0.0	.	208;208	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	208	ENSP00000357169:T208I;ENSP00000357167:T208I	ENSP00000292392:T208I	T	-	2	0	FCRL3	155933775	0.978000	0.34361	0.975000	0.42487	0.763000	0.43281	1.288000	0.33296	2.602000	0.87976	0.491000	0.48974	ACC		0.547	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		8	107	0	0	0	1	0	8	107				
ZKSCAN8	7745	broad.mit.edu	37	6	28120896	28120896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:28120896C>T	ENST00000330236.6	+	6	1022	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q280*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	280	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										TACTGGAATCCAGCCACATGG	0.463																																						ENST00000330236.6																			0											c.(838-840)Cag>Tag		zinc finger with KRAB and SCAN domains 8							83.0	84.0	83.0					6																	28120896		2203	4300	6503	SO:0001587	stop_gained	7745							g.chr6:28120896C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.838C>T	6.37:g.28120896C>T	ENSP00000332750:p.Gln280*					ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q280*	p.Q280*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					6	1022	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	ENST00000330236.6	37	c.838C>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156851	0.57259	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	5.93	4.0	0.46444	.	0.245857	0.29034	N	0.013343	.	.	.	.	.	.	0.22639	N	0.998902	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.103	0.59231	0.0:0.7653:0.2347:0.0	.	.	.	.	X	280	.	ENSP00000332750:Q280X	Q	+	1	0	ZNF192	28228875	0.001000	0.12720	0.990000	0.47175	0.469000	0.32828	0.139000	0.16036	2.811000	0.96726	0.557000	0.71058	CAG		0.463	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			6	119	0	0	0	1	0	6	119				
RPTOR	57521	broad.mit.edu	37	17	78882691	78882691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:78882691G>A	ENST00000306801.3	+	21	2844	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D670N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	828					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAGGTCTCGGACGTGGCCAT	0.552																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2482-2484)Gac>Aac		regulatory associated protein of MTOR, complex 1							161.0	163.0	163.0					17																	78882691		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78882691G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2482G>A	17.37:g.78882691G>A	ENSP00000307272:p.Asp828Asn					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D670N	p.D828N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			21	2844	+			828					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2482G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199824	0.38905	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.34275	1.37;1.37	4.77	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.063713	0.64402	D	0.000014	T	0.40815	0.1132	N	0.11927	0.2	0.80722	D	1	D;B	0.67145	0.996;0.026	D;B	0.76071	0.987;0.015	T	0.28586	-1.0039	10	0.17369	T	0.5	.	17.7606	0.88463	0.0:0.0:1.0:0.0	.	670;828	F5H7J5;Q8N122	.;RPTOR_HUMAN	N	828;670	ENSP00000307272:D828N;ENSP00000442479:D670N	ENSP00000307272:D828N	D	+	1	0	RPTOR	76497286	1.000000	0.71417	0.035000	0.18076	0.004000	0.04260	8.992000	0.93519	2.363000	0.80096	0.585000	0.79938	GAC		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		19	346	0	0	0	1	0	19	346				
DNAH5	1767	broad.mit.edu	37	5	13701416	13701416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:13701416C>T	ENST00000265104.4	-	77	13572	c.13468G>A	c.(13468-13470)Gga>Aga	p.G4490R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTAAAAATCCCTGGGGGTTA	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13468-13470)Gga>Aga		dynein, axonemal, heavy chain 5							76.0	83.0	81.0					5																	13701416		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13701416C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13468G>A	5.37:g.13701416C>T	ENSP00000265104:p.Gly4490Arg						p.G4490R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			77	13572	-	Lung NSC(4;0.00476)		4490					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13468G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364659	0.95877	.	.	ENSG00000039139	ENST00000265104	T	0.08896	3.04	5.78	5.78	0.91487	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68168	-0.5480	10	0.87932	D	0	.	19.9987	0.97401	0.0:1.0:0.0:0.0	.	4490	Q8TE73	DYH5_HUMAN	R	4490	ENSP00000265104:G4490R	ENSP00000265104:G4490R	G	-	1	0	DNAH5	13754416	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.800000	0.85949	2.738000	0.93877	0.591000	0.81541	GGA		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	146	0	0	0	1	0	15	146				
UHRF1BP1	54887	broad.mit.edu	37	6	34789448	34789448	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:34789448C>T	ENST00000192788.5	+	2	234	c.63C>T	c.(61-63)tcC>tcT	p.S21S	UHRF1BP1_ENST00000452449.2_Silent_p.S21S|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	21							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAATCTTTCCCCAGACAAAA	0.443																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(61-63)tcC>tcT		UHRF1 binding protein 1							43.0	44.0	44.0					6																	34789448		1861	4105	5966	SO:0001819	synonymous_variant	54887							g.chr6:34789448C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.63C>T	6.37:g.34789448C>T						UHRF1BP1_ENST00000452449.2_Silent_p.S21S	p.S21S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			2	234	+			21					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.63C>T	CCDS43455.1																																																																																				0.443	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		4	66	0	0	0	1	0	4	66				
LRRC7	57554	broad.mit.edu	37	1	70504289	70504289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:70504289C>T	ENST00000035383.5	+	19	2698	c.2668C>T	c.(2668-2670)Cca>Tca	p.P890S	LRRC7_ENST00000310961.5_Missense_Mutation_p.P895S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P174S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	890						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCTTTTTCTCCAGGCGTACC	0.433																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2683-2685)Cca>Tca		leucine rich repeat containing 7							72.0	74.0	73.0					1																	70504289		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504289C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2668C>T	1.37:g.70504289C>T	ENSP00000035383:p.Pro890Ser					LRRC7_ENST00000035383.5_Missense_Mutation_p.P890S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P174S	p.P895S			Q96NW7	LRRC7_HUMAN			22	3101	+			890					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2683C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	0.993	-0.693290	0.03303	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39056	1.1;1.19;2.32	5.92	4.91	0.64330	.	0.216099	0.38436	N	0.001682	T	0.08802	0.0218	N	0.10874	0.06	0.35683	D	0.81426	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.17349	-1.0372	10	0.10377	T	0.69	.	8.6865	0.34240	0.0:0.811:0.0:0.189	.	174;890;890	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	895;890;174;713	ENSP00000309245:P895S;ENSP00000035383:P890S;ENSP00000394867:P174S	ENSP00000035383:P890S	P	+	1	0	LRRC7	70276877	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	2.304000	0.43655	2.809000	0.96659	0.467000	0.42956	CCA		0.433	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		9	142	0	0	0	1	0	9	142				
ITGA2	3673	broad.mit.edu	37	5	52361760	52361760	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:52361760C>T	ENST00000296585.5	+	15	2039	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	632					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGGGGATTCCATCACCGATG	0.448																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1894-1896)tcC>tcT		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							160.0	149.0	153.0					5																	52361760		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52361760C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1896C>T	5.37:g.52361760C>T							p.S632S	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			15	2039	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	632					Q14595	Silent	SNP	ENST00000296585.5	37	c.1896C>T	CCDS3957.1																																																																																				0.448	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		13	123	0	0	0	1	0	13	123				
MACROD2	140733	broad.mit.edu	37	20	14066323	14066323	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:14066323C>T	ENST00000310348.4	+	3	220	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	MACROD2_ENST00000217246.4_Missense_Mutation_p.L74F			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	74	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAAGTTTCTCTCTATAGAGG	0.313																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(220-222)Ctc>Ttc		MACRO domain containing 2							80.0	76.0	77.0					20																	14066323		1819	4068	5887	SO:0001583	missense	140733							g.chr20:14066323C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.220C>T	20.37:g.14066323C>T	ENSP00000309809:p.Leu74Phe					MACROD2_ENST00000310348.4_Missense_Mutation_p.L74F	p.L74F	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			3	615	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	74			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.220C>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925031	0.73213	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.25749	1.78;1.78	5.97	5.97	0.96955	Appr-1-p processing (2);	0.160370	0.42172	D	0.000758	T	0.51584	0.1683	M	0.67953	2.075	0.80722	D	1	D;P	0.89917	1.0;0.934	D;P	0.87578	0.998;0.454	T	0.44329	-0.9335	10	0.56958	D	0.05	-6.1337	17.9263	0.88985	0.0:1.0:0.0:0.0	.	74;74	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	F	74	ENSP00000217246:L74F;ENSP00000309809:L74F	ENSP00000217246:L74F	L	+	1	0	MACROD2	14014323	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.209000	0.65208	2.833000	0.97629	0.585000	0.79938	CTC		0.313	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		7	54	0	0	0	1	0	7	54				
BRSK1	84446	broad.mit.edu	37	19	55816854	55816854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55816854G>A	ENST00000309383.1	+	16	2067	c.1790G>A	c.(1789-1791)gGg>gAg	p.G597E	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G613E|BRSK1_ENST00000326848.7_Missense_Mutation_p.G292E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	597					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTGGTTCGGGAACTTCATC	0.537																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1789-1791)gGg>gAg		BR serine/threonine kinase 1							139.0	145.0	143.0					19																	55816854		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55816854G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1790G>A	19.37:g.55816854G>A	ENSP00000310649:p.Gly597Glu					BRSK1_ENST00000326848.7_Missense_Mutation_p.G292E|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G613E	p.G597E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	16	2067	+		Renal(1328;0.245)	597					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1790G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.176880	0.78564	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.80123	-1.34;1.23	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90708	0.4625	10	0.87932	D	0	.	17.289	0.87150	0.0:0.0:1.0:0.0	.	597;613	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	E	597;292;292	ENSP00000310649:G597E;ENSP00000320853:G292E	ENSP00000310649:G597E	G	+	2	0	BRSK1	60508666	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.168000	0.94781	2.462000	0.83206	0.555000	0.69702	GGG		0.537	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		11	237	0	0	0	1	0	11	237				
PLD1	5337	broad.mit.edu	37	3	171338243	171338243	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:171338243G>A	ENST00000351298.4	-	24	2787	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Silent_p.N849N|PLD1_ENST00000340989.4_Silent_p.N887N	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	887	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGTTACTAGGTTTCCTTCGA	0.313																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2545-2547)aaC>aaT		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						131.0	126.0	128.0					3																	171338243		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171338243G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2661C>T	3.37:g.171338243G>A						PLD1_ENST00000351298.4_Silent_p.N887N|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Silent_p.N887N	p.N849N	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	2617	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		887			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.2547C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	0.347	-0.947136	0.02304	.	.	ENSG00000075651	ENST00000446289	.	.	.	5.5	2.76	0.32466	.	.	.	.	.	T	0.47116	0.1428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-13.0721	4.3102	0.10967	0.3143:0.0:0.5016:0.1841	.	.	.	.	I	150	.	.	T	-	2	0	PLD1	172820937	1.000000	0.71417	0.955000	0.39395	0.103000	0.19146	0.817000	0.27281	0.298000	0.22638	-0.339000	0.08088	ACC		0.313	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		9	116	0	0	0	1	0	9	116				
SOAT2	8435	broad.mit.edu	37	12	53514638	53514638	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53514638C>T	ENST00000301466.3	+	11	1168	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	370					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TGCCGAGATGCTACGATTTGG	0.567																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(1108-1110)Cta>Tta		sterol O-acyltransferase 2							184.0	148.0	160.0					12																	53514638		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53514638C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1108C>T	12.37:g.53514638C>T							p.L370L	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			11	1168	+			370					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1108C>T	CCDS8847.1																																																																																				0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			6	113	0	0	0	1	0	6	113				
MYH6	4624	broad.mit.edu	37	14	23863409	23863409	+	Missense_Mutation	SNP	C	C	T	rs373248520		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:23863409C>T	ENST00000356287.3	-	20	2582	c.2553G>A	c.(2551-2553)atG>atA	p.M851I	MYH6_ENST00000405093.3_Missense_Mutation_p.M851I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	851					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCATGGTGGCCATCTCCTTCT	0.577																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2551-2553)atG>atA		myosin, heavy chain 6, cardiac muscle, alpha		C	ILE/MET	0,4406		0,0,2203	133.0	118.0	123.0		2553	4.6	1.0	14		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	10	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	851/1940	23863409	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863409C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2553G>A	14.37:g.23863409C>T	ENSP00000348634:p.Met851Ile					MYH6_ENST00000356287.3_Missense_Mutation_p.M851I	p.M851I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2623	-	all_cancers(95;2.54e-05)		851					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2553G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	17.09	3.301366	0.60195	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82711	-1.64;-1.64	4.57	4.57	0.56435	.	.	.	.	.	T	0.77432	0.4129	L	0.41824	1.3	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.71958	-0.4435	9	0.24483	T	0.36	.	17.7489	0.88428	0.0:1.0:0.0:0.0	.	851	P13533	MYH6_HUMAN	I	851	ENSP00000386041:M851I;ENSP00000348634:M851I	ENSP00000348634:M851I	M	-	3	0	MYH6	22933249	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.597000	0.82733	2.274000	0.75844	0.555000	0.69702	ATG		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			6	82	0	0	0	1	0	6	82				
GPR125	166647	broad.mit.edu	37	4	22414906	22414906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:22414906C>A	ENST00000334304.5	-	14	2400	c.2131G>T	c.(2131-2133)Gga>Tga	p.G711*	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	711	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.G711*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCCTTGTCCGTTCAGCAAA	0.453																																						ENST00000334304.5																			1	Substitution - Nonsense(1)	p.G711*(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2131-2133)Gga>Tga		G protein-coupled receptor 125							174.0	171.0	172.0					4																	22414906		2203	4300	6503	SO:0001587	stop_gained	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414906C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2131G>T	4.37:g.22414906C>A	ENSP00000334952:p.Gly711*					GPR125_ENST00000282943.5_5'UTR	p.G711*	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2400	-		Breast(46;0.198)	711			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	ENST00000334304.5	37	c.2131G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	44	10.755961	0.99462	.	.	ENSG00000152990	ENST00000334304	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.0376	20.1991	0.98252	0.0:1.0:0.0:0.0	.	.	.	.	X	711	.	ENSP00000334952:G711X	G	-	1	0	GPR125	22024004	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.642000	0.67888	2.775000	0.95449	0.650000	0.86243	GGA		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			19	210	1	0	3.51602e-12	1	3.61104e-12	19	210				
PCSK2	5126	broad.mit.edu	37	20	17446184	17446184	+	Silent	SNP	C	C	T	rs547514355		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:17446184C>T	ENST00000262545.2	+	11	1731	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	PCSK2_ENST00000377899.1_Silent_p.S453S|PCSK2_ENST00000536609.1_Silent_p.S437S|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGGAGGCTCCGTGCAGGACC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18961	0.0		0.0	False		,,,				2504	0.001					ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1414-1416)tcC>tcT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						53.0	51.0	52.0					20																	17446184		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446184C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1416C>T	20.37:g.17446184C>T						PCSK2_ENST00000536609.1_Silent_p.S437S|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.S453S	p.S472S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1731	+			472					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1416C>T	CCDS13125.1																																																																																				0.542	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		8	30	0	0	0	1	0	8	30				
RGS22	26166	broad.mit.edu	37	8	101059788	101059788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:101059788G>A	ENST00000360863.6	-	11	1920	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	RGS22_ENST00000523287.1_Missense_Mutation_p.P395S|RGS22_ENST00000523437.1_Missense_Mutation_p.P564S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	576					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GATTTATTGGGAGATTTAGGA	0.383																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1726-1728)Ccc>Tcc		regulator of G-protein signaling 22							126.0	115.0	119.0					8																	101059788		1819	4076	5895	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101059788G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1726C>T	8.37:g.101059788G>A	ENSP00000354109:p.Pro576Ser					RGS22_ENST00000523287.1_Missense_Mutation_p.P395S|RGS22_ENST00000523437.1_Missense_Mutation_p.P564S	p.P576S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		11	1920	-			576					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1726C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.245183	0.01481	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.28895	1.59;1.59;1.59	3.78	-0.16	0.13375	.	0.867147	0.10042	N	0.723310	T	0.19287	0.0463	L	0.43152	1.355	0.21184	N	0.999763	B;B;B	0.29432	0.244;0.244;0.089	B;B;B	0.29785	0.107;0.107;0.046	T	0.32268	-0.9913	10	0.05620	T	0.96	.	5.4725	0.16678	0.2911:0.1498:0.5591:0.0	.	564;576;395	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	S	576;564;395;564	ENSP00000354109:P576S;ENSP00000429382:P395S;ENSP00000428212:P564S	ENSP00000354109:P576S	P	-	1	0	RGS22	101128964	0.984000	0.35163	0.974000	0.42286	0.008000	0.06430	0.105000	0.15333	-0.284000	0.09102	-1.579000	0.00862	CCC		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		20	105	0	0	0	1	0	20	105				
SEMA6D	80031	broad.mit.edu	37	15	48056928	48056928	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:48056928C>T	ENST00000316364.5	+	12	1630	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SEMA6D_ENST00000558816.1_Silent_p.P397P|SEMA6D_ENST00000536845.2_Silent_p.P397P|SEMA6D_ENST00000558014.1_Silent_p.P397P|SEMA6D_ENST00000389425.3_Silent_p.P397P|SEMA6D_ENST00000354744.4_Silent_p.P397P|SEMA6D_ENST00000355997.3_Silent_p.P397P|SEMA6D_ENST00000389428.3_Silent_p.P397P|SEMA6D_ENST00000537942.1_Silent_p.P397P|SEMA6D_ENST00000358066.4_Silent_p.P397P|SEMA6D_ENST00000389433.2_Silent_p.P397P|SEMA6D_ENST00000389432.2_Silent_p.P397P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	397	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCTCATCCCCTGATGGACT	0.498																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1189-1191)ccC>ccT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							92.0	88.0	89.0					15																	48056928		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056928C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1191C>T	15.37:g.48056928C>T						SEMA6D_ENST00000358066.4_Silent_p.P397P|SEMA6D_ENST00000389432.2_Silent_p.P397P|SEMA6D_ENST00000558014.1_Silent_p.P397P|SEMA6D_ENST00000355997.3_Silent_p.P397P|SEMA6D_ENST00000389428.3_Silent_p.P397P|SEMA6D_ENST00000537942.1_Silent_p.P397P|SEMA6D_ENST00000389433.2_Silent_p.P397P|SEMA6D_ENST00000354744.4_Silent_p.P397P|SEMA6D_ENST00000389425.3_Silent_p.P397P|SEMA6D_ENST00000536845.2_Silent_p.P397P|SEMA6D_ENST00000558816.1_Silent_p.P397P	p.P397P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	12	1630	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	397			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.1191C>T	CCDS32225.1																																																																																				0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		6	82	0	0	0	1	0	6	82				
UBR5	51366	broad.mit.edu	37	8	103324678	103324678	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:103324678T>C	ENST00000520539.1	-	17	2649	c.2043A>G	c.(2041-2043)aaA>aaG	p.K681K	UBR5_ENST00000220959.4_Silent_p.K681K|UBR5_ENST00000521922.1_Silent_p.K675K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	681					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCCTGGAAATTTTACAGCAA	0.383																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2041-2043)aaA>aaG		ubiquitin protein ligase E3 component n-recognin 5							111.0	107.0	109.0					8																	103324678		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103324678T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2043A>G	8.37:g.103324678T>C						UBR5_ENST00000220959.4_Silent_p.K681K|UBR5_ENST00000521922.1_Silent_p.K675K	p.K681K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		17	2649	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		681					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.2043A>G	CCDS34933.1																																																																																				0.383	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		6	128	0	0	0	1	0	6	128				
ABCA4	24	broad.mit.edu	37	1	94546075	94546075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:94546075G>A	ENST00000370225.3	-	8	1144	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ABCA4_ENST00000535735.1_Missense_Mutation_p.S353F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	353					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTCCTTGTGGAGTCAATCCC	0.453																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1057-1059)tCc>tTc		ATP-binding cassette, sub-family A (ABC1), member 4							105.0	110.0	109.0					1																	94546075		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94546075G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1058C>T	1.37:g.94546075G>A	ENSP00000359245:p.Ser353Phe					ABCA4_ENST00000535735.1_Missense_Mutation_p.S353F	p.S353F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	8	1144	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	353					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1058C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570076	0.45798	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91631	-2.76;-2.88	5.12	5.12	0.69794	.	0.423693	0.26300	N	0.025173	D	0.93184	0.7829	M	0.68952	2.095	0.23533	N	0.997478	D;P	0.57571	0.98;0.661	P;B	0.61592	0.891;0.17	D	0.88169	0.2863	10	0.56958	D	0.05	.	15.1503	0.72692	0.0:0.1415:0.8585:0.0	.	353;353	F5H6E5;P78363	.;ABCA4_HUMAN	F	353	ENSP00000359245:S353F;ENSP00000437682:S353F	ENSP00000359245:S353F	S	-	2	0	ABCA4	94318663	0.976000	0.34144	0.942000	0.38095	0.797000	0.45037	2.329000	0.43876	2.656000	0.90262	0.650000	0.86243	TCC		0.453	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		8	160	0	0	0	1	0	8	160				
ATP10A	57194	broad.mit.edu	37	15	25925294	25925294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:25925294C>T	ENST00000356865.6	-	20	3951	c.3840G>A	c.(3838-3840)atG>atA	p.M1280I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1280					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACAGGCGTCATCAGGCAAG	0.557																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3838-3840)atG>atA		ATPase, class V, type 10A							146.0	132.0	136.0					15																	25925294		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925294C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3840G>A	15.37:g.25925294C>T	ENSP00000349325:p.Met1280Ile						p.M1280I	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3951	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1280					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3840G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	1.683	-0.505951	0.04261	.	.	ENSG00000206190	ENST00000356865	T	0.34472	1.36	5.07	-3.61	0.04556	.	0.536772	0.20837	N	0.084768	T	0.06690	0.0171	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41016	-0.9532	10	0.18710	T	0.47	-1.4508	6.8505	0.24012	0.0:0.3648:0.3105:0.3248	.	1280	O60312	AT10A_HUMAN	I	1280	ENSP00000349325:M1280I	ENSP00000349325:M1280I	M	-	3	0	ATP10A	23476387	0.985000	0.35326	0.000000	0.03702	0.016000	0.09150	0.363000	0.20301	-0.598000	0.05806	-0.302000	0.09304	ATG		0.557	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		8	184	0	0	0	1	0	8	184				
CC2D1B	200014	broad.mit.edu	37	1	52828415	52828415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:52828415C>T	ENST00000371586.2	-	3	211	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.G25R|CC2D1B_ENST00000460261.1_5'Flank	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	25						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ATAAAGAGCCCCATCTGAGAG	0.577																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(73-75)Ggg>Agg		coiled-coil and C2 domain containing 1B							108.0	111.0	110.0					1																	52828415		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52828415C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.73G>A	1.37:g.52828415C>T	ENSP00000360642:p.Gly25Arg					CC2D1B_ENST00000284376.3_Missense_Mutation_p.G25R|CC2D1B_ENST00000438831.1_5'UTR	p.G25R	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			3	211	-			25					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.73G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470337	0.84533	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575	T;T	0.26067	1.76;1.76	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58814	-0.7570	10	0.87932	D	0	-28.3843	14.8163	0.70036	0.0:1.0:0.0:0.0	.	25	Q5T0F9	C2D1B_HUMAN	R	25	ENSP00000360642:G25R;ENSP00000284376:G25R	ENSP00000284376:G25R	G	-	1	0	CC2D1B	52601003	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.136000	0.71703	2.505000	0.84491	0.655000	0.94253	GGG		0.577	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		9	176	0	0	0	1	0	9	176				
DISP1	84976	broad.mit.edu	37	1	223178808	223178808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:223178808C>T	ENST00000284476.6	+	8	4233	c.4069C>T	c.(4069-4071)Ctc>Ttc	p.L1357F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1357					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAATTTTTTCCTCCACCCAGT	0.512																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4069-4071)Ctc>Ttc		dispatched homolog 1 (Drosophila)							45.0	47.0	46.0					1																	223178808		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178808C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4069C>T	1.37:g.223178808C>T	ENSP00000284476:p.Leu1357Phe						p.L1357F	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4233	+			1357					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4069C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	8.904	0.956975	0.18507	.	.	ENSG00000154309	ENST00000284476	D	0.95205	-3.64	5.95	5.95	0.96441	.	0.168607	0.42294	N	0.000735	D	0.92857	0.7728	L	0.36672	1.1	0.31990	N	0.604798	P	0.47409	0.895	P	0.45037	0.467	D	0.93910	0.7196	10	0.72032	D	0.01	-20.5018	18.5737	0.91147	0.0:1.0:0.0:0.0	.	1357	Q96F81	DISP1_HUMAN	F	1357	ENSP00000284476:L1357F	ENSP00000284476:L1357F	L	+	1	0	DISP1	221245431	0.476000	0.25901	0.059000	0.19551	0.016000	0.09150	0.844000	0.27654	2.824000	0.97209	0.655000	0.94253	CTC		0.512	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	74	0	0	0	1	0	4	74				
DNAJC21	134218	broad.mit.edu	37	5	34941270	34941270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:34941270C>T	ENST00000342382.4	+	7	1192	c.965C>T	c.(964-966)tCg>tTg	p.S322L	DNAJC21_ENST00000382021.2_Missense_Mutation_p.S322L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.S322L			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	322	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTGACAAATCGTTCAAGACA	0.443																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(964-966)tCg>tTg		DnaJ (Hsp40) homolog, subfamily C, member 21							79.0	79.0	79.0					5																	34941270		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34941270C>T		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.965C>T	5.37:g.34941270C>T	ENSP00000343728:p.Ser322Leu					DNAJC21_ENST00000303525.7_Missense_Mutation_p.S322L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.S322L	p.S322L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1192	+	all_lung(31;7.08e-05)		322			Glu-rich.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.965C>T	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995248	0.35226	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.44482	0.93;0.92;0.92	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.178665	0.56097	D	0.000036	T	0.32133	0.0819	L	0.47716	1.5	0.47009	D	0.999281	B;B;B	0.31769	0.171;0.048;0.339	B;B;B	0.23150	0.023;0.021;0.044	T	0.07083	-1.0791	10	0.29301	T	0.29	-17.9437	10.4215	0.44352	0.0:0.8508:0.0:0.1492	.	322;322;322	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	L	322	ENSP00000343728:S322L;ENSP00000371451:S322L;ENSP00000306289:S322L	ENSP00000306289:S322L	S	+	2	0	DNAJC21	34977027	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	2.860000	0.48372	2.880000	0.98712	0.650000	0.86243	TCG		0.443	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		14	83	0	0	0	1	0	14	83				
SLC16A14	151473	broad.mit.edu	37	2	230911030	230911030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:230911030G>A	ENST00000295190.4	-	4	1270	c.812C>T	c.(811-813)gCc>gTc	p.A271V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTGTGCCCGGCCTGATCGGG	0.587																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(811-813)gCc>gTc		solute carrier family 16, member 14							94.0	96.0	95.0					2																	230911030		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911030G>A	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.812C>T	2.37:g.230911030G>A	ENSP00000295190:p.Ala271Val						p.A271V	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1270	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	271					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.812C>T	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	3.207	-0.162458	0.06502	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08546	3.1;3.08;3.08	4.8	1.77	0.24775	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.832850	0.00751	N	0.001061	T	0.06371	0.0164	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.004	T	0.32824	-0.9892	10	0.25751	T	0.34	.	3.665	0.08253	0.1633:0.1335:0.5663:0.1369	.	271;271	E7EMG7;Q7RTX9	.;MOT14_HUMAN	V	271	ENSP00000295190:A271V;ENSP00000400352:A271V;ENSP00000395775:A271V	ENSP00000295190:A271V	A	-	2	0	SLC16A14	230619274	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	0.396000	0.20867	0.623000	0.30267	0.561000	0.74099	GCC		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		11	169	0	0	0	1	0	11	169				
A2ML1	144568	broad.mit.edu	37	12	9001443	9001443	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:9001443C>T	ENST00000299698.7	+	16	2141	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S163L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAAGGGCATTCGAGCCAGCGT	0.527																																						ENST00000299698.7																			1	Substitution - Missense(1)	p.S654L(1)	endometrium(1)	NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1960-1962)tCg>tTg		alpha-2-macroglobulin-like 1							208.0	189.0	195.0					12																	9001443		1961	4153	6114	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001443C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1961C>T	12.37:g.9001443C>T	ENSP00000299698:p.Ser654Leu					A2ML1_ENST00000539547.1_Missense_Mutation_p.S163L	p.S654L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			16	2141	+			498						Missense_Mutation	SNP	ENST00000299698.7	37	c.1961C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	1.836	-0.468614	0.04445	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.32023	1.47;1.61;2.15;1.51	2.84	-1.76	0.08006	.	7739.210000	0.00166	N	0.000000	T	0.17238	0.0414	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15093	-1.0449	10	0.12103	T	0.63	.	7.144	0.25573	0.0:0.4521:0.3997:0.1482	.	654	A8K2U0	A2ML1_HUMAN	L	654;654;204;163;166	ENSP00000299698:S654L;ENSP00000443174:S204L;ENSP00000438292:S163L;ENSP00000440057:S166L	ENSP00000299698:S654L	S	+	2	0	A2ML1	8892710	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	-0.168000	0.09925	-0.396000	0.07703	-0.518000	0.04402	TCG		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		13	348	0	0	0	1	0	13	348				
ARHGAP10	79658	broad.mit.edu	37	4	148984409	148984409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:148984409C>T	ENST00000336498.3	+	21	2377	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCCCCTTTCCCCTTTTCTCCT	0.547																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2137-2139)cCc>cTc		Rho GTPase activating protein 10							144.0	101.0	115.0					4																	148984409		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148984409C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2138C>T	4.37:g.148984409C>T	ENSP00000336923:p.Pro713Leu					ARHGAP10_ENST00000414545.2_Intron	p.P713L	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	21	2377	+	all_hematologic(180;0.151)	Renal(17;0.0166)	713					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.2138C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	8.436	0.849697	0.17034	.	.	ENSG00000071205	ENST00000336498	T	0.10763	2.84	5.43	2.77	0.32553	Src homology-3 domain (1);	0.550372	0.20457	N	0.091971	T	0.12646	0.0307	M	0.67953	2.075	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28396	-1.0045	10	0.23302	T	0.38	.	11.0937	0.48132	0.0:0.7732:0.0:0.2268	.	146;294;713	Q9H7G7;Q86T21;A1A4S6	.;.;RHG10_HUMAN	L	713	ENSP00000336923:P713L	ENSP00000336923:P713L	P	+	2	0	ARHGAP10	149203859	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.473000	0.22132	0.030000	0.15379	-1.644000	0.00765	CCC		0.547	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	55	0	0	0	1	0	4	55				
MAP3K19	80122	broad.mit.edu	37	2	135756431	135756431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:135756431C>T	ENST00000375845.3	-	5	481	c.451G>A	c.(451-453)Gag>Aag	p.E151K	MAP3K19_ENST00000392917.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E168K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E151K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	151							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTGCAGAGCTCCCTGGAACTT	0.423																																						ENST00000375845.3																			0											c.(451-453)Gag>Aag		mitogen-activated protein kinase kinase kinase 19							81.0	83.0	82.0					2																	135756431		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135756431C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.451G>A	2.37:g.135756431C>T	ENSP00000365005:p.Glu151Lys					MAP3K19_ENST00000392915.1_Missense_Mutation_p.E168K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000315513.3_5'UTR	p.E151K	NM_025052.3	NP_079328.3					5	481	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.451G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321815	0.41096	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.72725	-0.68;-0.63;-0.67;-0.52;1.69	5.19	2.27	0.28462	.	0.167242	0.28431	N	0.015372	T	0.65037	0.2653	M	0.64997	1.995	0.19575	N	0.999969	B;D;B;D;B;B	0.56035	0.295;0.974;0.419;0.974;0.419;0.022	B;B;B;B;B;B	0.44044	0.081;0.439;0.168;0.439;0.168;0.03	T	0.59069	-0.7523	10	0.52906	T	0.07	.	7.3323	0.26590	0.3249:0.4971:0.178:0.0	.	151;151;151;168;151;151	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	K	151;151;151;151;168	ENSP00000365005:E151K;ENSP00000365004:E151K;ENSP00000376650:E151K;ENSP00000376649:E151K;ENSP00000376647:E168K	ENSP00000365004:E151K	E	-	1	0	YSK4	135472901	0.000000	0.05858	0.211000	0.23655	0.132000	0.20833	0.091000	0.15046	0.768000	0.33290	0.609000	0.83330	GAG		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		8	108	0	0	0	1	0	8	108				
MMRN1	22915	broad.mit.edu	37	4	90856924	90856924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:90856924G>A	ENST00000394980.1	+	7	2412	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K	MMRN1_ENST00000508372.1_Missense_Mutation_p.R440K|MMRN1_ENST00000264790.2_Missense_Mutation_p.R698K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	698					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTACAAAAAGACACAACTTA	0.333																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2092-2094)aGa>aAa		multimerin 1							60.0	61.0	61.0					4																	90856924		2201	4295	6496	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856924G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2093G>A	4.37:g.90856924G>A	ENSP00000378431:p.Arg698Lys					MMRN1_ENST00000508372.1_Missense_Mutation_p.R440K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R698K	p.R698K			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2412	+		Hepatocellular(203;0.114)	698					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2093G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	8.943	0.966323	0.18659	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.64991	0.21;0.21;-0.13	5.2	2.54	0.30619	.	0.506881	0.21864	N	0.067996	T	0.43100	0.1232	L	0.35723	1.085	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.14117	-1.0484	10	0.08179	T	0.78	.	6.325	0.21239	0.2982:0.1346:0.5672:0.0	.	698	Q13201	MMRN1_HUMAN	K	698;698;440	ENSP00000378431:R698K;ENSP00000264790:R698K;ENSP00000426461:R440K	ENSP00000264790:R698K	R	+	2	0	MMRN1	91075947	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	1.148000	0.31614	0.418000	0.25898	0.655000	0.94253	AGA		0.333	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	84	0	0	0	1	0	7	84				
ZFPM2	23414	broad.mit.edu	37	8	106813734	106813734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:106813734C>T	ENST00000407775.2	+	8	1674	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S206F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	475					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGAGCCCTCTAGCCCAAGA	0.443																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1423-1425)tCt>tTt		zinc finger protein, FOG family member 2							90.0	95.0	94.0					8																	106813734		1874	4096	5970	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813734C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1424C>T	8.37:g.106813734C>T	ENSP00000384179:p.Ser475Phe					ZFPM2_ENST00000520492.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S206F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	p.S475F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1674	+			475					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1424C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748862	0.69533	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.27890	1.64;2.15;2.15;3.35	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.50491	-0.8822	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	475	Q8WW38	FOG2_HUMAN	F	475;343;343;206	ENSP00000384179:S475F;ENSP00000430757:S343F;ENSP00000428720:S343F;ENSP00000367733:S206F	ENSP00000367733:S206F	S	+	2	0	ZFPM2	106882910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.089000	0.71384	2.836000	0.97738	0.655000	0.94253	TCT		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			13	134	0	0	0	1	0	13	134				
HDAC10	83933	broad.mit.edu	37	22	50686181	50686181	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:50686181C>T	ENST00000216271.5	-	14	1714	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Silent_p.E434E|HDAC10_ENST00000448072.1_Silent_p.E404E	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	454					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGGCCTCCTCCCGGGCCA	0.622																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1360-1362)gaG>gaA		histone deacetylase 10							96.0	75.0	82.0					22																	50686181		2203	4300	6503	SO:0001819	synonymous_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50686181C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1362G>A	22.37:g.50686181C>T						HDAC10_ENST00000349505.4_Silent_p.E434E|HDAC10_ENST00000448072.1_Silent_p.E404E|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.E454E	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	1714	-		all_cancers(38;5.78e-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)	454					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	37	c.1362G>A	CCDS14088.1																																																																																				0.622	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		10	80	0	0	0	1	0	10	80				
OR8K1	390157	broad.mit.edu	37	11	56113974	56113974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56113974C>T	ENST00000279783.2	+	1	554	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGTAATTGTTCCCTATCTCTA	0.398										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(460-462)Ccc>Tcc		olfactory receptor, family 8, subfamily K, member 1							197.0	198.0	198.0					11																	56113974		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113974C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.460C>T	11.37:g.56113974C>T	ENSP00000279783:p.Pro154Ser	HNSCC(65;0.19)					p.P154S	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	554	+	Esophageal squamous(21;0.00448)		154					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.460C>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331945	0.10956	.	.	ENSG00000150261	ENST00000279783	T	0.34667	1.35	5.0	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.130126	0.35291	N	0.003311	T	0.06917	0.0176	N	0.00525	-1.395	0.09310	N	1	B	0.26081	0.141	B	0.27887	0.084	T	0.33059	-0.9883	10	0.02654	T	1	-9.7962	1.0984	0.01678	0.1399:0.3501:0.2487:0.2613	.	154	Q8NGG5	OR8K1_HUMAN	S	154	ENSP00000279783:P154S	ENSP00000279783:P154S	P	+	1	0	OR8K1	55870550	0.000000	0.05858	0.021000	0.16686	0.230000	0.25150	-0.121000	0.10643	0.503000	0.28060	0.549000	0.68633	CCC		0.398	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		15	275	0	0	0	1	0	15	275				
KIAA1244	57221	broad.mit.edu	37	6	138655329	138655329	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:138655329G>A	ENST00000251691.4	+	33	5512	c.5346G>A	c.(5344-5346)agG>agA	p.R1782R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGACTGCCAGGGAGTTTGACA	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5344-5346)agG>agA		KIAA1244							32.0	34.0	34.0					6																	138655329		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655329G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5346G>A	6.37:g.138655329G>A							p.R1782R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5512	+	Breast(32;0.135)		1782						Silent	SNP	ENST00000251691.4	37	c.5346G>A	CCDS5189.2																																																																																				0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		7	41	0	0	0	1	0	7	41				
FREM1	158326	broad.mit.edu	37	9	14808075	14808075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:14808075C>T	ENST00000380880.3	-	17	3734	c.2951G>A	c.(2950-2952)gGa>gAa	p.G984E	FREM1_ENST00000380881.4_Missense_Mutation_p.G985E|FREM1_ENST00000422223.2_Missense_Mutation_p.G984E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	984					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCAGCCTCTCCATCCGAAAC	0.458																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2953-2955)gGa>gAa		FRAS1 related extracellular matrix 1							125.0	135.0	132.0					9																	14808075		2034	4183	6217	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808075C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2951G>A	9.37:g.14808075C>T	ENSP00000370262:p.Gly984Glu					FREM1_ENST00000422223.2_Missense_Mutation_p.G984E|FREM1_ENST00000380880.3_Missense_Mutation_p.G984E	p.G985E			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3769	-			984					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2954G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	9.911	1.209658	0.22289	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10860	2.83;2.83;2.83	5.79	0.857	0.19025	.	0.783985	0.12631	N	0.452153	T	0.08582	0.0213	L	0.60067	1.865	0.29172	N	0.877047	B	0.09022	0.002	B	0.12837	0.008	T	0.46775	-0.9167	10	0.02654	T	1	-0.2404	5.7164	0.17962	0.0:0.3984:0.2343:0.3672	.	984	Q5H8C1	FREM1_HUMAN	E	985;984;984	ENSP00000370263:G985E;ENSP00000412940:G984E;ENSP00000370262:G984E	ENSP00000370257:G987E	G	-	2	0	FREM1	14798075	0.828000	0.29307	0.918000	0.36340	0.807000	0.45602	0.172000	0.16704	0.101000	0.17610	0.557000	0.71058	GGA		0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		25	125	0	0	0	1	0	25	125				
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						ENST00000391413.2																			5	Substitution - Missense(5)	p.R121K(5)	lung(2)|prostate(1)|kidney(1)|skin(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(361-363)aGa>aAa		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	400	-		Breast(137;0.000496)	121			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	67	0	0	0	1	0	7	67				
ARRDC5	645432	broad.mit.edu	37	19	4896812	4896812	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:4896812G>A	ENST00000381781.2	-	2	371	c.372C>T	c.(370-372)acC>acT	p.T124T		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	124										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAAATTTGCTGGTGAAGGTAG	0.448																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(370-372)acC>acT		arrestin domain containing 5							157.0	151.0	153.0					19																	4896812		1927	4145	6072	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4896812G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.372C>T	19.37:g.4896812G>A							p.T124T	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	371	-			124						Silent	SNP	ENST00000381781.2	37	c.372C>T	CCDS45929.1																																																																																				0.448	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		6	126	0	0	0	1	0	6	126				
OR2B6	26212	broad.mit.edu	37	6	27925718	27925718	+	Nonsense_Mutation	SNP	C	C	T	rs544975206		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:27925718C>T	ENST00000244623.1	+	1	700	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTGAAGGTCGACAAAAAGC	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19920	0.0		0.0	False		,,,				2504	0.0					ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(700-702)Cga>Tga		olfactory receptor, family 2, subfamily B, member 6							189.0	183.0	185.0					6																	27925718		2203	4300	6503	SO:0001587	stop_gained	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925718C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.700C>T	6.37:g.27925718C>T	ENSP00000244623:p.Arg234*						p.R234*	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	700	+			234					O43883|Q6IF89|Q9H5B0	Nonsense_Mutation	SNP	ENST00000244623.1	37	c.700C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.558395	0.27827	.	.	ENSG00000124657	ENST00000244623	.	.	.	3.55	-0.175	0.13315	.	0.000000	0.30949	U	0.008547	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1712	0.48573	0.5891:0.4109:0.0:0.0	.	.	.	.	X	234	.	ENSP00000244623:R234X	R	+	1	2	OR2B6	28033697	0.000000	0.05858	0.369000	0.25952	0.386000	0.30323	-1.638000	0.02013	-0.117000	0.11872	-0.470000	0.05040	CGA		0.453	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			9	210	0	0	0	1	0	9	210				
C4BPA	722	broad.mit.edu	37	1	207304950	207304950	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:207304950A>G	ENST00000367070.3	+	8	1143	c.949A>G	c.(949-951)Aca>Gca	p.T317A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	317	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCTAGGCCGACAAAAGAGGA	0.423																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(949-951)Aca>Gca		complement component 4 binding protein, alpha							175.0	126.0	142.0					1																	207304950		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207304950A>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.949A>G	1.37:g.207304950A>G	ENSP00000356037:p.Thr317Ala						p.T317A	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			8	1143	+			317			Sushi 5.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.949A>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	2.729	-0.264888	0.05754	.	.	ENSG00000123838	ENST00000367070	T	0.32753	1.44	3.96	0.257	0.15574	Complement control module (2);Sushi/SCR/CCP (3);	1.284460	0.05256	N	0.514954	T	0.22898	0.0553	L	0.46741	1.465	0.09310	N	1	B	0.22541	0.071	B	0.27262	0.078	T	0.23261	-1.0193	10	0.11485	T	0.65	.	1.23	0.01941	0.524:0.1903:0.1028:0.183	.	317	P04003	C4BPA_HUMAN	A	317	ENSP00000356037:T317A	ENSP00000356037:T317A	T	+	1	0	C4BPA	205371573	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.089000	0.30890	0.021000	0.15133	-0.313000	0.08912	ACA		0.423	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			5	69	0	0	0	1	0	5	69				
MAP1B	4131	broad.mit.edu	37	5	71482527	71482527	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:71482527C>T	ENST00000296755.7	+	4	754	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	152					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCTCATTCTCCAGTCCGGCT	0.493																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(454-456)ctC>ctT		microtubule-associated protein 1B							109.0	109.0	109.0					5																	71482527		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71482527C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.456C>T	5.37:g.71482527C>T							p.L152L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	754	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	152					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.456C>T	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	127	0	0	0	1	0	7	127				
FARSB	10056	broad.mit.edu	37	2	223478647	223478647	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:223478647C>T	ENST00000281828.6	-	15	1608	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	FARSB_ENST00000536361.1_Splice_Site_p.V350M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	449					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTGCGTGCCACCTACAGGAAA	0.443																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.e15-1		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						96.0	88.0	91.0					2																	223478647		2203	4300	6503	SO:0001630	splice_region_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223478647C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1345-1G>A	2.37:g.223478647C>T						FARSB_ENST00000536361.1_Splice_Site_p.V350_splice	p.V449_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	15	1608	-		Renal(207;0.0183)	449					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Splice_Site	SNP	ENST00000281828.6	37	c.1344_splice	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613555	0.87359	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.968;0.981	D	0.85672	0.1295	9	0.39692	T	0.17	-15.8823	19.3067	0.94165	0.0:1.0:0.0:0.0	.	449;449	A8K666;Q9NSD9	.;SYFB_HUMAN	M	449;350	.	ENSP00000281828:V449M	V	-	1	0	FARSB	223186891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.346000	0.79347	2.570000	0.86706	0.585000	0.79938	GTG		0.443	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	Missense_Mutation	4	77	0	0	0	1	0	4	77				
TCOF1	6949	broad.mit.edu	37	5	149759182	149759182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:149759182C>T	ENST00000504761.2	+	17	2746	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	TCOF1_ENST00000323668.7_Missense_Mutation_p.P839S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P916S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P916S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P916S|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000394269.3_Missense_Mutation_p.P916S|TCOF1_ENST00000451292.1_Missense_Mutation_p.P916S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P839S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	916					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAACACCTCCTGGGAAGAC	0.627																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(2746-2748)Cct>Tct		Treacher Collins-Franceschetti syndrome 1							59.0	68.0	65.0					5																	149759182		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149759182C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2746C>T	5.37:g.149759182C>T	ENSP00000421655:p.Pro916Ser					TCOF1_ENST00000323668.7_Missense_Mutation_p.P839S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P916S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P916S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P839S|TCOF1_ENST00000394269.3_Missense_Mutation_p.P916S|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000377797.3_Missense_Mutation_p.P916S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P916S	p.P916S			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2854	+		all_hematologic(541;0.224)	916					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.2746C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414788	0.42817	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-0.91;-1.18;-0.76	5.63	-1.19	0.09585	Treacher Collins syndrome, treacle (1);	0.323704	0.22780	N	0.055724	T	0.76407	0.3983	L	0.51914	1.62	0.09310	N	1	B;B;B;B;D;B;B	0.76494	0.027;0.264;0.041;0.264;0.999;0.041;0.11	B;B;B;B;D;B;B	0.72338	0.01;0.019;0.019;0.019;0.977;0.019;0.033	T	0.63699	-0.6578	10	0.29301	T	0.29	-0.1496	0.7697	0.01022	0.2682:0.3645:0.131:0.2364	.	425;916;839;916;916;839;916	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	S	916;916;839;839;916;916;916;916;916	ENSP00000400939:P916S;ENSP00000367028:P916S;ENSP00000409944:P839S;ENSP00000325223:P839S;ENSP00000406888:P916S;ENSP00000377811:P916S;ENSP00000390717:P916S;ENSP00000421655:P916S;ENSP00000427484:P916S	ENSP00000325223:P839S	P	+	1	0	TCOF1	149739375	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.172000	0.03112	-0.131000	0.11578	0.561000	0.74099	CCT		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		8	132	0	0	0	1	0	8	132				
ACACB	32	broad.mit.edu	37	12	109680255	109680255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:109680255C>T	ENST00000338432.7	+	37	5155	c.5036C>T	c.(5035-5037)tCc>tTc	p.S1679F	ACACB_ENST00000377848.3_Missense_Mutation_p.S1679F|ACACB_ENST00000543201.1_Missense_Mutation_p.S345F|ACACB_ENST00000377854.5_Missense_Mutation_p.S1609F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1679					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATGTTTCACTCCTTCGGCAAC	0.522																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5035-5037)tCc>tTc		acetyl-CoA carboxylase beta	Biotin(DB00121)						104.0	95.0	98.0					12																	109680255		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109680255C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5036C>T	12.37:g.109680255C>T	ENSP00000341044:p.Ser1679Phe					ACACB_ENST00000377848.3_Missense_Mutation_p.S1679F|ACACB_ENST00000543201.1_Missense_Mutation_p.S345F|ACACB_ENST00000377854.5_Missense_Mutation_p.S1609F	p.S1679F			O00763	ACACB_HUMAN			37	5155	+			1679					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5036C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999901	0.74818	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.1	5.1	0.69264	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.87269	2.87	0.80722	D	1	D	0.57571	0.98	D	0.63381	0.914	T	0.78224	-0.2287	10	0.87932	D	0	.	18.8998	0.92437	0.0:1.0:0.0:0.0	.	1679	O00763	ACACB_HUMAN	F	1679;1679;1609;910;345;4	ENSP00000341044:S1679F;ENSP00000367079:S1679F;ENSP00000367085:S1609F;ENSP00000444075:S345F	ENSP00000341044:S1679F	S	+	2	0	ACACB	108164638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.686000	0.84128	2.548000	0.85928	0.650000	0.86243	TCC		0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		5	113	0	0	0	1	0	5	113				
TRIP4	9325	broad.mit.edu	37	15	64716267	64716267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:64716267C>T	ENST00000261884.3	+	10	1456	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	RN7SL707P_ENST00000582206.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	466					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CCACAGAGGACGACTTTGGAT	0.458																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1396-1398)Cga>Tga		thyroid hormone receptor interactor 4							84.0	77.0	79.0					15																	64716267		2203	4300	6503	SO:0001587	stop_gained	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64716267C>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1396C>T	15.37:g.64716267C>T	ENSP00000261884:p.Arg466*						p.R466*	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			10	1456	+			466					B2RAS0|Q96ED7|Q9UKH0	Nonsense_Mutation	SNP	ENST00000261884.3	37	c.1396C>T	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375914	0.97515	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.8	2.47	0.30058	.	0.054428	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6916	16.7601	0.85509	0.4324:0.5676:0.0:0.0	.	.	.	.	X	466	.	ENSP00000261884:R466X	R	+	1	2	TRIP4	62503320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	0.749000	0.32854	0.563000	0.77884	CGA		0.458	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		8	76	0	0	0	1	0	8	76				
RECK	8434	broad.mit.edu	37	9	36122984	36122984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:36122984C>T	ENST00000377966.3	+	21	3424	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	953					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTTGCCACTCCCTCCTCCTT	0.592																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2857-2859)tCc>tTc		reversion-inducing-cysteine-rich protein with kazal motifs							147.0	116.0	126.0					9																	36122984		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36122984C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2858C>T	9.37:g.36122984C>T	ENSP00000367202:p.Ser953Phe						p.S953F	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		21	3424	+			953					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2858C>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	9.630	1.136284	0.21123	.	.	ENSG00000122707	ENST00000377966	T	0.46819	0.86	5.4	2.31	0.28768	.	1.089520	0.06862	N	0.799310	T	0.31482	0.0798	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25117	-1.0141	10	0.45353	T	0.12	-5.6943	3.1327	0.06429	0.1803:0.5421:0.1816:0.0959	.	953;953	A8K9D8;O95980	.;RECK_HUMAN	F	953	ENSP00000367202:S953F	ENSP00000367202:S953F	S	+	2	0	RECK	36112984	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.433000	0.21477	0.820000	0.34516	0.655000	0.94253	TCC		0.592	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			12	104	0	0	0	1	0	12	104				
SLC34A2	10568	broad.mit.edu	37	4	25676153	25676153	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:25676153G>A	ENST00000382051.3	+	12	1410	c.1360G>A	c.(1360-1362)Gct>Act	p.A454T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A453T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A453T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	454					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATTGAGAGGGCTTATCCACT	0.567			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1360-1362)Gct>Act		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							125.0	110.0	115.0					4																	25676153		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25676153G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1360G>A	4.37:g.25676153G>A	ENSP00000371483:p.Ala454Thr					SLC34A2_ENST00000503434.1_Missense_Mutation_p.A453T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A453T	p.A454T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			12	1410	+		Breast(46;0.0503)	454					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1360G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585010	0.86748	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.88586	-2.4;-2.4;-2.4	5.2	5.2	0.72013	.	0.106718	0.64402	D	0.000006	D	0.94348	0.8183	M	0.92026	3.265	0.54753	D	0.999984	P;P	0.51791	0.948;0.928	P;P	0.56700	0.804;0.791	D	0.94969	0.8115	10	0.59425	D	0.04	-2.9137	14.8797	0.70522	0.0:0.0:0.8477:0.1523	.	453;454	O95436-2;O95436	.;NPT2B_HUMAN	T	453;454;453	ENSP00000425501:A453T;ENSP00000371483:A454T;ENSP00000423021:A453T	ENSP00000371483:A454T	A	+	1	0	SLC34A2	25285251	1.000000	0.71417	0.975000	0.42487	0.725000	0.41563	5.625000	0.67770	2.596000	0.87737	0.561000	0.74099	GCT		0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		13	154	0	0	0	1	0	13	154				
MYT1	4661	broad.mit.edu	37	20	62839357	62839357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:62839357G>A	ENST00000328439.1	+	7	1172	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MYT1_ENST00000536311.1_Missense_Mutation_p.E270K|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaagaggaggaggagga	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(808-810)Gag>Aag		myelin transcription factor 1							20.0	20.0	20.0					20																	62839357		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839357G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.808G>A	20.37:g.62839357G>A	ENSP00000327465:p.Glu270Lys					MYT1_ENST00000328439.1_Missense_Mutation_p.E270K|MYT1_ENST00000360149.4_Intron	p.E270K			Q01538	MYT1_HUMAN			7	1172	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		270			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.808G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.614636	0.28712	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.73575	-0.76;-0.76	3.79	3.79	0.43588	.	0.475443	0.17403	U	0.175479	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	B	0.20052	0.041	B	0.16722	0.016	T	0.53767	-0.8392	10	0.41790	T	0.15	-0.749	12.0283	0.53384	0.0:0.1749:0.8251:0.0	.	270	Q01538	MYT1_HUMAN	K	270	ENSP00000327465:E270K;ENSP00000442412:E270K	ENSP00000327465:E270K	E	+	1	0	MYT1	62309801	0.976000	0.34144	0.022000	0.16811	0.041000	0.13682	3.705000	0.54823	1.856000	0.53863	0.552000	0.68991	GAG		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	23	0	0	0	1	0	5	23				
MUC16	94025	broad.mit.edu	37	19	9073129	9073129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9073129C>T	ENST00000397910.4	-	3	14520	c.14317G>A	c.(14317-14319)Gtt>Att	p.V4773I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4775	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACATAGAAACAGGAGAGGAG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14317-14319)Gtt>Att		mucin 16, cell surface associated							94.0	89.0	91.0					19																	9073129		2060	4193	6253	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073129C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14317G>A	19.37:g.9073129C>T	ENSP00000381008:p.Val4773Ile						p.V4773I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14520	-			4775			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14317G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.288	0.052713	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	1.32	-1.75	0.08031	.	.	.	.	.	T	0.13415	0.0325	N	0.24115	0.695	.	.	.	B	0.31174	0.311	B	0.19391	0.025	T	0.14420	-1.0473	8	0.87932	D	0	.	6.6441	0.22925	0.0:0.4279:0.5721:0.0	.	4773	B5ME49	.	I	4773	ENSP00000381008:V4773I	ENSP00000381008:V4773I	V	-	1	0	MUC16	8934129	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-2.272000	0.01165	-0.362000	0.08113	0.306000	0.20318	GTT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	102	0	0	0	1	0	7	102				
DLG5	9231	broad.mit.edu	37	10	79556324	79556324	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:79556324G>A	ENST00000372391.2	-	28	5198	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	DLG5_ENST00000372388.2_Silent_p.V1391V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1731	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCACCTTCTGGACCCGCTGAT	0.617																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(5191-5193)gtC>gtT		discs, large homolog 5 (Drosophila)							78.0	68.0	72.0					10																	79556324		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79556324G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5193C>T	10.37:g.79556324G>A						DLG5_ENST00000372388.2_Silent_p.V1391V|DLG5_ENST00000459739.1_5'UTR	p.V1731V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		28	5198	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1731			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.5193C>T	CCDS7353.2																																																																																				0.617	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			5	76	0	0	0	1	0	5	76				
ZMAT3	64393	broad.mit.edu	37	3	178742977	178742977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:178742977G>A	ENST00000311417.2	-	6	1439	c.698C>T	c.(697-699)cCa>cTa	p.P233L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232L	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CAGATCACGTGGAATTCTCTG	0.428																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(697-699)cCa>cTa		zinc finger, matrin-type 3							71.0	63.0	66.0					3																	178742977		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178742977G>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.698C>T	3.37:g.178742977G>A	ENSP00000311221:p.Pro233Leu					ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232L	p.P233L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		6	1439	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		233						Missense_Mutation	SNP	ENST00000311417.2	37	c.698C>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139629	0.94560	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.50277	0.75;0.77	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50915	-0.8771	10	0.22109	T	0.4	-34.0026	19.6182	0.95643	0.0:0.0:1.0:0.0	.	232;233	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	L	233;232	ENSP00000311221:P233L;ENSP00000396506:P232L	ENSP00000311221:P233L	P	-	2	0	ZMAT3	180225671	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.476000	0.97823	2.626000	0.88956	0.650000	0.86243	CCA		0.428	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		10	87	0	0	0	1	0	10	87				
AJAP1	55966	broad.mit.edu	37	1	4772086	4772086	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:4772086C>T	ENST00000378191.4	+	2	537	c.156C>T	c.(154-156)ctC>ctT	p.L52L	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.L52L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	52					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGTTCTGGCTCCTgccgcggt	0.741																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(154-156)ctC>ctT		adherens junctions associated protein 1							33.0	47.0	42.0					1																	4772086		2174	4265	6439	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772086C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.156C>T	1.37:g.4772086C>T						AJAP1_ENST00000378190.3_Silent_p.L52L|AJAP1_ENST00000466761.1_3'UTR	p.L52L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	537	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	52					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.156C>T	CCDS54.1																																																																																				0.741	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		11	197	0	0	0	1	0	11	197				
BARHL1	56751	broad.mit.edu	37	9	135458563	135458563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:135458563G>A	ENST00000263610.2	+	1	992	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	BARHL1_ENST00000542090.1_Missense_Mutation_p.G127S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	127					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TGAGCCTGGGGGCCGCCTTGC	0.607																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(379-381)Ggc>Agc		BarH-like homeobox 1							29.0	39.0	35.0					9																	135458563		2187	4276	6463	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458563G>A	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.379G>A	9.37:g.135458563G>A	ENSP00000263610:p.Gly127Ser					BARHL1_ENST00000542090.1_Missense_Mutation_p.G127S	p.G127S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	992	+			127					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.379G>A	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308356	0.23821	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.90788	-2.73;-2.73	4.24	3.3	0.37823	.	0.195686	0.44097	D	0.000492	T	0.79805	0.4509	N	0.22421	0.69	0.46131	D	0.998886	B	0.18310	0.027	B	0.13407	0.009	T	0.68032	-0.5516	10	0.08381	T	0.77	.	8.0316	0.30467	0.0:0.1757:0.6428:0.1814	.	127	Q9BZE3	BARH1_HUMAN	S	127	ENSP00000263610:G127S;ENSP00000444704:G127S	ENSP00000263610:G127S	G	+	1	0	BARHL1	134448384	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.491000	0.60326	0.931000	0.37242	0.643000	0.83706	GGC		0.607	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			11	121	0	0	0	1	0	11	121				
PSG3	5671	broad.mit.edu	37	19	43233294	43233294	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:43233294G>A	ENST00000327495.5	-	5	1408	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	PSG3_ENST00000595140.1_Silent_p.S408S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	408	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S408S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACTGTCATGGATTTGGAGC	0.463																																						ENST00000327495.5																			1	Substitution - coding silent(1)	p.S408S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1222-1224)tcC>tcT		pregnancy specific beta-1-glycoprotein 3							175.0	177.0	177.0					19																	43233294		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43233294G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1224C>T	19.37:g.43233294G>A						PSG3_ENST00000595140.1_Silent_p.S408S	p.S408S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1408	-		Prostate(69;0.00682)	408			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.1224C>T	CCDS12611.1																																																																																				0.463	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		17	288	0	0	0	1	0	17	288				
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	G	A	rs138844530		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:100623250G>A	ENST00000409236.2	-	5	829	c.717C>T	c.(715-717)gaC>gaT	p.D239D	AFF3_ENST00000356421.2_Silent_p.D264D|AFF3_ENST00000317233.4_Silent_p.D239D|AFF3_ENST00000409579.1_Silent_p.D264D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	239					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18592	0.0		0.0	False		,,,				2504	0.0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(715-717)gaC>gaT		AF4/FMR2 family, member 3		G	,	1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	79.0		792,717	-7.5	0.9	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	264/1252,239/1227	100623250	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623250G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.717C>T	2.37:g.100623250G>A						AFF3_ENST00000409579.1_Silent_p.D264D|AFF3_ENST00000409236.1_Silent_p.D239D|AFF3_ENST00000356421.2_Silent_p.D264D	p.D239D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	952	-			239					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.717C>T	CCDS42723.1																																																																																				0.572	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	80	0	0	0	1	0	4	80				
XPO7	23039	broad.mit.edu	37	8	21857054	21857054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:21857054C>T	ENST00000252512.9	+	24	2751	c.2651C>T	c.(2650-2652)cCc>cTc	p.P884L	XPO7_ENST00000433566.4_Missense_Mutation_p.P885L|XPO7_ENST00000434536.1_Missense_Mutation_p.P893L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGATTACCCCAAGCTCAGC	0.458																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2677-2679)cCc>cTc		exportin 7							149.0	143.0	145.0					8																	21857054		1942	4145	6087	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21857054C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2651C>T	8.37:g.21857054C>T	ENSP00000252512:p.Pro884Leu					XPO7_ENST00000433566.4_Missense_Mutation_p.P885L|XPO7_ENST00000252512.9_Missense_Mutation_p.P884L	p.P893L			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	24	2780	+			884					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2678C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219617	0.95139	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66280	-0.2;-0.2;-0.2	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.85859	2.78	0.80722	D	1	D;B;P	0.62365	0.991;0.386;0.731	D;B;B	0.63703	0.917;0.21;0.285	T	0.83031	-0.0162	10	0.62326	D	0.03	-16.5171	19.5646	0.95388	0.0:1.0:0.0:0.0	.	885;893;884	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	L	893;884;885	ENSP00000404853:P893L;ENSP00000252512:P884L;ENSP00000410249:P885L	ENSP00000252512:P884L	P	+	2	0	XPO7	21913000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.035000	0.70940	2.721000	0.93114	0.655000	0.94253	CCC		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		9	163	0	0	0	1	0	9	163				
LOC645752	645752	broad.mit.edu	37	15	78211247	78211247	+	lincRNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78211247C>T	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							AGCCTCTTTTCCTGCTTTTGC	0.572																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211247C>T																													15.37:g.78211247C>T						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			18	221	0	0	0	1	0	18	221				
PI4KB	5298	broad.mit.edu	37	1	151263026	151263026	+	IGR	SNP	C	C	T	rs60042414	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:151263026C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.S1086L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCTTGGCTCGGGGTTCCAG	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		16617	0.002		0.0	False		,,,				2504	0.0				Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(3256-3258)tCg>tTg		zinc finger protein 687							51.0	60.0	57.0					1																	151263026		2203	4299	6502	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151263026C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263026C>T							p.S1086L	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	3355	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		197					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3257C>T		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	14.51|14.51	2.556644|2.556644	0.45487|0.45487	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614|ENST00000368879	T;T|T	0.00932|0.00662	5.53;5.53|5.93	5.09|5.09	4.14|4.14	0.48551|0.48551	.|.	0.000000|.	0.30879|.	U|.	0.008691|.	T|T	0.00580|0.00580	0.0019|0.0019	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D|P	0.69078|0.34837	0.997|0.472	P|B	0.47299|0.34590	0.543|0.186	T|T	0.44742|0.44742	-0.9308|-0.9308	10|9	0.72032|0.62326	D|D	0.01|0.03	.|.	13.5507|13.5507	0.61730|0.61730	0.0:0.8437:0.1562:0.0|0.0:0.8437:0.1562:0.0	rs60042414|rs60042414	1066|1086	Q8N1G0|Q8N1G0-2	ZN687_HUMAN|.	W|L	1066;1066;689;34|1086	ENSP00000336620:R1066W;ENSP00000319829:R1066W|ENSP00000357874:S1086L	ENSP00000319829:R1066W|ENSP00000357874:S1086L	R|S	+|+	1|2	2|0	ZNF687|ZNF687	149529650|149529650	0.020000|0.020000	0.18652|0.18652	0.940000|0.940000	0.37924|0.37924	0.101000|0.101000	0.19017|0.19017	0.758000|0.758000	0.26447|0.26447	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.652	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		7	134	0	0	0	1	0	7	134				
KLB	152831	broad.mit.edu	37	4	39436031	39436031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:39436031G>A	ENST00000257408.4	+	2	1124	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	343	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTATCCAGAGGGGATGAGAAA	0.453																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1027-1029)Ggg>Agg		klotho beta							132.0	125.0	127.0					4																	39436031		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436031G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1027G>A	4.37:g.39436031G>A	ENSP00000257408:p.Gly343Arg						p.G343R	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			2	1124	+			343			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1027G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	1.681	-0.506378	0.04231	.	.	ENSG00000134962	ENST00000257408	T	0.28666	1.6	6.17	-1.09	0.09904	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.249670	0.04998	N	0.468548	T	0.14184	0.0343	N	0.12637	0.245	0.09310	N	1	B;B	0.29301	0.241;0.241	B;B	0.27380	0.079;0.079	T	0.12426	-1.0548	10	0.22109	T	0.4	0.0698	1.5415	0.02556	0.3067:0.2133:0.3644:0.1155	.	343;343	B7ZL50;Q86Z14	.;KLOTB_HUMAN	R	343	ENSP00000257408:G343R	ENSP00000257408:G343R	G	+	1	0	KLB	39112426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.336000	0.19823	-0.607000	0.05738	0.655000	0.94253	GGG		0.453	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		16	114	0	0	0	1	0	16	114				
STPG2	285555	broad.mit.edu	37	4	98893488	98893488	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:98893488C>T	ENST00000295268.3	-	7	965	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	292																	AGAAGAAAGTCCGAGGAACAG	0.348																																						ENST00000295268.3																			0											c.(874-876)cgG>cgA		sperm-tail PG-rich repeat containing 2							83.0	82.0	83.0					4																	98893488		2203	4300	6503	SO:0001819	synonymous_variant	285555							g.chr4:98893488C>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.876G>A	4.37:g.98893488C>T							p.R292R	NM_174952.2	NP_777612.1					7	965	-									Silent	SNP	ENST00000295268.3	37	c.876G>A	CCDS3645.1																																																																																				0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		6	95	0	0	0	1	0	6	95				
DDX26B	203522	broad.mit.edu	37	X	134713948	134713948	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:134713948C>T	ENST00000370752.4	+	15	2578	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	748										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCTCTCCGTAGATGACC	0.428																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2242-2244)tcC>tcT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							90.0	79.0	83.0					X																	134713948		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134713948C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2244C>T	X.37:g.134713948C>T						DDX26B_ENST00000493637.1_3'UTR	p.S748S	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			15	2578	+	Acute lymphoblastic leukemia(192;6.56e-05)		748					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.2244C>T	CCDS35401.1																																																																																				0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		8	53	0	0	0	1	0	8	53				
ZNF135	7694	broad.mit.edu	37	19	58579624	58579624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:58579624C>T	ENST00000313434.5	+	5	1873	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ZNF135_ENST00000511556.1_Missense_Mutation_p.S603F|ZNF135_ENST00000506786.1_Missense_Mutation_p.S549F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.S591F|ZNF135_ENST00000401053.4_Missense_Mutation_p.S615F|RN7SL526P_ENST00000469492.2_RNA	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	591					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCCACAGCTCCTCGCTCAGC	0.552																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1645-1647)tCc>tTc		zinc finger protein 135							92.0	86.0	88.0					19																	58579624		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579624C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1772C>T	19.37:g.58579624C>T	ENSP00000321406:p.Ser591Phe					ZNF135_ENST00000439855.2_Missense_Mutation_p.S591F|ZNF135_ENST00000401053.4_Missense_Mutation_p.S615F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.S591F|ZNF135_ENST00000511556.1_Missense_Mutation_p.S603F	p.S549F			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2200	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	603					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1646C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.286|7.286	0.610108|0.610108	0.14066|0.14066	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T	.|0.01745	.|4.66;4.66;4.66;4.66;4.66	2.81|2.81	2.81|2.81	0.32909|0.32909	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.08714|0.08714	0.0216|0.0216	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.982;0.998	.|P;D	.|0.68943	.|0.856;0.961	T|T	0.05007|0.05007	-1.0912|-1.0912	5|9	.|0.72032	.|D	.|0.01	.|.	13.4738|13.4738	0.61297|0.61297	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|603;591	.|E9PEV2;P52742	.|.;ZN135_HUMAN	S|F	609|615;591;591;603;549	.|ENSP00000441410:S615F;ENSP00000444828:S591F;ENSP00000321406:S591F;ENSP00000422074:S603F;ENSP00000427691:S549F	.|ENSP00000321406:S591F	P|S	+|+	1|2	0|0	ZNF135|ZNF135	63271436|63271436	0.000000|0.000000	0.05858|0.05858	0.649000|0.649000	0.29536|0.29536	0.005000|0.005000	0.04900|0.04900	-0.037000|-0.037000	0.12164|0.12164	1.895000|1.895000	0.54865|0.54865	0.557000|0.557000	0.71058|0.71058	CCT|TCC		0.552	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		8	137	0	0	0	1	0	8	137				
AHNAK2	113146	broad.mit.edu	37	14	105411521	105411521	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:105411521G>A	ENST00000333244.5	-	7	10386	c.10267C>T	c.(10267-10269)Ccc>Tcc	p.P3423S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3423						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGACTTTTAGG	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10267-10269)Ccc>Tcc		AHNAK nucleoprotein 2							155.0	169.0	164.0					14																	105411521		1899	4132	6031	SO:0001583	missense	113146					nucleus		g.chr14:105411521G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10267C>T	14.37:g.105411521G>A	ENSP00000353114:p.Pro3423Ser					AHNAK2_ENST00000557457.1_Intron	p.P3423S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10386	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3423					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10267C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.624231	0.46840	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.82	-5.13	0.02884	.	.	.	.	.	T	0.04497	0.0123	M	0.79011	2.435	0.09310	N	1	B	0.25312	0.123	B	0.18871	0.023	T	0.32025	-0.9922	9	0.36615	T	0.2	.	3.607	0.08046	0.1806:0.3719:0.3441:0.1033	.	3423	Q8IVF2	AHNK2_HUMAN	S	3423	ENSP00000353114:P3423S	ENSP00000353114:P3423S	P	-	1	0	AHNAK2	104482566	.	.	0.001000	0.08648	0.016000	0.09150	.	.	-1.282000	0.02396	0.491000	0.48974	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		30	324	0	0	0	1	0	30	324				
FBN2	2201	broad.mit.edu	37	5	127728910	127728910	+	Silent	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:127728910G>T	ENST00000508053.1	-	16	2357	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	FBN2_ENST00000508989.1_Silent_p.I428I|FBN2_ENST00000262464.4_Silent_p.I461I			P35556	FBN2_HUMAN	fibrillin 2	461					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCTCCAGGGATGGGGATGA	0.602																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1381-1383)atC>atA		fibrillin 2							85.0	83.0	84.0					5																	127728910		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728910G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1383C>A	5.37:g.127728910G>T						FBN2_ENST00000508989.1_Silent_p.I428I|FBN2_ENST00000262464.4_Silent_p.I461I	p.I461I			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	16	2357	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	461					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.1383C>A	CCDS34222.1																																																																																				0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	144	1	0	9.70103e-10	1	9.93495e-10	11	144				
MUS81	80198	broad.mit.edu	37	11	65631360	65631360	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:65631360C>T	ENST00000308110.4	+	10	1396	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Silent_p.F274F|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	349	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGCCGCTTCCGGGAGCAGA	0.587								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1045-1047)ttC>ttT	Homologous recombination	MUS81 structure-specific endonuclease subunit							63.0	69.0	67.0					11																	65631360		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65631360C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1047C>T	11.37:g.65631360C>T						MUS81_ENST00000533035.1_Silent_p.F274F	p.F349F	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	10	1396	+			349			ERCC4.		Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.1047C>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380801	0.24944	.	.	ENSG00000172732	ENST00000529374	.	.	.	5.8	3.59	0.41128	.	.	.	.	.	T	0.60327	0.2260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58148	-0.7687	4	.	.	.	-22.2567	10.512	0.44868	0.0:0.8095:0.0:0.1905	.	.	.	.	S	275	.	.	P	+	1	0	MUS81	65387936	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.393000	0.44442	1.423000	0.47198	0.655000	0.94253	CCG		0.587	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		6	75	0	0	0	1	0	6	75				
OMD	4958	broad.mit.edu	37	9	95179095	95179095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:95179095G>A	ENST00000375550.4	-	2	1021	c.746C>T	c.(745-747)cCc>cTc	p.P249L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	249					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GTATTTTTCGGGTATAGAAGA	0.338			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(745-747)cCc>cTc		osteomodulin							73.0	79.0	77.0					9																	95179095		2202	4298	6500	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179095G>A	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.746C>T	9.37:g.95179095G>A	ENSP00000364700:p.Pro249Leu					CENPP_ENST00000375587.3_Intron	p.P249L	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	1021	-			249					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.746C>T	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.123685	0.77436	.	.	ENSG00000127083	ENST00000375550	T	0.59906	0.23	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	T	0.81088	0.4750	M	0.88031	2.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.84151	0.0423	10	0.87932	D	0	-16.1825	19.6893	0.95993	0.0:0.0:1.0:0.0	.	249	Q99983	OMD_HUMAN	L	249	ENSP00000364700:P249L	ENSP00000364700:P249L	P	-	2	0	OMD	94218916	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.560000	0.82277	2.735000	0.93741	0.650000	0.86243	CCC		0.338	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		9	130	0	0	0	1	0	9	130				
LRRN2	10446	broad.mit.edu	37	1	204587126	204587126	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:204587126G>A	ENST00000367175.1	-	1	4207	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Silent_p.L665L|LRRN2_ENST00000367176.3_Silent_p.L665L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	665					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGCTGGAGGGAGAGGCCGCC	0.662																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1993-1995)ctC>ctT		leucine rich repeat neuronal 2							48.0	54.0	52.0					1																	204587126		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587126G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1995C>T	1.37:g.204587126G>A						LRRN2_ENST00000367176.3_Silent_p.L665L|LRRN2_ENST00000367177.3_Silent_p.L665L	p.L665L			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	4207	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		665					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.1995C>T	CCDS1448.1																																																																																				0.662	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		6	98	0	0	0	1	0	6	98				
URB2	9816	broad.mit.edu	37	1	229772876	229772876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:229772876C>T	ENST00000258243.2	+	4	2652	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	839						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCAGCTTCCCTGGCTTTTT	0.488																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2515-2517)cCc>cTc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							111.0	113.0	113.0					1																	229772876		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229772876C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2516C>T	1.37:g.229772876C>T	ENSP00000258243:p.Pro839Leu						p.P839L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	2652	+			839					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2516C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067490	0.76301	.	.	ENSG00000135763	ENST00000258243	T	0.30714	1.52	5.12	5.12	0.69794	.	0.245069	0.41097	D	0.000959	T	0.24275	0.0588	L	0.32530	0.975	0.50467	D	0.999879	B	0.25772	0.134	B	0.17433	0.018	T	0.03641	-1.1017	9	.	.	.	-25.4405	16.4347	0.83871	0.0:1.0:0.0:0.0	.	839	Q14146	URB2_HUMAN	L	839	ENSP00000258243:P839L	.	P	+	2	0	URB2	227839499	0.045000	0.20229	0.865000	0.33974	0.801000	0.45260	1.539000	0.36104	2.566000	0.86566	0.585000	0.79938	CCC		0.488	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		9	155	0	0	0	1	0	9	155				
MFAP1	4236	broad.mit.edu	37	15	44106796	44106796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:44106796G>A	ENST00000267812.3	-	4	752	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	174					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCCAGAACGACCCTCATCT	0.483																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(520-522)Cgt>Tgt		microfibrillar-associated protein 1							197.0	189.0	192.0					15																	44106796		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44106796G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.520C>T	15.37:g.44106796G>A	ENSP00000267812:p.Arg174Cys						p.R174C	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	4	752	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	174					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.520C>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473271	0.63737	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.59	5.59	0.84812	.	0.197801	0.49916	D	0.000129	T	0.43478	0.1249	N	0.12182	0.205	0.80722	D	1	D	0.64830	0.994	P	0.48770	0.589	T	0.48692	-0.9013	9	0.66056	D	0.02	-6.465	14.422	0.67190	0.0:0.0:0.8524:0.1476	.	174	P55081	MFAP1_HUMAN	C	174	.	ENSP00000267812:R174C	R	-	1	0	MFAP1	41894088	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.444000	0.60001	2.797000	0.96272	0.563000	0.77884	CGT		0.483	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		7	162	0	0	0	1	0	7	162				
MMP24	10893	broad.mit.edu	37	20	33834701	33834701	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:33834701A>T	ENST00000246186.6	+	2	390	c.305A>T	c.(304-306)cAc>cTc	p.H102L	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	102					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	TCTGCGCTGCACTCAGCGAAG	0.507																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(304-306)cAc>cTc		matrix metallopeptidase 24 (membrane-inserted)							141.0	135.0	137.0					20																	33834701		2043	4205	6248	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834701A>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.305A>T	20.37:g.33834701A>T	ENSP00000246186:p.His102Leu					MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	p.H102L	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	390	+			102					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.305A>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967629	0.53507	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.34859	1.34	5.5	1.88	0.25563	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.302619	0.32386	N	0.006167	T	0.13970	0.0338	N	0.03154	-0.405	0.34297	D	0.68393	B	0.18461	0.028	B	0.14023	0.01	T	0.06643	-1.0815	10	0.87932	D	0	.	4.3042	0.10938	0.6739:0.1299:0.0713:0.1249	.	102	Q9Y5R2	MMP24_HUMAN	L	102;50	ENSP00000246186:H102L	ENSP00000246186:H102L	H	+	2	0	MMP24	33298117	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.309000	0.33539	1.060000	0.40578	0.450000	0.29827	CAC		0.507	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		6	110	0	0	0	1	0	6	110				
PDS5A	23244	broad.mit.edu	37	4	39851152	39851152	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:39851152G>A	ENST00000303538.8	-	27	3746	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATTTGTCTTGGATTCATCTG	0.348																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(3205-3207)tcC>tcT		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							144.0	136.0	139.0					4																	39851152		1907	4118	6025	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39851152G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3207C>T	4.37:g.39851152G>A							p.S1069S	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			27	3746	-			1069						Silent	SNP	ENST00000303538.8	37	c.3207C>T	CCDS47045.1																																																																																				0.348	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		16	108	0	0	0	1	0	16	108				
TBC1D3P5	440419	broad.mit.edu	37	17	25758375	25758375	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:25758375C>T	ENST00000586223.1	+	0	2809					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		CCCGAGATCCCAAACAAGCTT	0.438											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586223.1																			0																																																			440419							g.chr17:25758375C>T			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25758375C>T			OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	781			NR_033892.1						0	2809	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.438	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		3	36	0	0	0	1	0	3	36				
ITGA2B	3674	broad.mit.edu	37	17	42452042	42452042	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42452042G>A	ENST00000262407.5	-	28	2959	c.2928C>T	c.(2926-2928)ccC>ccT	p.P976P	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTTCCCCTCGGGGCAGGCTGA	0.632																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2926-2928)ccC>ccT		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						49.0	55.0	53.0					17																	42452042		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42452042G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2928C>T	17.37:g.42452042G>A						ITGA2B_ENST00000353281.4_Intron	p.P976P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	28	2959	-		Prostate(33;0.0181)	976					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.2928C>T	CCDS32665.1																																																																																				0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			4	73	0	0	0	1	0	4	73				
CTNNA2	1496	broad.mit.edu	37	2	80136798	80136798	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:80136798A>C	ENST00000402739.4	+	6	936	c.931A>C	c.(931-933)Atc>Ctc	p.I311L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I345L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I311L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	311					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAGAGCATCATCAGCGGCGC	0.632																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(931-933)Atc>Ctc		catenin (cadherin-associated protein), alpha 2							50.0	57.0	55.0					2																	80136798		2002	4185	6187	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136798A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.931A>C	2.37:g.80136798A>C	ENSP00000384638:p.Ile311Leu					CTNNA2_ENST00000402739.4_Missense_Mutation_p.I311L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I345L	p.I311L			P26232	CTNA2_HUMAN			11	1655	+			311					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.931A>C		.	.	.	.	.	.	.	.	.	.	A	35	5.423065	0.96111	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.6	5.6	0.85130	.	.	.	.	.	T	0.58075	0.2097	L	0.59436	1.845	0.80722	D	1	P;P;P	0.50943	0.94;0.712;0.712	P;P;P	0.62014	0.897;0.58;0.451	T	0.53913	-0.8371	9	0.31617	T	0.26	.	15.7808	0.78257	1.0:0.0:0.0:0.0	.	311;311;311	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	311;311;345;311;311;311	ENSP00000418191:I311L;ENSP00000419295:I311L;ENSP00000355398:I345L;ENSP00000384638:I311L;ENSP00000444675:I311L;ENSP00000441705:I311L	ENSP00000355398:I345L	I	+	1	0	CTNNA2	79990309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.332000	0.96446	2.142000	0.66516	0.482000	0.46254	ATC		0.632	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	136	0	0	0	1	0	7	136				
PLG	5340	broad.mit.edu	37	6	161173292	161173292	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:161173292G>A	ENST00000308192.9	+	18	2334	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	757	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGTTGCCAGGTAAGCAAAG	0.473																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.e18+1		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						76.0	75.0	75.0					6																	161173292		2203	4300	6503	SO:0001630	splice_region_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173292G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2271+1G>A	6.37:g.161173292G>A							p.Q757_splice	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2334	+			757			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Splice_Site	SNP	ENST00000308192.9	37	c.2271_splice	CCDS5279.1																																																																																				0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	Silent	7	60	0	0	0	1	0	7	60				
DMBT1	1755	broad.mit.edu	37	10	124396775	124396775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:124396775C>T	ENST00000338354.3	+	51	6608	c.6502C>T	c.(6502-6504)Ccg>Tcg	p.P2168S	DMBT1_ENST00000330163.4_Missense_Mutation_p.P1540S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P2168S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P888S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1540S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2168	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGATAACGCCGAACCTGGT	0.522																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6502-6504)Ccg>Tcg		deleted in malignant brain tumors 1							84.0	80.0	81.0					10																	124396775		1943	4130	6073	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124396775C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6502C>T	10.37:g.124396775C>T	ENSP00000342210:p.Pro2168Ser					DMBT1_ENST00000330163.4_Missense_Mutation_p.P1540S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1540S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P888S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000338354.3_Missense_Mutation_p.P2168S	p.P2168S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			51	6608	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2168			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6502C>T		.	.	.	.	.	.	.	.	.	.	C	0.427	-0.905527	0.02453	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.99	-9.99	0.00435	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.41003	0.1140	N	0.01168	-0.975	0.09310	N	1	B;B;B;B;B;B;B	0.18166	0.003;0.026;0.002;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B	0.17979	0.002;0.02;0.002;0.002;0.002;0.002;0.003	T	0.41016	-0.9532	9	0.10902	T	0.67	.	2.0916	0.03658	0.1618:0.288:0.3407:0.2095	.	888;2148;1417;2297;1540;2158;2168	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	S	2168;2297;2168;2168;2168;2167;1540;2158;1540;1540;2168;2158;1540;314;888	ENSP00000342210:P2168S;ENSP00000343175:P2158S;ENSP00000327747:P1540S;ENSP00000357905:P2168S;ENSP00000357951:P2158S;ENSP00000357952:P1540S;ENSP00000352593:P888S	ENSP00000331522:P1540S	P	+	1	0	DMBT1	124386765	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.461000	0.00120	-2.594000	0.00455	0.655000	0.94253	CCG		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	52	0	0	0	1	0	5	52				
CD8B	926	broad.mit.edu	37	2	87042814	87042814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:87042814G>A	ENST00000393761.2	-	4	579	c.521C>T	c.(520-522)cCt>cTt	p.P174L	CD8B_ENST00000331469.2_Silent_p.T216T|CD8B_ENST00000349455.3_Silent_p.T186T|CD8B_ENST00000393759.2_3'UTR	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGGACAAAGGTTCCTGATA	0.433																																						ENST00000393761.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(520-522)cCt>cTt		CD8b molecule							311.0	285.0	294.0					2																	87042814		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87042814G>A		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000393761.2:c.521C>T	2.37:g.87042814G>A	ENSP00000377358:p.Pro174Leu					CD8B_ENST00000331469.2_Silent_p.T216T|CD8B_ENST00000349455.3_Silent_p.T186T|CD8B_ENST00000393759.2_3'UTR	p.P174L	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN			4	579	-			0					P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000393761.2	37	c.521C>T	CCDS54376.1	.	.	.	.	.	.	.	.	.	.	G	2.000	-0.429676	0.04701	.	.	ENSG00000172116	ENST00000393761	.	.	.	1.58	-0.436	0.12275	.	.	.	.	.	T	0.26557	0.0649	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	7	0.87932	D	0	.	2.1337	0.03756	0.2024:0.0:0.491:0.3066	.	174	Q496E2	.	L	174	.	ENSP00000377358:P174L	P	-	2	0	CD8B	86896325	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.096000	0.15147	-0.132000	0.11557	0.555000	0.69702	CCT		0.433	CD8B-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_172099		24	385	0	0	0	1	0	24	385				
ARFGEF2	10564	broad.mit.edu	37	20	47628527	47628527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:47628527C>T	ENST00000371917.4	+	28	3824	c.3824C>T	c.(3823-3825)tCa>tTa	p.S1275L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1275					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGTGCTTATCAGAGTTCGCC	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3823-3825)tCa>tTa		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							154.0	142.0	146.0					20																	47628527		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47628527C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3824C>T	20.37:g.47628527C>T	ENSP00000360985:p.Ser1275Leu						p.S1275L	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		28	3824	+			1275					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3824C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060588	0.93846	.	.	ENSG00000124198	ENST00000371917	T	0.60548	0.18	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.178739	0.50627	D	0.000111	T	0.73992	0.3658	M	0.85099	2.735	0.80722	D	1	D	0.56287	0.975	P	0.52598	0.703	T	0.79220	-0.1893	10	0.72032	D	0.01	.	19.3208	0.94237	0.0:1.0:0.0:0.0	.	1275	Q9Y6D5	BIG2_HUMAN	L	1275	ENSP00000360985:S1275L	ENSP00000360985:S1275L	S	+	2	0	ARFGEF2	47061934	1.000000	0.71417	0.215000	0.23724	0.744000	0.42396	7.747000	0.85070	2.557000	0.86248	0.561000	0.74099	TCA		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		9	185	0	0	0	1	0	9	185				
MYH8	4626	broad.mit.edu	37	17	10304953	10304953	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:10304953C>T	ENST00000403437.2	-	23	2932	c.2838G>A	c.(2836-2838)ctG>ctA	p.L946L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	946					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCATCCTCCAGTTTTCTCT	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2836-2838)ctG>ctA		myosin, heavy chain 8, skeletal muscle, perinatal							359.0	340.0	346.0					17																	10304953		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304953C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2838G>A	17.37:g.10304953C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L946L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2932	-			946					Q14910	Silent	SNP	ENST00000403437.2	37	c.2838G>A	CCDS11153.1																																																																																				0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		20	430	0	0	0	1	0	20	430				
SYNM	23336	broad.mit.edu	37	15	99672296	99672296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:99672296G>A	ENST00000336292.6	+	5	3848	c.3728G>A	c.(3727-3729)gGg>gAg	p.G1243E	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1244	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGCTGCAGGGAAGGTTGGT	0.483																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3727-3729)gGg>gAg		synemin, intermediate filament protein							48.0	49.0	49.0					15																	99672296		1892	4118	6010	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672296G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3728G>A	15.37:g.99672296G>A	ENSP00000336775:p.Gly1243Glu					SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	p.G1243E	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	3848	+			1244			Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3728G>A		.	.	.	.	.	.	.	.	.	.	G	10.01	1.234006	0.22626	.	.	ENSG00000182253	ENST00000336292	D	0.81996	-1.56	5.26	-1.4	0.08968	.	.	.	.	.	T	0.68183	0.2973	.	.	.	0.20403	N	0.999902	B	0.15141	0.012	B	0.16722	0.016	T	0.53528	-0.8426	8	0.41790	T	0.15	.	2.4089	0.04420	0.4626:0.1432:0.28:0.1143	.	1244	O15061	SYNEM_HUMAN	E	1243	ENSP00000336775:G1243E	ENSP00000336775:G1243E	G	+	2	0	SYNM	97489819	0.000000	0.05858	0.001000	0.08648	0.982000	0.71751	0.062000	0.14389	-0.274000	0.09232	0.655000	0.94253	GGG		0.483	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		7	92	0	0	0	1	0	7	92				
PIKFYVE	200576	broad.mit.edu	37	2	209203266	209203266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:209203266C>T	ENST00000264380.4	+	29	4804	c.4646C>T	c.(4645-4647)tCt>tTt	p.S1549F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1549					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CGGAATATTTCTCCAGGACTT	0.323																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4645-4647)tCt>tTt		phosphoinositide kinase, FYVE finger containing							87.0	88.0	87.0					2																	209203266		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209203266C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4646C>T	2.37:g.209203266C>T	ENSP00000264380:p.Ser1549Phe						p.S1549F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			29	4804	+			1549					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4646C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824507	0.90955	.	.	ENSG00000115020	ENST00000264380	T	0.35048	1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.51244	-0.8730	10	0.72032	D	0.01	-18.875	18.7035	0.91629	0.0:1.0:0.0:0.0	.	1549	Q9Y2I7	FYV1_HUMAN	F	1549	ENSP00000264380:S1549F	ENSP00000264380:S1549F	S	+	2	0	PIKFYVE	208911511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.100000	0.71473	2.749000	0.94314	0.655000	0.94253	TCT		0.323	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	48	0	0	0	1	0	4	48				
MLPH	79083	broad.mit.edu	37	2	238434338	238434338	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238434338A>T	ENST00000264605.3	+	7	1064	c.770A>T	c.(769-771)cAt>cTt	p.H257L	MLPH_ENST00000445024.2_Missense_Mutation_p.H257L|MLPH_ENST00000409373.1_Missense_Mutation_p.H217L|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257L|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGCCACTCCCATCCGGAAGAG	0.652																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(769-771)cAt>cTt		melanophilin							52.0	54.0	53.0					2																	238434338		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238434338A>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.770A>T	2.37:g.238434338A>T	ENSP00000264605:p.His257Leu					MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217L|MLPH_ENST00000445024.2_Missense_Mutation_p.H257L|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257L	p.H257L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	7	1064	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	257					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.770A>T	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.254|1.254	-0.617711|-0.617711	0.03663|0.03663	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373|ENST00000437893	T;T;T;T|T	0.23950|0.29142	2.26;2.25;2.09;1.88|1.58	3.35|3.35	-5.28|-5.28	0.02755|0.02755	.|.	1.889860|.	0.03342|.	U|.	0.194952|.	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B;P;B;P;B;B|.	0.44734|.	0.304;0.842;0.002;0.763;0.004;0.064|.	B;B;B;B;B;B|.	0.34536|.	0.072;0.185;0.003;0.173;0.007;0.031|.	T|T	0.46541|0.46541	-0.9184|-0.9184	10|7	0.22109|0.62326	T|D	0.4|0.03	0.5924|0.5924	12.7301|12.7301	0.57193|0.57193	0.1872:0.0:0.8128:0.0|0.1872:0.0:0.8128:0.0	.|.	257;141;257;217;257;257|.	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36|.	.;.;.;.;.;MELPH_HUMAN|.	L|F	257;257;257;217|64	ENSP00000264605:H257L;ENSP00000414849:H257L;ENSP00000341845:H257L;ENSP00000386780:H217L|ENSP00000412438:I64F	ENSP00000264605:H257L|ENSP00000412438:I64F	H|I	+|+	2|1	0|0	MLPH|MLPH	238099077|238099077	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.824000|-4.824000	0.00181|0.00181	-1.273000|-1.273000	0.02424|0.02424	-0.374000|-0.374000	0.07098|0.07098	CAT|ATC		0.652	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		5	69	0	0	0	1	0	5	69				
ZNF506	440515	broad.mit.edu	37	19	19917755	19917755	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19917755G>A	ENST00000540806.2	-	2	214	c.126C>T	c.(124-126)ttC>ttT	p.F42F	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Silent_p.F42F|ZNF506_ENST00000443905.2_Silent_p.F42F|ZNF506_ENST00000587461.1_Silent_p.F42F|ZNF506_ENST00000545006.1_Silent_p.F42F|ZNF506_ENST00000587452.1_Silent_p.F42F			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCTCACCAAGGAAGATCAGGT	0.363																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(124-126)ttC>ttT		zinc finger protein 506							92.0	99.0	97.0					19																	19917755		2203	4300	6503	SO:0001819	synonymous_variant	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19917755G>A	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.126C>T	19.37:g.19917755G>A						ZNF506_ENST00000540806.2_Silent_p.F42F|ZNF506_ENST00000587461.1_Silent_p.F42F|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Silent_p.F42F|ZNF506_ENST00000545006.1_Silent_p.F42F|ZNF506_ENST00000450683.2_Silent_p.F42F	p.F42F			Q5JVG8	ZN506_HUMAN			2	273	-			42			KRAB.		B3KTH6	Silent	SNP	ENST00000540806.2	37	c.126C>T	CCDS42531.1																																																																																				0.363	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		8	161	0	0	0	1	0	8	161				
SYNJ1	8867	broad.mit.edu	37	21	34003361	34003361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:34003361G>A	ENST00000322229.7	-	31	4665	c.4666C>T	c.(4666-4668)Cct>Tct	p.P1556S	SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1509S|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1595S|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1556	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCGTGAAAGGATCTACTGGA	0.512																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4525-4527)Cct>Tct		synaptojanin 1							90.0	88.0	89.0					21																	34003361		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003361G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4666C>T	21.37:g.34003361G>A	ENSP00000322234:p.Pro1556Ser					SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1595S|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1556S|SYNJ1_ENST00000382499.2_3'UTR	p.P1509S	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4649	-			1556			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.4525C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586917	0.66105	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	T;T;T	0.30714	1.52;1.52;1.52	5.87	3.05	0.35203	.	0.176767	0.39083	N	0.001464	T	0.24624	0.0597	L	0.45581	1.43	0.58432	D	0.999999	B	0.21071	0.051	B	0.14023	0.01	T	0.05784	-1.0864	10	0.48119	T	0.1	.	8.1481	0.31124	0.1394:0.1285:0.7321:0.0	.	1556	O43426	SYNJ1_HUMAN	S	1509;1595;1556	ENSP00000371931:P1509S;ENSP00000409667:P1595S;ENSP00000322234:P1556S	ENSP00000322234:P1556S	P	-	1	0	SYNJ1	32925232	0.934000	0.31675	0.084000	0.20598	0.974000	0.67602	1.350000	0.34010	0.801000	0.34066	0.650000	0.86243	CCT		0.512	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	46	0	0	0	1	0	7	46				
ST6GAL2	84620	broad.mit.edu	37	2	107423211	107423211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:107423211G>A	ENST00000409382.3	-	6	2123	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R505C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	505					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTGCCCTTGCGATGCAAATCC	0.577																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1513-1515)Cgc>Tgc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							110.0	96.0	101.0					2																	107423211		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107423211G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1513C>T	2.37:g.107423211G>A	ENSP00000386942:p.Arg505Cys					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R505C	p.R505C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			6	2123	-			505					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1513C>T	CCDS2073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.471113|3.471113	0.63625|0.63625	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	T;T|.	0.15718|.	2.4;2.4|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.255913|.	0.42964|.	D|.	0.000630|.	T|T	0.73900|0.73900	0.3646|0.3646	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	P|.	0.58970|.	0.849|.	T|T	0.73575|0.73575	-0.3939|-0.3939	10|5	0.72032|.	D|.	0.01|.	-23.2149|-23.2149	13.9514|13.9514	0.64118|0.64118	0.0:0.0:0.8485:0.1515|0.0:0.0:0.8485:0.1515	.|.	505|.	Q96JF0|.	SIAT2_HUMAN|.	C|L	505|70	ENSP00000355273:R505C;ENSP00000386942:R505C|.	ENSP00000355273:R505C|.	R|S	-|-	1|2	0|0	ST6GAL2|ST6GAL2	106789643|106789643	0.996000|0.996000	0.38824|0.38824	0.957000|0.957000	0.39632|0.39632	0.652000|0.652000	0.38707|0.38707	3.615000|3.615000	0.54167|0.54167	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.577	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	114	0	0	0	1	0	5	114				
IGHV1-58	28464	broad.mit.edu	37	14	107078641	107078641	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:107078641G>A	ENST00000390628.2	-	0	143									immunoglobulin heavy variable 1-58																		CTTCACCTCAGGCCCAGACTG	0.562																																						ENST00000390628.2																			0																				79.0	79.0	79.0					14																	107078641		1963	4153	6116			28464							g.chr14:107078641G>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078641G>A														0	143	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.562	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		6	102	0	0	0	1	0	6	102				
PCDHA9	9752	broad.mit.edu	37	5	140228278	140228278	+	Silent	SNP	G	G	A	rs71588635		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140228278G>A	ENST00000532602.1	+	1	1231	c.198G>A	c.(196-198)ttG>ttA	p.L66L	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Silent_p.L66L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCAGTTGGATTCCAAAG	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(196-198)ttG>ttA									68.0	75.0	73.0					5																	140228278		2196	4254	6450	SO:0001819	synonymous_variant	9752							g.chr5:140228278G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.198G>A	5.37:g.140228278G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L66L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	p.L66L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	922	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.198G>A	CCDS54920.1																																																																																				0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		15	308	0	0	0	1	0	15	308				
ABCA1	19	broad.mit.edu	37	9	107560849	107560849	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:107560849G>A	ENST00000374736.3	-	37	5368	c.4974C>T	c.(4972-4974)tcC>tcT	p.S1658S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1658					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGACACAGATGGACACAAGGA	0.493																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4972-4974)tcC>tcT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						129.0	101.0	110.0					9																	107560849		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107560849G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4974C>T	9.37:g.107560849G>A							p.S1658S	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	37	5368	-			1658					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.4974C>T	CCDS6762.1																																																																																				0.493	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	56	0	0	0	1	0	4	56				
LYN	4067	broad.mit.edu	37	8	56879311	56879311	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:56879311C>T	ENST00000519728.1	+	9	1124	c.828C>T	c.(826-828)acC>acT	p.T276T	LYN_ENST00000520220.2_Silent_p.T255T|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTGTGAAAACCCTGAAGCCAG	0.498																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(763-765)acC>acT		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							74.0	67.0	69.0					8																	56879311		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56879311C>T	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.828C>T	8.37:g.56879311C>T						LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Silent_p.T276T	p.T255T	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		9	1039	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	276			Protein kinase.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.765C>T	CCDS6162.1																																																																																				0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		5	63	0	0	0	1	0	5	63				
OR4K1	79544	broad.mit.edu	37	14	20403883	20403883	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20403883T>G	ENST00000285600.4	+	1	117	c.58T>G	c.(58-60)Tcc>Gcc	p.S20A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACTCTCTAATTCCTGGGGACT	0.343																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(58-60)Tcc>Gcc		olfactory receptor, family 4, subfamily K, member 1							352.0	396.0	381.0					14																	20403883		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403883T>G		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.58T>G	14.37:g.20403883T>G	ENSP00000285600:p.Ser20Ala						p.S20A	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	117	+	all_cancers(95;0.00108)		20					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.58T>G	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	8.817	0.936634	0.18206	.	.	ENSG00000155249	ENST00000285600	T	0.01068	5.38	4.77	4.77	0.60923	.	0.000000	0.49916	D	0.000129	T	0.01870	0.0059	M	0.69248	2.105	0.09310	N	0.999995	B	0.24317	0.101	B	0.24848	0.056	T	0.35624	-0.9781	10	0.62326	D	0.03	.	7.0027	0.24820	0.0:0.1007:0.0:0.8993	.	20	Q8NGD4	OR4K1_HUMAN	A	20	ENSP00000285600:S20A	ENSP00000285600:S20A	S	+	1	0	OR4K1	19473723	0.000000	0.05858	0.584000	0.28653	0.176000	0.22953	-0.091000	0.11146	2.008000	0.58898	0.459000	0.35465	TCC		0.343	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			23	341	0	0	0	1	0	23	341				
SPATA21	374955	broad.mit.edu	37	1	16727307	16727307	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:16727307T>G	ENST00000335496.1	-	11	1564	c.1082A>C	c.(1081-1083)aAg>aCg	p.K361T	SPATA21_ENST00000540400.1_Missense_Mutation_p.K338T|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	361							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTAGGGAAGCTTCTGCAACCG	0.587																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(1081-1083)aAg>aCg		spermatogenesis associated 21							121.0	135.0	130.0					1																	16727307		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16727307T>G		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1082A>C	1.37:g.16727307T>G	ENSP00000335612:p.Lys361Thr					SPATA21_ENST00000540400.1_Missense_Mutation_p.K338T|SPATA21_ENST00000466212.1_5'UTR	p.K361T	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1564	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	361					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.1082A>C	CCDS172.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636339	0.29068	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.67698	0.82;-0.28;-0.27	3.93	2.81	0.32909	.	0.339124	0.21692	N	0.070549	T	0.70885	0.3275	L	0.59436	1.845	0.28145	N	0.929636	P;D	0.76494	0.493;0.999	B;D	0.66084	0.109;0.941	T	0.60234	-0.7303	10	0.21014	T	0.42	-9.8153	6.0742	0.19905	0.0:0.1148:0.0:0.8852	.	338;361	F5GXP5;Q7Z572	.;SPT21_HUMAN	T	69;361;338	ENSP00000420753:K69T;ENSP00000335612:K361T;ENSP00000440046:K338T	ENSP00000335612:K361T	K	-	2	0	SPATA21	16599894	0.995000	0.38212	0.975000	0.42487	0.075000	0.17131	1.270000	0.33086	0.864000	0.35578	-0.256000	0.11100	AAG		0.587	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		12	319	0	0	0	1	0	12	319				
CCDC108	255101	broad.mit.edu	37	2	219903262	219903262	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:219903262C>T	ENST00000341552.5	-	4	275	c.192G>A	c.(190-192)aaG>aaA	p.K64K	CCDC108_ENST00000409865.3_Silent_p.K53K|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000441968.1_Silent_p.K64K|CCDC108_ENST00000410037.1_5'UTR|CCDC108_ENST00000295729.2_5'UTR|CCDC108_ENST00000453220.1_Silent_p.K64K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	64						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)		GCATCATGTCCTTGGGACACA	0.582																																						ENST00000341552.5																			0				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						c.(190-192)aaG>aaA		coiled-coil domain containing 108							61.0	48.0	53.0					2																	219903262		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219903262C>T	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.192G>A	2.37:g.219903262C>T						CCDC108_ENST00000441968.1_Silent_p.K64K|CCDC108_ENST00000453220.1_Silent_p.K64K|CCDC108_ENST00000295729.2_5'UTR|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000409865.3_Silent_p.K53K|CCDC108_ENST00000410037.1_5'UTR	p.K64K	NM_194302.2	NP_919278.2	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)	4	275	-		Renal(207;0.0915)	64					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.192G>A	CCDS2430.2																																																																																				0.582	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	37	0	0	0	1	0	4	37				
QSOX2	169714	broad.mit.edu	37	9	139100649	139100649	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139100649G>A	ENST00000358701.5	-	12	2059	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	674					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACCATGAGGAACAGGGATG	0.637																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(2020-2022)ttC>ttT		quiescin Q6 sulfhydryl oxidase 2							145.0	122.0	130.0					9																	139100649		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100649G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2022C>T	9.37:g.139100649G>A							p.F674F	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	2059	-		Myeloproliferative disorder(178;0.0511)	674					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.2022C>T	CCDS35178.1																																																																																				0.637	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		11	157	0	0	0	1	0	11	157				
ARHGAP17	55114	broad.mit.edu	37	16	24942209	24942209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:24942209C>T	ENST00000289968.6	-	19	2480	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R726K|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	804	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCCGGTTCCTTGGCTTTGG	0.612																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2410-2412)aGg>aAg		Rho GTPase activating protein 17							99.0	110.0	106.0					16																	24942209		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942209C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2411G>A	16.37:g.24942209C>T	ENSP00000289968:p.Arg804Lys					ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R726K|ARHGAP17_ENST00000441763.2_3'UTR	p.R804K	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2480	-			804			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2411G>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193229	0.58017	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.38722	1.12;1.73	5.52	5.52	0.82312	.	0.000000	0.41396	D	0.000887	T	0.61702	0.2368	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.994;0.996;0.993;0.999	D;D;D;D;D	0.80764	0.987;0.97;0.987;0.967;0.994	T	0.57394	-0.7819	10	0.09338	T	0.73	.	16.9387	0.86210	0.0:1.0:0.0:0.0	.	726;804;337;637;365	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	K	804;726;804	ENSP00000289968:R804K;ENSP00000303130:R726K	ENSP00000289968:R804K	R	-	2	0	ARHGAP17	24849710	0.878000	0.30173	0.223000	0.23860	0.008000	0.06430	6.191000	0.72063	2.583000	0.87209	0.650000	0.86243	AGG		0.612	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		12	278	0	0	0	1	0	12	278				
STOX1	219736	broad.mit.edu	37	10	70641765	70641765	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:70641765C>T	ENST00000298596.6	+	2	445	c.362C>T	c.(361-363)cCt>cTt	p.P121L	STOX1_ENST00000399165.4_Missense_Mutation_p.P121L|STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000421961.2_Missense_Mutation_p.P11L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTTCGTACCTTTGGGTGAA	0.378																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(361-363)cCt>cTt		storkhead box 1							173.0	158.0	163.0					10																	70641765		1861	4097	5958	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641765C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.362C>T	10.37:g.70641765C>T	ENSP00000298596:p.Pro121Leu					STOX1_ENST00000399165.4_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000421961.2_Missense_Mutation_p.P11L	p.P121L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			2	445	+			121					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.362C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100410	0.94245	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.000000	0.64402	U	0.000001	D	0.90960	0.7158	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91507	0.5224	10	0.87932	D	0	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	121;121;121	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	L	121;121;121;121;11	ENSP00000382121:P121L;ENSP00000298596:P121L;ENSP00000382118:P121L;ENSP00000382115:P121L;ENSP00000394509:P11L	ENSP00000298596:P121L	P	+	2	0	STOX1	70311771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.969000	0.70422	2.779000	0.95612	0.591000	0.81541	CCT		0.378	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		8	157	0	0	0	1	0	8	157				
SLC6A19	340024	broad.mit.edu	37	5	1214088	1214088	+	Silent	SNP	G	G	A	rs201084108		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:1214088G>A	ENST00000304460.10	+	6	851	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGCCCAGCCGGACACCTGGC	0.657																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(793-795)ccG>ccA		solute carrier family 6 (neutral amino acid transporter), member 19							78.0	81.0	80.0					5																	1214088		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214088G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.795G>A	5.37:g.1214088G>A							p.P265P	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	851	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		265					A8K446	Silent	SNP	ENST00000304460.10	37	c.795G>A	CCDS34130.1																																																																																				0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		17	105	0	0	0	1	0	17	105				
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:70493873G>A	ENST00000035383.5	+	16	1730	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	LRRC7_ENST00000310961.5_Missense_Mutation_p.R572Q|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	567						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACCTAAAACGATATCCAACT	0.323																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1714-1716)cGa>cAa		leucine rich repeat containing 7							66.0	71.0	70.0					1																	70493873		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493873G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1700G>A	1.37:g.70493873G>A	ENSP00000035383:p.Arg567Gln					LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	p.R572Q			Q96NW7	LRRC7_HUMAN			19	2133	+			567					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1715G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912425	0.92178	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.13196	2.61;2.61	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.00870	-1.1533	10	0.62326	D	0.03	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	567	Q96NW7	LRRC7_HUMAN	Q	572;567;390	ENSP00000309245:R572Q;ENSP00000035383:R567Q	ENSP00000035383:R567Q	R	+	2	0	LRRC7	70266461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.812000	0.96745	0.557000	0.71058	CGA		0.323	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		7	163	0	0	0	1	0	7	163				
TMC8	147138	broad.mit.edu	37	17	76130015	76130015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:76130015G>A	ENST00000318430.5	+	7	1124	c.750G>A	c.(748-750)tgG>tgA	p.W250*	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Nonsense_Mutation_p.W27*	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	250					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTCCTCATGGGACTTCTGCA	0.592																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(748-750)tgG>tgA		transmembrane channel-like 8							64.0	64.0	64.0					17																	76130015		2202	4300	6502	SO:0001587	stop_gained	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76130015G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.750G>A	17.37:g.76130015G>A	ENSP00000325561:p.Trp250*					TMC8_ENST00000589691.1_Nonsense_Mutation_p.W27*	p.W250*	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		7	1124	+			250					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Nonsense_Mutation	SNP	ENST00000318430.5	37	c.750G>A	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	G	41	8.869108	0.98984	.	.	ENSG00000167895	ENST00000318430	.	.	.	3.94	3.94	0.45596	.	0.216242	0.43416	D	0.000565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6015	14.9751	0.71264	0.0:0.0:1.0:0.0	.	.	.	.	X	250	.	ENSP00000325561:W250X	W	+	3	0	TMC8	73641610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.234000	0.78134	2.033000	0.60031	0.558000	0.71614	TGG		0.592	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			5	70	0	0	0	1	0	5	70				
PKD1L2	114780	broad.mit.edu	37	16	81181080	81181080	+	RNA	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:81181080T>A	ENST00000525539.1	-	0	5010				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATGGCACCTTGAGAGCTTTG	0.547																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							71.0	74.0	73.0					16																	81181080		1999	4161	6160			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181080T>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181080T>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	5010	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			7	99	0	0	0	1	0	7	99				
AAAS	8086	broad.mit.edu	37	12	53715145	53715145	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53715145G>A	ENST00000209873.4	-	1	270	c.105C>T	c.(103-105)ccC>ccT	p.P35P	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Silent_p.P35P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGAAGTCGGGGGGCGGGCTCT	0.652																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(103-105)ccC>ccT		achalasia, adrenocortical insufficiency, alacrimia							65.0	74.0	71.0					12																	53715145		2203	4300	6503	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715145G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.105C>T	12.37:g.53715145G>A						AAAS_ENST00000394384.3_Silent_p.P35P|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	p.P35P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	270	-			35					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.105C>T	CCDS8856.1																																																																																				0.652	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			8	164	0	0	0	1	0	8	164				
BNC2	54796	broad.mit.edu	37	9	16435641	16435641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:16435641G>A	ENST00000380672.4	-	6	2608	c.2551C>T	c.(2551-2553)Cac>Tac	p.H851Y	BNC2_ENST00000545497.1_Missense_Mutation_p.H756Y|BNC2_ENST00000380666.2_Missense_Mutation_p.H851Y|BNC2_ENST00000380667.2_Missense_Mutation_p.H784Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCCTGTAGTGAAGTTTCACA	0.478																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2551-2553)Cac>Tac		basonuclin 2							70.0	67.0	68.0					9																	16435641		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435641G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2551C>T	9.37:g.16435641G>A	ENSP00000370047:p.His851Tyr					BNC2_ENST00000380667.2_Missense_Mutation_p.H784Y|BNC2_ENST00000380666.2_Missense_Mutation_p.H851Y|BNC2_ENST00000545497.1_Missense_Mutation_p.H756Y	p.H851Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2608	-			851						Missense_Mutation	SNP	ENST00000380672.4	37	c.2551C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951084	0.53186	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.76709	0.65;-1.04;-1.04;0.65;0.65;0.65	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.996;0.997;0.989;0.996;0.991;0.997;0.997;0.997	D;D;D;D;D;D;D;D	0.81914	0.986;0.992;0.979;0.986;0.982;0.992;0.995;0.992	D	0.94649	0.7837	10	0.87932	D	0	-17.8861	20.3368	0.98748	0.0:0.0:1.0:0.0	.	756;784;851;851;808;851;756;616	F5H586;B1APH0;Q6ZN30-2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;BNC2_HUMAN;.;.	Y	851;244;808;784;756;851;851	ENSP00000370047:H851Y;ENSP00000392212:H244Y;ENSP00000408370:H808Y;ENSP00000370042:H784Y;ENSP00000444640:H756Y;ENSP00000370041:H851Y	ENSP00000370041:H851Y	H	-	1	0	BNC2	16425641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CAC		0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		11	108	0	0	0	1	0	11	108				
TAF7L	54457	broad.mit.edu	37	X	100533088	100533088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:100533088C>T	ENST00000372907.3	-	8	795	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	TAF7L_ENST00000372905.2_Missense_Mutation_p.E176K|TAF7L_ENST00000324762.6_Missense_Mutation_p.E176K|TAF7L_ENST00000356784.1_Missense_Mutation_p.E176K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTTCATTTTCCACGTCTGGA	0.448																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(784-786)Gaa>Aaa		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							110.0	96.0	101.0					X																	100533088		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100533088C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.784G>A	X.37:g.100533088C>T	ENSP00000361998:p.Glu262Lys					TAF7L_ENST00000324762.6_Missense_Mutation_p.E176K|TAF7L_ENST00000356784.1_Missense_Mutation_p.E176K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E176K	p.E262K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			8	795	-			262					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.784G>A	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218867	0.79464	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38722	3.7;1.12;1.12;3.01	5.08	5.08	0.68730	TAFII55 protein, conserved region (1);Armadillo-like helical (1);	0.000000	0.44902	D	0.000415	T	0.74222	0.3688	M	0.93550	3.43	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82615	-0.0370	10	0.87932	D	0	-23.0728	17.785	0.88534	0.0:1.0:0.0:0.0	.	262;176	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	K	262;176;176;176	ENSP00000361998:E262K;ENSP00000361996:E176K;ENSP00000320283:E176K;ENSP00000349235:E176K	ENSP00000320283:E176K	E	-	1	0	TAF7L	100419744	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	7.086000	0.76885	2.218000	0.71995	0.600000	0.82982	GAA		0.448	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			6	40	0	0	0	1	0	6	40				
CDH10	1008	broad.mit.edu	37	5	24487975	24487975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:24487975C>T	ENST00000264463.4	-	12	2671	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	722					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)		GGGTCAAGATCATGCTCTTTT	0.443										HNSCC(23;0.051)																												ENST00000264463.4																			0				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						c.(2164-2166)Gat>Aat		cadherin 10, type 2 (T2-cadherin)							103.0	108.0	106.0					5																	24487975		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.chr5:24487975C>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.2164G>A	5.37:g.24487975C>T	ENSP00000264463:p.Asp722Asn	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.D722N	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2671	-			722					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2164G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362076	0.82353	.	.	ENSG00000040731	ENST00000264463	T	0.80653	-1.4	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.81179	2.53	0.58432	D	0.999993	D	0.56035	0.974	P	0.53988	0.739	D	0.87440	0.2394	10	0.46703	T	0.11	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	722	Q9Y6N8	CAD10_HUMAN	N	722	ENSP00000264463:D722N	ENSP00000264463:D722N	D	-	1	0	CDH10	24523732	1.000000	0.71417	0.983000	0.44433	0.797000	0.45037	7.702000	0.84576	2.809000	0.96659	0.655000	0.94253	GAT		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	128	0	0	0	1	0	13	128				
TJAP1	93643	broad.mit.edu	37	6	43472550	43472550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:43472550G>A	ENST00000372445.5	+	11	1007	c.631G>A	c.(631-633)Gag>Aag	p.E211K	TJAP1_ENST00000436109.2_Missense_Mutation_p.E201K|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.E201K|TJAP1_ENST00000372452.1_Missense_Mutation_p.E201K|TJAP1_ENST00000438588.2_Missense_Mutation_p.E211K|TJAP1_ENST00000372444.2_Missense_Mutation_p.E201K|TJAP1_ENST00000372449.1_Missense_Mutation_p.E211K	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	211					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTGGTCAAGAGGCCGCCAG	0.562																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(601-603)Gag>Aag		tight junction associated protein 1 (peripheral)							135.0	138.0	137.0					6																	43472550		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472550G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.631G>A	6.37:g.43472550G>A	ENSP00000361522:p.Glu211Lys					TJAP1_ENST00000372452.1_Missense_Mutation_p.E201K|TJAP1_ENST00000259751.1_Missense_Mutation_p.E201K|TJAP1_ENST00000372445.5_Missense_Mutation_p.E211K|TJAP1_ENST00000438588.2_Missense_Mutation_p.E211K|TJAP1_ENST00000436109.2_Missense_Mutation_p.E201K|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.E211K	p.E201K	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1034	+	all_lung(25;0.00536)		211					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.601G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143598	0.37825	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.38	4.46	0.54185	.	0.250409	0.42053	D	0.000770	T	0.18800	0.0451	L	0.28274	0.84	0.46078	D	0.998859	B;P	0.38078	0.4;0.617	B;B	0.34242	0.124;0.178	T	0.04664	-1.0935	10	0.15499	T	0.54	-48.1143	15.5375	0.76016	0.0:0.1384:0.8616:0.0	.	211;201	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	K	201;211;201;201;201;201;211;211	ENSP00000361521:E201K;ENSP00000361522:E211K;ENSP00000407080:E201K;ENSP00000259751:E201K;ENSP00000361530:E201K;ENSP00000361527:E211K;ENSP00000408769:E211K	ENSP00000259751:E201K	E	+	1	0	TJAP1	43580528	1.000000	0.71417	0.933000	0.37362	0.031000	0.12232	4.458000	0.60095	2.505000	0.84491	0.555000	0.69702	GAG		0.562	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		10	211	0	0	0	1	0	10	211				
RALGAPB	57148	broad.mit.edu	37	20	37187041	37187041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:37187041C>T	ENST00000262879.6	+	23	3760	c.3476C>T	c.(3475-3477)cCt>cTt	p.P1159L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1155L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P937L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1159L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1159	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.P1159H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCATGTCGTCCTTTTGACACA	0.378																																						ENST00000262879.6																			1	Substitution - Missense(1)	p.P1159H(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3475-3477)cCt>cTt		Ral GTPase activating protein, beta subunit (non-catalytic)							197.0	186.0	190.0					20																	37187041		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37187041C>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3476C>T	20.37:g.37187041C>T	ENSP00000262879:p.Pro1159Leu					RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1159L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1155L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P937L	p.P1159L			Q86X10	RLGPB_HUMAN			23	3760	+			1159			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3476C>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960212	0.92791	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.68	5.68	0.88126	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.94634	0.8270	L	0.31664	0.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.93845	0.7140	10	0.40728	T	0.16	.	20.1467	0.98079	0.0:1.0:0.0:0.0	.	1155;1159	A2A2E9;Q86X10	.;RLGPB_HUMAN	L	1159;1155;937;1159;987	ENSP00000262879:P1159L;ENSP00000380235:P1155L;ENSP00000380231:P937L;ENSP00000380233:P1159L;ENSP00000416646:P987L	ENSP00000262879:P1159L	P	+	2	0	RALGAPB	36620455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.235000	0.78143	2.838000	0.97847	0.655000	0.94253	CCT		0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		11	260	0	0	0	1	0	11	260				
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000448038.1_Silent_p.I1946I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5815-5817)atC>atT		spectrin repeat containing, nuclear envelope 1							108.0	105.0	106.0					6																	152737755		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152737755G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5817C>T	6.37:g.152737755G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I	p.I1939I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6418	-		Ovarian(120;0.0955)	1939					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.5817C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	176	0	0	0	1	0	11	176				
SHCBP1	79801	broad.mit.edu	37	16	46638354	46638354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:46638354C>T	ENST00000303383.3	-	6	975	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	237					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GGAACTCGGTCTTCAAGAATG	0.383																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(709-711)Gac>Aac		SHC SH2-domain binding protein 1							80.0	82.0	82.0					16																	46638354		2203	4299	6502	SO:0001583	missense	79801							g.chr16:46638354C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.709G>A	16.37:g.46638354C>T	ENSP00000306473:p.Asp237Asn						p.D237N	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			6	975	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	237					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.709G>A	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	C	5.255	0.232589	0.09969	.	.	ENSG00000171241	ENST00000303383	T	0.25250	1.81	4.13	3.18	0.36537	.	0.200591	0.49305	N	0.000144	T	0.21307	0.0513	L	0.47716	1.5	0.48135	D	0.999596	B	0.14012	0.009	B	0.14023	0.01	T	0.04678	-1.0934	10	0.38643	T	0.18	-11.2342	9.2409	0.37495	0.0:0.7562:0.1571:0.0867	.	237	Q8NEM2	SHCBP_HUMAN	N	237	ENSP00000306473:D237N	ENSP00000306473:D237N	D	-	1	0	SHCBP1	45195855	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	3.982000	0.56909	1.091000	0.41335	0.460000	0.39030	GAC		0.383	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		10	137	0	0	0	1	0	10	137				
MYO9A	4649	broad.mit.edu	37	15	72338841	72338841	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:72338841G>A	ENST00000356056.5	-	2	536	c.64C>T	c.(64-66)Cct>Tct	p.P22S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P22S|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.P22S|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.P22S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	22	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAGCCCCAGGATATATCCGT	0.398																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(64-66)Cct>Tct		myosin IXA							136.0	136.0	136.0					15																	72338841		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338841G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.64C>T	15.37:g.72338841G>A	ENSP00000348349:p.Pro22Ser					MYO9A_ENST00000444904.1_Missense_Mutation_p.P22S|MYO9A_ENST00000424560.1_Missense_Mutation_p.P22S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.P22S	p.P22S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	536	-			22			Ras-associating.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.64C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.445466	0.84101	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.16897	2.31;2.31;2.31	5.33	5.33	0.75918	Ras-association (3);	.	.	.	.	T	0.45518	0.1346	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;0.996;1.0	T	0.35798	-0.9774	9	0.45353	T	0.12	.	18.6761	0.91529	0.0:0.0:1.0:0.0	.	22;22;22	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	S	22	ENSP00000348349:P22S;ENSP00000399162:P22S;ENSP00000398250:P22S	ENSP00000261864:P22S	P	-	1	0	MYO9A	70125895	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.768000	0.98965	2.502000	0.84385	0.454000	0.30748	CCT		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		11	198	0	0	0	1	0	11	198				
GRIA2	2891	broad.mit.edu	37	4	158262422	158262422	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:158262422C>T	ENST00000264426.9	+	12	2130	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	GRIA2_ENST00000393815.2_Silent_p.L570L|GRIA2_ENST00000296526.7_Silent_p.L617L|GRIA2_ENST00000507898.1_Silent_p.L570L|GRIA2_ENST00000449365.1_Silent_p.L570L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	617					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTAGATCCCTCTCTGGGCGCA	0.403																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1849-1851)ctC>ctT		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						145.0	143.0	143.0					4																	158262422		2203	4299	6502	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158262422C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1851C>T	4.37:g.158262422C>T						GRIA2_ENST00000507898.1_Silent_p.L570L|GRIA2_ENST00000393815.2_Silent_p.L570L|GRIA2_ENST00000264426.9_Silent_p.L617L|GRIA2_ENST00000449365.1_Silent_p.L570L	p.L617L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	12	2176	+	all_hematologic(180;0.24)	Renal(120;0.0458)	617					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.1851C>T	CCDS43274.1																																																																																				0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			20	182	0	0	0	1	0	20	182				
C8orf76	84933	broad.mit.edu	37	8	124243864	124243864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:124243864G>A	ENST00000276704.4	-	4	542	c.491C>T	c.(490-492)cCt>cTt	p.P164L	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.P132L	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	164										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGTTCCAAGGATTAAAAGG	0.453																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(490-492)cCt>cTt		chromosome 8 open reading frame 76							109.0	116.0	114.0					8																	124243864		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243864G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.491C>T	8.37:g.124243864G>A	ENSP00000276704:p.Pro164Leu					ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.P132L|C8orf76_ENST00000521310.1_5'UTR	p.P164L	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	542	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		164					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.491C>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729491	0.89390	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.21361	2.01;2.01	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);	0.046426	0.85682	D	0.000000	T	0.50343	0.1610	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.974	T	0.50759	-0.8790	10	0.72032	D	0.01	-3.2735	19.5461	0.95297	0.0:0.0:1.0:0.0	.	132;164	Q96EF9;Q96K31	.;CH076_HUMAN	L	164;132	ENSP00000276704:P164L;ENSP00000349593:P132L	ENSP00000276704:P164L	P	-	2	0	C8orf76	124313045	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.894000	0.75655	2.715000	0.92844	0.655000	0.94253	CCT		0.453	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		15	205	0	0	0	1	0	15	205				
MYOCD	93649	broad.mit.edu	37	17	12626229	12626229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:12626229G>A	ENST00000343344.4	+	5	319	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_ENST00000425538.1_Missense_Mutation_p.D107N|AC005358.1_ENST00000609971.1_Missense_Mutation_p.D11N|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	107					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTCGCCGATGATCTCAATGA	0.458																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(319-321)Gat>Aat		myocardin							136.0	142.0	140.0					17																	12626229		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626229G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.319G>A	17.37:g.12626229G>A	ENSP00000341835:p.Asp107Asn					MYOCD_ENST00000343344.4_Missense_Mutation_p.D107N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D11N	p.D107N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	519	+			107					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.319G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066149	0.55539	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.51817	0.69	5.46	5.46	0.80206	.	0.183072	0.48767	D	0.000167	T	0.38427	0.1040	L	0.41492	1.28	0.46901	D	0.999242	P;B;B	0.35793	0.521;0.017;0.021	B;B;B	0.33121	0.158;0.011;0.014	T	0.29366	-1.0014	10	0.52906	T	0.07	-24.1543	12.1964	0.54300	0.0806:0.0:0.9194:0.0	.	11;107;107	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	N	107;107;11	ENSP00000341835:D107N	ENSP00000341835:D107N	D	+	1	0	MYOCD	12566954	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.797000	0.55514	2.840000	0.97914	0.655000	0.94253	GAT		0.458	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		25	228	0	0	0	1	0	25	228				
MLPH	79083	broad.mit.edu	37	2	238434337	238434337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238434337C>A	ENST00000264605.3	+	7	1063	c.769C>A	c.(769-771)Cat>Aat	p.H257N	MLPH_ENST00000445024.2_Missense_Mutation_p.H257N|MLPH_ENST00000409373.1_Missense_Mutation_p.H217N|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257N|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTGCCACTCCCATCCGGAAGA	0.652																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(769-771)Cat>Aat		melanophilin							52.0	54.0	53.0					2																	238434337		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238434337C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.769C>A	2.37:g.238434337C>A	ENSP00000264605:p.His257Asn					MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217N|MLPH_ENST00000445024.2_Missense_Mutation_p.H257N|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257N	p.H257N	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	7	1063	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	257					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.769C>A	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.445	-0.113243	0.06881	.	.	ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T	0.25912	2.1;2.09;1.98;1.77	3.35	-1.04	0.10068	.	1.889860	0.03342	U	0.194952	T	0.18635	0.0447	L	0.48642	1.525	0.09310	N	1	B;P;P;P;P;B	0.44734	0.304;0.842;0.565;0.763;0.692;0.432	B;B;B;B;B;B	0.39027	0.072;0.236;0.108;0.288;0.217;0.07	T	0.15954	-1.0419	10	0.16420	T	0.52	0.5924	2.113	0.03707	0.1953:0.3344:0.3526:0.1177	.	257;141;257;217;257;257	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36	.;.;.;.;.;MELPH_HUMAN	N	257;257;257;217	ENSP00000264605:H257N;ENSP00000414849:H257N;ENSP00000341845:H257N;ENSP00000386780:H217N	ENSP00000264605:H257N	H	+	1	0	MLPH	238099076	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.097000	0.03349	-0.211000	0.10124	0.563000	0.77884	CAT		0.652	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		5	69	1	0	5.9392e-07	1	6.05664e-07	5	69				
FBXO7	25793	broad.mit.edu	37	22	32894343	32894343	+	Silent	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:32894343T>A	ENST00000266087.7	+	9	1722	c.1395T>A	c.(1393-1395)atT>atA	p.I465I	FBXO7_ENST00000397426.1_Silent_p.I351I|FBXO7_ENST00000382058.3_Silent_p.I386I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	465	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTCACTCATTCCTGGTCCTG	0.557																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1393-1395)atT>atA		F-box protein 7							101.0	94.0	96.0					22																	32894343		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894343T>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1395T>A	22.37:g.32894343T>A						FBXO7_ENST00000397426.1_Silent_p.I351I|FBXO7_ENST00000382058.3_Silent_p.I386I	p.I465I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1722	+			465					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.1395T>A	CCDS13907.1																																																																																				0.557	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			9	134	0	0	0	1	0	9	134				
GTF2IRD1	9569	broad.mit.edu	37	7	73933772	73933772	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:73933772C>T	ENST00000265755.3	+	6	1032	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GTF2IRD1_ENST00000455841.2_Silent_p.A245A|GTF2IRD1_ENST00000476977.1_Silent_p.A213A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.A213A	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	213					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTCGAAGGCCCTGGTGGAGC	0.617																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(637-639)gcC>gcT		GTF2I repeat domain containing 1							109.0	114.0	112.0					7																	73933772		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73933772C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.639C>T	7.37:g.73933772C>T						GTF2IRD1_ENST00000265755.3_Silent_p.A213A|GTF2IRD1_ENST00000455841.2_Silent_p.A245A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.A213A	p.A213A			Q9UHL9	GT2D1_HUMAN			6	2330	+			213					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.639C>T	CCDS5571.1																																																																																				0.617	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		8	187	0	0	0	1	0	8	187				
HCN1	348980	broad.mit.edu	37	5	45267254	45267254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:45267254C>T	ENST00000303230.4	-	7	1777	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	574					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATATTCCTCCAGGACCTCG	0.423																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1720-1722)Gag>Aag		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							156.0	144.0	148.0					5																	45267254		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267254C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1720G>A	5.37:g.45267254C>T	ENSP00000307342:p.Glu574Lys						p.E574K	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1777	-			574						Missense_Mutation	SNP	ENST00000303230.4	37	c.1720G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253053	0.95336	.	.	ENSG00000164588	ENST00000303230	D	0.92911	-3.13	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.88407	0.6428	N	0.21282	0.65	0.80722	D	1	B	0.33238	0.403	B	0.34093	0.175	D	0.87329	0.2323	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	574	O60741	HCN1_HUMAN	K	574	ENSP00000307342:E574K	ENSP00000307342:E574K	E	-	1	0	HCN1	45303011	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	GAG		0.423	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	147	0	0	0	1	0	7	147				
SLC1A2	6506	broad.mit.edu	37	11	35313888	35313888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:35313888G>A	ENST00000278379.3	-	7	1319	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLC1A2_ENST00000606205.1_Missense_Mutation_p.S346F|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S337F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	346					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)	p.S346F(1)		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)			AGCAAAAAAGGAGAAGGGGTT	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			1	Substitution - Missense(1)	p.S346F(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1036-1038)tCc>tTc		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						192.0	197.0	195.0					11																	35313888		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.chr11:35313888G>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.1037C>T	11.37:g.35313888G>A	ENSP00000278379:p.Ser346Phe					SLC1A2_ENST00000395750.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000606205.1_Missense_Mutation_p.S346F	p.S346F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1319	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	346					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1037C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.69|16.69	3.191969|3.191969	0.58017|0.58017	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000531628|ENST00000278379;ENST00000395750;ENST00000395753	.|T;T;T	.|0.59502	.|0.26;0.26;0.26	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.277760	.|0.41294	.|D	.|0.000909	T|T	0.53270|0.53270	0.1786|0.1786	L|L	0.31752|0.31752	0.955|0.955	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B	.|0.39044	.|0.656;0.085	.|B;B	.|0.41619	.|0.361;0.197	T|T	0.56613|0.56613	-0.7950|-0.7950	5|10	.|0.54805	.|T	.|0.06	-10.6418|-10.6418	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|346;346	.|B4DQE9;P43004	.|.;EAA2_HUMAN	S|F	64|346;337;337	.|ENSP00000278379:S346F;ENSP00000379099:S337F;ENSP00000379102:S337F	.|ENSP00000278379:S346F	P|S	-|-	1|2	0|0	SLC1A2|SLC1A2	35270464|35270464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.501000|6.501000	0.73691|0.73691	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		11	293	0	0	0	1	0	11	293				
KMT2B	9757	broad.mit.edu	37	19	36214841	36214841	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:36214841C>T	ENST00000222270.7	+	8	3267	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	KMT2B_ENST00000420124.1_Silent_p.F1089F|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1089					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGATATCTTCGAGGATTCGG	0.627																																						ENST00000420124.1																			0											c.(3265-3267)ttC>ttT									15.0	19.0	18.0					19																	36214841		1833	4028	5861	SO:0001819	synonymous_variant	9757							g.chr19:36214841C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3267C>T	19.37:g.36214841C>T						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.F1089F	p.F1089F							8	3267	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3267C>T	CCDS46055.1																																																																																				0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	27	0	0	0	1	0	4	27				
FSTL5	56884	broad.mit.edu	37	4	162697226	162697226	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:162697226C>T	ENST00000306100.5	-	5	846	c.410G>A	c.(409-411)gGa>gAa	p.G137E	FSTL5_ENST00000427802.2_Splice_Site_p.G136E|FSTL5_ENST00000536695.1_Splice_Site_p.G136E|FSTL5_ENST00000379164.4_Splice_Site_p.G136E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACTTATCTCCTGTAACAAA	0.239																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.e5-1		follistatin-like 5							32.0	31.0	31.0					4																	162697226		2198	4288	6486	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162697226C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.410-1G>A	4.37:g.162697226C>T						FSTL5_ENST00000379164.4_Splice_Site_p.G136_splice|FSTL5_ENST00000427802.2_Splice_Site_p.G136_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G136_splice	p.G137_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	846	-	all_hematologic(180;0.24)		137					E9PCP6|Q9NSW7|Q9ULF7	Splice_Site	SNP	ENST00000306100.5	37	c.409_splice	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587922	0.66105	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71817	-0.58;-0.56;-0.6;-0.56	5.3	5.3	0.74995	.	0.107329	0.64402	D	0.000005	T	0.71550	0.3353	M	0.66939	2.045	0.51233	D	0.99991	B;B;B	0.17465	0.022;0.012;0.012	B;B;B	0.20577	0.03;0.015;0.02	T	0.68716	-0.5335	10	0.51188	T	0.08	.	18.3021	0.90167	0.0:1.0:0.0:0.0	.	136;136;137	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	137;136;136;136	ENSP00000305334:G137E;ENSP00000368462:G136E;ENSP00000389270:G136E;ENSP00000440409:G136E	ENSP00000305334:G137E	G	-	2	0	FSTL5	162916676	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	4.288000	0.59007	2.625000	0.88918	0.650000	0.86243	GGA		0.239	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Missense_Mutation	7	39	0	0	0	1	0	7	39				
DGCR8	54487	broad.mit.edu	37	22	20074784	20074784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:20074784C>T	ENST00000351989.3	+	3	1249	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.P274S|DGCR8_ENST00000407755.1_Missense_Mutation_p.P274S|MIR3618_ENST00000580330.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	274	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			P -> L (in Ref. 3). {ECO:0000305}.	gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGCGACCATCCGTCCGATGG	0.517																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(820-822)Ccg>Tcg		DGCR8 microprocessor complex subunit							146.0	113.0	125.0					22																	20074784		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074784C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.820C>T	22.37:g.20074784C>T	ENSP00000263209:p.Pro274Ser					DGCR8_ENST00000407755.1_Missense_Mutation_p.P274S|DGCR8_ENST00000383024.2_Missense_Mutation_p.P274S	p.P274S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			3	1249	+	Colorectal(54;0.0993)		274	P -> L (in Ref. 3).		Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.820C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778905	0.49891	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.30448	1.54;1.53;1.53	5.93	3.7	0.42460	.	0.274240	0.42294	D	0.000721	T	0.19127	0.0459	N	0.14661	0.345	0.37842	D	0.929084	B;B	0.15473	0.013;0.002	B;B	0.13407	0.009;0.004	T	0.07195	-1.0785	10	0.20519	T	0.43	-1.904	15.6796	0.77357	0.0:0.7203:0.2797:0.0	.	274;274	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	S	274	ENSP00000263209:P274S;ENSP00000372488:P274S;ENSP00000384726:P274S	ENSP00000263209:P274S	P	+	1	0	DGCR8	18454784	0.674000	0.27549	0.958000	0.39756	0.783000	0.44284	3.015000	0.49599	1.486000	0.48398	0.561000	0.74099	CCG		0.517	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			6	90	0	0	0	1	0	6	90				
MUC16	94025	broad.mit.edu	37	19	9077258	9077258	+	Silent	SNP	G	G	A	rs192955451	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9077258G>A	ENST00000397910.4	-	3	10391	c.10188C>T	c.(10186-10188)acC>acT	p.T3396T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3397	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATGGCTGTGGTGCTTACCC	0.438													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		21845	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10186-10188)acC>acT		mucin 16, cell surface associated		G		4,3962		0,4,1979	261.0	248.0	252.0		10188	0.9	0.0	19		252	0,8350		0,0,4175	no	coding-synonymous	MUC16	NM_024690.2		0,4,6154	AA,AG,GG		0.0,0.1009,0.0325		3396/14508	9077258	4,12312	1983	4175	6158	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077258G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10188C>T	19.37:g.9077258G>A							p.T3396T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	10391	-			3397			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.10188C>T	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	295	0	0	0	1	0	15	295				
TPRA1	131601	broad.mit.edu	37	3	127298653	127298653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:127298653C>T	ENST00000355552.3	-	3	564	c.188G>A	c.(187-189)tGg>tAg	p.W63*	TPRA1_ENST00000489960.1_Nonsense_Mutation_p.W63*|TPRA1_ENST00000296210.7_Nonsense_Mutation_p.W63*|TPRA1_ENST00000450633.2_Nonsense_Mutation_p.W63*	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	63					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TGGAAGCTTCCAGAGCAGGAA	0.567																																						ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(187-189)tGg>tAg		transmembrane protein, adipocyte asscociated 1							87.0	91.0	90.0					3																	127298653		2203	4300	6503	SO:0001587	stop_gained	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127298653C>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.188G>A	3.37:g.127298653C>T	ENSP00000347748:p.Trp63*					TPRA1_ENST00000489960.1_Nonsense_Mutation_p.W63*|TPRA1_ENST00000450633.2_Nonsense_Mutation_p.W63*|TPRA1_ENST00000296210.7_Nonsense_Mutation_p.W63*	p.W63*	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			3	564	-			63					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Nonsense_Mutation	SNP	ENST00000355552.3	37	c.188G>A	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	C	38	7.174518	0.98114	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	5.09	5.09	0.68999	.	0.054165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5373	18.8562	0.92254	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000296210:W63X	W	-	2	0	TPRA1	128781343	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.381000	0.79718	2.511000	0.84671	0.655000	0.94253	TGG		0.567	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		4	67	0	0	0	1	0	4	67				
TFEB	7942	broad.mit.edu	37	6	41653837	41653837	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:41653837G>A	ENST00000230323.4	-	9	1243	c.942C>T	c.(940-942)ctC>ctT	p.L314L	AL035588.1_ENST00000597468.1_5'Flank|TFEB_ENST00000373033.1_Silent_p.L314L|TFEB_ENST00000403298.4_Silent_p.L314L|TFEB_ENST00000420312.1_Silent_p.L229L|TFEB_ENST00000358871.2_Silent_p.L328L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	314	Leucine-zipper.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCTGGATACGGAGCCAGAGCT	0.542			T	ALPHA	renal (childhood epithelioid)																																	ENST00000230323.4				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(940-942)ctC>ctT		transcription factor EB							126.0	107.0	114.0					6																	41653837		2203	4300	6503	SO:0001819	synonymous_variant	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41653837G>A	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.942C>T	6.37:g.41653837G>A						TFEB_ENST00000373033.1_Silent_p.L314L|TFEB_ENST00000403298.4_Silent_p.L314L|TFEB_ENST00000420312.1_Silent_p.L229L|TFEB_ENST00000358871.2_Silent_p.L328L	p.L314L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1243	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		314			Leucine-zipper.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	ENST00000230323.4	37	c.942C>T	CCDS4858.1																																																																																				0.542	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			5	90	0	0	0	1	0	5	90				
C1orf168	199920	broad.mit.edu	37	1	57192188	57192188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:57192188C>T	ENST00000343433.6	-	16	1942	c.1862G>A	c.(1861-1863)gGt>gAt	p.G621D	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	621										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTTCAGCACCGTTTTTCTC	0.373																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1861-1863)gGt>gAt		chromosome 1 open reading frame 168							149.0	142.0	144.0					1																	57192188		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57192188C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1862G>A	1.37:g.57192188C>T	ENSP00000345972:p.Gly621Asp						p.G621D	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			16	1942	-			621					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1862G>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996293	0.02145	.	.	ENSG00000187889	ENST00000343433	T	0.28895	1.59	4.31	-3.59	0.04583	.	2.147660	0.01907	N	0.039579	T	0.19127	0.0459	L	0.31294	0.92	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.12656	-1.0539	10	0.36615	T	0.2	4.7804	1.1378	0.01758	0.1384:0.2315:0.3206:0.3095	.	621	Q5VWT5	CA168_HUMAN	D	621	ENSP00000345972:G621D	ENSP00000345972:G621D	G	-	2	0	C1orf168	56964776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.455000	0.06762	-0.404000	0.07610	-0.345000	0.07892	GGT		0.373	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		6	119	0	0	0	1	0	6	119				
FAM135B	51059	broad.mit.edu	37	8	139158236	139158236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:139158236C>T	ENST00000395297.1	-	15	3676	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1169										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCAGTTTTCCTCCAGGGAG	0.453										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3505-3507)gGa>gAa		family with sequence similarity 135, member B							87.0	91.0	90.0					8																	139158236		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139158236C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3506G>A	8.37:g.139158236C>T	ENSP00000378710:p.Gly1169Glu	HNSCC(54;0.14)					p.G1169E	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3676	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1169					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3506G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590762	0.86851	.	.	ENSG00000147724	ENST00000395297	T	0.41400	1.0	5.81	5.81	0.92471	Domain of unknown function DUF676, lipase-like (1);	0.156699	0.44902	D	0.000409	T	0.47655	0.1457	N	0.12961	0.28	0.45634	D	0.998567	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.51004	-0.8760	10	0.56958	D	0.05	-16.0463	14.6351	0.68682	0.0:0.8549:0.1451:0.0	.	1169;1169	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	E	1169	ENSP00000378710:G1169E	ENSP00000378710:G1169E	G	-	2	0	FAM135B	139227418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.274000	0.58921	2.745000	0.94114	0.655000	0.94253	GGA		0.453	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	117	0	0	0	1	0	7	117				
SAFB	6294	broad.mit.edu	37	19	5626462	5626462	+	Missense_Mutation	SNP	C	C	T	rs200617108		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:5626462C>T	ENST00000292123.5	+	2	343	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SAFB_ENST00000588852.1_Missense_Mutation_p.S79F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.S79F|SAFB_ENST00000454510.1_Missense_Mutation_p.S79F|SAFB_ENST00000538656.1_Missense_Mutation_p.P13S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	79					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAAATTACCTCCGAGGGAAAC	0.373																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(235-237)tCc>tTc		scaffold attachment factor B							129.0	125.0	126.0					19																	5626462		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5626462C>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.236C>T	19.37:g.5626462C>T	ENSP00000292123:p.Ser79Phe					SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.S79F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Missense_Mutation_p.S79F|SAFB_ENST00000538656.1_Missense_Mutation_p.P13S|SAFB_ENST00000592224.1_Missense_Mutation_p.S79F	p.S79F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	2	343	+			79					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.236C>T	CCDS12142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.783850|2.783850	0.49891|0.49891	.|.	.|.	ENSG00000160633|ENSG00000160633	ENST00000538656|ENST00000454510;ENST00000540206;ENST00000292123	T|T;T	0.09630|0.11169	2.96|2.8;2.81	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.45867	.|D	.|0.000321	T|T	0.26195|0.26195	0.0639|0.0639	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|P;D;D;D;D;D	0.53151|0.65815	0.958|0.876;0.984;0.995;0.97;0.964;0.97	B|P;P;D;P;P;P	0.44108|0.72982	0.441|0.79;0.851;0.979;0.851;0.791;0.851	T|T	0.01053|0.01053	-1.1467|-1.1467	9|10	0.72032|0.56958	D|D	0.01|0.05	-3.4438|-3.4438	17.0929|17.0929	0.86627|0.86627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	13|79;79;79;79;79;79	B7Z2F6|F5H0H3;B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.|.;.;.;.;SAFB1_HUMAN;.	S|F	13|79	ENSP00000438880:P13S|ENSP00000415895:S79F;ENSP00000292123:S79F	ENSP00000438880:P13S|ENSP00000292123:S79F	P|S	+|+	1|2	0|0	SAFB|SAFB	5577462|5577462	0.832000|0.832000	0.29368|0.29368	0.845000|0.845000	0.33349|0.33349	0.406000|0.406000	0.30931|0.30931	2.875000|2.875000	0.48491|0.48491	2.368000|2.368000	0.80403|0.80403	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.373	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			7	91	0	0	0	1	0	7	91				
OGDHL	55753	broad.mit.edu	37	10	50954859	50954859	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:50954859G>A	ENST00000374103.4	-	10	1318	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	OGDHL_ENST00000432695.1_Silent_p.F202F|OGDHL_ENST00000419399.1_Silent_p.F354F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	411					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCTCAGGTGGAAGGTCTCAT	0.627																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1231-1233)ttC>ttT		oxoglutarate dehydrogenase-like							147.0	101.0	117.0					10																	50954859		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50954859G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1233C>T	10.37:g.50954859G>A						OGDHL_ENST00000419399.1_Silent_p.F354F|OGDHL_ENST00000432695.1_Silent_p.F202F	p.F411F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			10	1318	-			411					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1233C>T	CCDS7234.1																																																																																				0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		6	61	0	0	0	1	0	6	61				
SLC38A4	55089	broad.mit.edu	37	12	47170742	47170742	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:47170742C>T	ENST00000447411.1	-	12	1325	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	SLC38A4_ENST00000266579.4_Silent_p.T373T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	373					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAAGCATCCCCGTGATGGAAA	0.403																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1117-1119)acG>acA		solute carrier family 38, member 4							128.0	126.0	126.0					12																	47170742		2203	4299	6502	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47170742C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1119G>A	12.37:g.47170742C>T						SLC38A4_ENST00000266579.4_Silent_p.T373T	p.T373T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			12	1325	-	Lung SC(27;0.192)|Renal(347;0.236)		373					A8K553	Silent	SNP	ENST00000447411.1	37	c.1119G>A	CCDS8750.1																																																																																				0.403	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			9	135	0	0	0	1	0	9	135				
ROS1	6098	broad.mit.edu	37	6	117650566	117650566	+	Silent	SNP	C	C	T	rs563125455	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:117650566C>T	ENST00000368508.3	-	32	5490	c.5292G>A	c.(5290-5292)ggG>ggA	p.G1764G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.G1758G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1764	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTTTTACTCCCTTCTAGTA	0.338			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								C|||	2	0.000399361	0.0	0.0029	5008	,	,		17782	0.0		0.0	False		,,,				2504	0.0					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5290-5292)ggG>ggA		c-ros oncogene 1 , receptor tyrosine kinase							130.0	128.0	128.0					6																	117650566		2203	4299	6502	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117650566C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5292G>A	6.37:g.117650566C>T						ROS1_ENST00000368507.3_Silent_p.G1758G|GOPC_ENST00000467125.1_Intron	p.G1764G	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	32	5490	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1764			Fibronectin type-III 9.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.5292G>A	CCDS5116.1																																																																																				0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			10	134	0	0	0	1	0	10	134				
ARHGEF10	9639	broad.mit.edu	37	8	1808169	1808169	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:1808169C>T	ENST00000398564.1	+	4	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	ARHGEF10_ENST00000262112.6_Silent_p.F124F|ARHGEF10_ENST00000398560.1_Silent_p.F124F|ARHGEF10_ENST00000518288.1_Silent_p.F124F|ARHGEF10_ENST00000349830.3_Silent_p.F100F|ARHGEF10_ENST00000520359.1_Silent_p.F100F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	124					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCACGCCATTCCAGGAGGACC	0.602																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(370-372)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 10							141.0	125.0	130.0					8																	1808169		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808169C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.372C>T	8.37:g.1808169C>T						ARHGEF10_ENST00000398560.1_Silent_p.F124F|ARHGEF10_ENST00000262112.6_Silent_p.F124F|ARHGEF10_ENST00000398564.1_Silent_p.F124F|ARHGEF10_ENST00000520359.1_Silent_p.F100F|ARHGEF10_ENST00000349830.3_Silent_p.F100F	p.F124F			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	5	535	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	124					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.372C>T																																																																																					0.602	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				6	115	0	0	0	1	0	6	115				
DCSTAMP	81501	broad.mit.edu	37	8	105361229	105361229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:105361229G>A	ENST00000297581.2	+	2	498	c.449G>A	c.(448-450)tGg>tAg	p.W150*	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.W150*	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	150					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.W150L(1)									GCAATTCAGTGGATTTATGGC	0.423																																						ENST00000297581.2																			1	Substitution - Missense(1)	p.W150L(1)	kidney(1)								c.(448-450)tGg>tAg		dendrocyte expressed seven transmembrane protein							84.0	87.0	86.0					8																	105361229		2203	4300	6503	SO:0001587	stop_gained	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361229G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.449G>A	8.37:g.105361229G>A	ENSP00000297581:p.Trp150*					DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.W150*|DPYS_ENST00000521601.1_Intron	p.W150*	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	498	+			150					B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	c.449G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017297	0.93404	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.84	5.84	0.93424	.	0.170871	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7823	18.3185	0.90229	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	.	W	+	2	0	TM7SF4	105430405	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.261000	0.72509	2.779000	0.95612	0.655000	0.94253	TGG		0.423	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		8	141	0	0	0	1	0	8	141				
YIPF1	54432	broad.mit.edu	37	1	54344378	54344378	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:54344378C>T	ENST00000072644.1	-	5	549	c.213G>A	c.(211-213)aaG>aaA	p.K71K	YIPF1_ENST00000539954.1_Silent_p.K96K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	71						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GGGAGCTTTTCTTCTGTCCAG	0.403																																						ENST00000072644.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.(211-213)aaG>aaA		Yip1 domain family, member 1							83.0	86.0	85.0					1																	54344378		2203	4300	6503	SO:0001819	synonymous_variant	54432					integral to membrane|transport vesicle		g.chr1:54344378C>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.213G>A	1.37:g.54344378C>T						YIPF1_ENST00000539954.1_Silent_p.K96K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR	p.K71K	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN			5	549	-			71					B2RCM7|D3DQ40|Q9NWJ1	Silent	SNP	ENST00000072644.1	37	c.213G>A	CCDS584.1																																																																																				0.403	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		5	71	0	0	0	1	0	5	71				
DCTN1	1639	broad.mit.edu	37	2	74598189	74598189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:74598189G>A	ENST00000361874.3	-	9	1077	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	DCTN1_ENST00000394003.3_Nonsense_Mutation_p.Q247*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.Q234*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.Q217*|DCTN1_ENST00000409868.1_Nonsense_Mutation_p.Q237*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.Q120*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGCTCCAGCTGGATTTTGTGT	0.542																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(760-762)Cag>Tag		dynactin 1							240.0	252.0	248.0					2																	74598189		2203	4300	6503	SO:0001587	stop_gained	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598189G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.760C>T	2.37:g.74598189G>A	ENSP00000354791:p.Gln254*					DCTN1_ENST00000409868.1_Nonsense_Mutation_p.Q237*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.Q217*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.Q247*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.Q234*	p.Q254*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	1077	-			254					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Nonsense_Mutation	SNP	ENST00000361874.3	37	c.760C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	38	6.968440	0.97971	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	.	.	.	5.66	5.66	0.87406	.	0.000000	0.41097	D	0.000949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6127	18.5054	0.90896	0.0:0.0:1.0:0.0	.	.	.	.	X	254;247;237;120;120;217;237;234	.	ENSP00000354791:Q254X	Q	-	1	0	DCTN1	74451697	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.555000	0.98123	2.661000	0.90470	0.655000	0.94253	CAG		0.542	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		24	470	0	0	0	1	0	24	470				
CHD4	1108	broad.mit.edu	37	12	6692098	6692098	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6692098G>A	ENST00000357008.2	-	28	4315	c.4152C>T	c.(4150-4152)ccC>ccT	p.P1384P	SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.P1377P|CHD4_ENST00000544484.1_Silent_p.P1409P|CHD4_ENST00000309577.6_Silent_p.P1412P|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1384					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGGGCCTACGGGGAGCTGCAA	0.453																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4234-4236)ccC>ccT		chromodomain helicase DNA binding protein 4							95.0	99.0	97.0					12																	6692098		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692098G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4152C>T	12.37:g.6692098G>A						RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000357008.2_Silent_p.P1384P|CHD4_ENST00000544040.1_Silent_p.P1377P|CHD4_ENST00000544484.1_Silent_p.P1409P	p.P1412P			Q14839	CHD4_HUMAN			27	4399	-			1384					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.4236C>T	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		12	168	0	0	0	1	0	12	168				
EPB41	2035	broad.mit.edu	37	1	29323785	29323785	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:29323785delA	ENST00000343067.4	+	4	867	c.740delA	c.(739-741)gaafs	p.E248fs	EPB41_ENST00000349460.4_Frame_Shift_Del_p.E39fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000398863.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373800.3_Frame_Shift_Del_p.E39fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000347529.3_Intron	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	248	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AATCTTTTGGAAGAAGACTAT	0.363																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(739-741)gafs		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							157.0	146.0	150.0					1																	29323785		2203	4300	6503	SO:0001589	frameshift_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29323785delA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.740delA	1.37:g.29323785delA	ENSP00000345259:p.Glu248fs					EPB41_ENST00000347529.3_Intron|EPB41_ENST00000398863.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373800.3_Frame_Shift_Del_p.E39fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000349460.4_Frame_Shift_Del_p.E39fs	p.E248fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	4	867	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	248			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Frame_Shift_Del	DEL	ENST00000343067.4	37	c.740delA	CCDS53288.1																																																																																				0.363	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		8	144						8	144	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	71						7	71	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	69						7	69	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	5						3	5	---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137627761	137627761	+	Frame_Shift_Del	DEL	G	G	-	rs200825916	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:137627761delG	ENST00000323760.6	-	8	938	c.660delC	c.(658-660)aacfs	p.N220fs	CDC25C_ENST00000348983.3_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.N177fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.N220fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.N190fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	220					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCTGTTCAAGTTCTCTGGCA	0.448																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(658-660)aafs		cell division cycle 25C							148.0	153.0	151.0					5																	137627761		2203	4300	6503	SO:0001589	frameshift_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137627761delG	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.660delC	5.37:g.137627761delG	ENSP00000321656:p.Asn220fs					CDC25C_ENST00000357274.3_Frame_Shift_Del_p.N177fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.N220fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.N147fs	p.N220fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	938	-			220					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Frame_Shift_Del	DEL	ENST00000323760.6	37	c.660delC	CCDS4202.1																																																																																				0.448	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			8	203						8	203	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29999373	29999374	+	RNA	DEL	AG	AG	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:29999373_29999374delAG	ENST00000376797.3	-	0	530				ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		agaaaaaaaaagagagagagag	0.332																																						ENST00000444051.1																			0																																																			80862							g.chr6:29999373_29999374delAG	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29999383_29999384delAG						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA		NR_103542.1						0	108	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.332	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		2	4						2	4	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGAAGGCTACCTCCTGTAAGAA	0.356																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521843_32521844delCT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521843_32521844delCT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.356	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	7						4	7	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	5'UTR	INS	-	-	CTG	rs545748113|rs528988883	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:114292109_114292110insCTG	ENST00000519065.1	-	0	339_340				RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000520891.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Ins_p.81_82insS|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688														365	0.0728834	0.0227	0.1297	5008	,	,		15962	0.0258		0.1034	False		,,,				2504	0.1176					ENST00000398283.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(244-246)aag>aCAGag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292109_114292110insCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-38->CAG	6.37:g.114292116_114292118dupCTG						RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000449620.2_RNA	p.82_82K>TE	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	249_250	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Ins	INS	ENST00000519065.1	37	c.245_246insCAG	CCDS43493.2																																																																																				0.688	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	3						3	3	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119202979	119202979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119202979delA	ENST00000313400.4	-	22	3791	c.3691delT	c.(3691-3693)tcgfs	p.S1231fs	ASTN2_ENST00000288520.5_Frame_Shift_Del_p.S332fs|ASTN2_ENST00000361477.3_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000341734.4_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.S1227fs|ASTN2_ENST00000361209.2_Frame_Shift_Del_p.S1180fs			O75129	ASTN2_HUMAN	astrotactin 2	1231					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACAGCATCGAGGCTGAGACC	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3691-3693)cgfs		astrotactin 2							186.0	147.0	160.0					9																	119202979		2203	4300	6503	SO:0001589	frameshift_variant	23245					integral to membrane		g.chr9:119202979delA	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3691delT	9.37:g.119202979delA	ENSP00000314038:p.Ser1231fs					ASTN2_ENST00000361477.3_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000361209.2_Frame_Shift_Del_p.S1180fs|ASTN2_ENST00000341734.4_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000288520.5_Frame_Shift_Del_p.S332fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.S1227fs	p.S1231fs			O75129	ASTN2_HUMAN			22	3791	-			1231					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Frame_Shift_Del	DEL	ENST00000313400.4	37	c.3691delT																																																																																					0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	112						7	112	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(220-225)cca>cc		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546788_11546790delGGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.222_224delTCC	12.37:g.11546791_11546793delGGA	ENSP00000374013:p.Pro75del					PRB1_ENST00000546254.1_Intron	p.PP74del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	257_259	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.222_224delTCC	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	727						7	727	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14946760	14946760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:14946760delT	ENST00000261167.2	-	8	1051	c.818delA	c.(817-819)gacfs	p.D273fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	273	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGTGTCACTGTCATCAGTACT	0.448																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(817-819)gcfs		WW domain binding protein 11							308.0	260.0	276.0					12																	14946760		2203	4300	6503	SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946760delT	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.818delA	12.37:g.14946760delT	ENSP00000261167:p.Asp273fs					WBP11_ENST00000537574.1_Frame_Shift_Del_p.D273fs	p.D273fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			8	1051	-			273			Asp-rich.		Q96AY8	Frame_Shift_Del	DEL	ENST00000261167.2	37	c.818delA	CCDS8666.1																																																																																				0.448	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		11	326						11	326	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		11	519						11	519	---	---	---	---
PRR25	388199	broad.mit.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs367751056|rs199580467|rs371962006|rs200304320|rs138733834	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:863356_863372delGGACGCCGGACCGACAC	ENST00000301698.1	+	3	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)aggacgccggaccgacacfs	p.RTPDRH235fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714														1307	0.260982	0.6876	0.2622	5008	,	,		14975	0.0675		0.0755	False		,,,				2504	0.0736					ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(703-720)afs		proline rich 25																																				SO:0001589	frameshift_variant	388199							g.chr16:863356_863372delGGACGCCGGACCGACAC	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.704_720delGGACGCCGGACCGACAC	16.37:g.863356_863372delGGACGCCGGACCGACAC	ENSP00000301698:p.Arg235fs						p.RTPDRH235fs	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			3	704_720	+			235						Frame_Shift_Del	DEL	ENST00000301698.1	37	c.704_720delGGACGCCGGACCGACAC	CCDS45372.1																																																																																				0.714	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		6	7						6	7	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142795	21142795	+	RNA	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:21142795delT	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGGCATCTCTTCAGATTGGT	0.433																																						ENST00000591761.1																			0																				87.0	88.0	88.0					20																	21142795		1965	4153	6118			101929591							g.chr20:21142795delT																													20.37:g.21142795delT						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.433	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			10	134						10	134	---	---	---	---
MSANTD2P1	100130310	broad.mit.edu	37	21	24474481	24474482	+	lincRNA	INS	-	-	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:24474481_24474482insA	ENST00000421604.1	+	0	297																											gactccatctcaaaaaaaaaat	0.401																																						ENST00000421604.1																			0																																																			100130310							g.chr21:24474481_24474482insA																													21.37:g.24474491_24474491dupA														0	297	+									RNA	INS	ENST00000421604.1	37																																																																																						0.401	AP001255.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171055.1			2	4						2	4	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30408534	30408534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:30408534delT	ENST00000401950.2	+	13	1641	c.1299delT	c.(1297-1299)cctfs	p.P433fs	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.P297fs|MTMR3_ENST00000333027.3_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.P433fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	433	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGCTGGACCCTTATTACCGAA	0.552																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1297-1299)ccfs		myotubularin related protein 3							208.0	201.0	203.0					22																	30408534		2203	4300	6503	SO:0001589	frameshift_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408534delT	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1299delT	22.37:g.30408534delT	ENSP00000384651:p.Pro433fs					MTMR3_ENST00000323630.5_Frame_Shift_Del_p.P297fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.P433fs|CTA-85E5.10_ENST00000429350.1_RNA	p.P433fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1627	+			433			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Del	DEL	ENST00000401950.2	37	c.1299delT	CCDS13870.1																																																																																				0.552	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		20	421						20	421	---	---	---	---
