#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
FES	2242	broad.mit.edu	37	15	91436007	91436007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:91436007G>A	ENST00000328850.3	+	14	1920	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FES_ENST00000450438.2_Missense_Mutation_p.R465Q|FES_ENST00000444422.2_Missense_Mutation_p.R523Q|FES_ENST00000394300.3_Missense_Mutation_p.R535Q|FES_ENST00000414248.2_Missense_Mutation_p.R465Q|FES_ENST00000394302.1_Missense_Mutation_p.R465Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AAGTCTTGTCGAGAGACGCTC	0.577																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1777-1779)cGa>cAa		feline sarcoma oncogene							85.0	76.0	79.0					15																	91436007		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436007G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1778G>A	15.37:g.91436007G>A	ENSP00000331504:p.Arg593Gln					FES_ENST00000414248.2_Missense_Mutation_p.R465Q|FES_ENST00000450438.2_Missense_Mutation_p.R465Q|FES_ENST00000444422.2_Missense_Mutation_p.R523Q|FES_ENST00000394300.3_Missense_Mutation_p.R535Q|FES_ENST00000394302.1_Missense_Mutation_p.R465Q	p.R593Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		14	1920	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		593			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1778G>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193744	0.78902	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.106325	0.64402	D	0.000006	D	0.89153	0.6634	L	0.53671	1.685	0.58432	D	0.999999	D;P;D;D;P;D	0.89917	1.0;0.954;1.0;1.0;0.954;1.0	D;B;P;P;P;D	0.66847	0.947;0.408;0.869;0.879;0.494;0.926	D	0.89478	0.3748	10	0.72032	D	0.01	-15.2707	18.8273	0.92123	0.0:0.0:1.0:0.0	.	575;465;465;535;523;593	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	Q	593;465;465;523;535;465	ENSP00000331504:R593Q;ENSP00000414629:R465Q;ENSP00000377839:R465Q;ENSP00000400868:R523Q;ENSP00000377837:R535Q;ENSP00000409915:R465Q	ENSP00000331504:R593Q	R	+	2	0	FES	89237011	0.999000	0.42202	0.865000	0.33974	0.917000	0.54804	3.800000	0.55537	2.774000	0.95407	0.485000	0.47835	CGA		0.577	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		6	37	0	0	0	1	0	6	37				
PCDHA4	56144	broad.mit.edu	37	5	140188818	140188818	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140188818G>A	ENST00000530339.1	+	1	2046	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	PCDHA4_ENST00000356878.4_Silent_p.A682A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.A682A|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	682					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2044-2046)gcG>gcA									58.0	57.0	57.0					5																	140188818		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188818G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2046G>A	5.37:g.140188818G>A						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A682A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.A682A	p.A682A	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2046	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2046G>A	CCDS54916.1																																																																																				0.637	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		25	98	0	0	0	1	0	25	98				
GUCY2C	2984	broad.mit.edu	37	12	14822685	14822685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:14822685G>A	ENST00000261170.3	-	10	1389	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	418					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGAAGTTTAGAGTTCTTCCA	0.398																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1252-1254)tCt>tTt		guanylate cyclase 2C (heat stable enterotoxin receptor)							120.0	116.0	117.0					12																	14822685		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14822685G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1253C>T	12.37:g.14822685G>A	ENSP00000261170:p.Ser418Phe					RP11-174G6.1_ENST00000501178.2_RNA	p.S418F	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			10	1389	-			418					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1253C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	5.927	0.355013	0.11239	.	.	ENSG00000070019	ENST00000261170	T	0.74632	-0.86	5.4	1.74	0.24563	.	1.104600	0.06648	N	0.762203	T	0.53706	0.1813	N	0.14661	0.345	0.21604	N	0.999627	B	0.33318	0.408	B	0.23150	0.044	T	0.47573	-0.9107	10	0.59425	D	0.04	.	5.722	0.17992	0.0:0.0892:0.3489:0.5619	.	418	P25092	GUC2C_HUMAN	F	418	ENSP00000261170:S418F	ENSP00000261170:S418F	S	-	2	0	GUCY2C	14713952	0.374000	0.25081	0.908000	0.35775	0.383000	0.30230	0.449000	0.21744	0.427000	0.26145	-1.014000	0.02459	TCT		0.398	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			3	26	0	0	0	1	0	3	26				
OTOF	9381	broad.mit.edu	37	2	26717839	26717839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:26717839C>G	ENST00000272371.2	-	9	994	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	OTOF_ENST00000403946.3_Missense_Mutation_p.E290Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	290	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTGGACTCCTTCATGGAT	0.592																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(868-870)Gag>Cag		otoferlin							128.0	108.0	114.0					2																	26717839		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26717839C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.868G>C	2.37:g.26717839C>G	ENSP00000272371:p.Glu290Gln					OTOF_ENST00000403946.3_Missense_Mutation_p.E290Q	p.E290Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			9	994	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		290			C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.868G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630038	0.87660	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69685	-0.42;-0.42	5.83	5.83	0.93111	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	0.81763	0.4891	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.81022	-0.1121	10	0.49607	T	0.09	-42.8629	18.679	0.91540	0.0:1.0:0.0:0.0	.	290	Q9HC10	OTOF_HUMAN	Q	290	ENSP00000272371:E290Q;ENSP00000385255:E290Q	ENSP00000272371:E290Q	E	-	1	0	OTOF	26571343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.703000	0.84585	2.750000	0.94351	0.655000	0.94253	GAG		0.592	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	86	0	0	0	1	0	11	86				
USP38	84640	broad.mit.edu	37	4	144106718	144106718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:144106718G>A	ENST00000307017.4	+	1	621	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RP11-284M14.1_ENST00000507826.1_RNA|RP11-284M14.1_ENST00000507486.1_RNA|USP38_ENST00000510377.1_Missense_Mutation_p.E39K	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	39					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCGCAGTGCGAGGCCATGTT	0.652																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(115-117)Gag>Aag		ubiquitin specific peptidase 38							76.0	65.0	69.0					4																	144106718		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144106718G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.115G>A	4.37:g.144106718G>A	ENSP00000303434:p.Glu39Lys					USP38_ENST00000510377.1_Missense_Mutation_p.E39K	p.E39K	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			1	621	+	all_hematologic(180;0.158)		39					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.115G>A	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770794	0.15983	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.68624	-0.33;-0.34	5.3	3.55	0.40652	.	0.405610	0.25247	N	0.032057	T	0.36908	0.0984	N	0.04508	-0.205	0.32208	N	0.576884	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.38415	-0.9662	10	0.02654	T	1	-8.2409	10.1217	0.42625	0.0771:0.5015:0.4214:0.0	.	39;39	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	K	39	ENSP00000427647:E39K;ENSP00000303434:E39K	ENSP00000303434:E39K	E	+	1	0	USP38	144326168	0.941000	0.31946	1.000000	0.80357	0.987000	0.75469	0.067000	0.14510	0.779000	0.33543	0.561000	0.74099	GAG		0.652	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		11	67	0	0	0	1	0	11	67				
DCHS2	54798	broad.mit.edu	37	4	155241740	155241740	+	Missense_Mutation	SNP	A	A	G	rs201892633		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:155241740A>G	ENST00000357232.4	-	14	3445	c.3446T>C	c.(3445-3447)cTg>cCg	p.L1149P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1149	Cadherin 9. {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)		TTGTGCTGTCAGTGATCTCAG	0.468																																						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.(3445-3447)cTg>cCg		dachsous cadherin-related 2		A	PRO/LEU	0,4406		0,0,2203	193.0	188.0	190.0		3446	5.6	0.2	4		190	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DCHS2	NM_017639.3	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	1149/2917	155241740	1,13005	2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241740A>G	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.3446T>C	4.37:g.155241740A>G	ENSP00000349768:p.Leu1149Pro						p.L1149P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3445	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1149			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3446T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673179	0.67928	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.62105	0.05	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.260569	0.27202	N	0.020456	T	0.79986	0.4541	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82657	-0.0349	10	0.66056	D	0.02	.	15.7718	0.78176	1.0:0.0:0.0:0.0	.	1149	Q6V1P9	PCD23_HUMAN	P	1149	ENSP00000349768:L1149P	ENSP00000349768:L1149P	L	-	2	0	DCHS2	155461190	1.000000	0.71417	0.169000	0.22859	0.906000	0.53458	5.915000	0.69973	2.130000	0.65690	0.460000	0.39030	CTG		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	91	0	0	0	1	0	4	91				
KIF20B	9585	broad.mit.edu	37	10	91470852	91470852	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:91470852G>C	ENST00000371728.3	+	6	690	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.E209Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.E209Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.E209Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	209	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAGAACAAGAGAAAGAAGA	0.299																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(625-627)Gag>Cag		kinesin family member 20B							67.0	73.0	71.0					10																	91470852		2203	4299	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91470852G>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.625G>C	10.37:g.91470852G>C	ENSP00000360793:p.Glu209Gln					KIF20B_ENST00000260753.4_Missense_Mutation_p.E209Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.E209Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.E209Q	p.E209Q			Q96Q89	KI20B_HUMAN			6	697	+			209			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.625G>C		.	.	.	.	.	.	.	.	.	.	G	16.12	3.032455	0.54790	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.39	5.39	0.77823	Kinesin, motor domain (4);	0.132703	0.34268	N	0.004111	T	0.26810	0.0656	N	0.04508	-0.205	0.32853	D	0.506894	B;B	0.26483	0.15;0.039	B;B	0.37692	0.256;0.14	T	0.37686	-0.9695	10	0.17369	T	0.5	-15.2753	13.4551	0.61193	0.0753:0.0:0.9247:0.0	.	209;209	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	209	ENSP00000260753:E209Q;ENSP00000411545:E209Q;ENSP00000377830:E209Q;ENSP00000360793:E209Q	ENSP00000260753:E209Q	E	+	1	0	KIF20B	91460832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.530000	0.60595	2.522000	0.85027	0.655000	0.94253	GAG		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		3	17	0	0	0	1	0	3	17				
MAP3K9	4293	broad.mit.edu	37	14	71197410	71197410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:71197410C>T	ENST00000554752.2	-	12	3001	c.3002G>A	c.(3001-3003)cGg>cAg	p.R1001Q	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R734Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1015Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R729Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R978Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1001					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGCCGTTGCCGGTTGGCAGA	0.637																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(3001-3003)cGg>cAg		mitogen-activated protein kinase kinase kinase 9							49.0	51.0	51.0					14																	71197410		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197410C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3002G>A	14.37:g.71197410C>T	ENSP00000451612:p.Arg1001Gln					MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1015Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R734Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R729Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R978Q	p.R1001Q			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3001	-			1001					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.3002G>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.631427	0.87660	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;D;T;T	0.81821	-1.3;-1.54;-1.31;-1.32	4.84	4.84	0.62591	.	0.321935	0.32015	N	0.006703	D	0.88529	0.6461	M	0.61703	1.905	0.46774	D	0.999199	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.97110	0.964;0.902;0.999;1.0	D	0.89532	0.3786	10	0.72032	D	0.01	.	18.1285	0.89593	0.0:1.0:0.0:0.0	.	729;1001;1015;734	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	1001;1015;734;978;729;717	ENSP00000451612:R1001Q;ENSP00000451038:R734Q;ENSP00000370649:R978Q;ENSP00000451921:R729Q	ENSP00000005198:R1015Q	R	-	2	0	MAP3K9	70267163	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.996000	0.76263	2.524000	0.85096	0.655000	0.94253	CGG		0.637	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	89	0	0	0	1	0	5	89				
PNPT1	87178	broad.mit.edu	37	2	55900074	55900074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:55900074G>A	ENST00000447944.2	-	9	906	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	274					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATAACTTCTGAGGTGTCCTC	0.363																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(820-822)Cag>Tag		polyribonucleotide nucleotidyltransferase 1							156.0	159.0	158.0					2																	55900074		2203	4300	6503	SO:0001587	stop_gained	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55900074G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.820C>T	2.37:g.55900074G>A	ENSP00000400646:p.Gln274*						p.Q274*	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	906	-			274					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Nonsense_Mutation	SNP	ENST00000447944.2	37	c.820C>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	37	6.023833	0.97211	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.77	5.77	0.91146	.	0.225374	0.40385	N	0.001108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.0162	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000386075:Q274X	Q	-	1	0	PNPT1	55753578	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.089000	0.57685	2.885000	0.99019	0.655000	0.94253	CAG		0.363	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		9	37	0	0	0	1	0	9	37				
NIPAL1	152519	broad.mit.edu	37	4	48037921	48037921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:48037921C>T	ENST00000295461.5	+	6	1031	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	322						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GTGACTTGCTCTGCCATCTTA	0.413																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(964-966)tCt>tTt		NIPA-like domain containing 1							169.0	154.0	159.0					4																	48037921		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48037921C>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.965C>T	4.37:g.48037921C>T	ENSP00000295461:p.Ser322Phe						p.S322F	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	1031	+			322					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.965C>T	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658144	0.67586	.	.	ENSG00000163293	ENST00000295461	D	0.92752	-3.1	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98245	1.0490	9	.	.	.	-9.2314	20.422	0.99049	0.0:1.0:0.0:0.0	.	322	Q6NVV3	NIPA3_HUMAN	F	322	ENSP00000295461:S322F	.	S	+	2	0	NIPAL1	47732678	1.000000	0.71417	0.964000	0.40570	0.093000	0.18481	7.647000	0.83462	2.832000	0.97577	0.655000	0.94253	TCT		0.413	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		7	34	0	0	0	1	0	7	34				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	22	0	0	0	1	0	4	22				
CAPN13	92291	broad.mit.edu	37	2	30977169	30977169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:30977169C>G	ENST00000295055.8	-	9	1104	c.928G>C	c.(928-930)Gat>Cat	p.D310H	CAPN13_ENST00000534090.2_Missense_Mutation_p.D310H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	310	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCGCCATCTTCCCGTTTC	0.443																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(928-930)Gat>Cat		calpain 13							81.0	79.0	80.0					2																	30977169		1912	4124	6036	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30977169C>G		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.928G>C	2.37:g.30977169C>G	ENSP00000295055:p.Asp310His					CAPN13_ENST00000534090.2_Missense_Mutation_p.D310H	p.D310H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			9	1104	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		310			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.928G>C	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424624	0.25639	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.90732	-2.72;-2.72	5.11	2.28	0.28536	Peptidase C2, calpain, catalytic domain (3);	0.130283	0.64402	D	0.000001	D	0.96153	0.8746	H	0.98111	4.15	0.44719	D	0.997713	D	0.89917	1.0	D	0.80764	0.994	D	0.93135	0.6536	10	0.87932	D	0	.	4.978	0.14151	0.1666:0.6544:0.0:0.179	.	310	Q6MZZ7	CAN13_HUMAN	H	310	ENSP00000295055:D310H;ENSP00000431298:D310H	ENSP00000295055:D310H	D	-	1	0	CAPN13	30830673	0.193000	0.23313	0.223000	0.23860	0.101000	0.19017	0.302000	0.19192	0.255000	0.21593	0.555000	0.69702	GAT		0.443	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		3	5	0	0	0	1	0	3	5				
RFX7	64864	broad.mit.edu	37	15	56436623	56436623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:56436623G>C	ENST00000423270.1	-	3	253	c.254C>G	c.(253-255)tCt>tGt	p.S85C	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.S85C|RFX7_ENST00000559447.2_5'UTR	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAGACCAGAAGGCAGCTG	0.348																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(253-255)tCt>tGt		regulatory factor X, 7							105.0	105.0	105.0					15																	56436623		1834	4076	5910	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56436623G>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.254C>G	15.37:g.56436623G>C	ENSP00000397644:p.Ser85Cys					RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.S85C	p.S85C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			3	253	-			726					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000423270.1	37	c.254C>G		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475081	0.84640	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.57436	0.4;0.41	5.41	5.41	0.78517	.	.	.	.	.	T	0.67627	0.2913	M	0.66939	2.045	0.58432	D	0.999999	.	.	.	.	.	.	T	0.70757	-0.4785	7	0.87932	D	0	.	16.6865	0.85310	0.0:0.0:1.0:0.0	.	.	.	.	C	85	ENSP00000313299:S85C;ENSP00000397644:S85C	ENSP00000313299:S85C	S	-	2	0	RFX7	54223915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.913000	0.92730	2.524000	0.85096	0.563000	0.77884	TCT		0.348	RFX7-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022841		5	20	0	0	0	1	0	5	20				
SPEN	23013	broad.mit.edu	37	1	16254889	16254889	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:16254889G>A	ENST00000375759.3	+	11	2358	c.2154G>A	c.(2152-2154)gaG>gaA	p.E718E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	718	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGACCATGAGAGGAGGCCGA	0.488																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2152-2154)gaG>gaA		spen family transcriptional repressor							98.0	98.0	98.0					1																	16254889		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16254889G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2154G>A	1.37:g.16254889G>A							p.E718E	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2358	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	718			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.2154G>A	CCDS164.1																																																																																				0.488	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	46	0	0	0	1	0	11	46				
PAIP1	10605	broad.mit.edu	37	5	43529915	43529915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:43529915C>T	ENST00000306846.3	-	10	1551	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E|PAIP1_ENST00000514514.1_Intron	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	440	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAATCTGTTCCATTTTCTTC	0.348																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1318-1320)gGa>gAa		poly(A) binding protein interacting protein 1							85.0	92.0	90.0					5																	43529915		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43529915C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1319G>A	5.37:g.43529915C>T	ENSP00000302768:p.Gly440Glu					PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E	p.G440E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			10	1551	-	Lung NSC(6;2.07e-05)		440			PABPC1-interacting motif-1 (PAM1).		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1319G>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767237	0.90020	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514816;ENST00000338972	T;T;T	0.37235	1.21;1.29;1.35	4.93	4.93	0.64822	.	0.231050	0.38217	N	0.001766	T	0.57359	0.2048	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51803	-0.8659	10	0.36615	T	0.2	-18.0168	18.6833	0.91554	0.0:1.0:0.0:0.0	.	440;361	Q9H074;Q9H074-2	PAIP1_HUMAN;.	E	440;361;41;328	ENSP00000302768:G440E;ENSP00000387729:G361E;ENSP00000339622:G328E	ENSP00000302768:G440E	G	-	2	0	PAIP1	43565672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.636000	0.74299	2.727000	0.93392	0.484000	0.47621	GGA		0.348	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		3	32	0	0	0	1	0	3	32				
ADAMTS9	56999	broad.mit.edu	37	3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(835-837)aaG>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 9							245.0	237.0	240.0					3																	64644310		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64644310C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.837G>C	3.37:g.64644310C>G	ENSP00000418735:p.Lys279Asn					ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	4	1179	-		Lung NSC(201;0.00682)	279					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.837G>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	2.937	-0.219673	0.06061	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.63255	0.16;0.17;-0.03	6.01	1.65	0.23941	.	0.440621	0.25430	N	0.030734	T	0.39436	0.1078	N	0.24115	0.695	0.09310	N	0.99999	B;B;B;B	0.23249	0.001;0.002;0.082;0.001	B;B;B;B	0.23716	0.001;0.005;0.048;0.001	T	0.11991	-1.0565	10	0.29301	T	0.29	.	2.6824	0.05098	0.1275:0.4915:0.1248:0.2562	.	279;279;279;279	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	N	279	ENSP00000295903:K279N;ENSP00000418735:K279N;ENSP00000419217:K279N	ENSP00000295903:K279N	K	-	3	2	ADAMTS9	64619350	0.948000	0.32251	0.213000	0.23690	0.104000	0.19210	0.081000	0.14823	0.413000	0.25759	-0.175000	0.13238	AAG		0.438	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			20	109	0	0	0	1	0	20	109				
SERPINB9	5272	broad.mit.edu	37	6	2895698	2895698	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:2895698C>A	ENST00000380698.4	-	4	440	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	117					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGGAAAGCTCCTTCAGCTCAG	0.423																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(349-351)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 9							130.0	122.0	124.0					6																	2895698		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2895698C>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.351G>T	6.37:g.2895698C>A	ENSP00000370074:p.Lys117Asn						p.K117N	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			4	440	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	117					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.351G>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637185	0.29157	.	.	ENSG00000170542	ENST00000380698	D	0.85013	-1.93	4.44	-0.397	0.12423	Serpin domain (3);	0.097920	0.64402	D	0.000002	T	0.56499	0.1989	N	0.16478	0.41	0.21499	N	0.999664	B	0.29115	0.233	B	0.33121	0.158	T	0.55958	-0.8058	10	0.72032	D	0.01	.	8.1562	0.31171	0.0:0.3426:0.0:0.6574	.	117	P50453	SPB9_HUMAN	N	117	ENSP00000370074:K117N	ENSP00000370074:K117N	K	-	3	2	SERPINB9	2840697	0.001000	0.12720	0.432000	0.26747	0.237000	0.25408	0.128000	0.15810	-0.004000	0.14419	0.655000	0.94253	AAG		0.423	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			9	28	1	0	2.17888e-05	1	2.26919e-05	9	28				
AFAP1L2	84632	broad.mit.edu	37	10	116067594	116067594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067594C>A	ENST00000304129.4	-	10	1071	c.1042G>T	c.(1042-1044)Gag>Tag	p.E348*	AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E401*|AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.E348*			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	348					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCCACAGGCTCCAGTGAGGTG	0.512																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1042-1044)Gag>Tag		actin filament associated protein 1-like 2							106.0	103.0	104.0					10																	116067594		2203	4300	6503	SO:0001587	stop_gained	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116067594C>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1042G>T	10.37:g.116067594C>A	ENSP00000303042:p.Glu348*					AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E401*|AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.E348*	p.E348*	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	10	1342	-		Colorectal(252;0.175)|Breast(234;0.231)	348					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	ENST00000304129.4	37	c.1042G>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	37	6.204878	0.97376	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	.	.	.	5.3	5.3	0.74995	.	0.111831	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.8983	18.9736	0.92725	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;375;401	.	ENSP00000303042:E348X	E	-	1	0	AFAP1L2	116057584	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.877000	0.75562	2.478000	0.83669	0.563000	0.77884	GAG		0.512	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		4	35	1	0	0.00909568	1	0.00932771	4	35				
SFSWAP	6433	broad.mit.edu	37	12	132283601	132283601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:132283601G>A	ENST00000261674.4	+	17	2878	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.E965K|RNA5SP378_ENST00000363646.1_RNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	913	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCAGGAAAAAGAAGCCCAGAT	0.557																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2737-2739)Gaa>Aaa		splicing factor, suppressor of white-apricot homolog (Drosophila)							96.0	96.0	96.0					12																	132283601		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132283601G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2737G>A	12.37:g.132283601G>A	ENSP00000261674:p.Glu913Lys					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.E965K	p.E913K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			17	2878	+			913			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2737G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040470	0.55003	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.21361	2.01;2.67	5.44	5.44	0.79542	.	0.356716	0.34555	N	0.003868	T	0.15219	0.0367	N	0.14661	0.345	0.36036	D	0.839785	B;B	0.26635	0.13;0.155	B;B	0.24701	0.055;0.034	T	0.13522	-1.0506	10	0.54805	T	0.06	-20.4447	16.178	0.81874	0.0:0.0:1.0:0.0	.	965;913	F5H6B8;Q12872	.;SFSWA_HUMAN	K	913;965	ENSP00000261674:E913K;ENSP00000437738:E965K	ENSP00000261674:E913K	E	+	1	0	SFSWAP	130849554	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	5.862000	0.69560	2.552000	0.86080	0.555000	0.69702	GAA		0.557	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		6	36	0	0	0	1	0	6	36				
FBXL7	23194	broad.mit.edu	37	5	15936847	15936847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:15936847G>A	ENST00000504595.1	+	4	1509	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	FBXL7_ENST00000329673.7_Missense_Mutation_p.R331Q|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R296Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TTCGGCCTGCGGGAGATCGCC	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1027-1029)cGg>cAg		F-box and leucine-rich repeat protein 7							21.0	24.0	23.0					5																	15936847		2169	4264	6433	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936847G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1028G>A	5.37:g.15936847G>A	ENSP00000423630:p.Arg343Gln					FBXL7_ENST00000329673.7_Missense_Mutation_p.R331Q|FBXL7_ENST00000510662.1_Missense_Mutation_p.R296Q	p.R343Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1509	+			343					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1028G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546251	0.65198	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02682	4.2;4.2;4.2	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	L	0.39397	1.21	0.80722	D	1	P	0.45240	0.854	B	0.35655	0.207	T	0.61936	-0.6960	10	0.22109	T	0.4	.	19.109	0.93309	0.0:0.0:1.0:0.0	.	343	Q9UJT9	FBXL7_HUMAN	Q	343;296;331	ENSP00000423630:R343Q;ENSP00000425184:R296Q;ENSP00000329632:R331Q	ENSP00000329632:R331Q	R	+	2	0	FBXL7	15989847	1.000000	0.71417	0.996000	0.52242	0.318000	0.28184	9.582000	0.98214	2.525000	0.85131	0.655000	0.94253	CGG		0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		3	20	0	0	0	1	0	3	20				
SH3TC2	79628	broad.mit.edu	37	5	148418028	148418028	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:148418028C>T	ENST00000515425.1	-	8	932	c.831G>A	c.(829-831)acG>acA	p.T277T	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Silent_p.T162T|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Silent_p.T270T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	277	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATAACCCGTCAAGGCCT	0.478																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(829-831)acG>acA		SH3 domain and tetratricopeptide repeats 2							152.0	155.0	154.0					5																	148418028		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148418028C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.831G>A	5.37:g.148418028C>T						SH3TC2_ENST00000512049.1_Silent_p.T270T|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Silent_p.T162T	p.T277T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	932	-			277			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.831G>A	CCDS4293.1																																																																																				0.478	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		8	80	0	0	0	1	0	8	80				
VPS4A	27183	broad.mit.edu	37	16	69354105	69354105	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69354105G>A	ENST00000254950.11	+	7	838	c.682G>A	c.(682-684)Gag>Aag	p.E228K	COG8_ENST00000564419.1_5'UTR|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.E252K	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CTTCATCGATGAGGTGGATTC	0.567																																						ENST00000254950.11																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7						c.(682-684)Gag>Aag		vacuolar protein sorting 4 homolog A (S. cerevisiae)							56.0	62.0	60.0					16																	69354105		1949	4150	6099	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69354105G>A	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.682G>A	16.37:g.69354105G>A	ENSP00000254950:p.Glu228Lys					COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E252K|VPS4A_ENST00000569775.1_Intron	p.E228K	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN			7	838	+		Ovarian(137;0.101)	228						Missense_Mutation	SNP	ENST00000254950.11	37	c.682G>A	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936505	0.97122	.	.	ENSG00000132612	ENST00000254950	D	0.98550	-4.99	6.07	6.07	0.98685	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97644	1.0150	10	0.87932	D	0	-39.0655	20.239	0.98366	0.0:0.0:1.0:0.0	.	228	Q9UN37	VPS4A_HUMAN	K	228	ENSP00000254950:E228K	ENSP00000254950:E228K	E	+	1	0	VPS4A	67911606	1.000000	0.71417	0.986000	0.45419	0.837000	0.47467	9.864000	0.99589	2.884000	0.98904	0.655000	0.94253	GAG		0.567	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		5	41	0	0	0	1	0	5	41				
KNTC1	9735	broad.mit.edu	37	12	123097728	123097728	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:123097728G>A	ENST00000333479.7	+	54	5869	c.5692G>A	c.(5692-5694)Gac>Aac	p.D1898N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D823N|KNTC1_ENST00000537348.1_Missense_Mutation_p.D323N|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1898					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTATTTGGCTGACAAGGAAAC	0.333																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5692-5694)Gac>Aac		kinetochore associated 1							156.0	150.0	152.0					12																	123097728		1822	4078	5900	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123097728G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5692G>A	12.37:g.123097728G>A	ENSP00000328236:p.Asp1898Asn					KNTC1_ENST00000450485.2_Missense_Mutation_p.D823N|KNTC1_ENST00000537348.1_Missense_Mutation_p.D323N|KNTC1_ENST00000436959.3_5'UTR	p.D1898N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	54	5869	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1898					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5692G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037595	0.93630	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.46	5.46	0.80206	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.082993	0.85682	D	0.000000	T	0.54727	0.1876	M	0.67953	2.075	0.58432	D	0.999997	D;D	0.67145	0.991;0.996	D;P	0.66716	0.946;0.886	T	0.49485	-0.8935	10	0.42905	T	0.14	-15.0529	19.6733	0.95918	0.0:0.0:1.0:0.0	.	823;1898	E7ES84;P50748	.;KNTC1_HUMAN	N	823;1898;323;85	ENSP00000397992:D823N;ENSP00000328236:D1898N;ENSP00000443622:D323N;ENSP00000439119:D85N	ENSP00000328236:D1898N	D	+	1	0	KNTC1	121663681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.947000	0.63583	2.728000	0.93425	0.655000	0.94253	GAC		0.333	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			6	38	0	0	0	1	0	6	38				
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(457-459)tCg>tTg		olfactory receptor, family 10, subfamily H, member 2							91.0	75.0	81.0					19																	15839311		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839311C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu						p.S153L	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	478	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		153					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.458C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	88	0	0	0	1	0	4	88				
CNR1	1268	broad.mit.edu	37	6	88854078	88854078	+	Missense_Mutation	SNP	C	C	T	rs568621412	byFrequency	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:88854078C>T	ENST00000537554.1	-	2	4478	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.V306I|CNR1_ENST00000369499.2_Missense_Mutation_p.V306I|CNR1_ENST00000369501.2_Missense_Mutation_p.V306I|CNR1_ENST00000428600.2_Missense_Mutation_p.V306I|CNR1_ENST00000468898.1_Missense_Mutation_p.V273I|CNR1_ENST00000549716.1_Missense_Mutation_p.V245I|CNR1_ENST00000549890.1_Missense_Mutation_p.V306I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	306					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATCATGCGGACGGCGTGGCTG	0.547													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		22236	0.0		0.0	False		,,,				2504	0.0					ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(916-918)Gtc>Atc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						100.0	91.0	94.0					6																	88854078		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854078C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.916G>A	6.37:g.88854078C>T	ENSP00000441046:p.Val306Ile					CNR1_ENST00000549890.1_Missense_Mutation_p.V306I|CNR1_ENST00000369499.2_Missense_Mutation_p.V306I|CNR1_ENST00000468898.1_Missense_Mutation_p.V273I|CNR1_ENST00000549716.1_Missense_Mutation_p.V245I|CNR1_ENST00000428600.2_Missense_Mutation_p.V306I|CNR1_ENST00000369501.2_Missense_Mutation_p.V306I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.V306I	p.V306I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4478	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	306					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.916G>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487017	0.63962	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.50333	1.59	0.80722	D	1	D;P	0.76494	0.999;0.954	D;P	0.76071	0.987;0.716	T	0.10965	-1.0607	10	0.33141	T	0.24	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	273;306	P21554-3;P21554	.;CNR1_HUMAN	I	306;306;306;306;306;273;306;245	ENSP00000358513:V306I;ENSP00000442689:V306I;ENSP00000441046:V306I;ENSP00000358511:V306I;ENSP00000446819:V306I;ENSP00000420188:V273I;ENSP00000412192:V306I;ENSP00000449549:V245I	ENSP00000358511:V306I	V	-	1	0	CNR1	88910797	1.000000	0.71417	0.963000	0.40424	0.630000	0.37929	6.089000	0.71384	2.880000	0.98712	0.655000	0.94253	GTC		0.547	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			13	81	0	0	0	1	0	13	81				
ADAM2	2515	broad.mit.edu	37	8	39645740	39645740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39645740G>C	ENST00000265708.4	-	9	776	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	ADAM2_ENST00000347580.4_Missense_Mutation_p.L206V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.L225V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATGAAGACAGAATAATTGTA	0.259																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(673-675)Ctg>Gtg		ADAM metallopeptidase domain 2							56.0	60.0	59.0					8																	39645740		2201	4286	6487	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645740G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.673C>G	8.37:g.39645740G>C	ENSP00000265708:p.Leu225Val					ADAM2_ENST00000521880.1_Missense_Mutation_p.L225V|ADAM2_ENST00000347580.4_Missense_Mutation_p.L206V|ADAM2_ENST00000379853.2_Intron	p.L225V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	776	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	225			Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.673C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334197	0.24253	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.77358	-1.09;-1.09;-1.09	4.71	1.85	0.25348	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.87087	0.6090	M	0.89715	3.055	0.21984	N	0.99944	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.994;0.971	T	0.74494	-0.3647	8	.	.	.	.	3.6981	0.08372	0.2064:0.0:0.597:0.1965	.	225;206;225	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	V	206;225;225	ENSP00000343854:L206V;ENSP00000265708:L225V;ENSP00000429352:L225V	.	L	-	1	2	ADAM2	39764897	0.998000	0.40836	0.412000	0.26496	0.019000	0.09904	2.887000	0.48586	0.513000	0.28278	0.460000	0.39030	CTG		0.259	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		3	22	0	0	0	1	0	3	22				
FAM196A	642938	broad.mit.edu	37	10	128974117	128974117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:128974117C>T	ENST00000522781.1	-	4	1098	c.543G>A	c.(541-543)atG>atA	p.M181I	FAM196A_ENST00000424811.2_Missense_Mutation_p.M181I|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	181										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCACTGTGTTCATGTGTTGGT	0.597																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(541-543)atG>atA		family with sequence similarity 196, member A							73.0	75.0	74.0					10																	128974117		2203	4300	6503	SO:0001583	missense	642938							g.chr10:128974117C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.543G>A	10.37:g.128974117C>T	ENSP00000429763:p.Met181Ile					FAM196A_ENST00000424811.2_Missense_Mutation_p.M181I|DOCK1_ENST00000280333.6_Intron	p.M181I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1098	-			181					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.543G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.793663	0.00623	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.40476	1.03;1.03	4.17	3.27	0.37495	.	0.396845	0.29529	N	0.011882	T	0.26268	0.0641	L	0.29908	0.895	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.18561	0.022;0.022	T	0.13282	-1.0515	10	0.17832	T	0.49	.	7.6734	0.28471	0.0:0.7011:0.1392:0.1597	.	181;181	B7ZME7;Q6ZSG2	.;F196A_HUMAN	I	181	ENSP00000429763:M181I;ENSP00000428730:M181I	ENSP00000428730:M181I	M	-	3	0	FAM196A	128864107	0.000000	0.05858	0.023000	0.16930	0.058000	0.15608	0.080000	0.14802	1.350000	0.45770	0.563000	0.77884	ATG		0.597	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		12	95	0	0	0	1	0	12	95				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	18	0	0	0	1	0	4	18				
MON2	23041	broad.mit.edu	37	12	62943490	62943490	+	Silent	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:62943490T>C	ENST00000393632.2	+	23	3187	c.2796T>C	c.(2794-2796)gtT>gtC	p.V932V	MON2_ENST00000552738.1_Silent_p.V909V|MON2_ENST00000552115.1_Silent_p.V932V|MON2_ENST00000393630.3_Silent_p.V933V|MON2_ENST00000546600.1_Silent_p.V932V|MON2_ENST00000393629.2_Silent_p.V932V|MON2_ENST00000280379.6_Silent_p.V933V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	932					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCAGTTGGTTGTGACAGATT	0.343																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(2797-2799)gtT>gtC		MON2 homolog (S. cerevisiae)							179.0	154.0	163.0					12																	62943490		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62943490T>C		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2796T>C	12.37:g.62943490T>C						MON2_ENST00000393632.2_Silent_p.V932V|MON2_ENST00000546600.1_Silent_p.V932V|MON2_ENST00000552738.1_Silent_p.V909V|MON2_ENST00000552115.1_Silent_p.V932V|MON2_ENST00000393629.2_Silent_p.V932V|MON2_ENST00000280379.6_Silent_p.V933V	p.V933V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	24	3190	+			933					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.2799T>C	CCDS31849.1																																																																																				0.343	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		11	36	0	0	0	1	0	11	36				
IGDCC4	57722	broad.mit.edu	37	15	65703569	65703569	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:65703569C>T	ENST00000352385.2	-	2	419	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	70	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGCTCCAGGTCACCCTGGTGG	0.642																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(208-210)gtG>gtA		immunoglobulin superfamily, DCC subclass, member 4							62.0	51.0	54.0					15																	65703569		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65703569C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.210G>A	15.37:g.65703569C>T							p.V70V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			2	419	-			70			Ig-like C2-type 1.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.210G>A	CCDS10206.1																																																																																				0.642	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		4	40	0	0	0	1	0	4	40				
LINS	55180	broad.mit.edu	37	15	101112104	101112104	+	Silent	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:101112104C>G	ENST00000314742.8	-	6	1611	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	463										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CTAACCTGGTCAGTGTTAAGT	0.433																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(1387-1389)ctG>ctC		lines homolog (Drosophila)							97.0	93.0	94.0					15																	101112104		2203	4300	6503	SO:0001819	synonymous_variant	55180							g.chr15:101112104C>G	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1389G>C	15.37:g.101112104C>G							p.L463L	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			6	1611	-			463					Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	c.1389G>C	CCDS10385.1																																																																																				0.433	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		5	35	0	0	0	1	0	5	35				
PTGER4	5734	broad.mit.edu	37	5	40692464	40692464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:40692464C>T	ENST00000302472.3	+	3	2475	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	484					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CTGAACTTATCAGAAAAATGT	0.463																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1450-1452)tCa>tTa		prostaglandin E receptor 4 (subtype EP4)							44.0	50.0	48.0					5																	40692464		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40692464C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1451C>T	5.37:g.40692464C>T	ENSP00000302846:p.Ser484Leu						p.S484L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			3	2475	+			484					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.1451C>T	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150539	0.57151	.	.	ENSG00000171522	ENST00000302472	T	0.55234	0.53	5.81	5.81	0.92471	.	0.000000	0.46145	D	0.000302	T	0.54532	0.1864	L	0.57536	1.79	0.42118	D	0.991413	B	0.27853	0.191	B	0.26770	0.073	T	0.54964	-0.8214	10	0.72032	D	0.01	-6.2924	20.0826	0.97783	0.0:1.0:0.0:0.0	.	484	P35408	PE2R4_HUMAN	L	484	ENSP00000302846:S484L	ENSP00000302846:S484L	S	+	2	0	PTGER4	40728221	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	5.236000	0.65354	2.746000	0.94184	0.655000	0.94253	TCA		0.463	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		7	55	0	0	0	1	0	7	55				
PTPRM	5797	broad.mit.edu	37	18	8069693	8069693	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:8069693G>A	ENST00000332175.8	+	8	2179	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.R319Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R168Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R381Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R381Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	381					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATCCCATGCGAGGCCCAAGA	0.413																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1141-1143)cGa>cAa		protein tyrosine phosphatase, receptor type, M							47.0	47.0	47.0					18																	8069693		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069693G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1142G>A	18.37:g.8069693G>A	ENSP00000331418:p.Arg381Gln					PTPRM_ENST00000400060.4_Missense_Mutation_p.R381Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R381Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.R168Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R319Q	p.R381Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			8	2179	+		Colorectal(10;0.234)	381			Fibronectin type-III 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1142G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076111	0.55646	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.36	5.36	0.76844	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.059530	0.64402	D	0.000001	T	0.35098	0.0920	L	0.52011	1.625	0.41946	D	0.990634	B;P;P	0.37573	0.043;0.6;0.6	B;B;B	0.18263	0.004;0.021;0.021	T	0.24154	-1.0168	10	0.30078	T	0.28	.	12.4437	0.55639	0.0768:0.0:0.9232:0.0	.	168;381;381	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	381;381;319;168	ENSP00000331418:R381Q;ENSP00000382933:R381Q;ENSP00000382927:R319Q;ENSP00000387608:R168Q	ENSP00000331418:R381Q	R	+	2	0	PTPRM	8059693	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.815000	0.69215	2.529000	0.85273	0.655000	0.94253	CGA		0.413	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	23	0	0	0	1	0	5	23				
AP2A1	160	broad.mit.edu	37	19	50306633	50306633	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:50306633C>A	ENST00000359032.5	+	19	2410	c.2410C>A	c.(2410-2412)Cag>Aag	p.Q804K	AP2A1_ENST00000354293.5_Splice_Site_p.Q782K	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	804				Q -> H (in Ref. 1; AAL11039/AAL11040). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCAGACTCATATCCTCTC	0.597																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.e18+1		adaptor-related protein complex 2, alpha 1 subunit							66.0	72.0	70.0					19																	50306633		1991	4151	6142	SO:0001630	splice_region_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50306633C>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2410+1C>A	19.37:g.50306633C>A						AP2A1_ENST00000359032.5_Splice_Site_p.Q804_splice	p.Q782_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	18	2510	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	804					Q96CI7|Q96PP6|Q96PP7|Q9H070	Splice_Site	SNP	ENST00000359032.5	37	c.2344_splice	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171398	0.38315	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.49139	0.79;0.79	5.73	4.67	0.58626	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	.	.	.	.	T	0.32466	0.0830	N	0.12887	0.27	0.26085	N	0.981033	B;B	0.15719	0.014;0.001	B;B	0.20577	0.03;0.003	T	0.16482	-1.0401	9	0.25751	T	0.34	.	14.7896	0.69830	0.1457:0.8543:0.0:0.0	.	782;804	O95782-2;O95782	.;AP2A1_HUMAN	K	782;804	ENSP00000346246:Q782K;ENSP00000351926:Q804K	ENSP00000346246:Q782K	Q	+	1	0	AP2A1	54998445	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	1.619000	0.36965	1.382000	0.46385	0.655000	0.94253	CAG		0.597	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		Missense_Mutation	7	35	1	0	0.00198382	1	0.00204486	7	35				
HECTD4	283450	broad.mit.edu	37	12	112650351	112650351	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:112650351G>C	ENST00000430131.2	-	48	7448	c.6303C>G	c.(6301-6303)ctC>ctG	p.L2101L	HECTD4_ENST00000550722.1_Silent_p.L2377L|HECTD4_ENST00000377560.5_Silent_p.L2351L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2101					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GATATGGTGAGAGGCGCTGCC	0.547																																						ENST00000550722.1																			0											c.(7129-7131)ctC>ctG		HECT domain containing E3 ubiquitin protein ligase 4							118.0	116.0	117.0					12																	112650351		1982	4171	6153	SO:0001819	synonymous_variant	283450							g.chr12:112650351G>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6303C>G	12.37:g.112650351G>C						HECTD4_ENST00000430131.2_Silent_p.L2101L|HECTD4_ENST00000377560.5_Silent_p.L2351L	p.L2377L	NM_001109662.3	NP_001103132.3					49	7526	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7131C>G		.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019460	0.02078	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.92	-1.84	0.07809	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46596	-0.9180	4	.	.	.	.	7.6182	0.28171	0.3585:0.459:0.1825:0.0	.	.	.	.	C	268	.	.	S	-	2	0	C12orf51	111134734	0.008000	0.16893	0.103000	0.21229	0.182000	0.23217	0.112000	0.15479	-0.089000	0.12484	0.655000	0.94253	TCT		0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	75	0	0	0	1	0	11	75				
HERC1	8925	broad.mit.edu	37	15	63904479	63904479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:63904479G>A	ENST00000443617.2	-	77	14458	c.14371C>T	c.(14371-14373)Cag>Tag	p.Q4791*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4791	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAAATCTCTGAGAAATGTCA	0.428																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14371-14373)Cag>Tag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							50.0	48.0	49.0					15																	63904479		1981	4159	6140	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904479G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14371C>T	15.37:g.63904479G>A	ENSP00000390158:p.Gln4791*						p.Q4791*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14458	-			4791			HECT.		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.14371C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	55	24.466498	0.99960	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.8336	0.96646	0.0:0.0:1.0:0.0	.	.	.	.	X	4791	.	ENSP00000390158:Q4791X	Q	-	1	0	HERC1	61691532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.685000	0.91497	0.555000	0.69702	CAG		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	19	0	0	0	1	0	5	19				
CRNN	49860	broad.mit.edu	37	1	152382990	152382990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:152382990C>G	ENST00000271835.3	-	3	630	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	190	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTCTGCTCTGTCTGCCCA	0.567																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(568-570)Gag>Cag		cornulin							233.0	242.0	239.0					1																	152382990		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382990C>G	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.568G>C	1.37:g.152382990C>G	ENSP00000271835:p.Glu190Gln					RP1-91G5.3_ENST00000411804.1_RNA	p.E190Q	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	630	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		190			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.568G>C	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928889	0.18131	.	.	ENSG00000143536	ENST00000271835	T	0.04970	3.52	4.68	1.74	0.24563	.	0.946627	0.08795	N	0.892623	T	0.01454	0.0047	L	0.33189	0.99	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.48490	-0.9031	10	0.29301	T	0.29	.	4.695	0.12799	0.0:0.6253:0.179:0.1957	.	190	Q9UBG3	CRNN_HUMAN	Q	190	ENSP00000271835:E190Q	ENSP00000271835:E190Q	E	-	1	0	CRNN	150649614	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.767000	0.26575	0.194000	0.20326	0.460000	0.39030	GAG		0.567	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		34	259	0	0	0	1	0	34	259				
MTNR1A	4543	broad.mit.edu	37	4	187455081	187455081	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187455081A>G	ENST00000307161.5	-	2	1016	c.815T>C	c.(814-816)aTc>aCc	p.I272T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	272					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCACTCTGGGATCCTAGGCAC	0.502																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(814-816)aTc>aCc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						73.0	79.0	77.0					4																	187455081		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455081A>G		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.815T>C	4.37:g.187455081A>G	ENSP00000302811:p.Ile272Thr					RP11-215A19.2_ENST00000509111.1_Intron	p.I272T	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	1016	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	272					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.815T>C	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342492	0.61073	.	.	ENSG00000168412	ENST00000307161	T	0.72505	-0.66	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.050400	0.85682	D	0.000000	T	0.81394	0.4813	M	0.83012	2.62	0.58432	D	0.999999	D	0.54964	0.969	P	0.55161	0.77	D	0.85059	0.0933	10	0.87932	D	0	-28.1858	14.3545	0.66727	1.0:0.0:0.0:0.0	.	272	P48039	MTR1A_HUMAN	T	272	ENSP00000302811:I272T	ENSP00000302811:I272T	I	-	2	0	MTNR1A	187692075	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.157000	0.94714	1.803000	0.52742	0.533000	0.62120	ATC		0.502	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			10	102	0	0	0	1	0	10	102				
IL10RB	3588	broad.mit.edu	37	21	34640812	34640812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:34640812C>T	ENST00000290200.2	+	2	271	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	AP000295.9_ENST00000433395.2_Silent_p.L182L|IL10RB-AS1_ENST00000411998.1_RNA	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCACAGCTCAGTACCTAAG	0.532																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(163-165)Cag>Tag		interleukin 10 receptor, beta							92.0	83.0	86.0					21																	34640812		2203	4300	6503	SO:0001587	stop_gained	3588							g.chr21:34640812C>T	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.163C>T	21.37:g.34640812C>T	ENSP00000290200:p.Gln55*					AP000295.9_ENST00000433395.2_Silent_p.L182L	p.Q55*	NM_000628.4	NP_000619.3					2	271	+								Q9BUU4	Nonsense_Mutation	SNP	ENST00000290200.2	37	c.163C>T	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297577	0.81025	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	.	.	.	5.35	4.46	0.54185	.	0.074510	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.5709	10.1823	0.42975	0.0:0.907:0.0:0.093	.	.	.	.	X	55	.	ENSP00000290200:Q55X	Q	+	1	0	IL10RB	33562682	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	0.714000	0.25808	1.249000	0.43950	0.655000	0.94253	CAG		0.532	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			9	46	0	0	0	1	0	9	46				
CDH11	1009	broad.mit.edu	37	16	65032504	65032504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:65032504C>T	ENST00000268603.4	-	4	1099	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CDH11_ENST00000566827.1_Missense_Mutation_p.E36K|CDH11_ENST00000394156.3_Missense_Mutation_p.E162K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATAGGTCTCGTGCAGGAAC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(484-486)Gag>Aag		cadherin 11, type 2, OB-cadherin (osteoblast)							136.0	120.0	126.0					16																	65032504		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032504C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.484G>A	16.37:g.65032504C>T	ENSP00000268603:p.Glu162Lys	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.E36K|CDH11_ENST00000268603.4_Missense_Mutation_p.E162K	p.E162K			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	937	-		Ovarian(137;0.0973)	162			Cadherin 2.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.484G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235699	0.79800	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.60299	0.3;0.2	5.24	5.24	0.73138	Cadherin (3);Cadherin-like (1);	0.148628	0.64402	D	0.000012	T	0.41558	0.1164	N	0.24115	0.695	0.53688	D	0.999979	P;B	0.39044	0.656;0.196	B;B	0.24701	0.055;0.013	T	0.48811	-0.9002	10	0.54805	T	0.06	.	18.3537	0.90348	0.0:1.0:0.0:0.0	.	162;162	P55287-2;P55287	.;CAD11_HUMAN	K	162;162;145	ENSP00000268603:E162K;ENSP00000377711:E162K	ENSP00000268603:E162K	E	-	1	0	CDH11	63590005	0.999000	0.42202	0.981000	0.43875	0.989000	0.77384	5.873000	0.69644	2.884000	0.98904	0.655000	0.94253	GAG		0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	89	0	0	0	1	0	10	89				
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	rs199995119		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10117-10119)tCa>tGa		FAT atypical cadherin 1							126.0	120.0	122.0					4																	187530425		1936	4138	6074	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530425G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10118C>G	4.37:g.187530425G>C	ENSP00000406229:p.Ser3373*	HNSCC(5;0.00058)					p.S3373*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10327	-			3373			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10118C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	18.035670	0.99898	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.35	5.35	0.76521	.	0.128026	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.0611	0.93093	0.0:0.0:1.0:0.0	.	.	.	.	X	3373;3375	.	ENSP00000260147:S3375X	S	-	2	0	FAT1	187767419	1.000000	0.71417	0.806000	0.32338	0.247000	0.25773	7.954000	0.87848	2.510000	0.84645	0.655000	0.94253	TCA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	17	0	0	0	1	0	9	17				
ST18	9705	broad.mit.edu	37	8	53062469	53062469	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:53062469G>A	ENST00000276480.7	-	16	2558	c.1875C>T	c.(1873-1875)gaC>gaT	p.D625D	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	625					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGCAGACTTGTCCAGGATTC	0.408																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1873-1875)gaC>gaT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							223.0	208.0	213.0					8																	53062469		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062469G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1875C>T	8.37:g.53062469G>A							p.D625D	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			16	2558	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	625					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1875C>T	CCDS6149.1																																																																																				0.408	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			7	48	0	0	0	1	0	7	48				
PRTG	283659	broad.mit.edu	37	15	55965788	55965788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:55965788G>A	ENST00000389286.4	-	10	1680	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCCCCGCCGATATTTGGCT	0.498																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1633-1635)Cgg>Tgg		protogenin							95.0	101.0	99.0					15																	55965788		1892	4099	5991	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965788G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1633C>T	15.37:g.55965788G>A	ENSP00000373937:p.Arg545Trp						p.R545W	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1680	-			545			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1633C>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538453	0.65085	.	.	ENSG00000166450	ENST00000389286	T	0.57752	0.38	4.92	3.99	0.46301	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.111469	0.64402	D	0.000013	T	0.70718	0.3256	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.70868	-0.4755	10	0.31617	T	0.26	-13.509	13.2187	0.59875	0.0:0.0:0.7127:0.2873	.	545	Q2VWP7	PRTG_HUMAN	W	545	ENSP00000373937:R545W	ENSP00000373937:R545W	R	-	1	2	PRTG	53753080	0.998000	0.40836	0.340000	0.25575	0.899000	0.52679	2.556000	0.45862	1.172000	0.42781	0.655000	0.94253	CGG		0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		12	97	0	0	0	1	0	12	97				
LETM1	3954	broad.mit.edu	37	4	1825465	1825465	+	Missense_Mutation	SNP	G	G	A	rs550145512		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:1825465G>A	ENST00000302787.2	-	8	1534	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	413	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GATGAGCAGCGATGTGGGGAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		13182	0.001		0.0	False		,,,				2504	0.0					ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1237-1239)tCg>tTg		leucine zipper-EF-hand containing transmembrane protein 1							110.0	97.0	101.0					4																	1825465		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1825465G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1238C>T	4.37:g.1825465G>A	ENSP00000305653:p.Ser413Leu						p.S413L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		8	1534	-			413			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1238C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100281	0.76983	.	.	ENSG00000168924	ENST00000302787	T	0.43688	0.94	4.93	4.93	0.64822	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75059	-0.3451	10	0.87932	D	0	-17.7202	18.1405	0.89638	0.0:0.0:1.0:0.0	.	413	O95202	LETM1_HUMAN	L	413	ENSP00000305653:S413L	ENSP00000305653:S413L	S	-	2	0	LETM1	1795263	1.000000	0.71417	0.259000	0.24435	0.352000	0.29268	9.252000	0.95491	2.277000	0.76020	0.462000	0.41574	TCG		0.632	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			5	51	0	0	0	1	0	5	51				
PTGER2	5732	broad.mit.edu	37	14	52781579	52781579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:52781579G>C	ENST00000245457.5	+	1	467	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	105					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	ACTGGCGCCCGAGAGCCGCGC	0.642																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(313-315)Gag>Cag		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						40.0	37.0	38.0					14																	52781579		2189	4277	6466	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781579G>C		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.313G>C	14.37:g.52781579G>C	ENSP00000245457:p.Glu105Gln					PTGER2_ENST00000557436.1_Intron	p.E105Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	467	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		105					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.313G>C	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643269	0.29246	.	.	ENSG00000125384	ENST00000245457	T	0.37411	1.2	4.83	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	1.507990	0.03561	N	0.226993	T	0.31263	0.0791	L	0.47716	1.5	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.16630	-1.0396	10	0.34782	T	0.22	0.0168	3.5411	0.07811	0.0903:0.3195:0.4257:0.1645	.	105	P43116	PE2R2_HUMAN	Q	105	ENSP00000245457:E105Q	ENSP00000245457:E105Q	E	+	1	0	PTGER2	51851329	0.002000	0.14202	0.140000	0.22221	0.953000	0.61014	0.715000	0.25822	0.511000	0.28236	0.563000	0.77884	GAG		0.642	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			9	57	0	0	0	1	0	9	57				
WDTC1	23038	broad.mit.edu	37	1	27621045	27621045	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:27621045G>A	ENST00000319394.3	+	9	1333	c.798G>A	c.(796-798)ttG>ttA	p.L266L	WDTC1_ENST00000361771.3_Silent_p.L266L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	266					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACAACCGTTTGAGAGTGCTGG	0.527																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(796-798)ttG>ttA		WD and tetratricopeptide repeats 1							117.0	98.0	104.0					1																	27621045		2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27621045G>A	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.798G>A	1.37:g.27621045G>A						WDTC1_ENST00000361771.3_Silent_p.L266L	p.L266L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	9	1333	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	266					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.798G>A																																																																																					0.527	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		8	37	0	0	0	1	0	8	37				
HLA-DQB2	3120	broad.mit.edu	37	6	32726846	32726846	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:32726846C>T	ENST00000437316.2	-	3	490	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	147	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						ACCGAGCAGACCAGCAGGTTG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(427-429)Gtc>Atc		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.chr6:32726846C>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.427G>A	6.37:g.32726846C>T	ENSP00000396330:p.Val143Ile					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I	p.V143I			Q5SR06	Q5SR06_HUMAN			3	488	-			143					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.427G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.411903|2.411903	0.42817|0.42817	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527|ENST00000427449	T;T;T|.	0.02974|.	4.09;4.09;4.09|.	3.41|3.41	3.41|3.41	0.39046|0.39046	.|.	0.393945|.	0.23183|.	U|.	0.050988|.	T|.	0.46658|.	0.1404|.	M|M	0.85542|0.85542	2.76|2.76	0.24382|0.24382	N|N	0.994782|0.994782	B;B|.	0.22604|.	0.037;0.072|.	B;B|.	0.36766|.	0.116;0.232|.	T|.	0.44862|.	-0.9300|.	10|.	0.87932|.	D|.	0|.	.|.	6.7311|6.7311	0.23383|0.23383	0.0:0.8677:0.0:0.1323|0.0:0.8677:0.0:0.1323	rs34293284|rs34293284	143;143|.	A2ADX3;Q5SR06|.	.;.|.	I|X	143|141	ENSP00000396330:V143I;ENSP00000410512:V143I;ENSP00000390431:V143I|.	ENSP00000390431:V143I|.	V|W	-|-	1|3	0|0	HLA-DQB2|HLA-DQB2	32834824|32834824	0.928000|0.928000	0.31464|0.31464	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.298000|0.298000	0.19120|0.19120	1.906000|1.906000	0.55180|0.55180	0.478000|0.478000	0.44815|0.44815	GTC|TGG		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	60	0	0	0	1	0	4	60				
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(10-12)Gtc>Atc		ADAM metallopeptidase domain 2							76.0	77.0	77.0					8																	39695695		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39695695C>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.10G>A	8.37:g.39695695C>T	ENSP00000265708:p.Val4Ile					ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I	p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	1	113	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	4					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.10G>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052393	0.19827	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02158	5.03;4.42;5.28;5.24	3.27	-4.34	0.03666	.	.	.	.	.	T	0.01320	0.0043	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.34587	0.037;0.458;0.219;0.127	B;B;B;B	0.20184	0.005;0.028;0.022;0.008	T	0.43972	-0.9358	8	.	.	.	.	2.5789	0.04813	0.2198:0.1744:0.4884:0.1174	.	4;4;4;4	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	4	ENSP00000343854:V4I;ENSP00000369182:V4I;ENSP00000265708:V4I;ENSP00000429352:V4I	.	V	-	1	0	ADAM2	39814852	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.546000	0.00932	-1.102000	0.03023	-0.363000	0.07495	GTC		0.612	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		7	42	0	0	0	1	0	7	42				
NOTCH1	4851	broad.mit.edu	37	9	139410437	139410437	+	Silent	SNP	C	C	T	rs148331061	byFrequency	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:139410437C>T	ENST00000277541.6	-	10	1740	c.1665G>A	c.(1663-1665)acG>acA	p.T555T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	555	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGCACCTTCCGTGCACACAC	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	16	0.00319489	0.0	0.0043	5008	,	,		16891	0.0		0.0119	False		,,,				2504	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.(1663-1665)acG>acA		notch 1		C		9,4043		0,9,2017	34.0	39.0	38.0		1665	-9.8	0.8	9	dbSNP_134	38	96,8252		0,96,4078	no	coding-synonymous	NOTCH1	NM_017617.3		0,105,6095	TT,TC,CC		1.15,0.2221,0.8468		555/2556	139410437	105,12295	2026	4174	6200	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410437C>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.1665G>A	9.37:g.139410437C>T		HNSCC(8;0.001)					p.T555T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	10	1740	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	555			EGF-like 14; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.1665G>A	CCDS43905.1																																																																																				0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	42	0	0	0	1	0	3	42				
NUTM2A	728118	broad.mit.edu	37	10	88994223	88994223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:88994223C>T	ENST00000381707.2	+	7	2778	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron|NUTM2A-AS1_ENST00000456104.1_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	799																	GGGAACTCATCAGTTCCCATC	0.592																																						ENST00000381707.2																			0											c.(2395-2397)Cag>Tag		NUT family member 2A							18.0	17.0	17.0					10																	88994223		1842	3994	5836	SO:0001587	stop_gained	728118							g.chr10:88994223C>T		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.2395C>T	10.37:g.88994223C>T	ENSP00000371126:p.Gln799*					NUTM2A_ENST00000381689.4_Intron|NUTM2A-AS1_ENST00000451940.2_RNA	p.Q799*	NM_001099338.1	NP_001092808.1					7	2778	+								A6NMX5|C9JDI1|Q5VZW1	Nonsense_Mutation	SNP	ENST00000381707.2	37	c.2395C>T	CCDS44452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.12|12.12	1.843311|1.843311	0.32606|0.32606	.|.	.|.	ENSG00000184923|ENSG00000184923	ENST00000381707;ENST00000416901;ENST00000432986|ENST00000451286	.|.	.|.	.|.	1.15|1.15	-2.31|-2.31	0.06765|0.06765	.|.	1.247800|.	0.05853|.	N|.	0.621480|.	.|T	.|0.49508	.|0.1561	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38866	.|-0.9641	.|4	0.11182|.	T|.	0.66|.	.|.	5.53|5.53	0.16978|0.16978	0.406:0.594:0.0:0.0|0.406:0.594:0.0:0.0	.|.	.|.	.|.	.|.	X|L	799;726;183|576	.|.	ENSP00000371126:Q799X|.	Q|S	+|+	1|2	0|0	FAM22A|FAM22A	88984203|88984203	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.125000|0.125000	0.20455|0.20455	-0.208000|-0.208000	0.09371|0.09371	-0.735000|-0.735000	0.04837|0.04837	0.074000|0.074000	0.15403|0.15403	CAG|TCA		0.592	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		3	23	0	0	0	1	0	3	23				
IQSEC2	23096	broad.mit.edu	37	X	53277968	53277968	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277968G>A	ENST00000375368.5	-	5	2564	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	IQSEC2_ENST00000396435.3_Silent_p.L798L|IQSEC2_ENST00000375365.2_Silent_p.L593L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	788	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTGCCGGCTGAGGCCTTTCC	0.602																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2392-2394)ctC>ctT		IQ motif and Sec7 domain 2							86.0	63.0	70.0					X																	53277968		2203	4300	6503	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277968G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2364C>T	X.37:g.53277968G>A						IQSEC2_ENST00000375365.2_Silent_p.L593L|IQSEC2_ENST00000375368.5_Silent_p.L788L	p.L798L	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			6	2594	-			788			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.2394C>T																																																																																					0.602	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		11	16	0	0	0	1	0	11	16				
LMF2	91289	broad.mit.edu	37	22	50945072	50945072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr22:50945072G>C	ENST00000474879.2	-	3	387	c.372C>G	c.(370-372)ttC>ttG	p.F124L	LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000420993.2_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.F124L|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.F99L|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACCACTGGAAATAAAGGA	0.657																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(295-297)ttC>ttG		lipase maturation factor 2							51.0	57.0	55.0					22																	50945072		2203	4300	6503	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50945072G>C	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.372C>G	22.37:g.50945072G>C	ENSP00000424381:p.Phe124Leu					LMF2_ENST00000380796.3_Missense_Mutation_p.F124L|LMF2_ENST00000474879.2_Missense_Mutation_p.F124L|LMF2_ENST00000505981.1_5'UTR	p.F99L			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	465	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	124					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.297C>G	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.9|25.9	4.681293|4.681293	0.88542|0.88542	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.050088|.	0.85682|.	D|.	0.000000|.	T|T	0.79209|0.79209	0.4407|0.4407	M|M	0.86740|0.86740	2.835|2.835	0.54753|0.54753	D|D	0.999985|0.999985	D;D|.	0.89917|.	1.0;0.992|.	D;P|.	0.83275|.	0.996;0.894|.	T|T	0.83017|0.83017	-0.0169|-0.0169	10|5	0.66056|.	D|.	0.02|.	-7.8622|-7.8622	15.5691|15.5691	0.76320|0.76320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124;99|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	L|A	124;124;99|131	ENSP00000370173:F124L;ENSP00000424381:F124L;ENSP00000216080:F99L|.	ENSP00000216080:F99L|.	F|P	-|-	3|1	2|0	LMF2|LMF2	49291938|49291938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.786000|3.786000	0.55431|0.55431	2.089000|2.089000	0.63090|0.63090	0.461000|0.461000	0.40582|0.40582	TTC|CCA		0.657	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		10	63	0	0	0	1	0	10	63				
PDK2	5164	broad.mit.edu	37	17	48182772	48182772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:48182772G>A	ENST00000503176.1	+	3	459	c.298G>A	c.(298-300)Gac>Aac	p.D100N	PDK2_ENST00000007708.3_Missense_Mutation_p.D36N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	100					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GGAGTTCCTGGACAAGGATCC	0.652									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(298-300)Gac>Aac		pyruvate dehydrogenase kinase, isozyme 2							37.0	35.0	36.0					17																	48182772		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48182772G>A	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.298G>A	17.37:g.48182772G>A	ENSP00000420927:p.Asp100Asn					PDK2_ENST00000007708.3_Missense_Mutation_p.D36N	p.D100N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			3	459	+			100					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.298G>A	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571518	0.45798	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238;ENST00000510219	T;T;T;T;T;T;T	0.54675	0.98;1.52;1.55;0.56;1.53;1.55;1.55	4.67	4.67	0.58626	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.069007	0.56097	D	0.000031	T	0.45135	0.1327	L	0.43701	1.375	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.34875	-0.9811	10	0.17369	T	0.5	-29.3314	16.3143	0.82909	0.0:0.0:1.0:0.0	.	100	Q15119	PDK2_HUMAN	N	36;36;100;36;36;36;5	ENSP00000007708:D36N;ENSP00000427682:D36N;ENSP00000420927:D100N;ENSP00000425265:D36N;ENSP00000425615:D36N;ENSP00000421178:D36N;ENSP00000423310:D5N	ENSP00000007708:D36N	D	+	1	0	PDK2	45537771	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.107000	0.71517	2.142000	0.66516	0.462000	0.41574	GAC		0.652	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		3	21	0	0	0	1	0	3	21				
GPR123	84435	broad.mit.edu	37	10	134898352	134898352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:134898352G>C	ENST00000607359.1	+	8	1414	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCAGCGGGGAGCTGAGCCT	0.647																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1414-1416)Gag>Cag		G protein-coupled receptor 123							33.0	39.0	37.0					10																	134898352		1568	3582	5150	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134898352G>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1414G>C	10.37:g.134898352G>C	ENSP00000475778:p.Glu472Gln						p.E472Q			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	8	1414	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	220					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.1414G>C		.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395207	0.04899	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.06	-0.51	0.11973	.	12.913800	0.00465	U	0.000104	T	0.15652	0.0377	.	.	.	0.31099	N	0.710612	P	0.50710	0.938	B	0.34931	0.192	T	0.24621	-1.0155	7	0.87932	D	0	.	3.2704	0.06879	0.4701:0.0:0.5299:0.0	.	472	Q86SQ6-1	.	Q	472	.	ENSP00000357566:E472Q	E	+	1	0	GPR123	134748342	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	0.595000	0.24029	-0.151000	0.11176	0.485000	0.47835	GAG		0.647	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			4	35	0	0	0	1	0	4	35				
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:215844402C>G	ENST00000307340.3	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000366943.2_Missense_Mutation_p.R4682T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14044-14046)aGa>aCa		Usher syndrome 2A (autosomal recessive, mild)							173.0	170.0	171.0					1																	215844402		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844402C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14045G>C	1.37:g.215844402C>G	ENSP00000305941:p.Arg4682Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T	p.R4682T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14431	-			4682			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14045G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021558	0.07634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.09	2.19	0.27852	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.605103	0.13682	U	0.370113	T	0.20820	0.0501	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18398	-1.0338	10	0.14252	T	0.57	.	1.4075	0.02283	0.1857:0.4565:0.1205:0.2373	.	4682	O75445	USH2A_HUMAN	T	4682	ENSP00000305941:R4682T;ENSP00000355910:R4682T	ENSP00000305941:R4682T	R	-	2	0	USH2A	213911025	0.004000	0.15560	0.003000	0.11579	0.029000	0.11900	2.083000	0.41615	0.259000	0.21709	0.557000	0.71058	AGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	69	0	0	0	1	0	12	69				
EIF5A	1984	broad.mit.edu	37	17	7213022	7213022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:7213022C>T	ENST00000336458.8	+	2	469	c.68C>T	c.(67-69)tCa>tTa	p.S23L	EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	23	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ATGCAGTGCTCAGCATTACGT	0.522																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(67-69)tCa>tTa		eukaryotic translation initiation factor 5A							192.0	177.0	183.0					17																	7213022		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7213022C>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.68C>T	17.37:g.7213022C>T	ENSP00000336776:p.Ser23Leu					EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L	p.S23L	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			2	469	+			23			DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.68C>T	CCDS11099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.517130|4.517130	0.85495|0.85495	.|.	.|.	ENSG00000132507|ENSG00000132507	ENST00000355068|ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.|T;T;T;T	.|0.48522	.|0.81;0.81;0.81;0.81	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	.|0.000000	.|0.64402	.|D	.|0.000014	.|T	.|0.78413	.|0.4279	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.976;0.992	.|D	.|0.86432	.|0.1761	.|10	0.87932|0.72032	D|D	0|0.01	-5.7685|-5.7685	15.3285|15.3285	0.74186|0.74186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|23;53	.|P63241;P63241-2	.|IF5A1_HUMAN;.	X|L	21|53;23;23;23	.|ENSP00000336702:S53L;ENSP00000336776:S23L;ENSP00000390677:S23L;ENSP00000396073:S23L	ENSP00000347180:Q21X|ENSP00000336702:S53L	Q|S	+|+	1|2	0|0	EIF5A|EIF5A	7153746|7153746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.428000|5.428000	0.66489|0.66489	2.149000|2.149000	0.67028|0.67028	0.385000|0.385000	0.25706|0.25706	CAG|TCA		0.522	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		10	119	0	0	0	1	0	10	119				
RSPH3	83861	broad.mit.edu	37	6	159420575	159420575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:159420575G>A	ENST00000252655.1	-	1	623	c.434C>T	c.(433-435)tCa>tTa	p.S145L	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_Missense_Mutation_p.S3L|RSPH3_ENST00000297262.3_Missense_Mutation_p.S145L|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.S3L	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	145										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGTCAGCGCTGAGGCCATGTC	0.652																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(7-9)tCa>tTa		radial spoke 3 homolog (Chlamydomonas)							75.0	83.0	80.0					6																	159420575		2203	4300	6503	SO:0001583	missense	83861							g.chr6:159420575G>A	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.434C>T	6.37:g.159420575G>A	ENSP00000252655:p.Ser145Leu					RSPH3_ENST00000252655.1_Missense_Mutation_p.S145L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.S3L|RSPH3_ENST00000297262.3_Missense_Mutation_p.S145L	p.S3L			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	644	-		Breast(66;0.00519)|Ovarian(120;0.123)	145					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.8C>T	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837851	0.50951	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.23754	2.44;2.31;2.21;1.89	5.01	3.22	0.36961	.	0.921114	0.09174	N	0.838479	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.41305	-0.9516	10	0.36615	T	0.2	-0.2634	8.25	0.31712	0.1893:0.0:0.8107:0.0	.	145;145	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	L	3;3;145;145	ENSP00000356036:S3L;ENSP00000393195:S3L;ENSP00000252655:S145L;ENSP00000297262:S145L	ENSP00000252655:S145L	S	-	2	0	RSPH3	159340563	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.050000	0.14120	0.515000	0.28320	-0.244000	0.11960	TCA		0.652	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		13	80	0	0	0	1	0	13	80				
FAT1	2195	broad.mit.edu	37	4	187628929	187628929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:187628929C>A	ENST00000441802.2	-	2	2262	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	685					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGAGCTTCTCTGCCAGCATT	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2053-2055)Gag>Tag		FAT atypical cadherin 1							43.0	41.0	42.0					4																	187628929		1886	4129	6015	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628929C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2053G>T	4.37:g.187628929C>A	ENSP00000406229:p.Glu685*	HNSCC(5;0.00058)					p.E685*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2262	-			685						Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2053G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	40	8.289650	0.98745	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.3477	0.94372	0.0:1.0:0.0:0.0	.	.	.	.	X	685	.	ENSP00000260147:E685X	E	-	1	0	FAT1	187865923	1.000000	0.71417	0.991000	0.47740	0.922000	0.55478	7.651000	0.83577	2.800000	0.96347	0.650000	0.86243	GAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	41	1	0	0.014758	1	0.0150576	5	41				
CACNG6	59285	broad.mit.edu	37	19	54515361	54515361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:54515361G>A	ENST00000252729.2	+	4	1291	c.701G>A	c.(700-702)gGg>gAg	p.G234E	CACNG6_ENST00000352529.1_Missense_Mutation_p.G163E|CACNG6_ENST00000346968.2_Missense_Mutation_p.G188E	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	234					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGCTGTTGGGGGCCGGCTGC	0.706																																						ENST00000252729.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(700-702)gGg>gAg		calcium channel, voltage-dependent, gamma subunit 6							25.0	30.0	29.0					19																	54515361		2190	4279	6469	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515361G>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.701G>A	19.37:g.54515361G>A	ENSP00000252729:p.Gly234Glu					CACNG6_ENST00000346968.2_Missense_Mutation_p.G188E|CACNG6_ENST00000352529.1_Missense_Mutation_p.G163E	p.G234E	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1291	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		234						Missense_Mutation	SNP	ENST00000252729.2	37	c.701G>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352064	0.61183	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.68903	-0.36;1.38;1.37	3.76	-7.53	0.01336	.	0.144057	0.44902	D	0.000411	T	0.73118	0.3546	M	0.65498	2.005	0.09310	N	0.999999	D;D;P	0.76494	0.999;0.985;0.946	D;P;P	0.76575	0.988;0.859;0.877	T	0.71474	-0.4582	10	0.51188	T	0.08	-9.9173	13.8523	0.63504	0.0842:0.7232:0.1926:0.0	.	163;188;234	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	E	234;163;188	ENSP00000252729:G234E;ENSP00000319135:G163E;ENSP00000319097:G188E	ENSP00000252729:G234E	G	+	2	0	CACNG6	59207173	0.609000	0.26975	0.002000	0.10522	0.915000	0.54546	-0.012000	0.12699	-1.183000	0.02723	-0.311000	0.09066	GGG		0.706	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			14	86	0	0	0	1	0	14	86				
IQSEC2	23096	broad.mit.edu	37	X	53277994	53277994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:53277994G>C	ENST00000375368.5	-	5	2538	c.2338C>G	c.(2338-2340)Cac>Gac	p.H780D	IQSEC2_ENST00000396435.3_Missense_Mutation_p.H790D|IQSEC2_ENST00000375365.2_Missense_Mutation_p.H585D			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	780	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGATGAAGTGAGCCACTCCC	0.557																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2368-2370)Cac>Gac		IQ motif and Sec7 domain 2							76.0	53.0	61.0					X																	53277994		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277994G>C	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2338C>G	X.37:g.53277994G>C	ENSP00000364517:p.His780Asp					IQSEC2_ENST00000375365.2_Missense_Mutation_p.H585D|IQSEC2_ENST00000375368.5_Missense_Mutation_p.H780D	p.H790D	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			6	2568	-			780			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2368C>G		.	.	.	.	.	.	.	.	.	.	G	18.52	3.641624	0.67244	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.53423	0.62;0.62;0.62	5.74	5.74	0.90152	.	0.054750	0.64402	D	0.000001	T	0.46776	0.1410	L	0.38175	1.15	0.49389	D	0.999789	B;P	0.45827	0.073;0.867	B;P	0.44897	0.024;0.463	T	0.50285	-0.8846	10	0.87932	D	0	.	17.5784	0.87957	0.0:0.0:1.0:0.0	.	790;585	Q5JU85-2;Q5JU85-3	.;.	D	790;780;585	ENSP00000379712:H790D;ENSP00000364517:H780D;ENSP00000364514:H585D	ENSP00000364514:H585D	H	-	1	0	IQSEC2	53294719	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.869000	0.99810	2.422000	0.82143	0.600000	0.82982	CAC		0.557	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		12	16	0	0	0	1	0	12	16				
IZUMO2	126123	broad.mit.edu	37	19	50657981	50657981	+	Missense_Mutation	SNP	C	C	T	rs200272430	byFrequency	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:50657981C>T	ENST00000293405.3	-	6	499	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	167						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGTTGCCGGTCGACTGGGGCG	0.632													C|||	2	0.000399361	0.0015	0.0	5008	,	,		11428	0.0		0.0	False		,,,				2504	0.0					ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(499-501)Gac>Aac		IZUMO family member 2							88.0	98.0	95.0					19																	50657981		1984	4125	6109	SO:0001583	missense	126123					integral to membrane		g.chr19:50657981C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.499G>A	19.37:g.50657981C>T	ENSP00000293405:p.Asp167Asn						p.D167N	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			6	499	-			167					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.499G>A	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.452691|1.452691	0.26074|0.26074	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000377000|ENST00000293405	.|T	.|0.25414	.|1.8	3.43|3.43	0.00418|0.00418	0.14057|0.14057	.|.	.|.	.|.	.|.	.|.	.|T	.|0.15609	.|0.0376	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.27791	.|0.189	.|B	.|0.17433	.|0.018	.|T	.|0.20538	.|-1.0272	.|9	.|0.72032	.|D	.|0.01	.|.	5.791|5.791	0.18361|0.18361	0.0:0.6315:0.0:0.3685|0.0:0.6315:0.0:0.3685	.|.	.|167	.|Q6UXV1	.|IZUM2_HUMAN	.|N	-1|167	.|ENSP00000293405:D167N	.|ENSP00000293405:D167N	.|D	-|-	.|1	.|0	IZUMO2|IZUMO2	55349793|55349793	0.117000|0.117000	0.22190|0.22190	0.006000|0.006000	0.13384|0.13384	0.076000|0.076000	0.17211|0.17211	0.864000|0.864000	0.27926|0.27926	0.083000|0.083000	0.17047|0.17047	0.305000|0.305000	0.20034|0.20034	.|GAC		0.632	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		15	78	0	0	0	1	0	15	78				
TAP1	6890	broad.mit.edu	37	6	32813460	32813460	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:32813460G>A	ENST00000354258.4	-	11	2484	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L	PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000395339.3_5'Flank|TAP1_ENST00000425148.2_Silent_p.L514L|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000374882.3_5'Flank|PSMB8_ENST00000374881.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	775	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCTCCTTCCAGAAAGAGGATG	0.612																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(2323-2325)Ctg>Ttg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							54.0	54.0	54.0					6																	32813460		1509	2708	4217	SO:0001819	synonymous_variant	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32813460G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2323C>T	6.37:g.32813460G>A						XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Silent_p.L514L|PSMB9_ENST00000395330.1_Intron	p.L775L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			11	2484	-			775			ABC transporter.		Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	c.2323C>T	CCDS4758.1																																																																																				0.612	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		12	54	0	0	0	1	0	12	54				
ACVR1C	130399	broad.mit.edu	37	2	158397654	158397654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:158397654G>C	ENST00000243349.8	-	7	1533	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	ACVR1C_ENST00000348328.5_Missense_Mutation_p.I234M|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I311M|ACVR1C_ENST00000409680.3_Missense_Mutation_p.I341M	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAACAGAATAGATGTCAGCTC	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1171-1173)atC>atG		activin A receptor, type IC							144.0	146.0	146.0					2																	158397654		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397654G>C	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1173C>G	2.37:g.158397654G>C	ENSP00000243349:p.Ile391Met					ACVR1C_ENST00000409680.3_Missense_Mutation_p.I341M|ACVR1C_ENST00000348328.5_Missense_Mutation_p.I234M|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I311M	p.I391M	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1533	-			391			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1173C>G	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807989	0.50421	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.3	0.676	0.17958	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000036	D	0.92473	0.7610	N	0.21282	0.65	0.49213	D	0.999763	D;B;B	0.58620	0.983;0.15;0.447	D;P;P	0.76071	0.987;0.507;0.853	D	0.87173	0.2222	10	0.16420	T	0.52	.	8.4482	0.32856	0.0995:0.0:0.6193:0.2812	.	234;311;391	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	M	391;341;234;311	ENSP00000243349:I391M;ENSP00000387168:I341M;ENSP00000335139:I234M;ENSP00000335178:I311M	ENSP00000243349:I391M	I	-	3	3	ACVR1C	158105900	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.293000	0.19029	0.300000	0.22699	0.591000	0.81541	ATC		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		8	44	0	0	0	1	0	8	44				
GLRA2	2742	broad.mit.edu	37	X	14627288	14627288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:14627288G>A	ENST00000218075.4	+	7	1421	c.891G>A	c.(889-891)atG>atA	p.M297I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M297I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M208I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	297					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCTTAACGATGACCACCCAGA	0.488																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(889-891)atG>atA		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						76.0	75.0	75.0					X																	14627288		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627288G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.891G>A	X.37:g.14627288G>A	ENSP00000218075:p.Met297Ile					GLRA2_ENST00000443437.2_Missense_Mutation_p.M208I|GLRA2_ENST00000355020.4_Missense_Mutation_p.M297I	p.M297I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			7	1421	+	Hepatocellular(33;0.128)		297					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.891G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137057	0.77775	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.87571	-2.27;-2.27;-2.27	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	L	0.33668	1.02	0.80722	D	1	P;P;B	0.46277	0.875;0.705;0.357	P;P;B	0.56865	0.808;0.708;0.155	D	0.90508	0.4479	10	0.87932	D	0	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	281;297;297	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	I	208;297;297	ENSP00000387756:M208I;ENSP00000218075:M297I;ENSP00000347123:M297I	ENSP00000218075:M297I	M	+	3	0	GLRA2	14537209	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.771000	0.98977	2.264000	0.75181	0.600000	0.82982	ATG		0.488	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			8	25	0	0	0	1	0	8	25				
FAM227B	196951	broad.mit.edu	37	15	49867302	49867302	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:49867302C>T	ENST00000299338.6	-	8	854	c.551G>A	c.(550-552)aGa>aAa	p.R184K	FAM227B_ENST00000561064.1_Missense_Mutation_p.R184K	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	184																	TTTAAAAACTCTTTCCTATGG	0.333																																						ENST00000299338.6																			0											c.(550-552)aGa>aAa		family with sequence similarity 227, member B							42.0	46.0	45.0					15																	49867302		2196	4293	6489	SO:0001583	missense	196951							g.chr15:49867302C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.551G>A	15.37:g.49867302C>T	ENSP00000299338:p.Arg184Lys					FAM227B_ENST00000561064.1_Missense_Mutation_p.R184K	p.R184K	NM_152647.2	NP_689860.2					8	854	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.551G>A	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	2.306	-0.359009	0.05138	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.55	-0.0792	0.13711	.	0.278625	0.25642	N	0.029271	T	0.02848	0.0085	N	0.00053	-2.39	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42258	-0.9462	9	0.02654	T	1	-11.4846	5.3488	0.16024	0.1427:0.1204:0.0:0.7369	.	184;184	Q96M60-2;Q96M60	.;CO033_HUMAN	K	184	.	ENSP00000299338:R184K	R	-	2	0	C15orf33	47654594	0.003000	0.15002	0.070000	0.20053	0.454000	0.32378	0.001000	0.13038	-0.184000	0.10567	-0.448000	0.05591	AGA		0.333	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		3	12	0	0	0	1	0	3	12				
TMEM200C	645369	broad.mit.edu	37	18	5891773	5891773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:5891773C>T	ENST00000581347.2	-	3	935	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R97Q|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	97						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGTTGGGACCCGGTGGCTGCT	0.687																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(289-291)cGg>cAg		transmembrane protein 200C							31.0	39.0	36.0					18																	5891773		1936	4129	6065	SO:0001583	missense	645369					integral to membrane		g.chr18:5891773C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.290G>A	18.37:g.5891773C>T	ENSP00000463375:p.Arg97Gln					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R97Q	p.R97Q			A6NKL6	T200C_HUMAN			3	935	-			97						Missense_Mutation	SNP	ENST00000581347.2	37	c.290G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054160	0.19907	.	.	ENSG00000206432	ENST00000383490	.	.	.	3.9	3.02	0.34903	.	.	.	.	.	T	0.25382	0.0617	L	0.50333	1.59	0.09310	N	1	P	0.35844	0.524	B	0.25140	0.058	T	0.09796	-1.0658	8	0.23891	T	0.37	.	7.2255	0.26012	0.0:0.7259:0.0:0.2741	.	97	A6NKL6	T200C_HUMAN	Q	97	.	ENSP00000372982:R97Q	R	-	2	0	TMEM200C	5881773	0.001000	0.12720	0.026000	0.17262	0.266000	0.26442	0.799000	0.27028	0.981000	0.38548	0.460000	0.39030	CGG		0.687	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		8	44	0	0	0	1	0	8	44				
OR51D1	390038	broad.mit.edu	37	11	4661698	4661698	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:4661698C>T	ENST00000357605.2	+	1	754	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	226						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)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTCTTCATTGGCTTCT	0.498																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(676-678)ttC>ttT		olfactory receptor, family 51, subfamily D, member 1							239.0	203.0	215.0					11																	4661698		2201	4298	6499	SO:0001819	synonymous_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661698C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.678C>T	11.37:g.4661698C>T							p.F226F	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	754	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	226					B9EIK4	Silent	SNP	ENST00000357605.2	37	c.678C>T	CCDS31357.1																																																																																				0.498	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		14	76	0	0	0	1	0	14	76				
METTL3	56339	broad.mit.edu	37	14	21969183	21969183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21969183G>A	ENST00000298717.4	-	5	1139	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	330					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTCATAGTGAACATACTTG	0.443																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(988-990)Cac>Tac		methyltransferase like 3							73.0	71.0	71.0					14																	21969183		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969183G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.988C>T	14.37:g.21969183G>A	ENSP00000298717:p.His330Tyr					METTL3_ENST00000538267.1_3'UTR	p.H330Y	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1139	-	all_cancers(95;0.000628)		330					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.988C>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666495	0.88251	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79923	-0.1598	9	0.87932	D	0	-10.6331	17.9303	0.88994	0.0:0.0:1.0:0.0	.	330	Q86U44	MTA70_HUMAN	Y	330	.	ENSP00000298717:H330Y	H	-	1	0	METTL3	21039023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.803000	0.91915	2.760000	0.94817	0.655000	0.94253	CAC		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		4	32	0	0	0	1	0	4	32				
VIPR2	7434	broad.mit.edu	37	7	158824727	158824727	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:158824727G>A	ENST00000262178.2	-	11	1188	c.1003C>T	c.(1003-1005)Ccg>Tcg	p.P335S	VIPR2_ENST00000402066.1_Missense_Mutation_p.P476S|VIPR2_ENST00000377633.3_Missense_Mutation_p.P319S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	335					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCGAACAGCGGGATAAGCAGG	0.587																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1003-1005)Ccg>Tcg		vasoactive intestinal peptide receptor 2							87.0	84.0	85.0					7																	158824727		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158824727G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1003C>T	7.37:g.158824727G>A	ENSP00000262178:p.Pro335Ser					VIPR2_ENST00000377633.3_Missense_Mutation_p.P319S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P476S	p.P335S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	11	1188	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	335					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.1003C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905061	0.92035	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.35605	1.3;1.3;1.3	5.22	5.22	0.72569	GPCR, family 2-like (1);	0.000000	0.52532	D	0.000067	T	0.74566	0.3733	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84641	0.0695	9	.	.	.	.	16.6128	0.84892	0.0:0.0:1.0:0.0	.	335	P41587	VIPR2_HUMAN	S	335;319;476	ENSP00000262178:P335S;ENSP00000366860:P319S;ENSP00000384497:P476S	.	P	-	1	0	VIPR2	158517488	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	8.655000	0.91098	2.599000	0.87857	0.491000	0.48974	CCG		0.587	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		7	61	0	0	0	1	0	7	61				
CACNA2D4	93589	broad.mit.edu	37	12	1949979	1949979	+	Missense_Mutation	SNP	G	G	A	rs552472772		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1949979G>A	ENST00000382722.5	-	26	2839	c.2477C>T	c.(2476-2478)gCg>gTg	p.A826V	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A826V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A687V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A801V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A762V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	826					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGGTTCACCCGCACTTTCTGG	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		16234	0.001		0.0	False		,,,				2504	0.0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2476-2478)gCg>gTg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							72.0	78.0	76.0					12																	1949979		2092	4206	6298	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1949979G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2477C>T	12.37:g.1949979G>A	ENSP00000372169:p.Ala826Val					CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A826V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A687V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A801V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A762V	p.A826V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	26	2839	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	826					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2477C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	g	9.002	0.980303	0.18812	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06849	3.25	4.45	-1.25	0.09405	.	1.819320	0.02130	N	0.056359	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B	0.26318	0.114;0.146	B;B	0.19148	0.024;0.017	T	0.31194	-0.9952	10	0.28530	T	0.3	.	0.5	0.00578	0.3103:0.1602:0.3371:0.1923	.	826;826	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	762;826;826	ENSP00000372169:A826V	ENSP00000280663:A826V	A	-	2	0	CACNA2D4	1820240	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.458000	0.21892	-0.050000	0.13356	-0.215000	0.12644	GCG		0.562	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	55	0	0	0	1	0	11	55				
LIPE	3991	broad.mit.edu	37	19	42914582	42914582	+	Silent	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:42914582C>A	ENST00000244289.4	-	2	1572	c.1296G>T	c.(1294-1296)ctG>ctT	p.L432L	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	432					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGTAACCAGCAGGCGCTGGG	0.637																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1294-1296)ctG>ctT		lipase, hormone-sensitive							40.0	41.0	41.0					19																	42914582		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42914582C>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1296G>T	19.37:g.42914582C>A						LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	p.L432L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			2	1572	-		Prostate(69;0.00682)	432					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1296G>T	CCDS12607.1																																																																																				0.637	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		3	43	1	0	0.150653	1	0.152936	3	43				
NBN	4683	broad.mit.edu	37	8	90976656	90976656	+	Missense_Mutation	SNP	G	G	C	rs121908973		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:90976656G>C	ENST00000265433.3	-	8	1130	c.976C>G	c.(976-978)Cag>Gag	p.Q326E	NBN_ENST00000409330.1_Missense_Mutation_p.Q244E	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	326	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGATGGCCCTGAGGATCACAG	0.333								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27	GRCh37	CM981376	NBN	M	rs121908973	c.(976-978)Cag>Gag	Homologous recombination	nibrin							112.0	110.0	111.0					8																	90976656		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90976656G>C	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.976C>G	8.37:g.90976656G>C	ENSP00000265433:p.Gln326Glu					NBN_ENST00000409330.1_Missense_Mutation_p.Q244E	p.Q326E	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		8	1130	-			326					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.976C>G	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299522	0.23650	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.58506	0.35;0.33	5.55	3.59	0.41128	.	0.989118	0.08273	N	0.971199	T	0.56140	0.1965	L	0.56769	1.78	0.21782	N	0.999547	B;B	0.18013	0.025;0.025	B;B	0.21708	0.036;0.036	T	0.50320	-0.8842	10	0.51188	T	0.08	3.6941	10.5594	0.45135	0.0:0.1426:0.7101:0.1472	.	326;326	A6H8Y5;O60934	.;NBN_HUMAN	E	326;244;326	ENSP00000265433:Q326E;ENSP00000386924:Q244E	ENSP00000265433:Q326E	Q	-	1	0	NBN	91045832	0.993000	0.37304	0.735000	0.30896	0.737000	0.42083	3.858000	0.55979	1.412000	0.46977	0.643000	0.83706	CAG		0.333	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		4	35	0	0	0	1	0	4	35				
CDH10	1008	broad.mit.edu	37	5	24537718	24537718	+	Silent	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:24537718A>G	ENST00000264463.4	-	3	804	c.297T>C	c.(295-297)ggT>ggC	p.G99G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAAGAGTACCAGCTCCAT	0.368										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.(295-297)ggT>ggC		cadherin 10, type 2 (T2-cadherin)							88.0	86.0	87.0					5																	24537718		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537718A>G	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.297T>C	5.37:g.24537718A>G		HNSCC(23;0.051)					p.G99G	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	804	-			99			Cadherin 1.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.297T>C	CCDS3892.1																																																																																				0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		5	19	0	0	0	1	0	5	19				
DNAH9	1770	broad.mit.edu	37	17	11672474	11672474	+	Silent	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:11672474G>T	ENST00000262442.4	+	38	7448	c.7380G>T	c.(7378-7380)gtG>gtT	p.V2460V	DNAH9_ENST00000454412.2_Silent_p.V2460V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2460	AAA 3. {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)		CCATCCGTGTGTGCTACTTCA	0.617																																						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.(7378-7380)gtG>gtT		dynein, axonemal, heavy chain 9							100.0	96.0	97.0					17																	11672474		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.chr17:11672474G>T	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.7380G>T	17.37:g.11672474G>T						DNAH9_ENST00000454412.2_Silent_p.V2460V	p.V2460V	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)	38	7448	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2460			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7380G>T	CCDS11160.1																																																																																				0.617	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		20	84	1	0	2.39187e-15	1	2.54374e-15	20	84				
SLC25A33	84275	broad.mit.edu	37	1	9640095	9640095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:9640095G>A	ENST00000302692.6	+	6	776	c.566G>A	c.(565-567)gGa>gAa	p.G189E		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	189					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTCTATAGAGGATTAACTGCC	0.418																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(565-567)gGa>gAa		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							66.0	58.0	61.0					1																	9640095		2203	4296	6499	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9640095G>A	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.566G>A	1.37:g.9640095G>A	ENSP00000306328:p.Gly189Glu						p.G189E	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	6	776	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	189						Missense_Mutation	SNP	ENST00000302692.6	37	c.566G>A	CCDS103.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133998	0.94517	.	.	ENSG00000171612	ENST00000302692	D	0.95821	-3.82	5.66	5.66	0.87406	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99327	1.0908	10	0.87932	D	0	-21.6683	19.1131	0.93326	0.0:0.0:1.0:0.0	.	189	Q9BSK2	S2533_HUMAN	E	189	ENSP00000306328:G189E	ENSP00000306328:G189E	G	+	2	0	SLC25A33	9562682	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GGA		0.418	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		4	20	0	0	0	1	0	4	20				
PPP3CA	5530	broad.mit.edu	37	4	102019535	102019535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:102019535C>T	ENST00000394854.3	-	5	1314	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D211N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D113N|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D144N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D211N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	211	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTCTGATATCATCTAAAGTG	0.398																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(631-633)Gat>Aat		protein phosphatase 3, catalytic subunit, alpha isozyme							111.0	105.0	107.0					4																	102019535		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102019535C>T		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.631G>A	4.37:g.102019535C>T	ENSP00000378323:p.Asp211Asn					PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D211N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D113N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D144N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D211N|PPP3CA_ENST00000510292.1_5'UTR	p.D211N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	5	1314	-			211			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.631G>A	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044287	0.93685	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	4.51	4.51	0.55191	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.055034	0.64402	D	0.000002	T	0.33381	0.0861	M	0.91249	3.19	0.80722	D	1	D;D;P;D;D	0.76494	0.991;0.999;0.926;0.998;0.999	D;D;B;D;D	0.80764	0.939;0.991;0.36;0.99;0.994	T	0.47114	-0.9142	10	0.87932	D	0	-16.3282	17.2151	0.86941	0.0:1.0:0.0:0.0	.	211;211;211;113;144	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	N	211;211;211;113;144	ENSP00000378323:D211N;ENSP00000320580:D211N;ENSP00000378322:D211N;ENSP00000422990:D113N;ENSP00000429350:D144N	ENSP00000320580:D211N	D	-	1	0	PPP3CA	102238558	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.496000	0.81526	2.225000	0.72522	0.467000	0.42956	GAT		0.398	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		6	27	0	0	0	1	0	6	27				
OR4F15	390649	broad.mit.edu	37	15	102358936	102358936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:102358936C>T	ENST00000332238.4	+	1	571	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGATCTCCCTCGGCTCCTCAG	0.428																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(547-549)Cgg>Tgg		olfactory receptor, family 4, subfamily F, member 15							234.0	213.0	220.0					15																	102358936		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358936C>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.547C>T	15.37:g.102358936C>T	ENSP00000333184:p.Arg183Trp						p.R183W	NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	571	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		183					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.547C>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	8.243	0.807341	0.16467	.	.	ENSG00000182854	ENST00000332238	T	0.00137	8.68	5.57	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.373938	0.23025	N	0.052820	T	0.00178	0.0005	L	0.60455	1.87	0.09310	N	1	B	0.33266	0.404	B	0.34931	0.192	T	0.34403	-0.9830	9	.	.	.	.	12.3916	0.55362	0.0:0.9194:0.0:0.0806	.	183	Q8NGB8	O4F15_HUMAN	W	183	ENSP00000333184:R183W	.	R	+	1	2	OR4F15	100176459	0.001000	0.12720	0.037000	0.18230	0.417000	0.31264	0.894000	0.28350	1.593000	0.50029	0.650000	0.86243	CGG		0.428	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		12	75	0	0	0	1	0	12	75				
FMN2	56776	broad.mit.edu	37	1	240370687	240370687	+	Missense_Mutation	SNP	C	C	A	rs145077825	byFrequency	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:240370687C>A	ENST00000319653.9	+	5	2805	c.2575C>A	c.(2575-2577)Cca>Aca	p.P859T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	859	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCATCTCCACCACCTCTGCC	0.572																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2575-2577)Cca>Aca		formin 2							110.0	105.0	107.0					1																	240370687		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370687C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2575C>A	1.37:g.240370687C>A	ENSP00000318884:p.Pro859Thr						p.P859T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2805	+	Ovarian(103;0.127)	all_cancers(173;0.013)	859			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2575C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	4.014	0.000018	0.07819	.	.	ENSG00000155816	ENST00000319653	T	0.59364	0.27	4.09	4.09	0.47781	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.64402	D	0.000016	T	0.41419	0.1158	L	0.34521	1.04	0.80722	D	1	B	0.29862	0.259	B	0.29524	0.103	T	0.26121	-1.0112	9	.	.	.	.	7.8989	0.29723	0.0:0.8886:0.0:0.1113	.	859	Q9NZ56	FMN2_HUMAN	T	859	ENSP00000318884:P859T	.	P	+	1	0	FMN2	238437310	0.009000	0.17119	0.997000	0.53966	0.182000	0.23217	2.308000	0.43690	2.270000	0.75569	0.555000	0.69702	CCA		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	130	1	0	4.3838e-07	1	4.58929e-07	13	130				
TGFBR2	7048	broad.mit.edu	37	3	30732963	30732963	+	Missense_Mutation	SNP	G	G	A	rs121918714		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:30732963G>A	ENST00000295754.5	+	7	1958	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCACGACCCAGAGGCCCGTCT	0.602																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1576-1578)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							70.0	65.0	66.0					3																	30732963		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732963G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1576G>A	3.37:g.30732963G>A	ENSP00000295754:p.Glu526Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551K	p.E526K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1958	+			526		E -> Q (in esophageal cancer).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1576G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	36	5.806657	0.96967	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.65178	-0.14;-0.14	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75399	-0.3331	10	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	K	526;551;356	ENSP00000295754:E526K;ENSP00000351905:E551K	ENSP00000295754:E526K	E	+	1	0	TGFBR2	30707967	1.000000	0.71417	0.956000	0.39512	0.964000	0.63967	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAG		0.602	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			9	64	0	0	0	1	0	9	64				
OR2B2	81697	broad.mit.edu	37	6	27879548	27879548	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879548G>C	ENST00000303324.2	-	1	626	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACTTGAGCAGAGCAGGGACT	0.438																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(550-552)Ctg>Gtg		olfactory receptor, family 2, subfamily B, member 2							104.0	96.0	98.0					6																	27879548		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879548G>C	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.550C>G	6.37:g.27879548G>C	ENSP00000304419:p.Leu184Val						p.L184V	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	626	-			184					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.550C>G	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252250	0.39797	.	.	ENSG00000168131	ENST00000303324	T	0.00076	8.76	4.32	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31335	U	0.007837	T	0.00109	0.0003	L	0.53561	1.675	0.09310	N	0.999995	D	0.61697	0.99	P	0.62014	0.897	T	0.08659	-1.0711	10	0.66056	D	0.02	.	7.6241	0.28202	0.2051:0.0:0.7949:0.0	.	184	Q9GZK3	OR2B2_HUMAN	V	184	ENSP00000304419:L184V	ENSP00000304419:L184V	L	-	1	2	OR2B2	27987527	0.000000	0.05858	0.899000	0.35326	0.733000	0.41908	-0.325000	0.07976	1.091000	0.41335	0.563000	0.77884	CTG		0.438	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			13	72	0	0	0	1	0	13	72				
CDR1	1038	broad.mit.edu	37	X	139866462	139866462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:139866462C>T	ENST00000370532.2	-	1	261	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	24	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAAGGTACGTCTTCCAACAAA	0.428																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(70-72)Gac>Aac		cerebellar degeneration-related protein 1, 34kDa							184.0	174.0	177.0					X																	139866462		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866462C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.70G>A	X.37:g.139866462C>T	ENSP00000359563:p.Asp24Asn						p.D24N	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	261	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	24			23 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.70G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567780	0.45798	.	.	ENSG00000184258	ENST00000370532	T	0.36878	1.23	3.32	0.424	0.16468	.	.	.	.	.	T	0.23133	0.0559	L	0.29908	0.895	0.09310	N	0.999995	P	0.41784	0.762	B	0.39379	0.298	T	0.11227	-1.0596	8	.	.	.	.	6.2871	0.21039	0.0:0.5904:0.0:0.4096	.	24	P51861	CDR1_HUMAN	N	24	ENSP00000359563:D24N	.	D	-	1	0	CDR1	139694128	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.742000	0.04850	0.095000	0.17434	-0.374000	0.07098	GAC		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		16	67	0	0	0	1	0	16	67				
ADAMTS9	56999	broad.mit.edu	37	3	64644236	64644236	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:64644236C>G	ENST00000498707.1	-	4	1253	c.911G>C	c.(910-912)aGa>aCa	p.R304T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304T|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R304I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368																																						ENST00000498707.1																			1	Substitution - Missense(1)	p.R304I(1)	urinary_tract(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(910-912)aGa>aCa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							143.0	144.0	143.0					3																	64644236		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64644236C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.911G>C	3.37:g.64644236C>G	ENSP00000418735:p.Arg304Thr					ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304T	p.R304T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	4	1253	-		Lung NSC(201;0.00682)	304			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.911G>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297142	0.40694	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	D;T;T	0.86366	-2.11;-0.02;-0.02	6.01	-1.44	0.08856	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.277613	0.40554	N	0.001062	T	0.76666	0.4019	N	0.11818	0.18	0.33857	D	0.633303	B;B;P;B	0.35684	0.262;0.38;0.515;0.254	B;B;B;B	0.41036	0.083;0.346;0.286;0.134	T	0.74645	-0.3596	10	0.72032	D	0.01	.	11.2986	0.49292	0.0:0.4628:0.0:0.5372	.	304;304;304;304	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	T	304	ENSP00000295903:R304T;ENSP00000418735:R304T;ENSP00000419217:R304T	ENSP00000295903:R304T	R	-	2	0	ADAMTS9	64619276	0.988000	0.35896	0.247000	0.24249	0.928000	0.56348	0.702000	0.25631	-0.644000	0.05465	-0.157000	0.13467	AGA		0.368	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			7	65	0	0	0	1	0	7	65				
SNW1	22938	broad.mit.edu	37	14	78202301	78202301	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:78202301G>A	ENST00000261531.7	-	7	749	c.687C>T	c.(685-687)gtC>gtT	p.V229V	SNW1_ENST00000555761.1_Silent_p.V229V|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.V67V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	229	Pro-rich.|SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGAATGCATGACAGGCGCAG	0.388																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(685-687)gtC>gtT		SNW domain containing 1							55.0	65.0	62.0					14																	78202301		2203	4300	6503	SO:0001819	synonymous_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78202301G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.687C>T	14.37:g.78202301G>A						SNW1_ENST00000554775.1_Silent_p.V67V|SNW1_ENST00000555761.1_Silent_p.V229V|SLIRP_ENST00000557431.1_Intron	p.V229V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	7	749	-			229			Pro-rich.|SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	c.687C>T	CCDS9867.1																																																																																				0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		4	15	0	0	0	1	0	4	15				
ANKRD34B	340120	broad.mit.edu	37	5	79854712	79854712	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:79854712G>C	ENST00000338682.3	-	5	1799	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGCCAGCTGAGAGCTGGGA	0.438																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(1126-1128)tCa>tGa		ankyrin repeat domain 34B							52.0	56.0	55.0					5																	79854712		2199	4299	6498	SO:0001587	stop_gained	340120					cytoplasm|nucleus		g.chr5:79854712G>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1127C>G	5.37:g.79854712G>C	ENSP00000339802:p.Ser376*						p.S376*	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1799	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	376					B2RPH1|Q68D79	Nonsense_Mutation	SNP	ENST00000338682.3	37	c.1127C>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	39	7.504824	0.98325	.	.	ENSG00000189127	ENST00000338682	.	.	.	5.95	5.95	0.96441	.	0.282421	0.25823	N	0.028065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-8.0191	18.9747	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	376	.	ENSP00000339802:S376X	S	-	2	0	ANKRD34B	79890468	1.000000	0.71417	0.118000	0.21660	0.183000	0.23260	6.393000	0.73217	2.829000	0.97493	0.655000	0.94253	TCA		0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		4	31	0	0	0	1	0	4	31				
EDRF1	26098	broad.mit.edu	37	10	127408404	127408404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:127408404G>C	ENST00000356792.4	+	1	260	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	RP11-383C5.5_ENST00000430970.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.E10Q|RP11-383C5.4_ENST00000423178.2_lincRNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGCCGGAGCCGAGGGTCCGCC	0.697																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(28-30)Gag>Cag		chromosome 10 open reading frame 137							14.0	18.0	16.0					10																	127408404		2193	4281	6474	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127408404G>C																												ENST00000356792.4:c.28G>C	10.37:g.127408404G>C	ENSP00000349244:p.Glu10Gln					C10orf137_ENST00000356792.4_Missense_Mutation_p.E10Q	p.E10Q	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			1	133	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	10					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.28G>C	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072372	0.36566	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.38240	1.15;1.15	4.42	3.48	0.39840	.	0.314863	0.25143	N	0.032820	T	0.20047	0.0482	N	0.08118	0	0.28645	N	0.906967	B;B;B	0.18310	0.027;0.027;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.17167	-1.0378	10	0.66056	D	0.02	.	11.6187	0.51104	0.0:0.1807:0.8193:0.0	.	10;10;10	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	Q	10	ENSP00000349244:E10Q;ENSP00000336727:E10Q	ENSP00000336727:E10Q	E	+	1	0	C10orf137	127398394	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	4.177000	0.58276	1.150000	0.42419	0.655000	0.94253	GAG		0.697	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			5	22	0	0	0	1	0	5	22				
OR10H2	26538	broad.mit.edu	37	19	15839605	15839605	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:15839605T>C	ENST00000305899.3	+	1	772	c.752T>C	c.(751-753)gTg>gCg	p.V251A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGGTCATTGTGCACTATGGC	0.557																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(751-753)gTg>gCg		olfactory receptor, family 10, subfamily H, member 2							214.0	156.0	176.0					19																	15839605		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839605T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.752T>C	19.37:g.15839605T>C	ENSP00000306095:p.Val251Ala						p.V251A	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	772	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		251					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.752T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.276104	0.40294	.	.	ENSG00000171942	ENST00000305899	T	0.00137	8.68	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000445	T	0.00300	0.0009	M	0.67397	2.05	0.29117	N	0.880469	P	0.45902	0.868	P	0.53760	0.734	T	0.23368	-1.0190	10	0.87932	D	0	.	9.8243	0.40903	0.0:0.0:0.0:1.0	.	251	O60403	O10H2_HUMAN	A	251	ENSP00000306095:V251A	ENSP00000306095:V251A	V	+	2	0	OR10H2	15700605	0.923000	0.31300	0.782000	0.31804	0.291000	0.27294	7.090000	0.76916	1.182000	0.42928	0.433000	0.28618	GTG		0.557	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			15	88	0	0	0	1	0	15	88				
ANKHD1	54882	broad.mit.edu	37	5	139908925	139908925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139908925C>G	ENST00000360839.2	+	29	6548	c.6394C>G	c.(6394-6396)Cga>Gga	p.R2132G	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2132G|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R515G|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R2132G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2132						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCACCTCGAGTTTCTCA	0.443																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6394-6396)Cga>Gga		ankyrin repeat and KH domain containing 1							180.0	182.0	181.0					5																	139908925		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139908925C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6394C>G	5.37:g.139908925C>G	ENSP00000354085:p.Arg2132Gly					ANKHD1_ENST00000544120.1_Missense_Mutation_p.R515G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2132G|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2132G	p.R2132G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6518	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6394C>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.115766|2.115766	0.37339|0.37339	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	T;T;T;T;T;T;T|.	0.67171|.	-0.21;-0.25;1.84;1.82;1.4;-0.25;0.74|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.081572|.	0.50627|.	D|.	0.000120|.	T|T	0.63355|0.63355	0.2504|0.2504	L|L	0.53249|0.53249	1.67|1.67	0.40235|0.40235	D|D	0.977891|0.977891	D;B;D;B;B;B|.	0.76494|.	0.998;0.067;0.999;0.007;0.006;0.078|.	D;B;D;B;B;B|.	0.83275|.	0.991;0.023;0.996;0.009;0.008;0.14|.	T|T	0.63233|0.63233	-0.6683|-0.6683	10|5	0.14252|.	T|.	0.57|.	.|.	14.0155|14.0155	0.64521|0.64521	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	515;562;515;2132;2132;2132|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	G|W	2132;2132;2132;788;567;654;515;2132;143|622;582	ENSP00000354085:R2132G;ENSP00000297183:R2132G;ENSP00000393204:R788G;ENSP00000390034:R654G;ENSP00000437687:R515G;ENSP00000432016:R2132G;ENSP00000396882:R143G|.	ENSP00000396882:R143G|.	R|S	+|+	1|2	2|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139889109|139889109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.689000|2.689000	0.46993|0.46993	1.482000|1.482000	0.48325|0.48325	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		26	136	0	0	0	1	0	26	136				
ALPP	250	broad.mit.edu	37	2	233246271	233246271	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:233246271C>T	ENST00000392027.2	+	11	1643	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	458					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGGCGAGGACGTGGCGGTGT	0.672																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1372-1374)gaC>gaT		alkaline phosphatase, placental							25.0	28.0	27.0					2																	233246271		2202	4299	6501	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246271C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1374C>T	2.37:g.233246271C>T						AC068134.8_ENST00000441266.1_RNA	p.D458D	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1643	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	458					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.1374C>T	CCDS2490.1																																																																																				0.672	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		3	26	0	0	0	1	0	3	26				
SNX31	169166	broad.mit.edu	37	8	101629873	101629873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:101629873G>C	ENST00000311812.2	-	5	557	c.407C>G	c.(406-408)tCa>tGa	p.S136*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37*|KB-1083B1.1_ENST00000521535.1_RNA|KB-1083B1.1_ENST00000521625.1_RNA	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	136					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCAGTGTCTGATGTTATAAT	0.388																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(406-408)tCa>tGa		sorting nexin 31							140.0	135.0	137.0					8																	101629873		2202	4300	6502	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101629873G>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.407C>G	8.37:g.101629873G>C	ENSP00000312368:p.Ser136*					SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37*	p.S136*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		5	557	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		136					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.407C>G	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342751	0.61073	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352;ENST00000520661	.	.	.	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.4177	15.9044	0.79412	0.0:0.0:1.0:0.0	.	.	.	.	X	136;37;70;137	.	ENSP00000312368:S136X	S	-	2	0	SNX31	101699049	1.000000	0.71417	0.989000	0.46669	0.581000	0.36288	5.008000	0.63991	2.823000	0.97156	0.650000	0.86243	TCA		0.388	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		6	40	0	0	0	1	0	6	40				
FBXL14	144699	broad.mit.edu	37	12	1702577	1702577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:1702577G>A	ENST00000339235.3	-	1	754	c.656C>T	c.(655-657)tCt>tTt	p.S219F	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	219					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GTGCTTTAGAGAAAGATCTGT	0.652																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(655-657)tCt>tTt		F-box and leucine-rich repeat protein 14							38.0	35.0	36.0					12																	1702577		2203	4300	6503	SO:0001583	missense	144699					cytoplasm		g.chr12:1702577G>A	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.656C>T	12.37:g.1702577G>A	ENSP00000344855:p.Ser219Phe					WNT5B_ENST00000537031.1_Intron	p.S219F	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	754	-	Ovarian(42;0.107)		219						Missense_Mutation	SNP	ENST00000339235.3	37	c.656C>T	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444812	0.43429	.	.	ENSG00000171823	ENST00000339235	T	0.54479	0.57	4.64	4.64	0.57946	.	0.062094	0.64402	D	0.000003	T	0.57755	0.2075	M	0.75150	2.29	0.49483	D	0.999797	P	0.50943	0.94	P	0.44990	0.466	T	0.66885	-0.5810	10	0.87932	D	0	.	14.2871	0.66254	0.0:0.0:0.8511:0.1489	.	219	Q8N1E6	FXL14_HUMAN	F	219	ENSP00000344855:S219F	ENSP00000344855:S219F	S	-	2	0	FBXL14	1572838	1.000000	0.71417	0.014000	0.15608	0.360000	0.29518	7.671000	0.83941	2.401000	0.81631	0.644000	0.83932	TCT		0.652	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		8	35	0	0	0	1	0	8	35				
OR2B2	81697	broad.mit.edu	37	6	27879379	27879379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:27879379G>A	ENST00000303324.2	-	1	795	c.719C>T	c.(718-720)aCa>aTa	p.T240I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGAGCCACATGTCCCAAATGC	0.458																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(718-720)aCa>aTa		olfactory receptor, family 2, subfamily B, member 2							129.0	115.0	120.0					6																	27879379		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879379G>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.719C>T	6.37:g.27879379G>A	ENSP00000304419:p.Thr240Ile						p.T240I	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	795	-			240					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.719C>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213769	0.79352	.	.	ENSG00000168131	ENST00000303324	T	0.42513	0.97	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001128	T	0.55673	0.1935	M	0.94142	3.5	0.38383	D	0.945183	B	0.31485	0.325	B	0.42522	0.39	T	0.67711	-0.5600	10	0.72032	D	0.01	.	15.3246	0.74150	0.0:0.0:1.0:0.0	.	240	Q9GZK3	OR2B2_HUMAN	I	240	ENSP00000304419:T240I	ENSP00000304419:T240I	T	-	2	0	OR2B2	27987358	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.020000	0.64066	2.371000	0.80710	0.563000	0.77884	ACA		0.458	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			8	55	0	0	0	1	0	8	55				
TTC14	151613	broad.mit.edu	37	3	180327971	180327971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180327971G>C	ENST00000296015.4	+	12	2086	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	652							RNA binding (GO:0003723)	p.E652Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	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)			AAAGGATATAGAGGGAAGAAA	0.393																																						ENST00000296015.4																			1	Substitution - Missense(1)	p.E652Q(1)	lung(1)	endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1954-1956)Gag>Cag		tetratricopeptide repeat domain 14							68.0	74.0	72.0					3																	180327971		2202	4298	6500	SO:0001583	missense	151613						RNA binding	g.chr3:180327971G>C	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1954G>C	3.37:g.180327971G>C	ENSP00000296015:p.Glu652Gln					TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	p.E652Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2086	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		652					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1954G>C	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841239	0.71488	.	.	ENSG00000163728	ENST00000296015	T	0.25250	1.81	6.04	6.04	0.98038	.	0.436913	0.27586	N	0.018708	T	0.40570	0.1122	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.09314	-1.0680	10	0.72032	D	0.01	-5.3659	16.7984	0.85608	0.0:0.1285:0.8715:0.0	.	652	Q96N46	TTC14_HUMAN	Q	652	ENSP00000296015:E652Q	ENSP00000296015:E652Q	E	+	1	0	TTC14	181810665	1.000000	0.71417	0.932000	0.37286	0.956000	0.61745	6.240000	0.72363	2.873000	0.98535	0.563000	0.77884	GAG		0.393	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		4	22	0	0	0	1	0	4	22				
HERC2	8924	broad.mit.edu	37	15	28447508	28447508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:28447508C>T	ENST00000261609.7	-	46	7573	c.7465G>A	c.(7465-7467)Gca>Aca	p.A2489T		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)		AAGCTGGATGCATTCCCGGAA	0.557																																						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.(7465-7467)Gca>Aca		HECT and RLD domain containing E3 ubiquitin protein ligase 2							67.0	51.0	56.0					15																	28447508		2203	4300	6503	SO:0001583	missense	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.chr15:28447508C>T	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.7465G>A	15.37:g.28447508C>T	ENSP00000261609:p.Ala2489Thr						p.A2489T	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)	46	7573	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2489						Missense_Mutation	SNP	ENST00000261609.7	37	c.7465G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294998	0.23564	.	.	ENSG00000128731	ENST00000261609	T	0.40756	1.02	3.51	3.51	0.40186	.	0.117276	0.56097	D	0.000030	T	0.38558	0.1045	L	0.49350	1.555	0.80722	D	1	B	0.16603	0.018	B	0.14578	0.011	T	0.34453	-0.9828	10	0.39692	T	0.17	.	15.6595	0.77174	0.0:1.0:0.0:0.0	.	2489	O95714	HERC2_HUMAN	T	2489	ENSP00000261609:A2489T	ENSP00000261609:A2489T	A	-	1	0	HERC2	26121103	1.000000	0.71417	0.666000	0.29783	0.173000	0.22820	2.417000	0.44653	1.973000	0.57446	0.456000	0.33151	GCA		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	55	0	0	0	1	0	4	55				
ZNF518B	85460	broad.mit.edu	37	4	10447351	10447351	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:10447351C>T	ENST00000326756.3	-	3	1040	c.602G>A	c.(601-603)aGa>aAa	p.R201K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	201					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(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATAATCATTTCTAATAGCACC	0.428																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(601-603)aGa>aAa		zinc finger protein 518B							145.0	150.0	149.0					4																	10447351		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447351C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.602G>A	4.37:g.10447351C>T	ENSP00000317614:p.Arg201Lys						p.R201K	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1040	-			201					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.602G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953564	0.92660	.	.	ENSG00000178163	ENST00000326756	T	0.29397	1.57	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.47619	0.1455	L	0.34521	1.04	0.29737	N	0.837453	D	0.76494	0.999	D	0.70227	0.968	T	0.38415	-0.9662	10	0.62326	D	0.03	-24.599	19.848	0.96722	0.0:1.0:0.0:0.0	.	201	Q9C0D4	Z518B_HUMAN	K	201	ENSP00000317614:R201K	ENSP00000317614:R201K	R	-	2	0	ZNF518B	10056449	0.296000	0.24398	0.099000	0.21106	0.994000	0.84299	4.478000	0.60230	2.937000	0.99478	0.650000	0.86243	AGA		0.428	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		12	128	0	0	0	1	0	12	128				
SLC2A12	154091	broad.mit.edu	37	6	134350659	134350659	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:134350659C>T	ENST00000275230.5	-	2	459	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	102					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CCATATCTGTCTATCAGGACC	0.498																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(304-306)Gac>Aac		solute carrier family 2 (facilitated glucose transporter), member 12							121.0	118.0	119.0					6																	134350659		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350659C>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.304G>A	6.37:g.134350659C>T	ENSP00000275230:p.Asp102Asn						p.D102N	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	459	-	Breast(56;0.214)|Colorectal(23;0.221)		102					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.304G>A	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514111	0.85389	.	.	ENSG00000146411	ENST00000275230	D	0.89681	-2.55	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.79011	2.435	0.80722	D	1	D	0.56968	0.978	D	0.65140	0.932	D	0.93555	0.6890	10	0.59425	D	0.04	-25.0678	18.6967	0.91603	0.0:1.0:0.0:0.0	.	102	Q8TD20	GTR12_HUMAN	N	102	ENSP00000275230:D102N	ENSP00000275230:D102N	D	-	1	0	SLC2A12	134392352	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.487000	0.81328	2.427000	0.82271	0.460000	0.39030	GAC		0.498	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			8	42	0	0	0	1	0	8	42				
MACF1	23499	broad.mit.edu	37	1	39797963	39797963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:39797963G>C	ENST00000372915.3	+	36	5805	c.5718G>C	c.(5716-5718)aaG>aaC	p.K1906N	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.K1938N|MACF1_ENST00000289893.4_Missense_Mutation_p.K341N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.K1901N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1906					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCCTGGAAGAAAGCAATAG	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(5701-5703)aaG>aaC		microtubule-actin crosslinking factor 1							55.0	59.0	58.0					1																	39797963		2200	4295	6495	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797963G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5718G>C	1.37:g.39797963G>C	ENSP00000362006:p.Lys1906Asn					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.K341N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.K1906N|MACF1_ENST00000567887.1_Missense_Mutation_p.K1938N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron	p.K1901N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	6480	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1906					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5703G>C		.	.	.	.	.	.	.	.	.	.	G	5.796	0.331169	0.10956	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69175	-0.38;-0.38	5.39	-3.45	0.04781	.	0.921277	0.09147	N	0.842089	T	0.47192	0.1432	L	0.33485	1.01	0.28561	N	0.911101	B	0.09022	0.002	B	0.08055	0.003	T	0.30707	-0.9969	10	0.62326	D	0.03	.	1.8953	0.03256	0.3036:0.2185:0.3676:0.1104	.	1906	Q9UPN3	MACF1_HUMAN	N	1906;341	ENSP00000362006:K1906N;ENSP00000289893:K341N	ENSP00000289893:K341N	K	+	3	2	MACF1	39570550	0.003000	0.15002	0.570000	0.28473	0.985000	0.73830	-0.099000	0.11007	-1.153000	0.02829	0.555000	0.69702	AAG		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	47	0	0	0	1	0	4	47				
SYT4	6860	broad.mit.edu	37	18	40854100	40854100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:40854100C>A	ENST00000255224.3	-	2	662	c.294G>T	c.(292-294)aaG>aaT	p.K98N	SYT4_ENST00000590752.1_Missense_Mutation_p.K80N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	98					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGATCTCTCTTTTCAAGAT	0.393																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(292-294)aaG>aaT		synaptotagmin IV							150.0	148.0	149.0					18																	40854100		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854100C>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.294G>T	18.37:g.40854100C>A	ENSP00000255224:p.Lys98Asn					SYT4_ENST00000590752.1_Missense_Mutation_p.K80N|SYT4_ENST00000586678.1_Intron	p.K98N	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	662	-			98					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.294G>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315489	0.23908	.	.	ENSG00000132872	ENST00000255224	T	0.38240	1.15	5.86	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.57536	1.79	0.54753	D	0.999983	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.08046	-1.0741	10	0.17369	T	0.5	.	10.18	0.42961	0.0:0.795:0.0:0.205	.	80;98	B4DEU3;Q9H2B2	.;SYT4_HUMAN	N	98	ENSP00000255224:K98N	ENSP00000255224:K98N	K	-	3	2	SYT4	39108098	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.286000	0.18902	0.911000	0.36747	0.650000	0.86243	AAG		0.393	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		5	39	1	0	0.27861	1	0.280003	5	39				
ESRP2	80004	broad.mit.edu	37	16	68269632	68269632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:68269632C>T	ENST00000565858.1	-	2	318	c.232G>A	c.(232-234)Gag>Aag	p.E78K	RP11-96D1.6_ENST00000564147.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.E78K	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	78					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCGGCCGCCTCGGCACGAACC	0.716																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(232-234)Gag>Aag		epithelial splicing regulatory protein 2							11.0	12.0	12.0					16																	68269632		2165	4253	6418	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68269632C>T	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.232G>A	16.37:g.68269632C>T	ENSP00000454554:p.Glu78Lys					ESRP2_ENST00000565858.1_Missense_Mutation_p.E78K	p.E78K			Q9H6T0	ESRP2_HUMAN			2	770	-			78					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.232G>A		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426893	0.43020	.	.	ENSG00000103067	ENST00000473183	T	0.45276	0.9	4.39	3.43	0.39272	.	0.423150	0.27117	N	0.020860	T	0.29945	0.0749	L	0.29908	0.895	0.32773	N	0.503483	B;B	0.29270	0.155;0.24	B;B	0.25987	0.03;0.065	T	0.44697	-0.9311	10	0.66056	D	0.02	-15.9444	10.6011	0.45367	0.0:0.8058:0.1942:0.0	.	78;78	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	K	78	ENSP00000418748:E78K	ENSP00000418748:E78K	E	-	1	0	ESRP2	66827133	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	4.051000	0.57412	1.192000	0.43071	0.561000	0.74099	GAG		0.716	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		5	28	0	0	0	1	0	5	28				
GRWD1	83743	broad.mit.edu	37	19	48953936	48953936	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:48953936C>T	ENST00000253237.5	+	5	929	c.696C>T	c.(694-696)acC>acT	p.T232T		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	232						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTGCTGACCGGTGACTGTC	0.652																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(694-696)acC>acT		glutamate-rich WD repeat containing 1							44.0	42.0	43.0					19																	48953936		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48953936C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.696C>T	19.37:g.48953936C>T							p.T232T	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	5	929	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	232					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.696C>T	CCDS12720.1																																																																																				0.652	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		10	63	0	0	0	1	0	10	63				
SOGA1	140710	broad.mit.edu	37	20	35444710	35444710	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr20:35444710C>T	ENST00000357779.3	-	5	747	c.421G>A	c.(421-423)Gag>Aag	p.E141K	SOGA1_ENST00000279034.6_Splice_Site_p.E141K|SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000237536.4_Splice_Site_p.E379K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	141					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCACTGTCCTCCTGGGACCAC	0.537																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.e5-1		suppressor of glucose, autophagy associated 1							51.0	51.0	51.0					20																	35444710		2196	4297	6493	SO:0001630	splice_region_variant	140710							g.chr20:35444710C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.421-1G>A	20.37:g.35444710C>T						SOGA1_ENST00000357779.3_Splice_Site_p.E141_splice|SOGA1_ENST00000279034.5_Splice_Site_p.E141_splice	p.E379_splice	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	1476	-			141					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Splice_Site	SNP	ENST00000357779.3	37	c.1134_splice		.	.	.	.	.	.	.	.	.	.	C	28.2	4.902207	0.92035	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000357779	T;T;T	0.37584	1.19;1.36;1.42	5.43	5.43	0.79202	.	0.166768	0.51477	D	0.000086	T	0.55016	0.1894	L	0.55481	1.735	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	T	0.44544	-0.9321	10	0.37606	T	0.19	-39.9911	18.1605	0.89706	0.0:1.0:0.0:0.0	.	141	O94964-4	.	K	379;141;141	ENSP00000237536:E379K;ENSP00000279034:E141K;ENSP00000350424:E141K	ENSP00000237536:E379K	E	-	1	0	KIAA0889	34878124	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.651000	0.83577	2.825000	0.97269	0.655000	0.94253	GAG		0.537	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	Missense_Mutation	9	51	0	0	0	1	0	9	51				
VLDLR	7436	broad.mit.edu	37	9	2643851	2643851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:2643851G>C	ENST00000382100.3	+	7	1314	c.958G>C	c.(958-960)Ggc>Cgc	p.G320R	VLDLR_ENST00000382099.2_Missense_Mutation_p.G320R|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	320	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGCTTGGGCCCTGGAAA	0.458																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(958-960)Ggc>Cgc		very low density lipoprotein receptor							143.0	144.0	144.0					9																	2643851		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643851G>C		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.958G>C	9.37:g.2643851G>C	ENSP00000371532:p.Gly320Arg					VLDLR_ENST00000382099.2_Missense_Mutation_p.G320R	p.G320R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	7	1314	+			320			LDL-receptor class A 8.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.958G>C	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549220	0.45383	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95588	-3.75;-3.75	5.24	5.24	0.73138	.	0.000000	0.53938	D	0.000048	D	0.94398	0.8198	L	0.60957	1.885	0.80722	D	1	B;B;B	0.14805	0.009;0.011;0.006	B;B;B	0.25759	0.026;0.044;0.063	D	0.91031	0.4864	10	0.35671	T	0.21	.	19.0058	0.92851	0.0:0.0:1.0:0.0	.	320;320;320	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	R	320;320;199	ENSP00000371532:G320R;ENSP00000371531:G320R	ENSP00000371524:G199R	G	+	1	0	VLDLR	2633851	1.000000	0.71417	0.960000	0.40013	0.788000	0.44548	6.427000	0.73378	2.721000	0.93114	0.655000	0.94253	GGC		0.458	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		13	78	0	0	0	1	0	13	78				
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr15:85400425G>A	ENST00000258888.5	+	6	3229	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18032	0.0		0.0	False		,,,				2504	0.0					ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3061-3063)cGa>cAa		alpha-kinase 3		A	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	58.0	60.0		3062	-7.0	0.0	15	dbSNP_132	60	0,8598		0,0,4299	no	missense	ALPK3	NM_020778.4	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1021/1908	85400425	1,13003	2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400425G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3062G>A	15.37:g.85400425G>A	ENSP00000258888:p.Arg1021Gln						p.R1021Q	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3229	+			1021					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3062G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	g	0.479	-0.880767	0.02530	2.27E-4	0.0	ENSG00000136383	ENST00000258888	T	0.57907	0.37	3.51	-7.02	0.01589	.	3.015930	0.01430	N	0.014706	T	0.20007	0.0481	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25606	-1.0127	10	0.08837	T	0.75	7.915	3.6585	0.08230	0.2533:0.2091:0.4336:0.1039	.	1021	Q96L96	ALPK3_HUMAN	Q	1021	ENSP00000258888:R1021Q	ENSP00000258888:R1021Q	R	+	2	0	ALPK3	83201429	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.567000	0.00214	-2.790000	0.00356	-1.559000	0.00887	CGA		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		10	47	0	0	0	1	0	10	47				
FYB	2533	broad.mit.edu	37	5	39202662	39202662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:39202662C>T	ENST00000351578.6	-	2	591	c.401G>A	c.(400-402)gGa>gAa	p.G134E	FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	134					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)			TGGCTTGTTTCCAGGAGGCCA	0.498																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(400-402)gGa>gAa		FYN binding protein							118.0	112.0	114.0					5																	39202662		1908	4121	6029	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.chr5:39202662C>T	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.401G>A	5.37:g.39202662C>T	ENSP00000316460:p.Gly134Glu					FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E	p.G134E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	591	-	all_lung(31;0.000343)		134					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.401G>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415078	0.25552	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188	T;T;T;T;T;T	0.56776	1.57;1.57;1.59;1.59;1.59;0.44	6.17	3.36	0.38483	.	0.466390	0.22971	N	0.053425	T	0.55433	0.1920	M	0.67953	2.075	0.38902	D	0.957334	D;B	0.61697	0.99;0.307	P;B	0.57425	0.82;0.087	T	0.62501	-0.6841	10	0.02654	T	1	-4.3797	7.3508	0.26689	0.1198:0.5875:0.2309:0.0618	.	144;134	B4DLN2;O15117	.;FYB_HUMAN	E	134;134;134;134;144;134;134	ENSP00000316460:G134E;ENSP00000426346:G134E;ENSP00000425845:G134E;ENSP00000427114:G134E;ENSP00000442840:G144E;ENSP00000426597:G134E	ENSP00000316460:G134E	G	-	2	0	FYB	39238419	0.509000	0.26163	0.348000	0.25681	0.027000	0.11550	1.114000	0.31196	0.435000	0.26365	-0.181000	0.13052	GGA		0.498	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		7	49	0	0	0	1	0	7	49				
IL22	50616	broad.mit.edu	37	12	68646582	68646582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:68646582C>T	ENST00000538666.1	-	3	284	c.214G>A	c.(214-216)Gtt>Att	p.V72I	IL22_ENST00000328087.4_Missense_Mutation_p.V72I			Q9GZX6	IL22_HUMAN	interleukin 22	72					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGAGACGAACGTCTGTGTTG	0.473																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(214-216)Gtt>Att		interleukin 22							107.0	99.0	102.0					12																	68646582		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646582C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.214G>A	12.37:g.68646582C>T	ENSP00000442424:p.Val72Ile					IL22_ENST00000328087.4_Missense_Mutation_p.V72I	p.V72I			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	3	284	-		Myeloproliferative disorder(1001;0.0255)	72						Missense_Mutation	SNP	ENST00000538666.1	37	c.214G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.218913	0.39201	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.42900	0.96;0.96	5.13	4.23	0.50019	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.335552	0.25045	N	0.033567	T	0.48786	0.1519	L	0.46157	1.445	0.27852	N	0.940705	D	0.55800	0.973	P	0.62491	0.903	T	0.36480	-0.9746	9	.	.	.	-25.5316	6.9107	0.24333	0.0:0.8388:0.0:0.1612	.	72	Q9GZX6	IL22_HUMAN	I	72	ENSP00000442424:V72I;ENSP00000329384:V72I	.	V	-	1	0	IL22	66932849	0.993000	0.37304	0.987000	0.45799	0.374000	0.29953	1.133000	0.31430	2.768000	0.95171	0.558000	0.71614	GTT		0.473	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		7	59	0	0	0	1	0	7	59				
SLC12A2	6558	broad.mit.edu	37	5	127507429	127507429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:127507429C>T	ENST00000262461.2	+	19	2983	c.2794C>T	c.(2794-2796)Caa>Taa	p.Q932*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q932*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	932					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATCTCATCTTCAAGGACAAGG	0.289																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2794-2796)Caa>Taa		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						106.0	115.0	112.0					5																	127507429		2203	4298	6501	SO:0001587	stop_gained	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127507429C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2794C>T	5.37:g.127507429C>T	ENSP00000262461:p.Gln932*					SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q932*	p.Q932*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	19	2983	+		all_cancers(142;0.0972)|Prostate(80;0.151)	932					Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	c.2794C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	37	6.397728	0.97533	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.0	5.0	0.66597	.	0.171578	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.8491	0.92220	0.0:1.0:0.0:0.0	.	.	.	.	X	932	.	ENSP00000262461:Q932X	Q	+	1	0	SLC12A2	127535328	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	5.342000	0.65970	2.765000	0.95021	0.650000	0.86243	CAA		0.289	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		4	32	0	0	0	1	0	4	32				
ASCC3	10973	broad.mit.edu	37	6	101098482	101098482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:101098482G>A	ENST00000369162.2	-	20	3528	c.3184C>T	c.(3184-3186)Caa>Taa	p.Q1062*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1062	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATAAGTTTGAAGTAAGATG	0.368																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3184-3186)Caa>Taa		activating signal cointegrator 1 complex subunit 3							139.0	143.0	142.0					6																	101098482		2203	4300	6503	SO:0001587	stop_gained	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101098482G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3184C>T	6.37:g.101098482G>A	ENSP00000358159:p.Gln1062*						p.Q1062*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	20	3528	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1062			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	c.3184C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	44	10.565723	0.99429	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	1062	.	ENSP00000358159:Q1062X	Q	-	1	0	ASCC3	101205203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.167000	0.94773	2.693000	0.91896	0.650000	0.86243	CAA		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		6	21	0	0	0	1	0	6	21				
DDX58	23586	broad.mit.edu	37	9	32472994	32472994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:32472994C>T	ENST00000379883.2	-	14	2150	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	DDX58_ENST00000542096.1_Missense_Mutation_p.G594S|DDX58_ENST00000545044.1_Missense_Mutation_p.G462S|DDX58_ENST00000379868.1_Missense_Mutation_p.G462S|DDX58_ENST00000379882.1_Missense_Mutation_p.G620S	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	665	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTTGTTTTGCCACGTCCAGTC	0.318																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1858-1860)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							93.0	93.0	93.0					9																	32472994		2202	4298	6500	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32472994C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1993G>A	9.37:g.32472994C>T	ENSP00000369213:p.Gly665Ser					DDX58_ENST00000545044.1_Missense_Mutation_p.G462S|DDX58_ENST00000379868.1_Missense_Mutation_p.G462S|DDX58_ENST00000542096.1_Missense_Mutation_p.G594S|DDX58_ENST00000379883.2_Missense_Mutation_p.G665S	p.G620S			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	13	2015	-			665			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1858G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724202	0.48728	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.10960	3.36;3.35;3.25;3.22;2.82	5.43	2.47	0.30058	Helicase, C-terminal (2);	0.325562	0.29861	N	0.011009	T	0.12646	0.0307	L	0.38531	1.155	0.37799	D	0.927632	D;P;B;P	0.54601	0.967;0.778;0.412;0.837	P;P;B;P	0.54590	0.756;0.469;0.252;0.486	T	0.27872	-1.0061	10	0.25751	T	0.34	-1.2397	5.3344	0.15949	0.3076:0.5404:0.0:0.152	.	462;620;594;665	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	S	620;665;462;594;462	ENSP00000369212:G620S;ENSP00000369213:G665S;ENSP00000369197:G462S;ENSP00000442160:G594S;ENSP00000443055:G462S	ENSP00000369197:G462S	G	-	1	0	DDX58	32462994	0.987000	0.35691	0.995000	0.50966	0.919000	0.55068	0.619000	0.24388	0.219000	0.20840	-1.301000	0.01330	GGC		0.318	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		4	25	0	0	0	1	0	4	25				
HARBI1	283254	broad.mit.edu	37	11	46637290	46637290	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:46637290C>T	ENST00000326737.3	-	2	745	c.498G>A	c.(496-498)gtG>gtA	p.V166V	ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000434074.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	166						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTTTTCGGTTCACATAGGAGA	0.517																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(496-498)gtG>gtA		harbinger transposase derived 1							184.0	189.0	187.0					11																	46637290		2201	4299	6500	SO:0001819	synonymous_variant	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637290C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.498G>A	11.37:g.46637290C>T							p.V166V	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	745	-			166					D3DQP9	Silent	SNP	ENST00000326737.3	37	c.498G>A	CCDS7920.1																																																																																				0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		31	157	0	0	0	1	0	31	157				
TMEM167A	153339	broad.mit.edu	37	5	82357701	82357701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:82357701C>T	ENST00000502346.1	-	3	315	c.143G>A	c.(142-144)aGa>aAa	p.R48K	TMEM167A_ENST00000511450.1_5'UTR|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	48						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						CTTACCAATTCTGGCACACTT	0.299																																						ENST00000502346.1																			0				large_intestine(1)|lung(1)	2						c.(142-144)aGa>aAa		transmembrane protein 167A							61.0	59.0	60.0					5																	82357701		2203	4299	6502	SO:0001583	missense	153339					Golgi membrane|integral to membrane		g.chr5:82357701C>T	BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.143G>A	5.37:g.82357701C>T	ENSP00000424707:p.Arg48Lys					TMEM167A_ENST00000511450.1_5'UTR	p.R48K	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN			3	315	-			48					Q0P692	Missense_Mutation	SNP	ENST00000502346.1	37	c.143G>A	CCDS34198.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.098749	0.76870	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	.	.	.	0.51767	D	0.999937	B	0.28584	0.216	B	0.41466	0.358	T	0.64757	-0.6332	8	0.33141	T	0.24	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	48	Q8TBQ9	KISHA_HUMAN	K	48	.	ENSP00000424707:R48K	R	-	2	0	TMEM167A	82393457	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.473000	0.73572	2.876000	0.98609	0.645000	0.84053	AGA		0.299	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909		3	13	0	0	0	1	0	3	13				
PCDHA9	9752	broad.mit.edu	37	5	140229089	140229089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140229089C>T	ENST00000532602.1	+	1	2042	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L337F|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	337	Cadherin 3. {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)			TTGTACACTTCTTGTGGAAGT	0.463																																					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.(1009-1011)Ctt>Ttt									101.0	95.0	97.0					5																	140229089		2196	4275	6471	SO:0001583	missense	9752							g.chr5:140229089C>T	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.1009C>T	5.37:g.140229089C>T	ENSP00000436042:p.Leu337Phe					PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L337F|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.L337F	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1733	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1009C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041063	0.55003	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52526	0.66;0.66	3.79	-2.25	0.06888	Cadherin (4);Cadherin-like (1);	121.322000	0.02287	U	0.069956	T	0.61689	0.2367	M	0.82823	2.61	0.09310	N	1	B;D	0.54772	0.081;0.968	B;P	0.54372	0.406;0.75	T	0.54084	-0.8346	10	0.72032	D	0.01	.	5.0417	0.14462	0.3185:0.1586:0.0:0.5229	.	337;337	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	F	337	ENSP00000436042:L337F;ENSP00000367362:L337F	ENSP00000367362:L337F	L	+	1	0	PCDHA9	140209273	0.000000	0.05858	0.003000	0.11579	0.611000	0.37282	-6.060000	0.00083	-0.386000	0.07821	0.313000	0.20887	CTT		0.463	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	69	0	0	0	1	0	9	69				
MAP3K4	4216	broad.mit.edu	37	6	161527723	161527723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:161527723G>C	ENST00000392142.4	+	20	4182	c.4034G>C	c.(4033-4035)aGa>aCa	p.R1345T	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1341T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1291T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1295T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAATGGCAAAGAGGAAACAAA	0.373																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4033-4035)aGa>aCa		mitogen-activated protein kinase kinase kinase 4							138.0	129.0	132.0					6																	161527723		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527723G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4034G>C	6.37:g.161527723G>C	ENSP00000375986:p.Arg1345Thr					MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1295T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1291T|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1341T	p.R1345T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4182	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1345			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4034G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452580	0.84209	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.61	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.31371	0.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.91635	0.999;0.998;0.993;0.997	T	0.26360	-1.0105	10	0.87932	D	0	-21.7598	17.4687	0.87639	0.0:0.0:1.0:0.0	.	1341;281;1295;1345	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	T	1295;1345;1295;1341;1291	ENSP00000355886:R1295T;ENSP00000375986:R1345T;ENSP00000355887:R1341T;ENSP00000297332:R1291T	ENSP00000297332:R1291T	R	+	2	0	MAP3K4	161447713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.105000	0.64084	0.585000	0.79938	AGA		0.373	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			3	24	0	0	0	1	0	3	24				
MTBP	27085	broad.mit.edu	37	8	121528317	121528317	+	Missense_Mutation	SNP	C	C	T	rs200198532		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:121528317C>T	ENST00000305949.1	+	18	2177	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	711	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTGTAGTTTCGTCAGATCCT	0.428																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2131-2133)tCg>tTg		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa		C	LEU/SER	0,4406		0,0,2203	110.0	104.0	106.0		2132	3.2	0.2	8		106	2,8596	2.2+/-6.3	0,2,4297	yes	missense	MTBP	NM_022045.3	145	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	711/905	121528317	2,13002	2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528317C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2132C>T	8.37:g.121528317C>T	ENSP00000303398:p.Ser711Leu						p.S711L	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2177	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		711			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2132C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.349886	0.01266	0.0	2.33E-4	ENSG00000172167	ENST00000305949	.	.	.	5.76	3.25	0.37280	.	0.207969	0.39909	N	0.001223	T	0.05227	0.0139	N	0.00092	-2.175	0.23174	N	0.998171	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	9	0.02654	T	1	-1.4819	10.0911	0.42447	0.0:0.1374:0.0:0.8626	.	711	Q96DY7	MTBP_HUMAN	L	711	.	ENSP00000303398:S711L	S	+	2	0	MTBP	121597498	0.907000	0.30839	0.159000	0.22649	0.008000	0.06430	1.341000	0.33907	0.445000	0.26639	-0.423000	0.05987	TCG		0.428	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		3	50	0	0	0	1	0	3	50				
USH1C	10083	broad.mit.edu	37	11	17544352	17544352	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:17544352T>C	ENST00000318024.4	-	12	1106	c.998A>G	c.(997-999)gAg>gGg	p.E333G	USH1C_ENST00000527020.1_Missense_Mutation_p.E314G|USH1C_ENST00000527720.1_Missense_Mutation_p.E302G|USH1C_ENST00000005226.7_Missense_Mutation_p.E333G	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	333					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTGCTGCTCCTGGAGGAT	0.677																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(997-999)gAg>gGg		Usher syndrome 1C (autosomal recessive, severe)							32.0	38.0	36.0					11																	17544352		2200	4292	6492	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17544352T>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.998A>G	11.37:g.17544352T>C	ENSP00000317018:p.Glu333Gly					USH1C_ENST00000527720.1_Missense_Mutation_p.E302G|USH1C_ENST00000527020.1_Missense_Mutation_p.E314G|USH1C_ENST00000318024.4_Missense_Mutation_p.E333G	p.E333G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			12	997	-			333					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.998A>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540134	0.85917	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.67345	1.68;1.66;1.81;-0.26	5.04	5.04	0.67666	.	0.126831	0.56097	D	0.000033	T	0.72293	0.3442	L	0.34521	1.04	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.915;0.972	T	0.73458	-0.3976	10	0.49607	T	0.09	.	12.305	0.54898	0.0:0.0:0.0:1.0	.	314;333;333	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	G	333;302;314;333	ENSP00000317018:E333G;ENSP00000432944:E302G;ENSP00000436934:E314G;ENSP00000005226:E333G	ENSP00000005226:E333G	E	-	2	0	USH1C	17500928	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.839000	0.75364	1.905000	0.55150	0.379000	0.24179	GAG		0.677	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		9	56	0	0	0	1	0	9	56				
DSP	1832	broad.mit.edu	37	6	7580249	7580249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:7580249C>T	ENST00000379802.3	+	23	4167	c.3826C>T	c.(3826-3828)Cag>Tag	p.Q1276*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1276	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAACGCCCTTCAGCAAAAGGC	0.512																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3826-3828)Cag>Tag		desmoplakin							67.0	68.0	68.0					6																	7580249		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580249C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3826C>T	6.37:g.7580249C>T	ENSP00000369129:p.Gln1276*					DSP_ENST00000418664.2_Intron	p.Q1276*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4167	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1276			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.3826C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	44	10.764469	0.99463	.	.	ENSG00000096696	ENST00000379802	.	.	.	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	18.2596	0.90030	0.0:1.0:0.0:0.0	.	.	.	.	X	1276	.	ENSP00000369129:Q1276X	Q	+	1	0	DSP	7525248	0.997000	0.39634	0.980000	0.43619	0.947000	0.59692	3.576000	0.53878	2.411000	0.81874	0.557000	0.71058	CAG		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	88	0	0	0	1	0	13	88				
TRIM33	51592	broad.mit.edu	37	1	114968304	114968304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:114968304G>A	ENST00000358465.2	-	9	1545	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TRIM33_ENST00000450349.2_Missense_Mutation_p.P96S|TRIM33_ENST00000369543.2_Missense_Mutation_p.P488S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	488					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAACATTAGGAGTATAACCA	0.373			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1462-1464)Cct>Tct		tripartite motif containing 33							137.0	125.0	129.0					1																	114968304		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968304G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1462C>T	1.37:g.114968304G>A	ENSP00000351250:p.Pro488Ser					TRIM33_ENST00000450349.2_Missense_Mutation_p.P96S|TRIM33_ENST00000369543.2_Missense_Mutation_p.P488S	p.P488S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1545	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	488					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1462C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433000	0.62844	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.78707	-0.93;-0.83;-1.2	5.23	5.23	0.72850	.	0.048776	0.85682	D	0.000000	T	0.77598	0.4154	L	0.31664	0.95	0.80722	D	1	D;P;B	0.69078	0.997;0.518;0.22	D;B;B	0.75484	0.986;0.225;0.168	T	0.73668	-0.3910	10	0.24483	T	0.36	-7.9978	19.1785	0.93612	0.0:0.0:1.0:0.0	.	96;488;488	E7EN20;Q9UPN9-2;Q9UPN9	.;.;TRI33_HUMAN	S	488;488;96	ENSP00000351250:P488S;ENSP00000358556:P488S;ENSP00000412077:P96S	ENSP00000351250:P488S	P	-	1	0	TRIM33	114769827	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.091000	0.76923	2.610000	0.88304	0.650000	0.86243	CCT		0.373	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		11	73	0	0	0	1	0	11	73				
OR5D18	219438	broad.mit.edu	37	11	55587580	55587580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:55587580G>T	ENST00000333976.4	+	1	495	c.475G>T	c.(475-477)Gaa>Taa	p.E159*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGTTCCTTGGAACTGACGTG	0.468																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(475-477)Gaa>Taa		olfactory receptor, family 5, subfamily D, member 18							199.0	186.0	190.0					11																	55587580		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587580G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.475G>T	11.37:g.55587580G>T	ENSP00000335025:p.Glu159*						p.E159*	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	495	+		all_epithelial(135;0.208)	159					Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.475G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	3.637	-0.074284	0.07184	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	-0.921	0.10472	.	0.777423	0.11051	N	0.605065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.0055	2.2672	0.04082	0.5496:0.1809:0.1581:0.1115	.	.	.	.	X	159	.	ENSP00000335025:E159X	E	+	1	0	OR5D18	55344156	0.000000	0.05858	0.051000	0.19133	0.018000	0.09664	-0.480000	0.06559	0.014000	0.14944	-1.701000	0.00721	GAA		0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	93	1	0	1.99824e-07	1	2.10286e-07	17	93				
FAT2	2196	broad.mit.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	rs377736336		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26. {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)			CTTTAGAGTCGCCACCAGTTC	0.507																																						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.(8776-8778)gCg>gTg		FAT atypical cadherin 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	152.0	147.0	149.0		8777	-2.4	0.0	5		149	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2926/4350	150921911	1,13005	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.chr5:150921911G>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.8777C>T	5.37:g.150921911G>A	ENSP00000261800:p.Ala2926Val						p.A2926V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8789	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2926			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8777C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.472	0.455265	0.12283	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.01821	4.62	6.05	-2.38	0.06622	Cadherin (3);Cadherin-like (1);	0.514050	0.19142	N	0.121670	T	0.01189	0.0039	N	0.13327	0.33	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.46331	-0.9199	10	0.10636	T	0.68	.	14.7649	0.69632	0.442:0.0:0.558:0.0	.	2926	Q9NYQ8	FAT2_HUMAN	V	2926	ENSP00000261800:A2926V	ENSP00000261800:A2926V	A	-	2	0	FAT2	150902104	0.085000	0.21516	0.004000	0.12327	0.037000	0.13140	0.445000	0.21677	-0.525000	0.06391	-2.259000	0.00280	GCG		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		13	105	0	0	0	1	0	13	105				
AGO1	26523	broad.mit.edu	37	1	36383221	36383221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:36383221C>T	ENST00000373204.4	+	16	2269	c.2056C>T	c.(2056-2058)Cgt>Tgt	p.R686C	AGO1_ENST00000373206.1_Missense_Mutation_p.R611C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	686	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACTGGCCATTCGTGATGCCTG	0.458																																						ENST00000373204.4																			0											c.(2056-2058)Cgt>Tgt		argonaute RISC catalytic component 1							215.0	199.0	204.0					1																	36383221		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36383221C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2056C>T	1.37:g.36383221C>T	ENSP00000362300:p.Arg686Cys					AGO1_ENST00000373206.1_Missense_Mutation_p.R611C	p.R686C	NM_012199.2	NP_036331.1					16	2269	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2056C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571878	0.86542	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82125	-0.0612	10	0.87932	D	0	-32.7022	20.2602	0.98440	0.0:1.0:0.0:0.0	.	686	Q9UL18	AGO1_HUMAN	C	611;686	ENSP00000362302:R611C;ENSP00000362300:R686C	ENSP00000362300:R686C	R	+	1	0	EIF2C1	36155808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.517000	0.45529	2.861000	0.98227	0.655000	0.94253	CGT		0.458	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			14	112	0	0	0	1	0	14	112				
ZC3HAV1	56829	broad.mit.edu	37	7	138764924	138764924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:138764924G>A	ENST00000242351.5	-	4	1079	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	255					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGGCTGCCCTGAAAGAACCGA	0.483																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(763-765)Cag>Tag		zinc finger CCCH-type, antiviral 1							160.0	171.0	167.0					7																	138764924		2203	4300	6503	SO:0001587	stop_gained	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764924G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.763C>T	7.37:g.138764924G>A	ENSP00000242351:p.Gln255*					ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255*	p.Q255*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1079	-			255					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Nonsense_Mutation	SNP	ENST00000242351.5	37	c.763C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	38	6.764637	0.97821	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	.	.	.	4.2	2.31	0.28768	.	1.552070	0.03776	N	0.260522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	4.3677	0.11232	0.1163:0.0:0.6577:0.226	.	.	.	.	X	255;255;255;15	.	ENSP00000242351:Q255X	Q	-	1	0	ZC3HAV1	138415464	0.002000	0.14202	0.001000	0.08648	0.067000	0.16453	1.135000	0.31454	1.057000	0.40506	0.655000	0.94253	CAG		0.483	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		12	162	0	0	0	1	0	12	162				
NACAP1	83955	broad.mit.edu	37	8	102381306	102381306	+	RNA	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:102381306G>A	ENST00000419462.1	+	0	718					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		GGTAGCAGCTGAAATTGATGA	0.483																																						ENST00000419462.1																			0																																																			83955							g.chr8:102381306G>A	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381306G>A								NR_002182.1						0	718	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.483	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		10	63	0	0	0	1	0	10	63				
ATP8A2	51761	broad.mit.edu	37	13	26535778	26535778	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:26535778G>A	ENST00000381655.2	+	34	3391	c.3249G>A	c.(3247-3249)ttG>ttA	p.L1083L	ATP8A2_ENST00000255283.8_Silent_p.L1018L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1043					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|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)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCCTGTTTGATTGAAGATG	0.468																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(3247-3249)ttG>ttA		ATPase, aminophospholipid transporter, class I, type 8A, member 2							195.0	177.0	183.0					13																	26535778		1934	4141	6075	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26535778G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3249G>A	13.37:g.26535778G>A						ATP8A2_ENST00000255283.8_Silent_p.L1018L	p.L1083L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	34	3391	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1043					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.3249G>A	CCDS41873.1																																																																																				0.468	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		9	71	0	0	0	1	0	9	71				
PSMC3IP	29893	broad.mit.edu	37	17	40725341	40725341	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:40725341C>T	ENST00000393795.3	-	6	633	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PSMC3IP_ENST00000253789.5_Silent_p.K163K|PSMC3IP_ENST00000590760.1_Silent_p.K50K|PSMC3IP_ENST00000587209.1_Silent_p.K112K	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	175	DNA binding. {ECO:0000250}.				DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCTCTTCCTCTTCCTCCACT	0.517																																						ENST00000393795.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7						c.(523-525)aaG>aaA		PSMC3 interacting protein							207.0	154.0	172.0					17																	40725341		2203	4300	6503	SO:0001819	synonymous_variant	29893				DNA recombination|meiosis	nucleus	DNA binding	g.chr17:40725341C>T	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"""Proteasome (prosome, macropain) subunits"""	17928	protein-coding gene	gene with protein product	"""TBP-1 interacting protein"""	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.525G>A	17.37:g.40725341C>T						PSMC3IP_ENST00000253789.5_Silent_p.K163K|PSMC3IP_ENST00000587209.1_Silent_p.K112K|PSMC3IP_ENST00000590760.1_Silent_p.K50K	p.K175K	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	633	-		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)	175			DNA binding (By similarity).		C5ILB7|Q14458|Q8WXG2|Q96HA2	Silent	SNP	ENST00000393795.3	37	c.525G>A	CCDS45688.1																																																																																				0.517	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		13	79	0	0	0	1	0	13	79				
CD226	10666	broad.mit.edu	37	18	67534613	67534613	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:67534613C>G	ENST00000280200.4	-	6	1133	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	CD226_ENST00000581982.1_Missense_Mutation_p.E134Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q|CD226_ENST00000582621.1_Missense_Mutation_p.E289Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	289					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCCAGGACTCTGTAAATAGA	0.333																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(865-867)Gag>Cag		CD226 molecule							272.0	262.0	265.0					18																	67534613		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67534613C>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.865G>C	18.37:g.67534613C>G	ENSP00000280200:p.Glu289Gln					CD226_ENST00000581982.1_Missense_Mutation_p.E134Q|CD226_ENST00000582621.1_Missense_Mutation_p.E289Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q	p.E289Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			6	1133	-		Esophageal squamous(42;0.129)	289					B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.865G>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168561	0.21621	.	.	ENSG00000150637	ENST00000280200	T	0.24350	1.86	4.61	1.74	0.24563	.	0.957732	0.08663	N	0.912111	T	0.19087	0.0458	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.16512	-1.0400	10	0.62326	D	0.03	.	5.8282	0.18566	0.0:0.6498:0.0:0.3502	.	289	Q15762	CD226_HUMAN	Q	289	ENSP00000280200:E289Q	ENSP00000280200:E289Q	E	-	1	0	CD226	65685593	0.001000	0.12720	0.002000	0.10522	0.022000	0.10575	-0.035000	0.12205	0.382000	0.24878	0.655000	0.94253	GAG		0.333	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		5	67	0	0	0	1	0	5	67				
AFAP1L2	84632	broad.mit.edu	37	10	116067583	116067583	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:116067583C>G	ENST00000304129.4	-	10	1082	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E404D|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.E351D			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	351					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CGAGGGACCTCTCCACAGGCT	0.527																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1051-1053)gaG>gaC		actin filament associated protein 1-like 2							98.0	96.0	97.0					10																	116067583		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116067583C>G	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1053G>C	10.37:g.116067583C>G	ENSP00000303042:p.Glu351Asp					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E404D|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E351D	p.E351D	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	10	1353	-		Colorectal(252;0.175)|Breast(234;0.231)	351					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1053G>C	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577373	0.28180	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.23950	1.88;1.88;1.88	5.3	-1.47	0.08772	.	0.357660	0.31554	N	0.007457	T	0.16128	0.0388	N	0.25144	0.715	0.38246	D	0.941453	B;B;B;B;B	0.16603	0.013;0.008;0.001;0.013;0.018	B;B;B;B;B	0.21360	0.034;0.015;0.007;0.021;0.009	T	0.09443	-1.0674	10	0.30078	T	0.28	-7.5461	14.2738	0.66167	0.0:0.3984:0.5403:0.0612	.	404;405;379;351;351	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	D	351;351;378;404	ENSP00000358276:E351D;ENSP00000303042:E351D;ENSP00000444511:E404D	ENSP00000303042:E351D	E	-	3	2	AFAP1L2	116057573	0.916000	0.31088	0.249000	0.24280	0.711000	0.40976	0.287000	0.18920	-0.634000	0.05538	0.563000	0.77884	GAG		0.527	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		4	32	0	0	0	1	0	4	32				
PLCH1	23007	broad.mit.edu	37	3	155203387	155203387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:155203387C>T	ENST00000340059.7	-	22	2755	c.2756G>A	c.(2755-2757)cGa>cAa	p.R919Q	PLCH1_ENST00000460012.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R919Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R899Q|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000334686.6_Missense_Mutation_p.R881Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	919					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTGTGCGTCGCAGAATTCT	0.473																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2641-2643)cGa>cAa		phospholipase C, eta 1							120.0	115.0	116.0					3																	155203387		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203387C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2756G>A	3.37:g.155203387C>T	ENSP00000345988:p.Arg919Gln					PLCH1_ENST00000494598.1_Missense_Mutation_p.R899Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R919Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R919Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R881Q	p.R881Q			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	2999	-			919					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2642G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432540	0.96150	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.41065	1.85;1.72;1.04;1.01;1.72;1.72	5.88	5.88	0.94601	.	0.135934	0.50627	D	0.000104	T	0.67297	0.2878	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.987	T	0.66528	-0.5901	10	0.54805	T	0.06	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	881;919;919	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	899;881;919;919;881;881	ENSP00000419100:R899Q;ENSP00000417502:R881Q;ENSP00000402759:R919Q;ENSP00000345988:R919Q;ENSP00000335469:R881Q;ENSP00000412977:R881Q	ENSP00000335469:R881Q	R	-	2	0	PLCH1	156686081	1.000000	0.71417	0.969000	0.41365	0.764000	0.43329	7.380000	0.79704	2.789000	0.95967	0.655000	0.94253	CGA		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	44	0	0	0	1	0	13	44				
RNF180	285671	broad.mit.edu	37	5	63510034	63510034	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:63510034G>T	ENST00000389100.4	+	4	953	c.881G>T	c.(880-882)aGa>aTa	p.R294I	RNF180_ENST00000296615.6_Missense_Mutation_p.R294I|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	294	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGCTGCAAAGATTTTCAGTG	0.423																																						ENST00000389100.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(880-882)aGa>aTa		ring finger protein 180							80.0	86.0	84.0					5																	63510034		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63510034G>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.881G>T	5.37:g.63510034G>T	ENSP00000373752:p.Arg294Ile					RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R294I	p.R294I	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	953	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	294			Interaction with ZIC2 (By similarity).		Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.881G>T	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033363	0.54896	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.54071	0.59	5.99	5.12	0.69794	.	0.062472	0.64402	D	0.000003	T	0.58395	0.2119	M	0.67953	2.075	0.80722	D	1	D;D	0.55605	0.972;0.96	P;P	0.49276	0.571;0.605	T	0.63967	-0.6517	10	0.87932	D	0	-3.8208	11.5854	0.50914	0.0688:0.1262:0.805:0.0	.	294;294	Q86T96;Q86T96-2	RN180_HUMAN;.	I	294	ENSP00000373752:R294I	ENSP00000296615:R294I	R	+	2	0	RNF180	63545790	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.102000	0.41796	1.530000	0.49136	0.591000	0.81541	AGA		0.423	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		6	53	1	0	2.7689e-08	1	2.9292e-08	6	53				
UBR2	23304	broad.mit.edu	37	6	42583792	42583792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr6:42583792G>C	ENST00000372899.1	+	10	1404	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Missense_Mutation_p.L382F|UBR2_ENST00000372903.2_Missense_Mutation_p.L382F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	382					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTATGGATTTGAAATACAAGA	0.333																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1144-1146)ttG>ttC		ubiquitin protein ligase E3 component n-recognin 2							201.0	194.0	196.0					6																	42583792		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42583792G>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1146G>C	6.37:g.42583792G>C	ENSP00000361990:p.Leu382Phe					UBR2_ENST00000372903.2_Missense_Mutation_p.L382F|UBR2_ENST00000372899.1_Missense_Mutation_p.L382F	p.L382F			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		10	1404	+	Colorectal(47;0.196)		382					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1146G>C	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927106	0.34002	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.72835	-0.69;0.33;0.32	5.45	3.63	0.41609	.	0.142736	0.45606	D	0.000360	T	0.41650	0.1168	L	0.56769	1.78	0.80722	D	1	B;B;B	0.18310	0.027;0.005;0.016	B;B;B	0.21151	0.033;0.008;0.012	T	0.33548	-0.9864	10	0.10111	T	0.7	-2.8667	7.3495	0.26682	0.1475:0.1444:0.7081:0.0	.	382;382;382	Q8IWV8-4;Q8IWV8;Q8IWV8-2	.;UBR2_HUMAN;.	F	382	ENSP00000361994:L382F;ENSP00000361990:L382F;ENSP00000361992:L382F	ENSP00000361990:L382F	L	+	3	2	UBR2	42691770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.569000	0.36428	0.752000	0.32923	0.655000	0.94253	TTG		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		3	42	0	0	0	1	0	3	42				
GNE	10020	broad.mit.edu	37	9	36234070	36234070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:36234070G>A	ENST00000539815.1	-	4	869	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	GNE_ENST00000377902.5_Missense_Mutation_p.R277C|GNE_ENST00000396594.3_Missense_Mutation_p.R308C|GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000539208.1_Missense_Mutation_p.R167C			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	277					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAACTGCACGAAAGTTGGGA	0.463																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	GRCh37	CM086833	GNE	M		c.(922-924)Cgt>Tgt		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							170.0	154.0	160.0					9																	36234070		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36234070G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.829C>T	9.37:g.36234070G>A	ENSP00000439155:p.Arg277Cys					GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000377902.5_Missense_Mutation_p.R277C|GNE_ENST00000539815.1_Missense_Mutation_p.R277C|GNE_ENST00000539208.1_Missense_Mutation_p.R167C	p.R308C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		5	1033	-			277					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.922C>T	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952169	0.92660	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000486079;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64;-5.64	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.998;0.999;0.999;0.999	P;P;P;P;D	0.65987	0.736;0.804;0.627;0.877;0.94	D	0.99581	1.0973	10	0.39692	T	0.17	-13.2727	17.4853	0.87685	0.0:0.0:1.0:0.0	.	167;236;308;277;277	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	C	277;308;272;277;46;249;167;277	ENSP00000367134:R277C;ENSP00000379839:R308C;ENSP00000439155:R277C;ENSP00000445117:R167C;ENSP00000414760:R277C	ENSP00000340770:R272C	R	-	1	0	GNE	36224070	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.029000	0.93718	2.723000	0.93209	0.655000	0.94253	CGT		0.463	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		14	84	0	0	0	1	0	14	84				
BMP1	649	broad.mit.edu	37	8	22051684	22051684	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:22051684G>A	ENST00000306385.5	+	10	1964	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	BMP1_ENST00000306349.8_Missense_Mutation_p.E432K|BMP1_ENST00000397816.3_Missense_Mutation_p.E432K|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.E432K	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	432	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCAGTCTACGAAGGTACTGA	0.572																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1294-1296)Gaa>Aaa		bone morphogenetic protein 1							59.0	64.0	63.0					8																	22051684		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22051684G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1294G>A	8.37:g.22051684G>A	ENSP00000305714:p.Glu432Lys					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.E432K|BMP1_ENST00000397816.3_Missense_Mutation_p.E432K|BMP1_ENST00000306349.8_Missense_Mutation_p.E432K	p.E432K	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	10	1964	+			432			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1294G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309957	0.81247	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.08	5.08	0.68730	CUB (4);	0.440509	0.16798	U	0.199115	T	0.39091	0.1065	L	0.42632	1.34	0.80722	D	1	B;D;P;P	0.55605	0.223;0.972;0.912;0.805	B;P;B;B	0.46629	0.06;0.522;0.366;0.275	T	0.17107	-1.0380	10	0.44086	T	0.13	.	16.3443	0.83117	0.0:0.0:1.0:0.0	.	432;505;432;432	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	K	432	ENSP00000305714:E432K;ENSP00000380917:E432K;ENSP00000306121:E432K;ENSP00000380915:E432K	ENSP00000306121:E432K	E	+	1	0	BMP1	22107629	1.000000	0.71417	0.983000	0.44433	0.348000	0.29142	6.655000	0.74392	2.546000	0.85860	0.561000	0.74099	GAA		0.572	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		8	60	0	0	0	1	0	8	60				
BTBD8	284697	broad.mit.edu	37	1	92568216	92568216	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:92568216C>T	ENST00000342818.3	+	3	770	c.534C>T	c.(532-534)ttC>ttT	p.F178F	BTBD8_ENST00000370382.3_Silent_p.F178F|BTBD8_ENST00000540648.1_Silent_p.F178F	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	178						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATGATGATTTCATTTCCAATG	0.323																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(532-534)ttC>ttT		BTB (POZ) domain containing 8							65.0	62.0	63.0					1																	92568216		2203	4299	6502	SO:0001819	synonymous_variant	284697					nucleus		g.chr1:92568216C>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.534C>T	1.37:g.92568216C>T						BTBD8_ENST00000342818.3_Silent_p.F178F|BTBD8_ENST00000540648.1_Silent_p.F178F	p.F178F			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	3	801	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	178					Q6V9S5	Silent	SNP	ENST00000342818.3	37	c.534C>T	CCDS737.1																																																																																				0.323	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		4	16	0	0	0	1	0	4	16				
TNPO2	30000	broad.mit.edu	37	19	12812644	12812644	+	Missense_Mutation	SNP	G	G	C	rs200768460	byFrequency	TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr19:12812644G>C	ENST00000592287.1	-	22	2541	c.2433C>G	c.(2431-2433)atC>atG	p.I811M	TNPO2_ENST00000356861.5_Missense_Mutation_p.I801M|TNPO2_ENST00000450764.2_Missense_Mutation_p.I801M|TNPO2_ENST00000425528.1_Missense_Mutation_p.I811M|TNPO2_ENST00000441499.1_Missense_Mutation_p.I801M|TNPO2_ENST00000588216.1_Missense_Mutation_p.I801M	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	811					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTGTCCCTGATGTTCCTGA	0.627																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2431-2433)atC>atG		transportin 2							71.0	77.0	75.0					19																	12812644		2186	4275	6461	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812644G>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2433C>G	19.37:g.12812644G>C	ENSP00000468434:p.Ile811Met					TNPO2_ENST00000441499.1_Missense_Mutation_p.I801M|TNPO2_ENST00000588216.1_Missense_Mutation_p.I801M|TNPO2_ENST00000356861.5_Missense_Mutation_p.I801M|TNPO2_ENST00000450764.2_Missense_Mutation_p.I801M|TNPO2_ENST00000592287.1_Missense_Mutation_p.I811M	p.I811M			O14787	TNPO2_HUMAN			23	2790	-			811					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.2433C>G	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971192	0.53614	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	T;T;T	0.53857	0.6;0.6;0.6	5.07	4.03	0.46877	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	M	0.87758	2.905	0.80722	D	1	P;P	0.44044	0.825;0.698	P;P	0.58266	0.836;0.724	T	0.72717	-0.4209	10	0.87932	D	0	-10.448	8.1848	0.31333	0.0845:0.0:0.7591:0.1564	.	965;811	Q4LE60;O14787	.;TNPO2_HUMAN	M	965;811;801;811;801	ENSP00000407182:I811M;ENSP00000389648:I801M;ENSP00000349321:I801M	ENSP00000349321:I801M	I	-	3	3	TNPO2	12673644	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.447000	0.35101	1.137000	0.42214	-0.251000	0.11542	ATC		0.627	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		7	64	0	0	0	1	0	7	64				
MYC	4609	broad.mit.edu	37	8	128750924	128750924	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:128750924C>G	ENST00000259523.6	+	2	1621	c.416C>G	c.(415-417)tCg>tGg	p.S139W	MYC_ENST00000377970.2_Missense_Mutation_p.S154W|MYC_ENST00000524013.1_Missense_Mutation_p.S153W			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	139					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AGCGGCTTCTCGGCCGCCGCC	0.622		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(460-462)tCg>tGg		v-myc avian myelocytomatosis viral oncogene homolog							37.0	42.0	40.0					8																	128750924		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750924C>G		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.416C>G	8.37:g.128750924C>G	ENSP00000259523:p.Ser139Trp		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W	p.S154W	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	971	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	139					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.461C>G		.	.	.	.	.	.	.	.	.	.	C	26.0	4.693103	0.88735	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.66	4.66	0.58398	Transcription regulator Myc, N-terminal (1);	0.116168	0.64402	D	0.000010	T	0.60919	0.2306	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68138	-0.5488	10	0.87932	D	0	-15.3553	17.0763	0.86587	0.0:1.0:0.0:0.0	.	139	P01106	MYC_HUMAN	W	139;153;154;153;120	ENSP00000259523:S139W;ENSP00000429441:S153W;ENSP00000367207:S154W;ENSP00000430235:S153W	ENSP00000259523:S139W	S	+	2	0	MYC	128820106	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.449000	0.66619	2.583000	0.87209	0.561000	0.74099	TCG		0.622	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			4	34	0	0	0	1	0	4	34				
HIBCH	26275	broad.mit.edu	37	2	191109624	191109624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:191109624C>T	ENST00000359678.5	-	11	1174	c.880G>A	c.(880-882)Gag>Aag	p.E294K	HIBCH_ENST00000392332.3_Missense_Mutation_p.E294K|HIBCH_ENST00000410045.1_Missense_Mutation_p.E71K	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	294					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTCAATTGCTCTAGGGCAAAA	0.398																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(880-882)Gag>Aag		3-hydroxyisobutyryl-CoA hydrolase							132.0	132.0	132.0					2																	191109624		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191109624C>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.880G>A	2.37:g.191109624C>T	ENSP00000352706:p.Glu294Lys					HIBCH_ENST00000410045.1_Missense_Mutation_p.E71K|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294K	p.E294K			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		11	1019	-			294					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.880G>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	7.620	0.676723	0.14841	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T	0.72725	-0.68;-0.68	5.23	5.23	0.72850	.	0.045710	0.85682	D	0.000000	T	0.39200	0.1069	N	0.02865	-0.47	0.45427	D	0.998403	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.44559	-0.9320	10	0.02654	T	1	4.0094	8.9612	0.35849	0.0:0.8991:0.0:0.1009	.	294;294	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	K	294;294;71;45;74	ENSP00000376144:E294K;ENSP00000352706:E294K	ENSP00000352706:E294K	E	-	1	0	HIBCH	190817869	0.979000	0.34478	0.946000	0.38457	0.992000	0.81027	2.384000	0.44362	2.722000	0.93159	0.650000	0.86243	GAG		0.398	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			11	39	0	0	0	1	0	11	39				
LIG3	3980	broad.mit.edu	37	17	33331362	33331362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr17:33331362G>A	ENST00000378526.4	+	20	3000	c.2867G>A	c.(2866-2868)aGa>aAa	p.R956K	RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000580569.1_5'Flank	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	956	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCCGTCTCAGACGCTACTTT	0.577								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(2866-2868)aGa>aAa	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						73.0	66.0	68.0					17																	33331362		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33331362G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2867G>A	17.37:g.33331362G>A	ENSP00000367787:p.Arg956Lys						p.R956K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			20	3000	+		Ovarian(249;0.17)	956			BRCT.		Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.2867G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951945	0.53293	.	.	ENSG00000005156	ENST00000378526	T	0.41400	1.0	5.25	3.26	0.37387	BRCT (3);	0.212076	0.45126	N	0.000393	T	0.26774	0.0655	N	0.25485	0.75	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05273	-1.0895	10	0.18276	T	0.48	-7.7259	10.2051	0.43107	0.1614:0.0:0.8386:0.0	.	956	P49916	DNLI3_HUMAN	K	956	ENSP00000367787:R956K	ENSP00000367787:R956K	R	+	2	0	LIG3	30355475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.421000	0.52742	0.889000	0.36185	0.655000	0.94253	AGA		0.577	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		6	72	0	0	0	1	0	6	72				
MYOM2	9172	broad.mit.edu	37	8	2088645	2088645	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:2088645G>A	ENST00000262113.4	+	33	3941		c.e33-1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTTTTCAAGAGATGCTAAG	0.483																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.e33-1		myomesin 2							97.0	96.0	96.0					8																	2088645		2203	4300	6503	SO:0001630	splice_region_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088645G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3801-1G>A	8.37:g.2088645G>A						MYOM2_ENST00000523438.1_Splice_Site		NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3941	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)						Q7Z3Y2	Splice_Site	SNP	ENST00000262113.4	37		CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626381	0.46840	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3675	0.90397	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOM2	2076052	1.000000	0.71417	0.998000	0.56505	0.459000	0.32528	9.258000	0.95555	2.338000	0.79540	0.655000	0.94253	.		0.483	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Intron	8	32	0	0	0	1	0	8	32				
HMBOX1	79618	broad.mit.edu	37	8	28876293	28876293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr8:28876293G>A	ENST00000397358.3	+	7	1418	c.714G>A	c.(712-714)atG>atA	p.M238I	HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I|HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	238					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M238I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CACTAAGTATGAGACCAGCCC	0.453																																						ENST00000397358.3																			1	Substitution - Missense(1)	p.M238I(1)	cervix(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(712-714)atG>atA		homeobox containing 1							110.0	108.0	109.0					8																	28876293		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28876293G>A	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.714G>A	8.37:g.28876293G>A	ENSP00000380516:p.Met238Ile					HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I	p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	7	1418	+		Ovarian(32;0.0192)	238					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.714G>A	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094828	0.76870	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99867	-7.31;-7.31;-6.3;-7.29;-7.31;-7.31	5.9	5.9	0.94986	Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	N	0.19112	0.55	0.53688	D	0.999979	P;P;P;P;P;P	0.51933	0.949;0.915;0.949;0.885;0.525;0.915	P;B;B;P;B;B	0.48189	0.57;0.217;0.389;0.57;0.38;0.217	D	0.99470	1.0945	10	0.32370	T	0.25	-9.3242	20.3268	0.98702	0.0:0.0:1.0:0.0	.	238;238;238;238;238;238	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	I	238	ENSP00000287701:M238I;ENSP00000401769:M238I;ENSP00000384261:M238I;ENSP00000430059:M238I;ENSP00000380516:M238I;ENSP00000430110:M238I	ENSP00000287701:M238I	M	+	3	0	HMBOX1	28932212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.385000	0.97223	2.794000	0.96219	0.650000	0.86243	ATG		0.453	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		3	48	0	0	0	1	0	3	48				
ALK	238	broad.mit.edu	37	2	29451853	29451853	+	Silent	SNP	A	A	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:29451853A>G	ENST00000389048.3	-	16	3618	c.2712T>C	c.(2710-2712)caT>caC	p.H904H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	904	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGGGCAGGAATGTCCTCCGG	0.607			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2710-2712)caT>caC		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						37.0	36.0	36.0					2																	29451853		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29451853A>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2712T>C	2.37:g.29451853A>G						ALK_ENST00000431873.1_Intron	p.H904H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			16	3618	-	Acute lymphoblastic leukemia(172;0.155)		904			Gly-rich.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2712T>C	CCDS33172.1																																																																																				0.607	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	27	0	0	0	1	0	3	27				
PTPRF	5792	broad.mit.edu	37	1	44075077	44075077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:44075077C>G	ENST00000359947.4	+	22	4221	c.3881C>G	c.(3880-3882)tCt>tGt	p.S1294C	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S642C|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1285C|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1294C|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1285C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1294					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)				TCTCCGTCCTCTAAGGATGAG	0.587																																						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.(3880-3882)tCt>tGt		protein tyrosine phosphatase, receptor type, F							95.0	78.0	84.0					1																	44075077		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44075077C>G	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.3881C>G	1.37:g.44075077C>G	ENSP00000353030:p.Ser1294Cys					PTPRF_ENST00000372414.3_Missense_Mutation_p.S1294C|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1285C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S642C|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1285C	p.S1294C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			22	4221	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1294					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3881C>G	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.27|12.27	1.888212|1.888212	0.33348|0.33348	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.57107	.|0.42;0.44;0.42;0.44;2.34;4.04	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|.	.|.	.|.	.|.	T|T	0.54679|0.54679	0.1873|0.1873	N|N	0.24115|0.24115	0.695|0.695	0.46298|0.46298	D|D	0.998971|0.998971	.|P;B;D;P;P	.|0.69078	.|0.89;0.396;0.997;0.867;0.661	.|B;B;P;P;B	.|0.58928	.|0.401;0.353;0.848;0.545;0.285	T|T	0.58233|0.58233	-0.7672|-0.7672	5|9	.|0.59425	.|D	.|0.04	.|.	14.4476|14.4476	0.67361|0.67361	0.0:0.8527:0.1472:0.0|0.0:0.8527:0.1472:0.0	.|.	.|939;642;860;1285;1294	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	V|C	940|1294;1285;1294;1285;642;355	.|ENSP00000353030:S1294C;ENSP00000398822:S1285C;ENSP00000361491:S1294C;ENSP00000361490:S1285C;ENSP00000387885:S642C;ENSP00000361484:S355C	.|ENSP00000353030:S1294C	L|S	+|+	1|2	2|0	PTPRF|PTPRF	43847664|43847664	0.985000|0.985000	0.35326|0.35326	0.870000|0.870000	0.34147|0.34147	0.283000|0.283000	0.27025|0.27025	3.648000|3.648000	0.54410|0.54410	2.530000|2.530000	0.85305|0.85305	0.462000|0.462000	0.41574|0.41574	CTA|TCT		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			9	20	0	0	0	1	0	9	20				
LAMC1	3915	broad.mit.edu	37	1	183079669	183079669	+	Missense_Mutation	SNP	G	G	C	rs369500325		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:183079669G>C	ENST00000258341.4	+	4	1158	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	301	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						GAACGAATTTGATAAGCTGGT	0.438																																						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.(901-903)Gat>Cat		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						162.0	157.0	159.0					1																	183079669		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.chr1:183079669G>C	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.901G>C	1.37:g.183079669G>C	ENSP00000258341:p.Asp301His						p.D301H	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			4	1158	+			301			Laminin EGF-like 1.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.901G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852694	0.51270	.	.	ENSG00000135862	ENST00000258341	T	0.61158	0.13	5.04	4.13	0.48395	EGF-like, laminin (3);	0.604578	0.18293	N	0.145678	T	0.64080	0.2566	L	0.39898	1.24	0.09310	N	0.999991	B	0.32893	0.389	P	0.50896	0.653	T	0.60439	-0.7263	10	0.45353	T	0.12	.	13.4202	0.60994	0.0768:0.0:0.9232:0.0	.	301	P11047	LAMC1_HUMAN	H	301	ENSP00000258341:D301H	ENSP00000258341:D301H	D	+	1	0	LAMC1	181346292	0.798000	0.28890	0.004000	0.12327	0.920000	0.55202	4.306000	0.59117	1.109000	0.41680	0.491000	0.48974	GAT		0.438	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		12	101	0	0	0	1	0	12	101				
ANKHD1	54882	broad.mit.edu	37	5	139909058	139909058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:139909058C>T	ENST00000360839.2	+	29	6681	c.6527C>T	c.(6526-6528)gCa>gTa	p.A2176V	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2176V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.A559V|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.A2176V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2176						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCAGCTGCAGTGCAGCTT	0.443																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6526-6528)gCa>gTa		ankyrin repeat and KH domain containing 1							131.0	133.0	132.0					5																	139909058		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139909058C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6527C>T	5.37:g.139909058C>T	ENSP00000354085:p.Ala2176Val					ANKHD1_ENST00000544120.1_Missense_Mutation_p.A559V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2176V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2176V	p.A2176V	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6651	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6527C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571104	0.28003	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	T;T;T;T;T;T;T	0.68903	-0.3;-0.36;1.77;1.81;1.41;-0.36;0.84	5.35	5.35	0.76521	.	0.371261	0.28365	N	0.015618	T	0.67720	0.2923	L	0.44542	1.39	0.32226	N	0.574645	B;B;B;B;B;P	0.46859	0.077;0.087;0.063;0.019;0.03;0.885	B;B;B;B;B;P	0.46510	0.022;0.089;0.024;0.016;0.014;0.519	T	0.74853	-0.3523	10	0.62326	D	0.03	.	19.2495	0.93917	0.0:1.0:0.0:0.0	.	559;606;559;2176;2176;2176	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	V	2176;2176;2176;832;698;559;2176;187	ENSP00000354085:A2176V;ENSP00000297183:A2176V;ENSP00000393204:A832V;ENSP00000390034:A698V;ENSP00000437687:A559V;ENSP00000432016:A2176V;ENSP00000396882:A187V	ENSP00000396882:A187V	A	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139889242	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.127000	0.77210	2.785000	0.95823	0.591000	0.81541	GCA		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		10	93	0	0	0	1	0	10	93				
CASP8	841	broad.mit.edu	37	2	202136252	202136252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:202136252C>T	ENST00000432109.2	+	4	508	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q139*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q107*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q166*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	107	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				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						CATGCTCTATCAGATTTCAGA	0.393										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.(496-498)Cag>Tag		caspase 8, apoptosis-related cysteine peptidase							124.0	124.0	124.0					2																	202136252		2203	4300	6503	SO:0001587	stop_gained	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.chr2:202136252C>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.319C>T	2.37:g.202136252C>T	ENSP00000412523:p.Gln107*	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q139*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q107*	p.Q166*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	692	+			107			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.496C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657292	0.29425	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	4.71	2.66	0.31614	.	0.964099	0.08622	N	0.918267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	12.9607	0.58455	0.3119:0.6881:0.0:0.0	.	.	.	.	X	107;107;107;107;107;139;4;107;107;107;166;107;107;107;107	.	ENSP00000264274:Q107X	Q	+	1	0	CASP8	201844497	0.923000	0.31300	0.987000	0.45799	0.013000	0.08279	0.252000	0.18278	1.127000	0.42034	0.563000	0.77884	CAG		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		12	22	0	0	0	1	0	12	22				
GRIN3A	116443	broad.mit.edu	37	9	104499919	104499919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:104499919C>T	ENST00000361820.3	-	1	943	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	115					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGGCGCCCTCCCCGGGCTTA	0.726																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(343-345)Gag>Aag		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						15.0	16.0	16.0					9																	104499919		2199	4292	6491	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499919C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.343G>A	9.37:g.104499919C>T	ENSP00000355155:p.Glu115Lys						p.E115K	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	943	-		Acute lymphoblastic leukemia(62;0.0568)	115					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.343G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	5.167	0.216447	0.09810	.	.	ENSG00000198785	ENST00000361820	T	0.10860	2.83	5.12	3.08	0.35506	.	0.402275	0.20758	N	0.086215	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.15870	0.014	T	0.31668	-0.9935	10	0.44086	T	0.13	.	10.4655	0.44604	0.0:0.7001:0.2269:0.073	.	115	Q8TCU5	NMD3A_HUMAN	K	115	ENSP00000355155:E115K	ENSP00000355155:E115K	E	-	1	0	GRIN3A	103539740	0.010000	0.17322	0.987000	0.45799	0.009000	0.06853	2.122000	0.41987	2.392000	0.81423	0.655000	0.94253	GAG		0.726	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			6	32	0	0	0	1	0	6	32				
NPR3	4883	broad.mit.edu	37	5	32724837	32724837	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:32724837G>A	ENST00000265074.8	+	2	1146	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NPR3_ENST00000415167.2_Missense_Mutation_p.R268Q|NPR3_ENST00000415685.2_Missense_Mutation_p.R52Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R52Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	268					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GACACCATCCGGAGCATCATG	0.532																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(802-804)cGg>cAg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						180.0	184.0	182.0					5																	32724837		2197	4293	6490	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724837G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.803G>A	5.37:g.32724837G>A	ENSP00000265074:p.Arg268Gln					NPR3_ENST00000415685.2_Missense_Mutation_p.R52Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R52Q|NPR3_ENST00000415167.2_Missense_Mutation_p.R268Q	p.R268Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			2	1146	+			268					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.803G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797796	0.96952	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.89840	3.065	0.51767	D	0.999939	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	0.94888	0.8045	10	0.72032	D	0.01	-20.6727	18.7103	0.91653	0.0:0.0:1.0:0.0	.	52;52;268;268	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	Q	45;52;52;268;268	ENSP00000425325:R45Q;ENSP00000388408:R52Q;ENSP00000402490:R52Q;ENSP00000265074:R268Q;ENSP00000398028:R268Q	ENSP00000265074:R268Q	R	+	2	0	NPR3	32760594	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.598000	0.90852	2.472000	0.83506	0.655000	0.94253	CGG		0.532	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		5	51	0	0	0	1	0	5	51				
CCNL2	81669	broad.mit.edu	37	1	1322615	1322615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1322615C>T	ENST00000400809.3	-	11	1564	c.1559G>A	c.(1558-1560)aGg>aAg	p.R520K	CCNL2_ENST00000408952.5_Missense_Mutation_p.R298K|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	520					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCCGCCTCACCTCCGATGCCT	0.642																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(1558-1560)aGg>aAg		cyclin L2							89.0	95.0	93.0					1																	1322615		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1322615C>T	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1559G>A	1.37:g.1322615C>T	ENSP00000383611:p.Arg520Lys					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.R298K	p.R520K	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	11	1564	-	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	520					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.1559G>A	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	c	35	5.463321	0.96257	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.53640	0.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.62723	1.935	0.44908	D	0.997925	P	0.50156	0.932	P	0.60012	0.867	T	0.62120	-0.6921	10	0.46703	T	0.11	.	18.3134	0.90208	0.0:1.0:0.0:0.0	.	520	Q96S94	CCNL2_HUMAN	K	520;347	ENSP00000383611:R520K	ENSP00000383611:R520K	R	-	2	0	CCNL2	1312478	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.552000	0.67281	2.799000	0.96334	0.650000	0.86243	AGG		0.642	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		9	81	0	0	0	1	0	9	81				
RUFY3	22902	broad.mit.edu	37	4	71660571	71660571	+	IGR	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:71660571G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.S453N|RUFY3_ENST00000381006.3_Missense_Mutation_p.S506N	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AACGACAGGAGCATCCCAGGA	0.373																																						ENST00000381006.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1516-1518)aGc>aAc		RUN and FYVE domain containing 3							129.0	134.0	132.0					4																	71660571		2203	4300	6503	SO:0001628	intergenic_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71660571G>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71660571G>A						RUFY3_ENST00000502653.1_Missense_Mutation_p.S453N	p.S506N	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		14	2096	+		all_hematologic(202;0.248)	341					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1517G>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	1.979	-0.434718	0.04669	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.08546	3.08;3.08	5.23	-4.27	0.03744	.	1.434700	0.03686	N	0.246296	T	0.03959	0.0111	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	9	0.25106	T	0.35	3.7136	0.5031	0.00583	0.3017:0.1161:0.2274:0.3548	.	506	Q7L099-3	.	N	506;453	ENSP00000370394:S506N;ENSP00000425400:S453N	ENSP00000370394:S506N	S	+	2	0	RUFY3	71879435	0.000000	0.05858	0.004000	0.12327	0.131000	0.20780	-0.584000	0.05800	-0.817000	0.04335	-0.913000	0.02753	AGC		0.373	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	30	0	0	0	1	0	4	30				
MYLK	4638	broad.mit.edu	37	3	123419831	123419831	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:123419831G>A	ENST00000475616.1	-	15	2483	c.2484C>T	c.(2482-2484)tgC>tgT	p.C828C	MYLK_ENST00000360772.3_Silent_p.C828C|MYLK_ENST00000359169.1_Silent_p.C828C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.C828C|MYLK_ENST00000346322.5_Silent_p.C759C			Q15746	MYLK_HUMAN	myosin light chain kinase	828					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGAGGTCCTCGCAGCTGGCAG	0.587																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2482-2484)tgC>tgT		myosin light chain kinase							26.0	30.0	29.0					3																	123419831		2158	4222	6380	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419831G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2484C>T	3.37:g.123419831G>A						MYLK_ENST00000360304.3_Silent_p.C828C|MYLK_ENST00000359169.1_Silent_p.C828C|MYLK_ENST00000346322.5_Silent_p.C759C|MYLK_ENST00000475616.1_Silent_p.C828C	p.C828C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	2862	-		Lung NSC(201;0.0496)	828					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2484C>T	CCDS46896.1																																																																																				0.587	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		10	59	0	0	0	1	0	10	59				
CYP26B1	56603	broad.mit.edu	37	2	72359628	72359628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr2:72359628C>T	ENST00000001146.2	-	6	1470	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	CYP26B1_ENST00000412253.1_Missense_Mutation_p.E232K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E348K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	423					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTTGTCCTCGCTCCGCGCC	0.622																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1267-1269)Gag>Aag		cytochrome P450, family 26, subfamily B, polypeptide 1							68.0	59.0	62.0					2																	72359628		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359628C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1267G>A	2.37:g.72359628C>T	ENSP00000001146:p.Glu423Lys					CYP26B1_ENST00000412253.1_Missense_Mutation_p.E232K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E348K	p.E423K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1470	-			423					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1267G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650025	0.96714	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68181	-0.31;-0.31;-0.31	5.12	5.12	0.69794	.	0.173869	0.53938	D	0.000058	T	0.65302	0.2678	N	0.16656	0.425	0.80722	D	1	P;D;D	0.61080	0.956;0.981;0.989	P;P;P	0.58210	0.727;0.835;0.832	T	0.61783	-0.6992	10	0.25106	T	0.35	-25.7465	17.6654	0.88201	0.0:1.0:0.0:0.0	.	348;406;423	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	K	423;232;348	ENSP00000001146:E423K;ENSP00000401465:E232K;ENSP00000443304:E348K	ENSP00000001146:E423K	E	-	1	0	CYP26B1	72213136	1.000000	0.71417	0.158000	0.22627	0.993000	0.82548	5.932000	0.70121	2.837000	0.97791	0.655000	0.94253	GAG		0.622	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		10	55	0	0	0	1	0	10	55				
ASL	435	broad.mit.edu	37	7	65557846	65557846	+	Missense_Mutation	SNP	G	G	A	rs139410488		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:65557846G>A	ENST00000304874.9	+	17	1444	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	ASL_ENST00000395332.3_Missense_Mutation_p.V448I|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.V428I|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000380839.4_Missense_Mutation_p.V422I	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCGCTCCAGCGTCGACTGGCA	0.672																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1342-1344)Gtc>Atc		argininosuccinate lyase	L-Arginine(DB00125)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	43.0	43.0	43.0		1342,1342,1282,1264	2.8	0.1	7	dbSNP_134	43	4,8594	3.7+/-12.6	0,4,4295	no	missense,missense,missense,missense	ASL	NM_000048.3,NM_001024943.1,NM_001024944.1,NM_001024946.1	29,29,29,29	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	benign,benign,benign,benign	448/465,448/465,428/445,422/439	65557846	4,13000	2203	4299	6502	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557846G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1342G>A	7.37:g.65557846G>A	ENSP00000307188:p.Val448Ile					ASL_ENST00000395331.3_Missense_Mutation_p.V428I|ASL_ENST00000395332.3_Missense_Mutation_p.V448I|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422I|AC068533.7_ENST00000450043.1_Intron	p.V448I	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			17	1444	+			448					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1342G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.390686	0.25118	0.0	4.65E-4	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99277	-5.67;-5.67;-5.67;-5.67	5.53	2.79	0.32731	L-Aspartase-like (1);	0.059384	0.64402	N	0.000002	D	0.98090	0.9370	M	0.76328	2.33	0.58432	D	0.999999	B;B;B	0.25904	0.137;0.058;0.055	B;B;B	0.26969	0.075;0.028;0.028	D	0.95977	0.8974	10	0.45353	T	0.12	.	10.1081	0.42546	0.2167:0.0:0.7833:0.0	.	422;428;448	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	I	448;422;448;428	ENSP00000307188:V448I;ENSP00000370219:V422I;ENSP00000378741:V448I;ENSP00000378740:V428I	ENSP00000307188:V448I	V	+	1	0	ASL	65195281	1.000000	0.71417	0.093000	0.20910	0.081000	0.17604	4.501000	0.60393	0.306000	0.22856	-0.254000	0.11334	GTC		0.672	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	66	0	0	0	1	0	5	66				
PDE2A	5138	broad.mit.edu	37	11	72296611	72296611	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:72296611G>C	ENST00000334456.5	-	15	1454	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	PDE2A_ENST00000444035.2_Silent_p.L394L|PDE2A_ENST00000544570.1_Silent_p.L396L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Silent_p.L394L|PDE2A_ENST00000376450.3_Silent_p.L147L|PDE2A_ENST00000418754.2_Silent_p.L288L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	403					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGTGGGTGAAGAGGTTCTTTG	0.592											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1207-1209)ctC>ctG		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						64.0	60.0	62.0					11																	72296611		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72296611G>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1209C>G	11.37:g.72296611G>C			OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1136	PDE2A_ENST00000376450.3_Silent_p.L147L|PDE2A_ENST00000540345.1_Silent_p.L394L|PDE2A_ENST00000444035.2_Silent_p.L394L|PDE2A_ENST00000544570.1_Silent_p.L396L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.L288L	p.L403L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		15	1454	-			403					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1209C>G	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190223	0.21954	.	.	ENSG00000186642	ENST00000538299	T	0.72282	-0.64	5.55	4.61	0.57282	.	0.437851	0.22537	N	0.058764	T	0.79684	0.4488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81519	-0.0896	7	0.72032	D	0.01	.	13.6471	0.62288	0.0:0.1541:0.8459:0.0	.	.	.	.	V	165	ENSP00000441322:L165V	ENSP00000441322:L165V	L	-	1	0	PDE2A	71974259	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.146000	0.50631	2.632000	0.89209	0.478000	0.44815	CTT		0.592	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		4	16	0	0	0	1	0	4	16				
TRDMT1	1787	broad.mit.edu	37	10	17199505	17199505	+	Silent	SNP	C	C	T	rs145913291		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:17199505C>T	ENST00000377799.3	-	8	869	c.822G>A	c.(820-822)ctG>ctA	p.L274L	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Silent_p.L250L|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Silent_p.L228L|TRDMT1_ENST00000457442.2_Silent_p.L193L|TRDMT1_ENST00000488990.1_Silent_p.L151L|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	274	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GAGCATATCGCAGCAATGACT	0.383																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(820-822)ctG>ctA		tRNA aspartic acid methyltransferase 1							112.0	105.0	107.0					10																	17199505		2203	4300	6503	SO:0001819	synonymous_variant	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17199505C>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.822G>A	10.37:g.17199505C>T						TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Silent_p.L228L|TRDMT1_ENST00000412821.3_Silent_p.L250L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Silent_p.L151L|TRDMT1_ENST00000457442.2_Silent_p.L193L|TRDMT1_ENST00000452380.2_5'UTR	p.L274L	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			8	869	-			274					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Silent	SNP	ENST00000377799.3	37	c.822G>A	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393736	0.11638	.	.	ENSG00000107614	ENST00000313936	.	.	.	5.03	3.03	0.35002	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51857	-0.8652	4	.	.	.	-4.4746	7.4965	0.27492	0.1245:0.6842:0.1208:0.0704	.	.	.	.	T	208	.	.	A	-	1	0	TRDMT1	17239511	0.981000	0.34729	0.987000	0.45799	0.640000	0.38277	0.197000	0.17197	1.230000	0.43646	0.650000	0.86243	GCG		0.383	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		3	34	0	0	0	1	0	3	34				
MARCH6	10299	broad.mit.edu	37	5	10411555	10411555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:10411555G>A	ENST00000274140.5	+	19	1934	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	MARCH6_ENST00000503788.1_Missense_Mutation_p.G496E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G553E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G299E	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	601					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTGTGGTGGGAGAAGGCCTT	0.463																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1801-1803)gGa>gAa		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							101.0	92.0	95.0					5																	10411555		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10411555G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1802G>A	5.37:g.10411555G>A	ENSP00000274140:p.Gly601Glu					MARCH6_ENST00000503788.1_Missense_Mutation_p.G496E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G553E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G299E	p.G601E	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			19	1934	+			601					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1802G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906112	0.72868	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.43	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.67397	2.05	0.80722	D	1	P;P;P;B	0.52061	0.95;0.501;0.775;0.335	P;B;B;B	0.45232	0.474;0.116;0.436;0.058	T	0.40683	-0.9550	10	0.54805	T	0.06	-12.6731	16.0356	0.80625	0.0:0.2537:0.7463:0.0	.	496;553;181;601	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	E	553;496;601;299	ENSP00000414643:G553E;ENSP00000425930:G496E;ENSP00000274140:G601E;ENSP00000424512:G299E	ENSP00000274140:G601E	G	+	2	0	MARCH6	10464555	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.908000	0.69916	0.721000	0.32231	0.563000	0.77884	GGA		0.463	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		6	48	0	0	0	1	0	6	48				
PCDHA12	56137	broad.mit.edu	37	5	140256961	140256961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:140256961G>A	ENST00000398631.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACACGCATCCTGGAT	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1903-1905)cGc>cAc									204.0	186.0	192.0					5																	140256961		2203	4299	6502	SO:0001583	missense	56137							g.chr5:140256961G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1904G>A	5.37:g.140256961G>A	ENSP00000381628:p.Arg635His					PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.R635H	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1904G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201340	0.58234	.	.	ENSG00000251664	ENST00000398631	T	0.53857	0.6	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75620	0.3874	M	0.89287	3.02	0.33060	D	0.533897	D;D	0.89917	0.998;1.0	P;D	0.63113	0.764;0.911	D	0.85377	0.1117	9	0.87932	D	0	.	17.27	0.87098	0.0:0.0:1.0:0.0	.	635;635	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	635	ENSP00000381628:R635H	ENSP00000381628:R635H	R	+	2	0	PCDHA12	140237145	0.740000	0.28207	0.383000	0.26132	0.480000	0.33159	2.521000	0.45563	2.156000	0.67533	0.561000	0.74099	CGC		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		11	83	0	0	0	1	0	11	83				
SLITRK6	84189	broad.mit.edu	37	13	86369739	86369739	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:86369739G>C	ENST00000400286.2	-	2	1503	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	302					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTTAGAATGGACGTGGTCTT	0.428																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(904-906)tCc>tGc		SLIT and NTRK-like family, member 6							171.0	157.0	162.0					13																	86369739		1946	4151	6097	SO:0001583	missense	84189					integral to membrane		g.chr13:86369739G>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.905C>G	13.37:g.86369739G>C	ENSP00000383143:p.Ser302Cys						p.S302C	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1503	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		302					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.905C>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088912	0.20390	.	.	ENSG00000184564	ENST00000400286	T	0.58506	0.33	5.95	4.16	0.48862	.	0.558993	0.19863	N	0.104378	T	0.50735	0.1633	M	0.62723	1.935	0.09310	N	1	B	0.33448	0.412	B	0.31191	0.125	T	0.48681	-0.9014	10	0.52906	T	0.07	0.001	7.7717	0.29012	0.2696:0.0:0.7304:0.0	.	302	Q9H5Y7	SLIK6_HUMAN	C	302	ENSP00000383143:S302C	ENSP00000383143:S302C	S	-	2	0	SLITRK6	85267740	0.968000	0.33430	0.008000	0.14137	0.951000	0.60555	3.397000	0.52572	0.783000	0.33636	0.650000	0.86243	TCC		0.428	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		7	46	0	0	0	1	0	7	46				
DNAJC6	9829	broad.mit.edu	37	1	65851492	65851492	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:65851492T>C	ENST00000395325.3	+	7	884	c.727T>C	c.(727-729)Ttt>Ctt	p.F243L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.F300L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.F230L|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	243	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCCAATACCCTTTTTCAACAA	0.438																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(727-729)Ttt>Ctt		DnaJ (Hsp40) homolog, subfamily C, member 6							157.0	131.0	140.0					1																	65851492		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65851492T>C	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.727T>C	1.37:g.65851492T>C	ENSP00000378735:p.Phe243Leu					DNAJC6_ENST00000263441.7_Missense_Mutation_p.F230L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.F300L|DNAJC6_ENST00000498720.1_3'UTR	p.F243L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			7	884	+			243			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.727T>C	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	T	9.514	1.106438	0.20632	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.84660	-1.88;-1.88;-1.88	4.72	4.72	0.59763	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.053123	0.85682	D	0.000000	T	0.36413	0.0966	N	0.00289	-1.7	0.38866	D	0.956591	B;B;B	0.12630	0.004;0.003;0.006	B;B;B	0.08055	0.002;0.0;0.003	T	0.47674	-0.9099	10	0.09590	T	0.72	.	14.3668	0.66810	0.0:0.0:0.0:1.0	.	300;243;230	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	L	230;243;300	ENSP00000263441:F230L;ENSP00000378735:F243L;ENSP00000360108:F300L	ENSP00000263441:F230L	F	+	1	0	DNAJC6	65624080	1.000000	0.71417	0.915000	0.36163	0.960000	0.62799	7.503000	0.81632	1.984000	0.57885	0.533000	0.62120	TTT		0.438	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			4	47	0	0	0	1	0	4	47				
TTC14	151613	broad.mit.edu	37	3	180328270	180328270	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:180328270G>A	ENST00000296015.4	+	12	2385	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	751							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	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)			AGAATTTACTGAATATATTTA	0.323																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2251-2253)ctG>ctA		tetratricopeptide repeat domain 14							38.0	45.0	43.0					3																	180328270		2195	4286	6481	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180328270G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2253G>A	3.37:g.180328270G>A						TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	p.L751L	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2385	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		751					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.2253G>A	CCDS3237.1																																																																																				0.323	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		4	25	0	0	0	1	0	4	25				
WFS1	7466	broad.mit.edu	37	4	6303712	6303712	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr4:6303712G>C	ENST00000226760.1	+	8	2360	c.2190G>C	c.(2188-2190)tgG>tgC	p.W730C	WFS1_ENST00000503569.1_Missense_Mutation_p.W730C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	730					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCGGCGACTGGATGCGCTGCC	0.642																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2188-2190)tgG>tgC		Wolfram syndrome 1 (wolframin)							30.0	25.0	26.0					4																	6303712		2202	4294	6496	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303712G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2190G>C	4.37:g.6303712G>C	ENSP00000226760:p.Trp730Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.W730C	p.W730C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2360	+			730					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2190G>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609898	0.66558	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.96913	-4.17;-4.17	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98886	1.0771	10	0.66056	D	0.02	-25.7719	18.357	0.90361	0.0:0.0:1.0:0.0	.	730	O76024	WFS1_HUMAN	C	730;730;108	ENSP00000423337:W730C;ENSP00000226760:W730C	ENSP00000226760:W730C	W	+	3	0	WFS1	6354613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.116000	0.94341	2.589000	0.87451	0.561000	0.74099	TGG		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			6	29	0	0	0	1	0	6	29				
DLG2	1740	broad.mit.edu	37	11	84027938	84027938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:84027938G>A	ENST00000398301.2	-	1	444	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.T84M|DLG2_ENST00000398309.2_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {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)				CTTGGTGCTCGTCTTGTGGGG	0.582																																						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.(250-252)aCg>aTg		discs, large homolog 2 (Drosophila)							71.0	69.0	69.0					11																	84027938		876	1990	2866	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84027938G>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.251C>T	11.37:g.84027938G>A	ENSP00000381346:p.Thr84Met					DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T84M|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron	p.T84M	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	250	-		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.251C>T		.	.	.	.	.	.	.	.	.	.	G	14.29	2.491639	0.44249	.	.	ENSG00000150672	ENST00000280241;ENST00000398301	T;T	0.43294	0.95;0.95	5.86	2.15	0.27550	.	.	.	.	.	T	0.16854	0.0405	N	0.03608	-0.345	0.22446	N	0.999095	B	0.32918	0.39	B	0.24155	0.051	T	0.13442	-1.0509	8	.	.	.	.	9.7386	0.40404	0.3579:0.0:0.6421:0.0	.	84	Q6ZSU2	.	M	84	ENSP00000280241:T84M;ENSP00000381346:T84M	.	T	-	2	0	DLG2	83705586	0.329000	0.24696	0.911000	0.35937	0.989000	0.77384	0.558000	0.23469	0.633000	0.30452	0.585000	0.79938	ACG		0.582	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		14	54	0	0	0	1	0	14	54				
JTB	10899	broad.mit.edu	37	1	153947166	153947166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:153947166C>T	ENST00000271843.4	-	5	865	c.430G>A	c.(430-432)Gag>Aag	p.E144K	JTB_ENST00000356648.1_Missense_Mutation_p.E115K|JTB_ENST00000368589.1_Missense_Mutation_p.E115K|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	144					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATATGGACTCGATTTGCTTC	0.483																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(430-432)Gag>Aag		jumping translocation breakpoint							143.0	135.0	138.0					1																	153947166		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947166C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.430G>A	1.37:g.153947166C>T	ENSP00000271843:p.Glu144Lys					JTB_ENST00000356648.1_Missense_Mutation_p.E115K|JTB_ENST00000368589.1_Missense_Mutation_p.E115K	p.E144K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	865	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		144					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.430G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940890	0.73557	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.48836	0.8	5.34	4.42	0.53409	.	0.124961	0.52532	D	0.000078	T	0.35566	0.0936	L	0.27053	0.805	0.47245	D	0.999364	D	0.76494	0.999	P	0.57548	0.823	T	0.14090	-1.0485	10	0.31617	T	0.26	-20.1534	13.1265	0.59358	0.1613:0.8387:0.0:0.0	.	144	O76095	JTB_HUMAN	K	144;115;115;115	ENSP00000271843:E144K	ENSP00000271843:E144K	E	-	1	0	JTB	152213790	1.000000	0.71417	0.987000	0.45799	0.456000	0.32438	5.634000	0.67833	1.456000	0.47831	-0.181000	0.13052	GAG		0.483	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		13	92	0	0	0	1	0	13	92				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	23	0	0	0	1	0	5	23				
OR13C8	138802	broad.mit.edu	37	9	107331475	107331475	+	Silent	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:107331475G>C	ENST00000335040.1	+	1	27	c.27G>C	c.(25-27)tcG>tcC	p.S9S		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATTCCACGTCGACAGAATTTT	0.418																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(25-27)tcG>tcC		olfactory receptor, family 13, subfamily C, member 8							114.0	116.0	116.0					9																	107331475		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331475G>C		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.27G>C	9.37:g.107331475G>C							p.S9S	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	27	+			9					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.27G>C	CCDS35090.1																																																																																				0.418	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			11	71	0	0	0	1	0	11	71				
TDRD3	81550	broad.mit.edu	37	13	61059979	61059979	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr13:61059979G>A	ENST00000196169.3	+	7	1123	c.335G>A	c.(334-336)aGa>aAa	p.R112K	TDRD3_ENST00000377881.2_Missense_Mutation_p.R112K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R112K|TDRD3_ENST00000535286.1_Missense_Mutation_p.R205K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	112					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTGATCGAAGAAAAACATTG	0.363																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(334-336)aGa>aAa		tudor domain containing 3							114.0	101.0	105.0					13																	61059979		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61059979G>A	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.335G>A	13.37:g.61059979G>A	ENSP00000196169:p.Arg112Lys					TDRD3_ENST00000535286.1_Missense_Mutation_p.R205K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R112K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R112K	p.R112K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	7	1123	+		Prostate(109;0.173)|Breast(118;0.174)	112					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.335G>A	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106990	0.77096	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92681	0.7674	L	0.29908	0.895	0.58432	D	0.999997	P;P;P	0.50819	0.939;0.918;0.816	P;P;B	0.56343	0.796;0.712;0.376	D	0.89318	0.3638	10	0.09843	T	0.71	-9.2857	19.5087	0.95132	0.0:0.0:1.0:0.0	.	205;111;112	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	112;112;112;205;112	ENSP00000196169:R112K;ENSP00000367113:R112K;ENSP00000367126:R112K;ENSP00000440190:R205K	ENSP00000196169:R112K	R	+	2	0	TDRD3	59957980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.395000	0.97266	2.610000	0.88304	0.655000	0.94253	AGA		0.363	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		3	11	0	0	0	1	0	3	11				
OSBPL1A	114876	broad.mit.edu	37	18	21747360	21747360	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr18:21747360C>T	ENST00000319481.3	-	25	2674	c.2468G>A	c.(2467-2469)aGt>aAt	p.S823N	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S441N|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S310N	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	823					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATGAATACACTTTCAGAATC	0.458																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2467-2469)aGt>aAt		oxysterol binding protein-like 1A							97.0	104.0	101.0					18																	21747360		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21747360C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2468G>A	18.37:g.21747360C>T	ENSP00000320291:p.Ser823Asn					OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S310N|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S441N	p.S823N	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			25	2674	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		823					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2468G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799654	0.31869	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.44881	0.91;0.93;0.92	6.02	6.02	0.97574	.	0.162693	0.64402	D	0.000003	T	0.41282	0.1152	L	0.31476	0.935	0.80722	D	1	P	0.36354	0.549	B	0.41036	0.346	T	0.09207	-1.0685	10	0.35671	T	0.21	-24.2661	20.5195	0.99215	0.0:1.0:0.0:0.0	.	823	Q9BXW6	OSBL1_HUMAN	N	823;310;441	ENSP00000320291:S823N;ENSP00000382372:S310N;ENSP00000349545:S441N	ENSP00000320291:S823N	S	-	2	0	OSBPL1A	20001358	1.000000	0.71417	0.779000	0.31741	0.378000	0.30076	5.265000	0.65519	2.855000	0.98099	0.655000	0.94253	AGT		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		9	62	0	0	0	1	0	9	62				
FAF1	11124	broad.mit.edu	37	1	51050456	51050456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:51050456C>T	ENST00000396153.2	-	10	1319	c.868G>A	c.(868-870)Gat>Aat	p.D290N	FAF1_ENST00000545823.1_Missense_Mutation_p.D48N|FAF1_ENST00000371778.4_Missense_Mutation_p.D290N|FAF1_ENST00000472808.1_5'UTR|RNU6-1026P_ENST00000384465.1_RNA	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	290					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCATCGCTATCACTAACCATA	0.363																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(868-870)Gat>Aat		Fas (TNFRSF6) associated factor 1							167.0	158.0	161.0					1																	51050456		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51050456C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.868G>A	1.37:g.51050456C>T	ENSP00000379457:p.Asp290Asn					FAF1_ENST00000371778.4_Missense_Mutation_p.D290N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.D48N	p.D290N	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	10	1319	-			290					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.868G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019743	0.93462	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823	T;T	0.28895	1.59;1.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.77004	0.989;0.815	T	0.42749	-0.9433	10	0.38643	T	0.18	-23.9202	19.7505	0.96267	0.0:1.0:0.0:0.0	.	48;290	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	N	290;290;48	ENSP00000379457:D290N;ENSP00000360843:D290N	ENSP00000360843:D290N	D	-	1	0	FAF1	50823044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.362000	0.79507	2.731000	0.93534	0.655000	0.94253	GAT		0.363	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		5	24	0	0	0	1	0	5	24				
ABCB4	5244	broad.mit.edu	37	7	87072993	87072993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:87072993G>A	ENST00000265723.4	-	11	1327	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R406*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	406	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACGTTAGCTCGAGAAGGGTAA	0.333																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1216-1218)Cga>Tga		ATP-binding cassette, sub-family B (MDR/TAP), member 4							133.0	127.0	129.0					7																	87072993		2203	4300	6503	SO:0001587	stop_gained	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072993G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1216C>T	7.37:g.87072993G>A	ENSP00000265723:p.Arg406*					ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R406*	p.R406*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			11	1327	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		406			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	ENST00000265723.4	37	c.1216C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	g	37	6.155192	0.97329	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.	.	.	5.47	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1306	13.6415	0.62253	0.0:0.0:0.4821:0.5179	.	.	.	.	X	406	.	ENSP00000265723:R406X	R	-	1	2	ABCB4	86910929	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.697000	0.37784	1.247000	0.43917	0.591000	0.81541	CGA		0.333	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	18	0	0	0	1	0	3	18				
GAPDH	2597	broad.mit.edu	37	12	6646891	6646891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:6646891G>A	ENST00000229239.5	+	8	1333	c.667G>A	c.(667-669)Gag>Aag	p.E223K	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396856.1_Missense_Mutation_p.E148K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396861.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396858.1_Missense_Mutation_p.E181K	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	223					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						GGTCATCCCTGAGCTGAACGG	0.607											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(667-669)Gag>Aag		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						30.0	28.0	29.0					12																	6646891		2202	4300	6502	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646891G>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.667G>A	12.37:g.6646891G>A	ENSP00000229239:p.Glu223Lys		OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	GAPDH_ENST00000396861.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396858.1_Missense_Mutation_p.E181K|GAPDH_ENST00000396856.1_Missense_Mutation_p.E148K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E223K	p.E223K	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			8	1333	+			223					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.667G>A	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407411	0.83230	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.77	4.77	0.60923	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	H	0.95187	3.635	0.48185	D	0.9996	B;B;B;B;B	0.26708	0.036;0.036;0.036;0.157;0.016	B;B;B;B;B	0.36808	0.026;0.026;0.026;0.233;0.052	T	0.75190	-0.3405	10	0.62326	D	0.03	.	17.8775	0.88829	0.0:0.0:1.0:0.0	.	181;198;223;148;223	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	K	223;148;223;223;181	ENSP00000229239:E223K;ENSP00000380065:E148K;ENSP00000380070:E223K;ENSP00000380068:E223K;ENSP00000380067:E181K	ENSP00000229239:E223K	E	+	1	0	GAPDH	6517152	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	9.687000	0.98667	2.221000	0.72209	0.505000	0.49811	GAG		0.607	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		7	44	0	0	0	1	0	7	44				
CHID1	66005	broad.mit.edu	37	11	870490	870490	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870490C>T	ENST00000449825.1	-	11	1325	c.969G>A	c.(967-969)caG>caA	p.Q323Q	CHID1_ENST00000528581.1_Silent_p.Q348Q|CHID1_ENST00000526714.1_Splice_Site|CHID1_ENST00000429789.2_Silent_p.Q292Q|CHID1_ENST00000336845.5_Silent_p.Q348Q|CHID1_ENST00000323578.8_Silent_p.Q323Q|CHID1_ENST00000436108.2_Silent_p.Q323Q|CHID1_ENST00000454838.2_Silent_p.Q348Q|CHID1_ENST00000323541.7_Silent_p.Q353Q	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	323					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTCAGTGTCTGGATGTACC	0.607																																					Pancreas(117;992 2327 5172 41921)	ENST00000526714.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.e9-1		chitinase domain containing 1							77.0	66.0	69.0					11																	870490		2201	4297	6498	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:870490C>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.969G>A	11.37:g.870490C>T						CHID1_ENST00000454838.2_Silent_p.Q348Q|CHID1_ENST00000449825.1_Silent_p.Q323Q|CHID1_ENST00000323578.8_Silent_p.Q323Q|CHID1_ENST00000528581.1_Silent_p.Q348Q|CHID1_ENST00000429789.2_Silent_p.Q292Q|CHID1_ENST00000323541.7_Silent_p.Q353Q|CHID1_ENST00000336845.5_Silent_p.Q348Q|CHID1_ENST00000436108.2_Silent_p.Q323Q				Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	9	905	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Splice_Site	SNP	ENST00000449825.1	37		CCDS7722.1	.	.	.	.	.	.	.	.	.	.	c	7.211	0.595478	0.13875	.	.	ENSG00000177830	ENST00000529539	.	.	.	3.98	3.03	0.35002	.	.	.	.	.	T	0.56877	0.2015	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53844	-0.8381	4	.	.	.	-30.7208	8.0941	0.30818	0.0:0.8742:0.0:0.1258	.	.	.	.	N	38	.	.	D	-	1	0	CHID1	860490	0.010000	0.17322	0.902000	0.35471	0.240000	0.25518	0.002000	0.13061	1.931000	0.55961	0.457000	0.33378	GAC		0.607	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	10	0	0	0	1	0	4	10				
TMPRSS3	64699	broad.mit.edu	37	21	43803206	43803206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr21:43803206G>A	ENST00000291532.3	-	8	1673	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.H324Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.H238Y|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.H240Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	240	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCGCACAGGTGGTAGCCCTGG	0.587																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(718-720)Cac>Tac		transmembrane protease, serine 3							84.0	70.0	75.0					21																	43803206		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43803206G>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.718C>T	21.37:g.43803206G>A	ENSP00000291532:p.His240Tyr					TMPRSS3_ENST00000380399.1_Missense_Mutation_p.H324Y|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.H238Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000474596.1_5'UTR	p.H240Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			8	1673	-			240			Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.718C>T	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913029	0.72983	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	T;D;D;T;D	0.82167	0.1;-1.58;-1.58;0.1;-1.58	5.5	5.5	0.81552	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	L	0.39692	1.235	0.80722	D	1	D;P;D	0.65815	0.984;0.89;0.995	P;P;D	0.67382	0.785;0.495;0.951	D	0.85771	0.1355	9	.	.	.	.	19.3734	0.94500	0.0:0.0:1.0:0.0	.	240;240;240	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Y	240;240;238;324;240	ENSP00000291532:H240Y;ENSP00000411013:H240Y;ENSP00000381442:H238Y;ENSP00000369762:H324Y;ENSP00000381434:H240Y	.	H	-	1	0	TMPRSS3	42676275	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.918000	0.92759	2.576000	0.86940	0.591000	0.81541	CAC		0.587	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			8	43	0	0	0	1	0	8	43				
LINC00461	645323	broad.mit.edu	37	5	87962731	87962731	+	lincRNA	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr5:87962731G>C	ENST00000384838.1	-	0	26					NR_030741.1				long intergenic non-protein coding RNA 461																		CATACAGCTAGATAACCAAAG	0.483																																						ENST00000384838.1																			0																				51.0	47.0	48.0					5																	87962731		1568	3582	5150			645323							g.chr5:87962731G>C			5q14.3	2014-01-14			ENSG00000245526	ENSG00000245526		"""Long non-coding RNAs"""	42810	non-coding RNA	RNA, long non-coding							Standard	NR_015436		Approved	EyeLinc1, Visc-1a, Visc-1b	uc003kjg.3		OTTHUMG00000162632		5.37:g.87962731G>C								NR_030741.1						0	26	-									RNA	SNP	ENST00000384838.1	37																																																																																						0.483	LINC00461-201	KNOWN	basic	miRNA	lincRNA				3	1	0	0	0	1	0	3	1				
GOLGA2	2801	broad.mit.edu	37	9	131021583	131021583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:131021583G>A	ENST00000421699.2	-	19	1891	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q615*|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	627					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCTGCTGATAGGCGGCC	0.587																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1879-1881)Cag>Tag		golgin A2							18.0	17.0	18.0					9																	131021583		2202	4300	6502	SO:0001587	stop_gained	2801					Golgi cisterna membrane	protein binding	g.chr9:131021583G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1879C>T	9.37:g.131021583G>A	ENSP00000416097:p.Gln627*						p.Q627*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			19	1891	-			627					Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	ENST00000421699.2	37	c.1879C>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	14.96	2.690645	0.48097	.	.	ENSG00000167110	ENST00000421699	.	.	.	2.94	0.891	0.19224	.	0.054438	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	8.6009	0.33745	0.0:0.4986:0.5014:0.0	.	.	.	.	X	627	.	ENSP00000416097:Q627X	Q	-	1	0	GOLGA2	130061404	0.964000	0.33143	0.051000	0.19133	0.017000	0.09413	3.083000	0.50136	0.213000	0.20722	0.561000	0.74099	CAG		0.587	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		3	25	0	0	0	1	0	3	25				
NYAP1	222950	broad.mit.edu	37	7	100086246	100086246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:100086246G>A	ENST00000300179.2	+	4	1061	c.902G>A	c.(901-903)cGc>cAc	p.R301H	NYAP1_ENST00000454988.1_Missense_Mutation_p.R244H|NYAP1_ENST00000423930.1_Missense_Mutation_p.R301H	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	301	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CATGCCCACCGCCGCCCAGCT	0.692																																						ENST00000423930.1																			0											c.(901-903)cGc>cAc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							46.0	49.0	48.0					7																	100086246		2203	4296	6499	SO:0001583	missense	222950							g.chr7:100086246G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.902G>A	7.37:g.100086246G>A	ENSP00000300179:p.Arg301His					NYAP1_ENST00000300179.2_Missense_Mutation_p.R301H|NYAP1_ENST00000454988.1_Missense_Mutation_p.R244H	p.R301H			Q6ZVC0	CG051_HUMAN			4	1061	+			301			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.902G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	7.182	0.589872	0.13812	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.32988	1.43;1.43;1.45	4.9	4.02	0.46733	.	0.133388	0.34802	N	0.003671	T	0.21921	0.0528	L	0.34521	1.04	0.43719	D	0.996195	P;P	0.40834	0.68;0.73	B;B	0.38500	0.214;0.275	T	0.02371	-1.1169	10	0.33940	T	0.23	-13.797	9.197	0.37235	0.1022:0.0:0.8978:0.0	.	244;301	C9JS30;Q6ZVC0	.;CG051_HUMAN	H	301;301;244	ENSP00000300179:R301H;ENSP00000411861:R301H;ENSP00000394424:R244H	ENSP00000300179:R301H	R	+	2	0	C7orf51	99924182	0.929000	0.31497	0.990000	0.47175	0.190000	0.23558	1.581000	0.36558	1.055000	0.40461	0.407000	0.27541	CGC		0.692	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		11	88	0	0	0	1	0	11	88				
VPS4A	27183	broad.mit.edu	37	16	69353412	69353412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:69353412G>T	ENST00000254950.11	+	6	742	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.D220Y	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GTCCTCCTCAGATCTGATGTC	0.602																																						ENST00000254950.11																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7						c.(586-588)Gat>Tat		vacuolar protein sorting 4 homolog A (S. cerevisiae)							41.0	44.0	43.0					16																	69353412		2051	4211	6262	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69353412G>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.586G>T	16.37:g.69353412G>T	ENSP00000254950:p.Asp196Tyr					RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.D220Y|VPS4A_ENST00000569775.1_Intron	p.D196Y	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN			6	742	+		Ovarian(137;0.101)	196						Missense_Mutation	SNP	ENST00000254950.11	37	c.586G>T	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022461	0.93462	.	.	ENSG00000132612	ENST00000254950	D	0.95853	-3.83	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.97767	1.0224	10	0.87932	D	0	-41.734	20.2159	0.98296	0.0:0.0:1.0:0.0	.	196	Q9UN37	VPS4A_HUMAN	Y	196	ENSP00000254950:D196Y	ENSP00000254950:D196Y	D	+	1	0	VPS4A	67910913	1.000000	0.71417	0.848000	0.33437	0.974000	0.67602	9.858000	0.99539	2.882000	0.98803	0.655000	0.94253	GAT		0.602	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		6	35	1	0	3.59834e-05	1	3.72817e-05	6	35				
SUPT16H	11198	broad.mit.edu	37	14	21822620	21822620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr14:21822620C>G	ENST00000216297.2	-	23	3078	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	914					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGAAGCCCTCAGGGTCATCA	0.488																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2740-2742)Gag>Cag		suppressor of Ty 16 homolog (S. cerevisiae)							133.0	105.0	115.0					14																	21822620		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822620C>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2740G>C	14.37:g.21822620C>G	ENSP00000216297:p.Glu914Gln						p.E914Q	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	23	3078	-	all_cancers(95;0.00115)		914					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2740G>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837486	0.91117	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	L	0.46885	1.475	0.80722	D	1	P	0.49961	0.93	B	0.41036	0.346	T	0.50931	-0.8769	9	0.27785	T	0.31	-20.3233	18.8056	0.92035	0.0:1.0:0.0:0.0	.	914	Q9Y5B9	SP16H_HUMAN	Q	914	.	ENSP00000216297:E914Q	E	-	1	0	SUPT16H	20892460	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.958000	0.76025	2.739000	0.93911	0.644000	0.83932	GAG		0.488	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			7	42	0	0	0	1	0	7	42				
CHID1	66005	broad.mit.edu	37	11	870480	870480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:870480C>T	ENST00000449825.1	-	11	1335	c.979G>A	c.(979-981)Gac>Aac	p.D327N	CHID1_ENST00000528581.1_Missense_Mutation_p.D352N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000429789.2_Missense_Mutation_p.D296N|CHID1_ENST00000336845.5_Missense_Mutation_p.D352N|CHID1_ENST00000323578.8_Missense_Mutation_p.D327N|CHID1_ENST00000436108.2_Missense_Mutation_p.D327N|CHID1_ENST00000454838.2_Missense_Mutation_p.D352N|CHID1_ENST00000323541.7_Missense_Mutation_p.D357N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	327					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GGCCTGTGGTCCTTCAGTGTC	0.597																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(979-981)Gac>Aac		chitinase domain containing 1							77.0	65.0	69.0					11																	870480		2202	4296	6498	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:870480C>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.979G>A	11.37:g.870480C>T	ENSP00000391255:p.Asp327Asn					CHID1_ENST00000454838.2_Missense_Mutation_p.D352N|CHID1_ENST00000323578.8_Missense_Mutation_p.D327N|CHID1_ENST00000528581.1_Missense_Mutation_p.D352N|CHID1_ENST00000429789.2_Missense_Mutation_p.D296N|CHID1_ENST00000323541.7_Missense_Mutation_p.D357N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.D352N|CHID1_ENST00000436108.2_Missense_Mutation_p.D327N	p.D327N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	11	1335	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	327					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.979G>A	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.302|9.302	1.053230|1.053230	0.19907|0.19907	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108|ENST00000529539	T;T;T;T;T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01|.	3.99|3.99	2.98|2.98	0.34508|0.34508	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.363801|.	0.29544|.	N|.	0.011842|.	T|T	0.32285|0.32285	0.0824|0.0824	N|N	0.25647|0.25647	0.755|0.755	0.29358|0.29358	N|N	0.864888|0.864888	B;B;B;B;B|.	0.17465|.	0.012;0.004;0.022;0.01;0.004|.	B;B;B;B;B|.	0.12837|.	0.008;0.008;0.008;0.005;0.005|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.23302|.	T|.	0.38|.	-12.4064|-12.4064	8.9923|8.9923	0.36030|0.36030	0.0:0.7721:0.2279:0.0|0.0:0.7721:0.2279:0.0	.|.	388;357;296;352;327|.	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9|.	.;.;.;.;CHID1_HUMAN|.	N|E	357;327;352;327;296;352;352;327|41	ENSP00000324821:D357N;ENSP00000391255:D327N;ENSP00000398722:D352N;ENSP00000325055:D327N;ENSP00000416034:D296N;ENSP00000435503:D352N;ENSP00000338838:D352N;ENSP00000388156:D327N|.	ENSP00000324821:D357N|.	D|G	-|-	1|2	0|0	CHID1|CHID1	860480|860480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.723000|0.723000	0.41478|0.41478	1.789000|1.789000	0.38724|0.38724	1.935000|1.935000	0.56089|0.56089	0.462000|0.462000	0.41574|0.41574	GAC|GGA		0.597	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	10	0	0	0	1	0	4	10				
HECTD4	283450	broad.mit.edu	37	12	112650328	112650328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr12:112650328G>A	ENST00000430131.2	-	48	7471	c.6326C>T	c.(6325-6327)tCt>tTt	p.S2109F	HECTD4_ENST00000550722.1_Missense_Mutation_p.S2385F|HECTD4_ENST00000377560.5_Missense_Mutation_p.S2359F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2109					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CATGCCACCAGAGACGTCTTC	0.527																																						ENST00000550722.1																			0											c.(7153-7155)tCt>tTt		HECT domain containing E3 ubiquitin protein ligase 4							134.0	132.0	132.0					12																	112650328		1983	4178	6161	SO:0001583	missense	283450							g.chr12:112650328G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6326C>T	12.37:g.112650328G>A	ENSP00000404379:p.Ser2109Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.S2109F|HECTD4_ENST00000377560.5_Missense_Mutation_p.S2359F	p.S2385F	NM_001109662.3	NP_001103132.3					49	7549	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7154C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.061657	0.76187	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56941	0.43;0.44;0.43	5.92	5.92	0.95590	.	.	.	.	.	T	0.49064	0.1535	N	0.19112	0.55	0.58432	D	0.999999	P	0.41041	0.736	P	0.44477	0.451	T	0.52939	-0.8508	9	0.87932	D	0	.	20.3325	0.98724	0.0:0.0:1.0:0.0	.	2109	Q9Y4D8	K0614_HUMAN	F	2359;2109;2385	ENSP00000366783:S2359F;ENSP00000404379:S2109F;ENSP00000449784:S2385F	ENSP00000366783:S2359F	S	-	2	0	C12orf51	111134711	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.805000	0.96524	0.655000	0.94253	TCT		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	82	0	0	0	1	0	12	82				
FREM1	158326	broad.mit.edu	37	9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr9:14824903C>T	ENST00000380880.3	-	11	2752	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	FREM1_ENST00000380881.4_Missense_Mutation_p.E658K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					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)		TAGGCCACCTCAGTTTCCTTG	0.408																																						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.(1972-1974)Gag>Aag		FRAS1 related extracellular matrix 1							88.0	82.0	84.0					9																	14824903		1830	4081	5911	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824903C>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.1969G>A	9.37:g.14824903C>T	ENSP00000370262:p.Glu657Lys					FREM1_ENST00000422223.2_Missense_Mutation_p.E657K|FREM1_ENST00000380880.3_Missense_Mutation_p.E657K	p.E658K			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	12	2787	-			657					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1972G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544193	0.96488	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.28255	1.62;1.62;1.62	5.92	5.92	0.95590	.	0.090873	0.85682	D	0.000000	T	0.56470	0.1987	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	T	0.53627	-0.8412	10	0.51188	T	0.08	-22.3567	20.3206	0.98668	0.0:1.0:0.0:0.0	.	657	Q5H8C1	FREM1_HUMAN	K	658;657;657	ENSP00000370263:E658K;ENSP00000412940:E657K;ENSP00000370262:E657K	ENSP00000370257:E660K	E	-	1	0	FREM1	14814903	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	4.636000	0.61339	2.809000	0.96659	0.655000	0.94253	GAG		0.408	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		3	16	0	0	0	1	0	3	16				
DIAPH2	1730	broad.mit.edu	37	X	96171501	96171501	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chrX:96171501C>G	ENST00000324765.8	+	8	1144	c.797C>G	c.(796-798)cCc>cGc	p.P266R	DIAPH2_ENST00000373054.4_Missense_Mutation_p.P262R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P266R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P266R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	266	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCAATTGACCCCAAACAACCC	0.303																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(796-798)cCc>cGc		diaphanous-related formin 2							64.0	60.0	61.0					X																	96171501		2203	4294	6497	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96171501C>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.797C>G	X.37:g.96171501C>G	ENSP00000321348:p.Pro266Arg					DIAPH2_ENST00000373049.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P262R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P266R	p.P266R			O60879	DIAP2_HUMAN			8	1144	+			266			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.797C>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319279	0.60524	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94640	0.7829	10	0.62326	D	0.03	.	18.453	0.90711	0.0:1.0:0.0:0.0	.	266;266;273	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	266;262;266;266;266;273	ENSP00000362152:P266R;ENSP00000362145:P262R;ENSP00000348082:P266R;ENSP00000362140:P266R;ENSP00000321348:P266R	ENSP00000321348:P266R	P	+	2	0	DIAPH2	96058157	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.403000	0.79983	2.300000	0.77407	0.544000	0.68410	CCC		0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		5	11	0	0	0	1	0	5	11				
CES1	1066	broad.mit.edu	37	16	55862697	55862697	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr16:55862697G>A	ENST00000361503.4	-	2	369	c.239C>T	c.(238-240)gCc>gTc	p.A80V	CES1_ENST00000360526.3_Missense_Mutation_p.A81V|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Missense_Mutation_p.A80V			P23141	EST1_HUMAN	carboxylesterase 1	80					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTACGAGGTGGCATTCTTCAC	0.552																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(238-240)gCc>gTc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						110.0	108.0	109.0					16																	55862697		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862697G>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.239C>T	16.37:g.55862697G>A	ENSP00000355193:p.Ala80Val					CES1_ENST00000360526.3_Missense_Mutation_p.A81V|CES1_ENST00000361503.4_Missense_Mutation_p.A80V	p.A80V			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	520	-			80					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.239C>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987699	0.35036	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.76316	-1.01;-1.01;-1.01	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.573998	0.15601	N	0.253924	T	0.81955	0.4932	M	0.90977	3.165	0.51482	D	0.999922	P;P;P	0.38992	0.653;0.514;0.601	B;B;B	0.35353	0.201;0.083;0.127	D	0.86170	0.1599	10	0.72032	D	0.01	.	14.6933	0.69101	0.0:0.0:1.0:0.0	.	80;80;81	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	81;80;80	ENSP00000353720:A81V;ENSP00000355193:A80V;ENSP00000390492:A80V	ENSP00000353720:A81V	A	-	2	0	CES1	54420198	1.000000	0.71417	0.914000	0.36105	0.045000	0.14185	2.755000	0.47540	2.051000	0.60960	0.393000	0.25936	GCC		0.552	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		3	46	0	0	0	1	0	3	46				
SFTPA2	729238	broad.mit.edu	37	10	81317043	81317043	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:81317043C>G	ENST00000372325.2	-	6	753	c.669G>C	c.(667-669)caG>caC	p.Q223H	SFTPA2_ENST00000372327.5_Missense_Mutation_p.Q223H	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	223	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		Q -> K (in allele 1A(1), allele 1A(3) and allele 1A(4); dbSNP:rs1965708). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19100526, ECO:0000269|PubMed:20693318, ECO:0000269|Ref.4}.		respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCCACACACTGCTCTTTTC	0.562									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(667-669)caG>caC		surfactant protein A2							208.0	193.0	198.0					10																	81317043		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317043C>G		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.669G>C	10.37:g.81317043C>G	ENSP00000361400:p.Gln223His					SFTPA2_ENST00000372327.5_Missense_Mutation_p.Q223H	p.Q223H	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	753	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		223		Q -> K (in allele 1A(1), allele 1A(3) and allele 1A(4); dbSNP:rs1965708).	C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.669G>C	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	6.099	0.386569	0.11524	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.18810	2.19;2.19	2.81	-5.63	0.02474	.	0.856479	0.10402	N	0.679120	T	0.07413	0.0187	N	0.01817	-0.705	0.09310	N	0.999997	P	0.45594	0.862	P	0.48227	0.571	T	0.14671	-1.0464	10	0.46703	T	0.11	-2.2448	0.7708	0.01024	0.2372:0.1829:0.1345:0.4454	.	223	E3VLC8	.	H	223;189;223	ENSP00000361400:Q223H;ENSP00000361402:Q223H	ENSP00000361400:Q223H	Q	-	3	2	SFTPA2	80987049	0.132000	0.22450	0.624000	0.29186	0.054000	0.15201	-0.390000	0.07332	-0.780000	0.04553	-1.527000	0.00925	CAG		0.562	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		22	200	0	0	0	1	0	22	200				
PGAM2	5224	broad.mit.edu	37	7	44104787	44104787	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr7:44104787G>C	ENST00000297283.3	-	1	399	c.342C>G	c.(340-342)atC>atG	p.I114M	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	114				KI -> RS (in Ref. 3; AAA60072). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)	p.I114I(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGCGCCTCCAGATCTTCACCT	0.627																																						ENST00000297283.3																			1	Substitution - coding silent(1)	p.I114I(1)	large_intestine(1)	large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(340-342)atC>atG		phosphoglycerate mutase 2 (muscle)							62.0	60.0	60.0					7																	44104787		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44104787G>C		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.342C>G	7.37:g.44104787G>C	ENSP00000297283:p.Ile114Met					AC017116.11_ENST00000445938.1_RNA	p.I114M	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			1	399	-			114	KI -> RS (in Ref. 3; AAA60072).					Missense_Mutation	SNP	ENST00000297283.3	37	c.342C>G	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491417	0.64074	.	.	ENSG00000164708	ENST00000297283	T	0.72725	-0.68	5.93	5.93	0.95920	Histidine phosphatase superfamily, clade-1 (2);	0.046894	0.85682	D	0.000000	T	0.75102	0.3804	M	0.81239	2.535	0.80722	D	1	P	0.37176	0.586	B	0.41510	0.359	T	0.77236	-0.2662	10	0.59425	D	0.04	-33.9369	12.7993	0.57576	0.0:0.0:0.8366:0.1634	.	114	P15259	PGAM2_HUMAN	M	114	ENSP00000297283:I114M	ENSP00000297283:I114M	I	-	3	3	PGAM2	44071312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.096000	0.50243	2.833000	0.97629	0.650000	0.86243	ATC		0.627	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			9	48	0	0	0	1	0	9	48				
FAM111A	63901	broad.mit.edu	37	11	58919996	58919996	+	Silent	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr11:58919996G>A	ENST00000528737.1	+	5	3673	c.855G>A	c.(853-855)gaG>gaA	p.E285E	FAM111A_ENST00000420244.1_Silent_p.E285E|FAM111A_ENST00000531147.1_Silent_p.E285E|FAM111A_ENST00000361723.3_Silent_p.E285E|FAM111A_ENST00000533703.1_Silent_p.E285E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	285					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTGAGTCAGAGAAAAGAAACA	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(853-855)gaG>gaA		family with sequence similarity 111, member A							46.0	50.0	49.0					11																	58919996		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919996G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.855G>A	11.37:g.58919996G>A						FAM111A_ENST00000420244.1_Silent_p.E285E|FAM111A_ENST00000533703.1_Silent_p.E285E|FAM111A_ENST00000361723.3_Silent_p.E285E|FAM111A_ENST00000531147.1_Silent_p.E285E	p.E285E			Q96PZ2	F111A_HUMAN			5	3673	+		all_epithelial(135;0.139)	285					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.855G>A	CCDS7973.1																																																																																				0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		6	32	0	0	0	1	0	6	32				
MMP23B	8510	broad.mit.edu	37	1	1572327	1572327	+	IGR	SNP	G	G	A			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr1:1572327G>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Silent_p.L568L|CDK11B_ENST00000407249.3_Silent_p.L581L|CDK11B_ENST00000317673.7_Silent_p.L579L|CDK11B_ENST00000341832.6_Silent_p.L534L			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	TAGGCCTTCAGAGGGGATCCG	0.677																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1741-1743)Ctg>Ttg		cyclin-dependent kinase 11B							42.0	52.0	48.0					1																	1572327		2059	4190	6249	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572327G>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572327G>A						CDK11B_ENST00000317673.7_Silent_p.L579L|CDK11B_ENST00000341832.6_Silent_p.L534L|CDK11B_ENST00000340677.5_Silent_p.L568L	p.L581L			P21127	CD11B_HUMAN			17	1740	-			591			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	c.1741C>T	CCDS30559.1																																																																																				0.677	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		5	35	0	0	0	1	0	5	35				
GOLGB1	2804	broad.mit.edu	37	3	121413963	121413963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr3:121413963C>T	ENST00000340645.5	-	13	5517	c.5392G>A	c.(5392-5394)Gaa>Aaa	p.E1798K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1803K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1798					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGCTCTTCAGTCTCACCT	0.453																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5407-5409)Gaa>Aaa		golgin B1							286.0	270.0	276.0					3																	121413963		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413963C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5392G>A	3.37:g.121413963C>T	ENSP00000341848:p.Glu1798Lys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1798K	p.E1803K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5517	-			1798					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5407G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	1.767	-0.485372	0.04352	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16196	2.36;2.36	5.8	-11.6	0.00059	.	1.377050	0.04579	N	0.394639	T	0.12263	0.0298	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.18808	-1.0325	10	0.28530	T	0.3	.	16.4336	0.83861	0.0:0.6643:0.2162:0.1194	.	1723;1803;1803;1798	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	K	1798;1803	ENSP00000341848:E1798K;ENSP00000377275:E1803K	ENSP00000341848:E1798K	E	-	1	0	GOLGB1	122896653	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.169000	0.03120	-2.307000	0.00653	-1.008000	0.02478	GAA		0.453	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		15	97	0	0	0	1	0	15	97				
PCDH15	65217	broad.mit.edu	37	10	56077040	56077040	+	Silent	SNP	C	C	T			TCGA-CV-A45O-01A-21D-A24D-08	TCGA-CV-A45O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa15c9f3-b792-421a-98ad-43cab2fbbd85	9c528da7-a9c8-44be-bbd0-a38f25b8800d	g.chr10:56077040C>T	ENST00000320301.6	-	8	1261	c.867G>A	c.(865-867)ttG>ttA	p.L289L	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L289L|PCDH15_ENST00000414778.1_Silent_p.L294L|PCDH15_ENST00000395440.1_Silent_p.L289L|PCDH15_ENST00000395430.1_Silent_p.L289L|PCDH15_ENST00000373955.1_Silent_p.L289L|PCDH15_ENST00000373965.2_Silent_p.L289L|PCDH15_ENST00000373957.3_Silent_p.L267L|PCDH15_ENST00000395432.2_Silent_p.L252L|PCDH15_ENST00000361849.3_Silent_p.L289L|PCDH15_ENST00000395433.1_Silent_p.L267L|PCDH15_ENST00000395442.1_Silent_p.L289L|PCDH15_ENST00000395446.1_Silent_p.L289L|PCDH15_ENST00000395445.1_Silent_p.L289L|PCDH15_ENST00000437009.1_Silent_p.L289L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCGGAGTTCTCAACTCAGGTA	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(865-867)ttG>ttA		protocadherin-related 15							107.0	97.0	100.0					10																	56077040		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56077040C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.867G>A	10.37:g.56077040C>T		HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Silent_p.L289L|PCDH15_ENST00000373957.3_Silent_p.L267L|PCDH15_ENST00000395433.1_Silent_p.L267L|PCDH15_ENST00000395432.2_Silent_p.L252L|PCDH15_ENST00000395442.1_Silent_p.L289L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.L289L|PCDH15_ENST00000395430.1_Silent_p.L289L|PCDH15_ENST00000395438.1_Silent_p.L289L|PCDH15_ENST00000373955.1_Silent_p.L289L|PCDH15_ENST00000320301.6_Silent_p.L289L|PCDH15_ENST00000395446.1_Silent_p.L289L|PCDH15_ENST00000395445.1_Silent_p.L289L|PCDH15_ENST00000437009.1_Silent_p.L289L|PCDH15_ENST00000414778.1_Silent_p.L294L	p.L289L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			8	1261	-		Melanoma(3;0.117)|Lung SC(717;0.238)	289			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.867G>A	CCDS7248.1																																																																																				0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	33	0	0	0	1	0	7	33				
